Mutagenetix > Incidental Mutation

Incidental Mutation 'R0883:Hspg2'

80756

Institutional Source

Beutler Lab

Gene Symbol

Hspg2

Ensembl Gene

ENSMUSG00000028763

Gene Name

perlecan (heparan sulfate proteoglycan 2)

Synonyms

Plc, per, perlecan, Pcn

MMRRC Submission

039050-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0883 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137196080-137297941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137268751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 2157 (S2157P)

Ref Sequence

ENSEMBL: ENSMUSP00000131316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030547] [ENSMUST00000171332]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030547
AA Change: S2151P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030547
Gene: ENSMUSG00000028763
AA Change: S2151P

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	53	78	N/A	INTRINSIC
SEA	80	194	4.94e-18	SMART
LDLa	198	236	4.51e-12	SMART
low complexity region	253	267	N/A	INTRINSIC
LDLa	284	321	1.62e-13	SMART
LDLa	324	361	2.59e-12	SMART
LDLa	367	405	3.86e-11	SMART
IGc2	419	486	4.06e-13	SMART
LamB	590	717	7.45e-54	SMART
EGF_Lam	764	811	6.05e-14	SMART
EGF_Lam	814	869	3.82e-2	SMART
EGF_like	871	921	6.74e-1	SMART
low complexity region	934	939	N/A	INTRINSIC
LamB	985	1112	2.87e-55	SMART
Pfam:Laminin_EGF	1113	1156	7.5e-5	PFAM
EGF_Lam	1159	1206	1.1e-11	SMART
EGF_Lam	1209	1263	2.46e-5	SMART
EGF_Lam	1275	1322	4.96e-10	SMART
LamB	1391	1516	5.3e-59	SMART
EGF_like	1516	1560	3.36e0	SMART
EGF_Lam	1563	1610	2.66e-10	SMART
EGF_Lam	1613	1668	3.73e-5	SMART
IGc2	1688	1752	1.76e-8	SMART
IGc2	1783	1846	5.97e-11	SMART
IGc2	1877	1939	8.57e-12	SMART
IGc2	1967	2031	1.82e-15	SMART
IGc2	2056	2117	4.81e-15	SMART
IGc2	2157	2216	1.37e-10	SMART
IGc2	2251	2312	5.88e-10	SMART
low complexity region	2333	2344	N/A	INTRINSIC
IGc2	2347	2408	1.97e-11	SMART
IGc2	2441	2502	1.59e-15	SMART
low complexity region	2517	2528	N/A	INTRINSIC
IGc2	2538	2599	3.08e-13	SMART
IGc2	2634	2695	9.25e-17	SMART
low complexity region	2704	2728	N/A	INTRINSIC
IGc2	2731	2792	1.84e-11	SMART
IGc2	2828	2889	2.11e-11	SMART
IGc2	2926	2987	3.25e-12	SMART
IG	3017	3098	3.62e-10	SMART
IGc2	3114	3180	9.05e-11	SMART
IGc2	3212	3273	2.44e-16	SMART
IGc2	3299	3360	2.26e-11	SMART
IGc2	3400	3461	6.81e-6	SMART
IGc2	3489	3550	1.59e-15	SMART
IGc2	3575	3636	2.54e-14	SMART
LamG	3672	3813	3.41e-39	SMART
EGF	3832	3866	6.91e-9	SMART
EGF	3872	3907	4.46e-3	SMART
LamG	3934	4070	4.78e-43	SMART
EGF	4092	4126	1.17e-6	SMART
EGF	4131	4161	1.87e-5	SMART
LamG	4211	4348	1.33e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171332
AA Change: S2157P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131316
Gene: ENSMUSG00000028763
AA Change: S2157P

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	53	78	N/A	INTRINSIC
SEA	80	194	4.94e-18	SMART
LDLa	198	236	4.51e-12	SMART
low complexity region	253	267	N/A	INTRINSIC
LDLa	284	321	1.62e-13	SMART
LDLa	324	361	2.59e-12	SMART
LDLa	367	405	3.86e-11	SMART
IGc2	419	486	4.06e-13	SMART
LamB	590	717	7.45e-54	SMART
EGF_Lam	764	811	6.05e-14	SMART
EGF_Lam	814	869	3.82e-2	SMART
EGF_like	871	921	6.74e-1	SMART
low complexity region	934	939	N/A	INTRINSIC
LamB	985	1112	2.87e-55	SMART
Pfam:Laminin_EGF	1114	1156	7.9e-5	PFAM
EGF_Lam	1159	1206	1.1e-11	SMART
EGF_Lam	1209	1263	2.46e-5	SMART
EGF_Lam	1275	1322	4.96e-10	SMART
LamB	1391	1516	5.3e-59	SMART
EGF_like	1516	1560	3.36e0	SMART
EGF_Lam	1563	1610	2.66e-10	SMART
EGF_Lam	1613	1668	3.73e-5	SMART
IGc2	1688	1752	1.76e-8	SMART
IGc2	1783	1846	5.97e-11	SMART
IGc2	1877	1939	8.57e-12	SMART
IGc2	1967	2031	1.82e-15	SMART
IGc2	2062	2123	4.81e-15	SMART
IGc2	2163	2222	1.37e-10	SMART
IGc2	2257	2318	5.88e-10	SMART
low complexity region	2339	2350	N/A	INTRINSIC
IGc2	2353	2414	1.97e-11	SMART
IGc2	2447	2508	1.59e-15	SMART
low complexity region	2523	2534	N/A	INTRINSIC
IGc2	2544	2605	3.08e-13	SMART
IGc2	2640	2701	9.25e-17	SMART
low complexity region	2710	2734	N/A	INTRINSIC
IGc2	2737	2798	1.84e-11	SMART
IGc2	2836	2897	2.11e-11	SMART
IGc2	2934	2995	3.25e-12	SMART
IG	3025	3106	3.62e-10	SMART
IGc2	3122	3188	9.05e-11	SMART
IGc2	3220	3281	2.44e-16	SMART
IGc2	3307	3368	2.26e-11	SMART
IGc2	3408	3469	6.81e-6	SMART
IGc2	3497	3558	1.59e-15	SMART
IGc2	3583	3644	2.54e-14	SMART
LamG	3680	3821	3.41e-39	SMART
EGF	3840	3874	6.91e-9	SMART
EGF	3880	3915	4.46e-3	SMART
LamG	3942	4078	4.78e-43	SMART
EGF	4100	4134	1.17e-6	SMART
EGF	4139	4169	1.87e-5	SMART
LamG	4219	4356	1.33e-41	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184284

