Mutagenetix > Incidental Mutation

Incidental Mutation 'R4724:Hspg2'

354662

Institutional Source

Beutler Lab

Gene Symbol

Hspg2

Ensembl Gene

ENSMUSG00000028763

Gene Name

perlecan (heparan sulfate proteoglycan 2)

Synonyms

Plc, Pcn, per

MMRRC Submission

041988-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4724 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137468769-137570630 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137522127 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1328 (M1328K)

Ref Sequence

ENSEMBL: ENSMUSP00000030547 (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: M1328K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030547
Gene: ENSMUSG00000028763
AA Change: M1328K

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

possibly damaging
Transcript: ENSMUST00000171332
AA Change: M1328K

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131316
Gene: ENSMUSG00000028763
AA Change: M1328K

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	C	G	3: 90,053,541	Q34E	probably damaging	Het
4933434E20Rik	A	T	3: 90,053,542	Q34L	probably damaging	Het
4933434E20Rik	G	T	3: 90,053,583	V48F	probably damaging	Het
8430408G22Rik	T	A	6: 116,652,135	C146*	probably null	Het
Abra	T	C	15: 41,865,906	D366G	probably damaging	Het
Acvr2a	T	C	2: 48,870,435	S68P	probably damaging	Het
Adam28	T	A	14: 68,626,877	R492S	probably damaging	Het
Adamts1	T	A	16: 85,802,505	E69V	probably benign	Het
Adgra1	A	T	7: 139,875,589	M378L	probably benign	Het
Adgra2	T	A	8: 27,098,822	N101K	possibly damaging	Het
Adhfe1	T	A	1: 9,576,250	F449L	probably damaging	Het
Akap6	T	A	12: 52,795,885	S5R	possibly damaging	Het
Akap9	G	A	5: 4,055,339	R2883Q	probably benign	Het
Ank3	T	A	10: 69,706,858	I16N	probably benign	Het
Api5	A	T	2: 94,423,471	F296I	possibly damaging	Het
Ceacam14	G	T	7: 17,814,050		probably null	Het
Cep295	C	T	9: 15,330,832	G1768S	probably damaging	Het
Cldn12	A	G	5: 5,508,385	F14S	probably damaging	Het
Cp	C	A	3: 19,972,647	T413K	probably benign	Het
Ctdsp2	T	G	10: 126,993,069	V104G	probably damaging	Het
Ctrc	T	A	4: 141,846,296		probably null	Het
Dbt	T	C	3: 116,533,296	I98T	probably damaging	Het
Dcaf10	G	A	4: 45,372,769	R394Q	possibly damaging	Het
Dctn1	T	A	6: 83,189,938	M257K	possibly damaging	Het
Dlgap5	C	T	14: 47,401,520		probably null	Het
Drd3	G	T	16: 43,822,801	E467*	probably null	Het
Exoc8	A	G	8: 124,897,250	V126A	probably benign	Het
Fam185a	T	A	5: 21,455,787	S267T	probably damaging	Het
Fhod1	T	C	8: 105,337,861		probably benign	Het
Fn1	T	C	1: 71,648,148		probably null	Het
Gadl1	A	T	9: 115,954,617	T214S	possibly damaging	Het
Gem	G	T	4: 11,706,074	R54L	probably damaging	Het
Ghr	A	G	15: 3,325,940	V287A	probably benign	Het
Gm3642	G	A	14: 6,833,344	T215I	probably benign	Het
Grip1	T	A	10: 120,038,683	I732K	probably benign	Het
Gtpbp2	A	T	17: 46,167,221		probably null	Het
Heatr6	C	T	11: 83,779,548	R976*	probably null	Het
Hipk2	T	A	6: 38,698,392	T1084S	probably benign	Het
Hmcn1	T	C	1: 150,694,833		probably null	Het
Ifna4	C	A	4: 88,842,282	T141K	probably benign	Het
Ighv1-64	A	G	12: 115,507,846	V17A	probably benign	Het
Iqgap2	G	T	13: 95,635,497	N1391K	possibly damaging	Het
Irf7	A	T	7: 141,264,735	L148Q	possibly damaging	Het
