Mutagenetix > Incidental Mutation

Incidental Mutation 'R1775:Hspg2'

204312

Institutional Source

Beutler Lab

Gene Symbol

Hspg2

Ensembl Gene

ENSMUSG00000028763

Gene Name

perlecan (heparan sulfate proteoglycan 2)

Synonyms

Plc, per, perlecan, Pcn

MMRRC Submission

039806-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1775 (G1)

Quality Score

122

Status

Validated

Chromosome

Chromosomal Location

137196080-137297941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 137247467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 1200 (R1200W)

Ref Sequence

ENSEMBL: ENSMUSP00000131316 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030547
AA Change: R1200W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030547
Gene: ENSMUSG00000028763
AA Change: R1200W

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 damaging
Transcript: ENSMUST00000171332
AA Change: R1200W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131316
Gene: ENSMUSG00000028763
AA Change: R1200W

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

Meta Mutation Damage Score

0.2727

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (95/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J04Rik	A	G	12: 11,272,143 (GRCm39)	S20P	unknown	Het
4921528I07Rik	G	A	9: 114,108,386 (GRCm39)		noncoding transcript	Het
4930562C15Rik	G	A	16: 4,669,422 (GRCm39)		probably null	Het
4933427I04Rik	A	G	4: 123,754,286 (GRCm39)	T67A	possibly damaging	Het
Abcc2	A	T	19: 43,786,858 (GRCm39)	N160Y	possibly damaging	Het
Acaca	A	G	11: 84,191,248 (GRCm39)	D155G	possibly damaging	Het
Afg3l1	G	A	8: 124,219,639 (GRCm39)	R389Q	possibly damaging	Het
Ank2	G	A	3: 126,728,196 (GRCm39)	T799M	probably benign	Het
Anxa2	T	C	9: 69,395,363 (GRCm39)	Y202H	possibly damaging	Het
Arhgef33	A	G	17: 80,681,172 (GRCm39)	T771A	probably benign	Het
Atp12a	T	C	14: 56,610,046 (GRCm39)	V182A	probably benign	Het
Birc6	T	C	17: 74,919,281 (GRCm39)	L210S	probably damaging	Het
Car3	A	G	3: 14,929,492 (GRCm39)	T73A	probably benign	Het
Cd5l	T	C	3: 87,275,966 (GRCm39)	L312P	probably damaging	Het
Celf5	A	G	10: 81,303,138 (GRCm39)		probably benign	Het
Cep290	T	A	10: 100,332,672 (GRCm39)	V257E	probably damaging	Het
Cntrob	T	C	11: 69,211,693 (GRCm39)	D177G	possibly damaging	Het
Copg2	A	T	6: 30,787,271 (GRCm39)	F658I	probably damaging	Het
Csmd3	T	C	15: 47,763,135 (GRCm39)	T1234A	probably damaging	Het
Dhx35	A	G	2: 158,648,357 (GRCm39)	T72A	probably damaging	Het
Dmrtc2	A	T	7: 24,573,792 (GRCm39)	H209L	possibly damaging	Het
Eml5	G	T	12: 98,818,963 (GRCm39)		probably null	Het
Evpl	T	C	11: 116,114,486 (GRCm39)	E1068G	possibly damaging	Het
Ezh2	A	G	6: 47,553,594 (GRCm39)	M41T	probably damaging	Het
Fmo3	A	G	1: 162,796,294 (GRCm39)	S93P	possibly damaging	Het
Gdi2	A	G	13: 3,610,018 (GRCm39)	Y213C	possibly damaging	Het
Gpr15	A	T	16: 58,538,921 (GRCm39)	I56K	probably benign	Het
Gria2	G	T	3: 80,598,645 (GRCm39)	S796R	probably benign	Het
Hectd4	T	A	5: 121,429,254 (GRCm39)		probably benign	Het
Hgfac	T	C	5: 35,200,194 (GRCm39)		probably benign	Het
Ift52	G	A	2: 162,867,275 (GRCm39)	D78N	possibly damaging	Het
Iqca1	C	A	1: 90,009,138 (GRCm39)	W415L	probably damaging	Het
Ism1	A	T	2: 139,587,963 (GRCm39)	K236N	probably damaging	Het
Itgb6	C	T	2: 60,502,988 (GRCm39)	W43*	probably null	Het
Kcnk18	T	A	19: 59,223,773 (GRCm39)	I306N	probably damaging	Het
Kctd8	T	C	5: 69,497,903 (GRCm39)	K248E	probably damaging	Het
Layn	T	A	9: 50,970,833 (GRCm39)	I237F	probably benign	Het
Lce3f	C	T	3: 92,900,248 (GRCm39)	P23L	unknown	Het
Lct	A	G	1: 128,228,038 (GRCm39)	F1152L	probably damaging	Het
Mettl25b	A	G	3: 87,831,124 (GRCm39)	S404P	probably damaging	Het
