Mutagenetix > Incidental Mutation

Incidental Mutation 'R7390:Hspg2'

573350

Institutional Source

Beutler Lab

Gene Symbol

Hspg2

Ensembl Gene

ENSMUSG00000028763

Gene Name

perlecan (heparan sulfate proteoglycan 2)

Synonyms

Plc, per, perlecan, Pcn

MMRRC Submission

045472-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7390 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137196080-137297941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137266490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 1884 (F1884I)

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: F1884I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030547
Gene: ENSMUSG00000028763
AA Change: F1884I

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: F1884I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131316
Gene: ENSMUSG00000028763
AA Change: F1884I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (66/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,992,152 (GRCm39)	D291E	probably benign	Het
Abca9	C	T	11: 110,036,487 (GRCm39)	V541I	probably benign	Het
Adamts15	A	T	9: 30,822,404 (GRCm39)		probably null	Het
Adgrg7	A	G	16: 56,553,207 (GRCm39)	I630T	probably damaging	Het
Ahnak	A	G	19: 8,980,569 (GRCm39)	I618V	probably benign	Het
Amotl2	T	A	9: 102,608,889 (GRCm39)	V801E	probably damaging	Het
Ankrd17	T	C	5: 90,430,779 (GRCm39)	T1002A	probably benign	Het
Bmp7	C	T	2: 172,711,998 (GRCm39)	D409N	probably damaging	Het
Bpifb2	A	G	2: 153,731,726 (GRCm39)	N293S	possibly damaging	Het
Ccdc162	A	G	10: 41,510,044 (GRCm39)	C854R	probably benign	Het
Ccdc171	A	G	4: 83,736,304 (GRCm39)	E1225G	probably damaging	Het
Cep350	T	C	1: 155,741,833 (GRCm39)	E2146G	possibly damaging	Het
Ces1a	A	C	8: 93,771,469 (GRCm39)		probably null	Het
Cfap45	T	G	1: 172,368,925 (GRCm39)	D444E	probably benign	Het
Cfap61	T	C	2: 145,843,802 (GRCm39)	V296A	probably benign	Het
Cgnl1	C	T	9: 71,552,931 (GRCm39)	R1011H	probably benign	Het
Cops4	C	T	5: 100,691,741 (GRCm39)	R347C	probably damaging	Het
D16Ertd472e	G	T	16: 78,344,576 (GRCm39)	D177E	probably benign	Het
Dcdc2a	T	C	13: 25,291,600 (GRCm39)	V195A	possibly damaging	Het
Dipk2a	A	G	9: 94,419,436 (GRCm39)	S165P	probably damaging	Het
Dpagt1	G	A	9: 44,243,319 (GRCm39)	V285I	probably benign	Het
Dspp	G	T	5: 104,323,552 (GRCm39)	A232S	probably damaging	Het
Efcab3	T	C	11: 104,615,411 (GRCm39)	I726T	possibly damaging	Het
Ephx2	G	A	14: 66,347,904 (GRCm39)			Het
Fat1	T	C	8: 45,405,511 (GRCm39)	V754A	possibly damaging	Het
Fstl3	G	A	10: 79,615,865 (GRCm39)	C117Y	probably damaging	Het
Gldc	A	T	19: 30,077,314 (GRCm39)	S953T	possibly damaging	Het
Gm1123	T	C	9: 98,893,033 (GRCm39)	N315S	probably benign	Het
Golga2	A	G	2: 32,178,202 (GRCm39)	E37G		Het
Gpr139	T	A	7: 118,743,835 (GRCm39)	Q250L	probably benign	Het
Grik3	C	T	4: 125,543,532 (GRCm39)	R283C	probably damaging	Het
Haao	A	C	17: 84,154,081 (GRCm39)	V22G	probably damaging	Het
Hyal3	G	A	9: 107,462,166 (GRCm39)	G67S	probably damaging	Het
Kbtbd3	T	A	9: 4,330,424 (GRCm39)	I266K	probably benign	Het
Klhl26	A	C	8: 70,905,499 (GRCm39)	L137R	probably damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lars1	A	G	18: 42,343,083 (GRCm39)		probably null	Het
Lats1	C	T	10: 7,577,859 (GRCm39)	Q328*	probably null	Het
Lingo3	G	A	10: 80,670,463 (GRCm39)	T489I	probably damaging	Het
Lmtk2	T	C	5: 144,066,261 (GRCm39)	V65A	possibly damaging	Het
Lysmd1	T	C	3: 95,045,795 (GRCm39)	S211P	probably damaging	Het
Med15	C	T	16: 17,540,626 (GRCm39)	S21N	unknown	Het
Nav1	T	C	1: 135,512,656 (GRCm39)	T135A	probably benign	Het
Nt5c1a	G	C	4: 123,102,272 (GRCm39)	R66T	probably benign	Het
Pclo	T	C	5: 14,732,024 (GRCm39)	Y3509H	unknown	Het
Pkp4	G	A	2: 59,140,484 (GRCm39)	G397R	possibly damaging	Het
Ppp1r21	G	A	17: 88,856,958 (GRCm39)	A138T	probably benign	Het
Pum3	A	T	19: 27,401,642 (GRCm39)	V136D	probably benign	Het
Rab11fip3	A	T	17: 26,287,126 (GRCm39)	D342E	possibly damaging	Het
Rcvrn	T	A	11: 67,590,883 (GRCm39)	W156R	probably damaging	Het
Rspry1	C	T	8: 95,349,813 (GRCm39)	T67I	probably benign	Het
Serpina1d	T	C	12: 103,734,037 (GRCm39)	D89G	possibly damaging	Het
Sgsm3	T	A	15: 80,893,021 (GRCm39)	V366E	possibly damaging	Het
Shank3	T	G	15: 89,433,515 (GRCm39)	L1420R	probably benign	Het
Sirpb1b	A	T	3: 15,608,100 (GRCm39)	L215*	probably null	Het
Slc16a13	C	T	11: 70,109,797 (GRCm39)	V235I	probably benign	Het
Slc16a14	T	C	1: 84,907,187 (GRCm39)	D29G	probably benign	Het
Speer1a	T	C	5: 11,394,879 (GRCm39)	V122A	probably benign	Het
Spns2	T	A	11: 72,347,704 (GRCm39)	T329S	possibly damaging	Het
Sufu	G	A	19: 46,439,108 (GRCm39)		probably null	Het
Tll2	A	G	19: 41,108,608 (GRCm39)		probably null	Het
Trim10	G	A	17: 37,180,773 (GRCm39)	M1I	probably null	Het
Trim42	A	C	9: 97,241,182 (GRCm39)	N683K	probably damaging	Het
Trmt5	A	G	12: 73,328,394 (GRCm39)	S270P	probably damaging	Het
Vmn1r59	C	A	7: 5,456,986 (GRCm39)	R258L	possibly damaging	Het
Vmn2r32	A	G	7: 7,482,851 (GRCm39)	L41S	probably benign	Het
Vmn2r93	A	T	17: 18,525,329 (GRCm39)	E329V	probably damaging	Het
Ywhae	G	T	11: 75,655,487 (GRCm39)	E253*	probably null	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
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
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'- ATGTTTCCAAAGCCCTCGC -3'
(R):5'- ATGCCGTTGTGGATCTGAGC -3'

Sequencing Primer
(F):5'- CACGGCAGAATGGCTATGC -3'
(R):5'- ATCTGAGCCTTCGCAGGAAGC -3'

Posted On

2019-09-13