Kat6b	G	A	14: 21,660,962	R768K	probably benign	Het
Lepr	G	A	4: 101,765,365	W447*	probably null	Het
Letmd1	A	G	15: 100,469,738	Y59C	probably damaging	Het
Lingo4	A	T	3: 94,402,876	K374*	probably null	Het
Loxl4	G	T	19: 42,608,346	D62E	probably benign	Het
Lrfn2	A	G	17: 49,070,434	D181G	probably damaging	Het
Lrrc71	A	T	3: 87,739,174	F526L	probably damaging	Het
Ltbp1	A	T	17: 75,313,008	M711L	probably damaging	Het
Mcm7	A	T	5: 138,169,125	D78E	probably damaging	Het
Mdh1	T	C	11: 21,562,957	N136D	probably damaging	Het
Meltf	T	A	16: 31,892,505	N515K	probably benign	Het
Mis18bp1	T	A	12: 65,158,739	T220S	probably benign	Het
Mtss1	C	T	15: 59,081,518	V4M	probably damaging	Het
Nacc2	A	T	2: 26,090,173	F84I	probably damaging	Het
Nedd9	A	G	13: 41,316,597	V360A	possibly damaging	Het
Nek11	T	A	9: 105,392,970	I18F	possibly damaging	Het
Nkd2	C	T	13: 73,847,005	V13M	probably damaging	Het
Nkx6-3	A	G	8: 23,156,269	I152V	probably damaging	Het
Npdc1	G	A	2: 25,408,945	D284N	probably damaging	Het
Olfr1	A	T	11: 73,395,155	I289N	probably damaging	Het
Olfr1352	A	G	10: 78,984,522	H244R	probably damaging	Het
Olfr1434	T	C	19: 12,283,096	L16P	probably damaging	Het
Olfr215	T	C	6: 116,582,937	N3S	probably damaging	Het
Olfr494	T	A	7: 108,367,998	F169L	probably benign	Het
Olfr66	A	G	7: 103,881,649	V198A	probably benign	Het
Oprm1	A	T	10: 6,758,656	R16*	probably null	Het
Ostf1	G	A	19: 18,593,867	P62L	probably damaging	Het
Pcdha2	A	T	18: 36,940,515	T400S	possibly damaging	Het
Pcdha5	A	T	18: 36,961,496	T353S	possibly damaging	Het
Pelo	A	G	13: 115,088,735	F318S	probably damaging	Het
Polr2f	T	C	15: 79,146,069	V36A	probably benign	Het
Ppan	G	A	9: 20,888,510	R41H	probably benign	Het
Ppp1r21	C	T	17: 88,555,591	R253*	probably null	Het
Prf1	T	A	10: 61,303,708	W482R	probably damaging	Het
Ralgapa2	T	C	2: 146,345,533	T1397A	possibly damaging	Het
Rev3l	T	A	10: 39,846,806	Y2598*	probably null	Het
Scaf11	G	T	15: 96,414,848	D1437E	probably benign	Het
Sec23a	C	T	12: 58,978,506	G510R	probably damaging	Het
Sel1l2	A	G	2: 140,240,927	M597T	probably damaging	Het
Slc11a2	A	T	15: 100,406,338	S160T	possibly damaging	Het
Slc18a1	A	T	8: 69,073,649	L129*	probably null	Het
Smg8	A	C	11: 87,086,221	L178R	probably benign	Het
Sp4	T	C	12: 118,261,809	T607A	probably benign	Het
Ssbp2	A	G	13: 91,688,814	D266G	possibly damaging	Het
Sstr3	A	T	15: 78,539,697	Y283*	probably null	Het
Stk32b	C	T	5: 37,454,934		probably null	Het
Svep1	T	C	4: 58,070,752	T2345A	possibly damaging	Het
Synpo2	A	G	3: 123,114,291	S459P	probably damaging	Het
Sytl2	A	G	7: 90,348,792	M1V	probably null	Het
Tas2r102	T	A	6: 132,762,557	W143R	probably damaging	Het
Thy1	T	C	9: 44,047,348	V129A	probably damaging	Het
Tlr2	A	T	3: 83,838,185	I197N	probably damaging	Het
Tmem101	A	G	11: 102,153,443	I206T	probably benign	Het
Tmem108	A	G	9: 103,499,489	S254P	possibly damaging	Het
Tmem198b	T	C	10: 128,801,481	Q263R	probably damaging	Het
Vangl1	T	C	3: 102,184,554	D72G	probably damaging	Het
Vmn1r4	T	A	6: 56,957,364	D284E	probably benign	Het
Vmn2r31	G	A	7: 7,384,758	L605F	possibly damaging	Het
Zfand4	T	C	6: 116,273,819	V70A	probably damaging	Het
Zfp54	A	G	17: 21,433,403	E53G	probably damaging	Het
Zfp541	A	T	7: 16,081,687	I805F	probably damaging	Het
Zfp976	T	C	7: 42,613,033	H460R	possibly damaging	Het