Mxra8	T	C	4: 155,927,531 (GRCm39)	I413T	probably damaging	Het
Nedd9	A	G	13: 41,471,438 (GRCm39)	V187A	probably benign	Het
Net1	A	G	13: 3,937,642 (GRCm39)	L207P	probably damaging	Het
Neurod1	G	T	2: 79,284,781 (GRCm39)	P201T	probably benign	Het
Nlrp1b	A	G	11: 71,052,647 (GRCm39)	F927S	probably damaging	Het
Ntrk3	T	A	7: 78,005,789 (GRCm39)	H524L	possibly damaging	Het
Nup98	A	C	7: 101,784,144 (GRCm39)	S1063A	probably benign	Het
Or10ak11	T	A	4: 118,687,065 (GRCm39)	M191L	probably benign	Het
Or11h4b	G	T	14: 50,918,623 (GRCm39)	P156Q	possibly damaging	Het
Or56b1	G	A	7: 104,285,366 (GRCm39)	V162I	probably benign	Het
Or5b97	C	A	19: 12,878,599 (GRCm39)	V182F	probably benign	Het
Or5m9b	G	A	2: 85,905,104 (GRCm39)	V7I	possibly damaging	Het
Or6d15	T	C	6: 116,559,925 (GRCm39)		probably benign	Het
Pdzd2	G	A	15: 12,592,546 (GRCm39)	R33W	probably damaging	Het
Phf21a	G	A	2: 92,160,860 (GRCm39)	V243I	probably damaging	Het
Ppp1r12b	A	G	1: 134,821,086 (GRCm39)		probably null	Het
Rexo5	T	C	7: 119,444,634 (GRCm39)	V703A	probably benign	Het
Rgs4	A	G	1: 169,572,847 (GRCm39)	S30P	probably benign	Het
Rxra	C	A	2: 27,646,256 (GRCm39)	D340E	probably damaging	Het
Samhd1	A	G	2: 156,949,467 (GRCm39)	V473A	probably benign	Het
Scn3a	T	A	2: 65,302,686 (GRCm39)	K1253N	probably damaging	Het
Scn7a	T	C	2: 66,511,299 (GRCm39)	N1207S	probably benign	Het
Sec24d	T	A	3: 123,130,166 (GRCm39)	I443N	probably damaging	Het
Sema4g	T	A	19: 44,987,681 (GRCm39)		probably null	Het
Sema5b	A	G	16: 35,480,694 (GRCm39)	K787R	probably benign	Het
Serpinc1	A	G	1: 160,817,217 (GRCm39)	N104D	probably benign	Het
Sfn	T	C	4: 133,328,542 (GRCm39)	H180R	probably damaging	Het
Slc22a6	G	T	19: 8,596,471 (GRCm39)		probably null	Het
Slc9a8	T	C	2: 167,299,278 (GRCm39)	S217P	probably benign	Het
Smc6	A	G	12: 11,359,270 (GRCm39)	N965D	probably benign	Het
Sod2	T	A	17: 13,233,919 (GRCm39)	I177N	probably damaging	Het
Sp4	A	T	12: 118,263,335 (GRCm39)	I237K	probably damaging	Het
Sulf2	T	C	2: 165,921,532 (GRCm39)	K697R	probably benign	Het
Svs4	A	T	2: 164,119,005 (GRCm39)	D110E	unknown	Het
Tas1r1	T	A	4: 152,122,675 (GRCm39)	R57*	probably null	Het
Tlr5	T	C	1: 182,801,287 (GRCm39)	I197T	probably damaging	Het
Tmc3	T	C	7: 83,261,740 (GRCm39)	V606A	probably benign	Het
Tmem241	T	A	18: 12,251,469 (GRCm39)	L37F	probably damaging	Het
Tmem59l	A	T	8: 70,938,903 (GRCm39)	N90K	probably damaging	Het
Tram1	A	C	1: 13,646,680 (GRCm39)		probably benign	Het
Trim15	T	A	17: 37,176,061 (GRCm39)	H162L	probably benign	Het
Ttc28	T	A	5: 111,424,677 (GRCm39)	Y1501N	probably benign	Het
Ttc34	T	C	4: 154,946,671 (GRCm39)	V857A	probably benign	Het
Tulp4	A	G	17: 6,189,321 (GRCm39)	T48A	probably damaging	Het
Usp9y	T	C	Y: 1,368,089 (GRCm39)	E939G	probably damaging	Het
Utp20	A	G	10: 88,606,670 (GRCm39)	I1634T	probably benign	Het
Vmn2r72	T	C	7: 85,387,378 (GRCm39)	M729V	probably benign	Het
Vps13c	C	T	9: 67,788,729 (GRCm39)	T334M	probably damaging	Het
Wnk4	C	G	11: 101,167,166 (GRCm39)		probably benign	Het
Xpo1	A	G	11: 23,221,193 (GRCm39)	N97D	probably benign	Het
Xpo4	A	T	14: 57,841,129 (GRCm39)	F518Y	probably benign	Het
Zfp668	C	T	7: 127,465,778 (GRCm39)	V469I	possibly damaging	Het
Zfp85	C	A	13: 67,897,823 (GRCm39)	C83F	probably damaging	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
R0883:Hspg2	UTSW	4	137,268,751 (GRCm39)	missense	probably benign	0.00
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
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'- TGTAACTGCCATGGCCACTC -3'
(R):5'- TCTGAAATGGATGCTATCTCTCC -3'

Sequencing Primer
(F):5'- TCAGAGACCTGTGAGCCTGAG -3'
(R):5'- GAAATGGATGCTATCTCTCCCTAGTG -3'

Posted On

2014-06-23