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

98% (148/151)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and transthyretin, etc., and it plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and tardive dyskinesia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous targeted null mutants die either at embryonic day 10.5 with cardiac outflow defects and/or brain exencephaly or at birth with skeletal dysplasia including micromelia and craniofacial defects. An exon 3 deletion mutant shows only a lens defect. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 150 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,775,632 (GRCm39)	L1607P	probably damaging	Het
1700016H13Rik	T	C	5: 103,796,687 (GRCm39)	*118W	probably null	Het
4930595M18Rik	G	T	X: 80,464,537 (GRCm39)	T390N	possibly damaging	Het
Abca13	C	T	11: 9,241,238 (GRCm39)	Q1034*	probably null	Het
Acsbg3	A	T	17: 57,190,835 (GRCm39)	N468Y	probably benign	Het
Adgra3	T	C	5: 50,118,065 (GRCm39)	H1161R	probably damaging	Het
Aff1	T	C	5: 103,974,004 (GRCm39)		probably benign	Het
Agap2	A	G	10: 126,927,571 (GRCm39)	T1131A	possibly damaging	Het
Ankrd12	A	G	17: 66,292,127 (GRCm39)	V1102A	probably benign	Het
Ankrd54	A	T	15: 78,946,931 (GRCm39)	C23S	probably damaging	Het
Anxa10	C	T	8: 62,531,001 (GRCm39)	V70I	probably benign	Het
Asap3	T	C	4: 135,961,636 (GRCm39)		probably benign	Het
Asb13	T	C	13: 3,695,052 (GRCm39)		probably null	Het
Atp6v1a	A	T	16: 43,922,055 (GRCm39)		probably benign	Het
Atp8b1	T	G	18: 64,697,612 (GRCm39)	I411L	probably benign	Het
Baiap3	T	A	17: 25,468,075 (GRCm39)	N313I	probably damaging	Het
Bok	T	C	1: 93,614,209 (GRCm39)	I14T	probably benign	Het
Bri3bp	T	A	5: 125,518,808 (GRCm39)		probably null	Het
C2cd2l	A	G	9: 44,227,499 (GRCm39)	L186P	probably damaging	Het
Cadm2	A	T	16: 66,679,702 (GRCm39)	C44S	probably damaging	Het
Capn11	T	C	17: 45,949,807 (GRCm39)		probably benign	Het
Carm1	T	A	9: 21,480,887 (GRCm39)		probably benign	Het
Ccdc27	T	C	4: 154,120,941 (GRCm39)	E285G	unknown	Het
Cct3	T	A	3: 88,220,864 (GRCm39)	D298E	probably damaging	Het
Cd59b	T	A	2: 103,911,331 (GRCm39)		probably benign	Het
Cdh2	T	C	18: 16,762,633 (GRCm39)	N437S	probably benign	Het
Celsr3	T	A	9: 108,719,832 (GRCm39)	I2470N	probably damaging	Het
Cfap100	G	A	6: 90,392,888 (GRCm39)		probably benign	Het
Cfap119	T	C	7: 127,184,034 (GRCm39)	E261G	probably damaging	Het
Cfap45	A	T	1: 172,359,756 (GRCm39)	R98S	possibly damaging	Het
Cfap54	T	A	10: 92,706,531 (GRCm39)	H2757L	unknown	Het
Chd1	C	A	17: 15,945,693 (GRCm39)	N72K	probably benign	Het
Cntn4	A	T	6: 106,644,501 (GRCm39)		probably benign	Het
Cstf2t	A	T	19: 31,062,026 (GRCm39)	M521L	probably benign	Het
Daam2	A	T	17: 49,805,911 (GRCm39)		probably benign	Het
Ddias	A	T	7: 92,508,545 (GRCm39)	W457R	probably benign	Het
Ddr2	C	T	1: 169,822,198 (GRCm39)	V417I	probably benign	Het
Dhx57	T	C	17: 80,577,800 (GRCm39)	T570A	probably damaging	Het
Dmp1	A	G	5: 104,355,496 (GRCm39)	E32G	possibly damaging	Het
Dtymk	C	T	1: 93,729,510 (GRCm39)	V14M	possibly damaging	Het
Dync2li1	G	A	17: 84,956,699 (GRCm39)	M286I	probably benign	Het
Eea1	G	A	10: 95,857,529 (GRCm39)	D664N	possibly damaging	Het
Esp6	G	T	17: 40,876,287 (GRCm39)	V112L	probably benign	Het