Other mutations in Hspg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Hspg2	APN	4	137528820	missense	probably damaging	1.00
IGL00339:Hspg2	APN	4	137539195	missense	probably damaging	1.00
IGL00943:Hspg2	APN	4	137562201	missense	probably benign	0.15
IGL00970:Hspg2	APN	4	137542590	missense	probably benign	0.09
IGL01011:Hspg2	APN	4	137559335	missense	probably damaging	1.00
IGL01148:Hspg2	APN	4	137546658	missense	probably benign	0.11
IGL01333:Hspg2	APN	4	137540314	missense	probably damaging	1.00
IGL01367:Hspg2	APN	4	137538489	missense	probably damaging	1.00
IGL01455:Hspg2	APN	4	137553817	missense	probably damaging	1.00
IGL01540:Hspg2	APN	4	137519706	missense	probably damaging	1.00
IGL01578:Hspg2	APN	4	137539183	missense	probably damaging	1.00
IGL01603:Hspg2	APN	4	137552803	missense	probably damaging	1.00
IGL01632:Hspg2	APN	4	137514773	missense	probably damaging	1.00
IGL01658:Hspg2	APN	4	137564926	missense	probably damaging	1.00
IGL01760:Hspg2	APN	4	137512671	missense	possibly damaging	0.60
IGL01976:Hspg2	APN	4	137561926	missense	probably damaging	1.00
IGL02024:Hspg2	APN	4	137540073	missense	probably damaging	1.00
IGL02033:Hspg2	APN	4	137552254	missense	probably benign
IGL02051:Hspg2	APN	4	137568389	unclassified	probably benign
IGL02124:Hspg2	APN	4	137518814	splice site	probably null
IGL02128:Hspg2	APN	4	137564016	missense	probably damaging	1.00
IGL02177:Hspg2	APN	4	137515316	missense	probably damaging	1.00
IGL02230:Hspg2	APN	4	137518645	missense	probably damaging	1.00
IGL02266:Hspg2	APN	4	137510577	missense	probably damaging	1.00
IGL02313:Hspg2	APN	4	137508389	missense	probably benign	0.03
IGL02477:Hspg2	APN	4	137544512	splice site	probably benign
IGL02514:Hspg2	APN	4	137569576	missense	probably benign	0.09
IGL02613:Hspg2	APN	4	137544420	missense	probably damaging	1.00
IGL02625:Hspg2	APN	4	137512642	missense	probably damaging	1.00
IGL02646:Hspg2	APN	4	137551848	missense	possibly damaging	0.60
IGL02651:Hspg2	APN	4	137557445	splice site	probably benign
IGL02701:Hspg2	APN	4	137557174	missense	probably damaging	0.96
IGL02833:Hspg2	APN	4	137555130	missense	probably benign	0.00
IGL02985:Hspg2	APN	4	137507803	missense	probably damaging	1.00
IGL03040:Hspg2	APN	4	137561825	critical splice donor site	probably null
IGL03181:Hspg2	APN	4	137515937	missense	probably damaging	1.00
IGL03349:Hspg2	APN	4	137560522	splice site	probably benign
G1patch:Hspg2	UTSW	4	137515307	missense	probably damaging	1.00
PIT4305001:Hspg2	UTSW	4	137550373	missense	possibly damaging	0.55
R0006:Hspg2	UTSW	4	137519931	missense	probably damaging	1.00
R0036:Hspg2	UTSW	4	137542849	missense	probably damaging	1.00
R0109:Hspg2	UTSW	4	137562201	missense	probably benign	0.15
R0131:Hspg2	UTSW	4	137551887	missense	probably damaging	1.00
R0131:Hspg2	UTSW	4	137551887	missense	probably damaging	1.00
R0132:Hspg2	UTSW	4	137551887	missense	probably damaging	1.00
R0245:Hspg2	UTSW	4	137514722	missense	probably damaging	1.00
R0388:Hspg2	UTSW	4	137511158	missense	probably damaging	1.00
R0389:Hspg2	UTSW	4	137515423	missense	possibly damaging	0.53
R0468:Hspg2	UTSW	4	137533529	missense	probably damaging	1.00
R0480:Hspg2	UTSW	4	137550024	missense	probably damaging	1.00
R0546:Hspg2	UTSW	4	137502294	missense	probably benign
R0599:Hspg2	UTSW	4	137512401	missense	probably damaging	0.98
R0652:Hspg2	UTSW	4	137514722	missense	probably damaging	1.00