Fam83h	G	T	15: 75,878,018 (GRCm39)	Q127K	probably damaging	Het
Gabbr2	G	A	4: 46,677,474 (GRCm39)	T802I	probably benign	Het
Gart	C	A	16: 91,420,291 (GRCm39)	D851Y	possibly damaging	Het
Gemin6	T	A	17: 80,535,524 (GRCm39)	H161Q	probably damaging	Het
Gm10912	T	C	2: 103,896,875 (GRCm39)	S5P	probably benign	Het
Gm5941	G	A	X: 91,533,817 (GRCm39)	A62T	possibly damaging	Het
Gng2	G	T	14: 19,941,363 (GRCm39)	D26E	probably benign	Het
Gpr33	A	G	12: 52,070,418 (GRCm39)	V207A	probably benign	Het
Gstm3	T	A	3: 107,873,586 (GRCm39)		probably benign	Het
Havcr1	T	C	11: 46,643,259 (GRCm39)	C60R	probably damaging	Het
Ift140	A	G	17: 25,309,907 (GRCm39)	T1105A	probably benign	Het
Igsf8	C	A	1: 172,143,826 (GRCm39)	A56D	possibly damaging	Het
Kat6a	G	T	8: 23,352,230 (GRCm39)	A5S	probably damaging	Het
Kctd16	A	G	18: 40,663,828 (GRCm39)	E319G	probably damaging	Het
Kmo	T	C	1: 175,474,706 (GRCm39)	V157A	possibly damaging	Het
Lrp5	T	A	19: 3,655,308 (GRCm39)	I1071F	probably damaging	Het
Lrrc17	A	G	5: 21,766,276 (GRCm39)	T253A	probably benign	Het
Mast2	T	A	4: 116,168,964 (GRCm39)	H769L	probably damaging	Het
Mast4	T	C	13: 102,990,408 (GRCm39)	K50E	probably damaging	Het
Mbd5	A	G	2: 49,146,701 (GRCm39)	T304A	possibly damaging	Het
Mbp	T	C	18: 82,590,995 (GRCm39)	S73P	probably damaging	Het
Mc5r	T	A	18: 68,472,163 (GRCm39)	V174E	probably damaging	Het
Med13	T	A	11: 86,197,864 (GRCm39)	T736S	probably benign	Het
Med13l	T	C	5: 118,809,067 (GRCm39)		probably benign	Het
Minar1	T	C	9: 89,484,470 (GRCm39)	H309R	probably benign	Het
Mlh3	C	G	12: 85,282,488 (GRCm39)	A1382P	possibly damaging	Het
Mpdz	T	C	4: 81,278,228 (GRCm39)		probably benign	Het
Muc5ac	A	G	7: 141,350,002 (GRCm39)	T582A	possibly damaging	Het
Nalcn	A	G	14: 123,702,152 (GRCm39)	F453S	probably damaging	Het
Nrap	T	A	19: 56,333,906 (GRCm39)	M902L	probably damaging	Het
Nup85	C	T	11: 115,459,196 (GRCm39)	R100*	probably null	Het
Nxf1	T	G	19: 8,741,955 (GRCm39)	N296K	probably damaging	Het
Ogg1	A	G	6: 113,305,381 (GRCm39)	T65A	probably damaging	Het
Ogt	A	G	X: 100,687,805 (GRCm39)		probably benign	Het
Or4c10	A	G	2: 89,760,545 (GRCm39)	T131A	probably benign	Het
Or4k48	C	T	2: 111,476,136 (GRCm39)	V69I	probably benign	Het
Or51e1	T	A	7: 102,359,202 (GRCm39)	H245Q	probably damaging	Het
Or56b1b	T	A	7: 108,164,483 (GRCm39)	N173I	probably benign	Het
Ovol2	T	C	2: 144,173,710 (GRCm39)	D24G	probably damaging	Het
Pabpc1	A	G	15: 36,599,298 (GRCm39)		probably benign	Het
Pak6	T	C	2: 118,524,168 (GRCm39)	L441P	probably damaging	Het
Pappa	T	A	4: 65,107,552 (GRCm39)	C654*	probably null	Het
Paqr6	T	A	3: 88,273,298 (GRCm39)	S97T	probably damaging	Het
Parp14	T	C	16: 35,678,888 (GRCm39)	N360S	probably benign	Het
Pclo	G	T	5: 14,727,873 (GRCm39)	G2244*	probably null	Het
Pdzrn3	A	T	6: 101,132,903 (GRCm39)		probably null	Het
Pes1	T	C	11: 3,925,557 (GRCm39)	M220T	probably damaging	Het
Phip	A	T	9: 82,758,274 (GRCm39)	V1473E	probably benign	Het
Pkd2l2	T	A	18: 34,563,321 (GRCm39)		probably null	Het
Plch1	T	C	3: 63,660,677 (GRCm39)	D302G	probably damaging	Het
Plekhh2	A	G	17: 84,925,459 (GRCm39)	T1419A	probably benign	Het
Ppara	A	T	15: 85,682,372 (GRCm39)	E356V	probably damaging	Het
Ppp1r37	G	A	7: 19,266,102 (GRCm39)	P555S	probably benign	Het
Ppp6r1	T	C	7: 4,642,709 (GRCm39)	E545G	possibly damaging	Het