R0671:Hspg2	UTSW	4	137553280	missense	probably damaging	1.00
R0760:Hspg2	UTSW	4	137512349	missense	probably damaging	1.00
R0883:Hspg2	UTSW	4	137541440	missense	probably benign	0.00
R1403:Hspg2	UTSW	4	137540100	missense	possibly damaging	0.90
R1417:Hspg2	UTSW	4	137517636	missense	probably benign
R1497:Hspg2	UTSW	4	137548096	missense	probably damaging	0.98
R1509:Hspg2	UTSW	4	137511241	splice site	probably benign
R1625:Hspg2	UTSW	4	137518971	missense	probably benign	0.23
R1630:Hspg2	UTSW	4	137518435	missense	probably damaging	1.00
R1651:Hspg2	UTSW	4	137533437	nonsense	probably null
R1699:Hspg2	UTSW	4	137548012	splice site	probably null
R1703:Hspg2	UTSW	4	137559151	missense	probably damaging	1.00
R1761:Hspg2	UTSW	4	137514673	missense	possibly damaging	0.90
R1775:Hspg2	UTSW	4	137520156	missense	probably damaging	0.99
R1779:Hspg2	UTSW	4	137518509	missense	probably damaging	1.00
R1843:Hspg2	UTSW	4	137545567	missense	probably damaging	1.00
R1891:Hspg2	UTSW	4	137565490	missense	probably damaging	1.00
R1930:Hspg2	UTSW	4	137540230	missense	probably damaging	1.00
R1931:Hspg2	UTSW	4	137540230	missense	probably damaging	1.00
R1942:Hspg2	UTSW	4	137542552	missense	possibly damaging	0.67
R1959:Hspg2	UTSW	4	137564895	missense	probably damaging	1.00
R2042:Hspg2	UTSW	4	137568366	missense	probably damaging	1.00
R2062:Hspg2	UTSW	4	137559367	missense	possibly damaging	0.79
R2098:Hspg2	UTSW	4	137520109	missense	probably damaging	1.00
R2158:Hspg2	UTSW	4	137517604	missense	probably damaging	1.00
R2280:Hspg2	UTSW	4	137522043	missense	probably damaging	1.00
R2890:Hspg2	UTSW	4	137549574	missense	probably damaging	1.00
R2927:Hspg2	UTSW	4	137518940	missense	probably damaging	1.00
R3428:Hspg2	UTSW	4	137555290	missense	probably damaging	1.00
R3744:Hspg2	UTSW	4	137565504	splice site	probably benign
R3873:Hspg2	UTSW	4	137539349	missense	probably damaging	1.00
R3874:Hspg2	UTSW	4	137539349	missense	probably damaging	1.00
R3917:Hspg2	UTSW	4	137559314	missense	probably damaging	1.00
R3932:Hspg2	UTSW	4	137515568	missense	probably damaging	0.99
R3933:Hspg2	UTSW	4	137515568	missense	probably damaging	0.99
R4134:Hspg2	UTSW	4	137556657	missense	probably damaging	0.99
R4272:Hspg2	UTSW	4	137518940	missense	probably damaging	1.00
R4273:Hspg2	UTSW	4	137518940	missense	probably damaging	1.00
R4274:Hspg2	UTSW	4	137518940	missense	probably damaging	1.00
R4275:Hspg2	UTSW	4	137518940	missense	probably damaging	1.00
R4288:Hspg2	UTSW	4	137518940	missense	probably damaging	1.00
R4289:Hspg2	UTSW	4	137518940	missense	probably damaging	1.00
R4354:Hspg2	UTSW	4	137468911	missense	probably benign	0.17
R4355:Hspg2	UTSW	4	137529418	missense	probably damaging	0.98
R4400:Hspg2	UTSW	4	137548122	missense	probably benign	0.01
R4411:Hspg2	UTSW	4	137562224	missense	probably benign
R4421:Hspg2	UTSW	4	137548122	missense	probably benign	0.01
R4592:Hspg2	UTSW	4	137518940	missense	probably damaging	1.00
R4612:Hspg2	UTSW	4	137518940	missense	probably damaging	1.00
R4612:Hspg2	UTSW	4	137539575	missense	possibly damaging	0.80
R4619:Hspg2	UTSW	4	137546573	missense	probably damaging	1.00
R4658:Hspg2	UTSW	4	137533730	missense	probably damaging	1.00
R4667:Hspg2	UTSW	4	137539645	missense	possibly damaging	0.90
R4739:Hspg2	UTSW	4	137570073	unclassified	probably benign
R4793:Hspg2	UTSW	4	137529473	missense	possibly damaging	0.95