Proser3	G	A	7: 30,240,124 (GRCm39)	H327Y	probably damaging	Het
Prss43	T	A	9: 110,658,576 (GRCm39)	I292N	probably damaging	Het
Pwwp3b	T	A	X: 138,136,444 (GRCm39)	D327E	probably damaging	Het
Pygl	G	C	12: 70,253,178 (GRCm39)	N271K	probably damaging	Het
Rassf7	T	A	7: 140,796,903 (GRCm39)		probably benign	Het
Rfx2	T	C	17: 57,110,722 (GRCm39)	Y88C	probably damaging	Het
Rpl6	T	C	5: 121,346,541 (GRCm39)	V214A	probably benign	Het
Rspo1	T	A	4: 124,885,225 (GRCm39)		probably null	Het
Sav1	A	C	12: 70,012,979 (GRCm39)	L366V	probably benign	Het
Sema3b	T	G	9: 107,481,355 (GRCm39)	T52P	possibly damaging	Het
Senp6	A	G	9: 80,023,841 (GRCm39)	D40G	probably damaging	Het
Sh3pxd2a	A	G	19: 47,256,646 (GRCm39)	S719P	probably damaging	Het
Shank1	C	T	7: 44,001,718 (GRCm39)	R1146W	unknown	Het
Slc34a3	G	T	2: 25,121,245 (GRCm39)	D307E	probably benign	Het
Slc35b3	T	C	13: 39,121,251 (GRCm39)	I330V	probably benign	Het
Slc4a10	G	A	2: 62,073,742 (GRCm39)	C268Y	probably benign	Het
Slco6d1	A	G	1: 98,349,124 (GRCm39)	E65G	probably benign	Het
Slit2	A	G	5: 48,402,915 (GRCm39)		probably benign	Het
Smcr8	T	C	11: 60,668,941 (GRCm39)	Y30H	probably damaging	Het
Snap47	A	G	11: 59,329,326 (GRCm39)		probably benign	Het
Snrnp25	G	A	11: 32,156,960 (GRCm39)	V15I	probably damaging	Het
Spns2	T	C	11: 72,345,223 (GRCm39)	Y449C	probably damaging	Het
Stab2	T	A	10: 86,760,314 (GRCm39)		probably benign	Het
Strip1	C	A	3: 107,521,929 (GRCm39)	D750Y	probably damaging	Het
Taf1c	A	T	8: 120,326,722 (GRCm39)	I438N	probably damaging	Het
Tbc1d2	T	A	4: 46,609,003 (GRCm39)	K745*	probably null	Het
Tctn1	T	C	5: 122,402,207 (GRCm39)	T76A	probably damaging	Het
Tesl1	A	T	X: 23,773,290 (GRCm39)	I264F	probably benign	Het
Tfpi	T	C	2: 84,273,664 (GRCm39)		probably benign	Het
Timm44	A	T	8: 4,316,592 (GRCm39)	H317Q	probably benign	Het
Tnfaip1	A	T	11: 78,420,840 (GRCm39)		probably benign	Het
Tnpo3	A	T	6: 29,554,992 (GRCm39)		probably benign	Het
Top3b	T	C	16: 16,697,301 (GRCm39)		probably benign	Het
Trak1	T	A	9: 121,282,351 (GRCm39)	M410K	possibly damaging	Het
Trpm3	C	A	19: 22,956,018 (GRCm39)	P1160Q	probably damaging	Het
Tyk2	T	A	9: 21,022,433 (GRCm39)	T799S	possibly damaging	Het
Ubfd1	G	A	7: 121,666,714 (GRCm39)		probably benign	Het
Unc13a	G	A	8: 72,094,817 (GRCm39)	R1272*	probably null	Het
Unc45b	T	A	11: 82,831,031 (GRCm39)	L797Q	possibly damaging	Het
Urb2	C	T	8: 124,757,709 (GRCm39)	Q1139*	probably null	Het
Vmn2r66	A	T	7: 84,657,070 (GRCm39)	S112T	probably benign	Het
Vmn2r71	A	T	7: 85,272,842 (GRCm39)	D552V	probably benign	Het
Vmn2r76	A	G	7: 85,877,904 (GRCm39)	Y498H	probably benign	Het
Vmn2r84	A	C	10: 130,226,984 (GRCm39)	W285G	probably damaging	Het
Vps72	G	T	3: 95,029,894 (GRCm39)	L304F	probably damaging	Het
Wiz	A	T	17: 32,575,415 (GRCm39)	I907N	probably damaging	Het
Yaf2	T	C	15: 93,183,417 (GRCm39)	K131R	probably damaging	Het
Zfp141	A	T	7: 42,125,480 (GRCm39)	Y331N	possibly damaging	Het
Zfp324	G	T	7: 12,704,951 (GRCm39)	C380F	probably damaging	Het
Zfp521	T	C	18: 13,978,119 (GRCm39)	T765A	probably benign	Het
Zfp616	A	T	11: 73,976,500 (GRCm39)	H923L	probably damaging	Het
Zfpm1	C	T	8: 123,062,585 (GRCm39)	T548M	probably damaging	Het
Zp2	A	T	7: 119,742,799 (GRCm39)		probably benign	Het

Other mutations in Hspg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Hspg2	APN	4	137,256,131 (GRCm39)	missense	probably damaging	1.00
IGL00339:Hspg2	APN	4	137,266,506 (GRCm39)	missense	probably damaging	1.00
IGL00943:Hspg2	APN	4	137,289,512 (GRCm39)	missense	probably benign	0.15
IGL00970:Hspg2	APN	4	137,269,901 (GRCm39)	missense	probably benign	0.09
IGL01011:Hspg2	APN	4	137,286,646 (GRCm39)	missense	probably damaging	1.00
IGL01148:Hspg2	APN	4	137,273,969 (GRCm39)	missense	probably benign	0.11
IGL01333:Hspg2	APN	4	137,267,625 (GRCm39)	missense	probably damaging	1.00
IGL01367:Hspg2	APN	4	137,265,800 (GRCm39)	missense	probably damaging	1.00
IGL01455:Hspg2	APN	4	137,281,128 (GRCm39)	missense	probably damaging	1.00
IGL01540:Hspg2	APN	4	137,247,017 (GRCm39)	missense	probably damaging	1.00
IGL01578:Hspg2	APN	4	137,266,494 (GRCm39)	missense	probably damaging	1.00
IGL01603:Hspg2	APN	4	137,280,114 (GRCm39)	missense	probably damaging	1.00
IGL01632:Hspg2	APN	4	137,242,084 (GRCm39)	missense	probably damaging	1.00
IGL01658:Hspg2	APN	4	137,292,237 (GRCm39)	missense	probably damaging	1.00
IGL01760:Hspg2	APN	4	137,239,982 (GRCm39)	missense	possibly damaging	0.60
IGL01976:Hspg2	APN	4	137,289,237 (GRCm39)	missense	probably damaging	1.00
IGL02024:Hspg2	APN	4	137,267,384 (GRCm39)	missense	probably damaging	1.00
IGL02033:Hspg2	APN	4	137,279,565 (GRCm39)	missense	probably benign
IGL02051:Hspg2	APN	4	137,295,700 (GRCm39)	unclassified	probably benign
IGL02124:Hspg2	APN	4	137,246,125 (GRCm39)	splice site	probably null
IGL02128:Hspg2	APN	4	137,291,327 (GRCm39)	missense	probably damaging	1.00
IGL02177:Hspg2	APN	4	137,242,627 (GRCm39)	missense	probably damaging	1.00
IGL02230:Hspg2	APN	4	137,245,956 (GRCm39)	missense	probably damaging	1.00
IGL02266:Hspg2	APN	4	137,237,888 (GRCm39)	missense	probably damaging	1.00
IGL02313:Hspg2	APN	4	137,235,700 (GRCm39)	missense	probably benign	0.03
IGL02477:Hspg2	APN	4	137,271,823 (GRCm39)	splice site	probably benign
IGL02514:Hspg2	APN	4	137,296,887 (GRCm39)	missense	probably benign	0.09
IGL02613:Hspg2	APN	4	137,271,731 (GRCm39)	missense	probably damaging	1.00
IGL02625:Hspg2	APN	4	137,239,953 (GRCm39)	missense	probably damaging	1.00
IGL02646:Hspg2	APN	4	137,279,159 (GRCm39)	missense	possibly damaging	0.60
IGL02651:Hspg2	APN	4	137,284,756 (GRCm39)	splice site	probably benign
IGL02701:Hspg2	APN	4	137,284,485 (GRCm39)	missense	probably damaging	0.96
IGL02833:Hspg2	APN	4	137,282,441 (GRCm39)	missense	probably benign	0.00
IGL02985:Hspg2	APN	4	137,235,114 (GRCm39)	missense	probably damaging	1.00
IGL03040:Hspg2	APN	4	137,289,136 (GRCm39)	critical splice donor site	probably null
IGL03181:Hspg2	APN	4	137,243,248 (GRCm39)	missense	probably damaging	1.00
IGL03349:Hspg2	APN	4	137,287,833 (GRCm39)	splice site	probably benign
G1patch:Hspg2	UTSW	4	137,242,618 (GRCm39)	missense	probably damaging	1.00
PIT4305001:Hspg2	UTSW	4	137,277,684 (GRCm39)	missense	possibly damaging	0.55
R0006:Hspg2	UTSW	4	137,247,242 (GRCm39)	missense	probably damaging	1.00
R0036:Hspg2	UTSW	4	137,270,160 (GRCm39)	missense	probably damaging	1.00
R0109:Hspg2	UTSW	4	137,289,512 (GRCm39)	missense	probably benign	0.15
R0131:Hspg2	UTSW	4	137,279,198 (GRCm39)	missense	probably damaging	1.00
R0131:Hspg2	UTSW	4	137,279,198 (GRCm39)	missense	probably damaging	1.00
R0132:Hspg2	UTSW	4	137,279,198 (GRCm39)	missense	probably damaging	1.00
R0245:Hspg2	UTSW	4	137,242,033 (GRCm39)	missense	probably damaging	1.00
R0388:Hspg2	UTSW	4	137,238,469 (GRCm39)	missense	probably damaging	1.00
R0389:Hspg2	UTSW	4	137,242,734 (GRCm39)	missense	possibly damaging	0.53
R0468:Hspg2	UTSW	4	137,260,840 (GRCm39)	missense	probably damaging	1.00
R0480:Hspg2	UTSW	4	137,277,335 (GRCm39)	missense	probably damaging	1.00
R0546:Hspg2	UTSW	4	137,229,605 (GRCm39)	missense	probably benign
R0599:Hspg2	UTSW	4	137,239,712 (GRCm39)	missense	probably damaging	0.98
R0652:Hspg2	UTSW	4	137,242,033 (GRCm39)	missense	probably damaging	1.00
R0671:Hspg2	UTSW	4	137,280,591 (GRCm39)	missense	probably damaging	1.00
R0760:Hspg2	UTSW	4	137,239,660 (GRCm39)	missense	probably damaging	1.00
R1403:Hspg2	UTSW	4	137,267,411 (GRCm39)	missense	possibly damaging	0.90
R1417:Hspg2	UTSW	4	137,244,947 (GRCm39)	missense	probably benign
R1497:Hspg2	UTSW	4	137,275,407 (GRCm39)	missense	probably damaging	0.98
R1509:Hspg2	UTSW	4	137,238,552 (GRCm39)	splice site	probably benign
R1625:Hspg2	UTSW	4	137,246,282 (GRCm39)	missense	probably benign	0.23
R1630:Hspg2	UTSW	4	137,245,746 (GRCm39)	missense	probably damaging	1.00
R1651:Hspg2	UTSW	4	137,260,748 (GRCm39)	nonsense	probably null
R1699:Hspg2	UTSW	4	137,275,323 (GRCm39)	splice site	probably null
R1703:Hspg2	UTSW	4	137,286,462 (GRCm39)	missense	probably damaging	1.00
R1761:Hspg2	UTSW	4	137,241,984 (GRCm39)	missense	possibly damaging	0.90
R1775:Hspg2	UTSW	4	137,247,467 (GRCm39)	missense	probably damaging	0.99
R1779:Hspg2	UTSW	4	137,245,820 (GRCm39)	missense	probably damaging	1.00
R1843:Hspg2	UTSW	4	137,272,878 (GRCm39)	missense	probably damaging	1.00
R1891:Hspg2	UTSW	4	137,292,801 (GRCm39)	missense	probably damaging	1.00
R1930:Hspg2	UTSW	4	137,267,541 (GRCm39)	missense	probably damaging	1.00
R1931:Hspg2	UTSW	4	137,267,541 (GRCm39)	missense	probably damaging	1.00
R1942:Hspg2	UTSW	4	137,269,863 (GRCm39)	missense	possibly damaging	0.67
R1959:Hspg2	UTSW	4	137,292,206 (GRCm39)	missense	probably damaging	1.00
R2042:Hspg2	UTSW	4	137,295,677 (GRCm39)	missense	probably damaging	1.00
R2062:Hspg2	UTSW	4	137,286,678 (GRCm39)	missense	possibly damaging	0.79
R2098:Hspg2	UTSW	4	137,247,420 (GRCm39)	missense	probably damaging	1.00
R2158:Hspg2	UTSW	4	137,244,915 (GRCm39)	missense	probably damaging	1.00
R2280:Hspg2	UTSW	4	137,249,354 (GRCm39)	missense	probably damaging	1.00
R2890:Hspg2	UTSW	4	137,276,885 (GRCm39)	missense	probably damaging	1.00
R2927:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R3428:Hspg2	UTSW	4	137,282,601 (GRCm39)	missense	probably damaging	1.00
R3744:Hspg2	UTSW	4	137,292,815 (GRCm39)	splice site	probably benign
R3873:Hspg2	UTSW	4	137,266,660 (GRCm39)	missense	probably damaging	1.00
R3874:Hspg2	UTSW	4	137,266,660 (GRCm39)	missense	probably damaging	1.00
R3917:Hspg2	UTSW	4	137,286,625 (GRCm39)	missense	probably damaging	1.00
R3932:Hspg2	UTSW	4	137,242,879 (GRCm39)	missense	probably damaging	0.99
R3933:Hspg2	UTSW	4	137,242,879 (GRCm39)	missense	probably damaging	0.99
R4134:Hspg2	UTSW	4	137,283,968 (GRCm39)	missense	probably damaging	0.99
R4272:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R4273:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R4274:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R4275:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R4288:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R4289:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R4354:Hspg2	UTSW	4	137,196,222 (GRCm39)	missense	probably benign	0.17
R4355:Hspg2	UTSW	4	137,256,729 (GRCm39)	missense	probably damaging	0.98
R4400:Hspg2	UTSW	4	137,275,433 (GRCm39)	missense	probably benign	0.01
R4411:Hspg2	UTSW	4	137,289,535 (GRCm39)	missense	probably benign
R4421:Hspg2	UTSW	4	137,275,433 (GRCm39)	missense	probably benign	0.01
R4592:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R4612:Hspg2	UTSW	4	137,266,886 (GRCm39)	missense	possibly damaging	0.80
R4612:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R4619:Hspg2	UTSW	4	137,273,884 (GRCm39)	missense	probably damaging	1.00
R4658:Hspg2	UTSW	4	137,261,041 (GRCm39)	missense	probably damaging	1.00
R4667:Hspg2	UTSW	4	137,266,956 (GRCm39)	missense	possibly damaging	0.90
R4724:Hspg2	UTSW	4	137,249,438 (GRCm39)	missense	probably damaging	0.96
R4739:Hspg2	UTSW	4	137,297,384 (GRCm39)	unclassified	probably benign
R4793:Hspg2	UTSW	4	137,256,784 (GRCm39)	missense	possibly damaging	0.95
R4826:Hspg2	UTSW	4	137,292,706 (GRCm39)	missense	probably damaging	1.00
R4838:Hspg2	UTSW	4	137,268,977 (GRCm39)	missense	possibly damaging	0.53
R4896:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R4926:Hspg2	UTSW	4	137,269,841 (GRCm39)	missense	probably damaging	1.00
R4939:Hspg2	UTSW	4	137,235,342 (GRCm39)	missense	probably damaging	1.00
R5032:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R5033:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R5071:Hspg2	UTSW	4	137,267,541 (GRCm39)	missense	probably damaging	1.00
R5072:Hspg2	UTSW	4	137,267,541 (GRCm39)	missense	probably damaging	1.00
R5114:Hspg2	UTSW	4	137,239,237 (GRCm39)	missense	probably damaging	1.00
R5177:Hspg2	UTSW	4	137,246,083 (GRCm39)	missense	probably damaging	1.00
R5223:Hspg2	UTSW	4	137,271,225 (GRCm39)	missense	probably damaging	1.00
R5433:Hspg2	UTSW	4	137,256,105 (GRCm39)	splice site	probably null
R5529:Hspg2	UTSW	4	137,279,139 (GRCm39)	missense	probably damaging	1.00
R5541:Hspg2	UTSW	4	137,270,136 (GRCm39)	missense	probably benign	0.17
R5541:Hspg2	UTSW	4	137,247,862 (GRCm39)	missense	probably damaging	1.00
R5546:Hspg2	UTSW	4	137,275,485 (GRCm39)	critical splice donor site	probably null
R5728:Hspg2	UTSW	4	137,270,077 (GRCm39)	missense	possibly damaging	0.95
R5764:Hspg2	UTSW	4	137,289,032 (GRCm39)	missense	probably damaging	1.00
R5920:Hspg2	UTSW	4	137,281,093 (GRCm39)	missense	probably damaging	1.00
R5934:Hspg2	UTSW	4	137,246,083 (GRCm39)	missense	probably damaging	1.00
R6074:Hspg2	UTSW	4	137,268,046 (GRCm39)	missense	probably benign
R6164:Hspg2	UTSW	4	137,241,966 (GRCm39)	missense	possibly damaging	0.89
R6175:Hspg2	UTSW	4	137,296,829 (GRCm39)	missense	probably damaging	1.00
R6217:Hspg2	UTSW	4	137,267,559 (GRCm39)	missense	probably damaging	0.99
R6262:Hspg2	UTSW	4	137,246,997 (GRCm39)	missense	probably damaging	1.00
R6299:Hspg2	UTSW	4	137,272,016 (GRCm39)	missense	probably damaging	1.00
R6333:Hspg2	UTSW	4	137,289,266 (GRCm39)	missense	probably damaging	1.00
R6371:Hspg2	UTSW	4	137,269,006 (GRCm39)	missense	probably damaging	1.00
R6430:Hspg2	UTSW	4	137,266,707 (GRCm39)	missense	probably damaging	1.00
R6498:Hspg2	UTSW	4	137,235,112 (GRCm39)	missense	possibly damaging	0.46
R6522:Hspg2	UTSW	4	137,282,586 (GRCm39)	missense	probably damaging	1.00
R6680:Hspg2	UTSW	4	137,293,048 (GRCm39)	missense	probably benign	0.18
R6724:Hspg2	UTSW	4	137,242,618 (GRCm39)	missense	probably damaging	1.00
R6725:Hspg2	UTSW	4	137,242,618 (GRCm39)	missense	probably damaging	1.00
R6762:Hspg2	UTSW	4	137,279,114 (GRCm39)	missense	possibly damaging	0.83
R6785:Hspg2	UTSW	4	137,235,709 (GRCm39)	missense	probably damaging	0.99
R6788:Hspg2	UTSW	4	137,242,618 (GRCm39)	missense	probably damaging	1.00
R6931:Hspg2	UTSW	4	137,268,031 (GRCm39)	missense	probably damaging	1.00
R6959:Hspg2	UTSW	4	137,246,600 (GRCm39)	missense	probably benign	0.45
R6968:Hspg2	UTSW	4	137,262,467 (GRCm39)	missense	probably damaging	1.00
R6988:Hspg2	UTSW	4	137,256,201 (GRCm39)	missense	probably damaging	1.00
R7021:Hspg2	UTSW	4	137,269,580 (GRCm39)	missense	possibly damaging	0.69
R7089:Hspg2	UTSW	4	137,271,677 (GRCm39)	missense	possibly damaging	0.51
R7107:Hspg2	UTSW	4	137,237,963 (GRCm39)	missense	probably damaging	1.00
R7141:Hspg2	UTSW	4	137,279,427 (GRCm39)	missense	probably damaging	1.00
R7161:Hspg2	UTSW	4	137,242,030 (GRCm39)	missense	probably damaging	1.00
R7189:Hspg2	UTSW	4	137,260,872 (GRCm39)	critical splice donor site	probably null
R7238:Hspg2	UTSW	4	137,235,704 (GRCm39)	missense	probably damaging	1.00
R7253:Hspg2	UTSW	4	137,247,257 (GRCm39)	missense	probably benign	0.15
R7278:Hspg2	UTSW	4	137,278,436 (GRCm39)	missense	probably damaging	0.98
R7287:Hspg2	UTSW	4	137,256,867 (GRCm39)	missense	probably benign	0.00
R7390:Hspg2	UTSW	4	137,266,490 (GRCm39)	missense	probably damaging	1.00
R7436:Hspg2	UTSW	4	137,242,975 (GRCm39)	missense	probably damaging	0.99
R7479:Hspg2	UTSW	4	137,266,714 (GRCm39)	missense	probably benign	0.17
R7516:Hspg2	UTSW	4	137,269,931 (GRCm39)	missense	possibly damaging	0.94
R7540:Hspg2	UTSW	4	137,268,751 (GRCm39)	missense	possibly damaging	0.51
R7603:Hspg2	UTSW	4	137,284,503 (GRCm39)	missense	possibly damaging	0.91
R7603:Hspg2	UTSW	4	137,275,679 (GRCm39)	missense	probably damaging	1.00
R7625:Hspg2	UTSW	4	137,292,249 (GRCm39)	missense	probably damaging	1.00
R7696:Hspg2	UTSW	4	137,239,277 (GRCm39)	missense	possibly damaging	0.78
R7767:Hspg2	UTSW	4	137,239,177 (GRCm39)	missense	probably damaging	1.00
R7815:Hspg2	UTSW	4	137,239,775 (GRCm39)	missense	probably damaging	1.00
R7825:Hspg2	UTSW	4	137,286,160 (GRCm39)	missense	probably damaging	1.00
R7863:Hspg2	UTSW	4	137,292,135 (GRCm39)	missense	probably benign	0.03
R7885:Hspg2	UTSW	4	137,244,148 (GRCm39)	missense	probably damaging	1.00
R7899:Hspg2	UTSW	4	137,275,427 (GRCm39)	missense	possibly damaging	0.72
R7937:Hspg2	UTSW	4	137,278,243 (GRCm39)	missense	probably benign	0.01
R7975:Hspg2	UTSW	4	137,282,532 (GRCm39)	missense	probably benign	0.26
R8078:Hspg2	UTSW	4	137,235,333 (GRCm39)	missense	probably damaging	1.00
R8285:Hspg2	UTSW	4	137,239,974 (GRCm39)	missense	probably benign	0.18
R8314:Hspg2	UTSW	4	137,266,986 (GRCm39)	missense	probably benign	0.12
R8322:Hspg2	UTSW	4	137,246,290 (GRCm39)	missense	possibly damaging	0.88
R8323:Hspg2	UTSW	4	137,246,290 (GRCm39)	missense	possibly damaging	0.88
R8324:Hspg2	UTSW	4	137,246,290 (GRCm39)	missense	possibly damaging	0.88
R8341:Hspg2	UTSW	4	137,246,290 (GRCm39)	missense	possibly damaging	0.88
R8383:Hspg2	UTSW	4	137,271,681 (GRCm39)	missense	possibly damaging	0.66
R8425:Hspg2	UTSW	4	137,278,178 (GRCm39)	nonsense	probably null
R8491:Hspg2	UTSW	4	137,281,030 (GRCm39)	missense	probably benign	0.00
R8525:Hspg2	UTSW	4	137,266,759 (GRCm39)	missense	probably damaging	0.98
R8978:Hspg2	UTSW	4	137,291,341 (GRCm39)	missense	probably benign	0.09
R9152:Hspg2	UTSW	4	137,249,876 (GRCm39)	missense	possibly damaging	0.89
R9166:Hspg2	UTSW	4	137,270,185 (GRCm39)	missense	probably damaging	1.00
R9175:Hspg2	UTSW	4	137,256,657 (GRCm39)	missense	probably damaging	0.98
R9210:Hspg2	UTSW	4	137,289,790 (GRCm39)	missense	probably benign	0.05
R9221:Hspg2	UTSW	4	137,287,726 (GRCm39)	missense	possibly damaging	0.79
R9325:Hspg2	UTSW	4	137,265,552 (GRCm39)	missense	probably damaging	1.00
R9339:Hspg2	UTSW	4	137,278,480 (GRCm39)	missense	probably benign
R9340:Hspg2	UTSW	4	137,296,827 (GRCm39)	missense	probably damaging	1.00
R9358:Hspg2	UTSW	4	137,244,909 (GRCm39)	missense	probably damaging	1.00
R9451:Hspg2	UTSW	4	137,238,380 (GRCm39)	missense	probably damaging	1.00
R9534:Hspg2	UTSW	4	137,268,072 (GRCm39)	missense	probably benign
R9656:Hspg2	UTSW	4	137,279,196 (GRCm39)	missense	probably benign
R9664:Hspg2	UTSW	4	137,266,887 (GRCm39)	missense	probably benign	0.03
R9695:Hspg2	UTSW	4	137,265,701 (GRCm39)	missense	probably damaging	1.00
R9741:Hspg2	UTSW	4	137,239,962 (GRCm39)	missense	probably damaging	1.00
V5622:Hspg2	UTSW	4	137,261,049 (GRCm39)	missense	probably damaging	0.99
V5622:Hspg2	UTSW	4	137,261,049 (GRCm39)	missense	probably damaging	0.99
X0028:Hspg2	UTSW	4	137,277,702 (GRCm39)	missense	probably benign
Z1177:Hspg2	UTSW	4	137,295,684 (GRCm39)	missense	possibly damaging	0.64
Z1177:Hspg2	UTSW	4	137,291,829 (GRCm39)	missense	probably damaging	0.99
Z1177:Hspg2	UTSW	4	137,277,778 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACTGTGCCATTTGTAGGCTACCC -3'
(R):5'- ATCCATTCCCTCTAGCAGGCTGAC -3'

Sequencing Primer
(F):5'- CTGACAGAGAAAGTCCTTGGCTC -3'
(R):5'- ACCCTGGGACGGTGTTAC -3'

Posted On

2013-11-07