R4826:Hspg2	UTSW	4	137565395	missense	probably damaging	1.00
R4838:Hspg2	UTSW	4	137541666	missense	possibly damaging	0.53
R4896:Hspg2	UTSW	4	137518940	missense	probably damaging	1.00
R4926:Hspg2	UTSW	4	137542530	missense	probably damaging	1.00
R4939:Hspg2	UTSW	4	137508031	missense	probably damaging	1.00
R5032:Hspg2	UTSW	4	137518940	missense	probably damaging	1.00
R5033:Hspg2	UTSW	4	137518940	missense	probably damaging	1.00
R5071:Hspg2	UTSW	4	137540230	missense	probably damaging	1.00
R5072:Hspg2	UTSW	4	137540230	missense	probably damaging	1.00
R5114:Hspg2	UTSW	4	137511926	missense	probably damaging	1.00
R5177:Hspg2	UTSW	4	137518772	missense	probably damaging	1.00
R5223:Hspg2	UTSW	4	137543914	missense	probably damaging	1.00
R5433:Hspg2	UTSW	4	137528794	splice site	probably null
R5529:Hspg2	UTSW	4	137551828	missense	probably damaging	1.00
R5541:Hspg2	UTSW	4	137520551	missense	probably damaging	1.00
R5541:Hspg2	UTSW	4	137542825	missense	probably benign	0.17
R5546:Hspg2	UTSW	4	137548174	critical splice donor site	probably null
R5728:Hspg2	UTSW	4	137542766	missense	possibly damaging	0.95
R5764:Hspg2	UTSW	4	137561721	missense	probably damaging	1.00
R5920:Hspg2	UTSW	4	137553782	missense	probably damaging	1.00
R5934:Hspg2	UTSW	4	137518772	missense	probably damaging	1.00
R6074:Hspg2	UTSW	4	137540735	missense	probably benign
R6164:Hspg2	UTSW	4	137514655	missense	possibly damaging	0.89
R6175:Hspg2	UTSW	4	137569518	missense	probably damaging	1.00
R6217:Hspg2	UTSW	4	137540248	missense	probably damaging	0.99
R6262:Hspg2	UTSW	4	137519686	missense	probably damaging	1.00
R6299:Hspg2	UTSW	4	137544705	missense	probably damaging	1.00
R6333:Hspg2	UTSW	4	137561955	missense	probably damaging	1.00
R6371:Hspg2	UTSW	4	137541695	missense	probably damaging	1.00
R6430:Hspg2	UTSW	4	137539396	missense	probably damaging	1.00
R6498:Hspg2	UTSW	4	137507801	missense	possibly damaging	0.46
R6522:Hspg2	UTSW	4	137555275	missense	probably damaging	1.00
R6680:Hspg2	UTSW	4	137565737	missense	probably benign	0.18
R6724:Hspg2	UTSW	4	137515307	missense	probably damaging	1.00
R6725:Hspg2	UTSW	4	137515307	missense	probably damaging	1.00
R6762:Hspg2	UTSW	4	137551803	missense	possibly damaging	0.83
R6785:Hspg2	UTSW	4	137508398	missense	probably damaging	0.99
R6788:Hspg2	UTSW	4	137515307	missense	probably damaging	1.00
R6931:Hspg2	UTSW	4	137540720	missense	probably damaging	1.00
R6959:Hspg2	UTSW	4	137519289	missense	probably benign	0.45
R6968:Hspg2	UTSW	4	137535156	missense	probably damaging	1.00
R6988:Hspg2	UTSW	4	137528890	missense	probably damaging	1.00
R7021:Hspg2	UTSW	4	137542269	missense	possibly damaging	0.69
R7089:Hspg2	UTSW	4	137544366	missense	possibly damaging	0.51
R7107:Hspg2	UTSW	4	137510652	missense	probably damaging	1.00
R7141:Hspg2	UTSW	4	137552116	missense	probably damaging	1.00
R7161:Hspg2	UTSW	4	137514719	missense	probably damaging	1.00
R7189:Hspg2	UTSW	4	137533561	critical splice donor site	probably null
R7238:Hspg2	UTSW	4	137508393	missense	probably damaging	1.00
R7253:Hspg2	UTSW	4	137519946	missense	probably benign	0.15
R7278:Hspg2	UTSW	4	137551125	missense	probably damaging	0.98
R7287:Hspg2	UTSW	4	137529556	missense	probably benign	0.00
R7390:Hspg2	UTSW	4	137539179	missense	probably damaging	1.00
R7436:Hspg2	UTSW	4	137515664	missense	probably damaging	0.99
R7479:Hspg2	UTSW	4	137539403	missense	probably benign	0.17
R7516:Hspg2	UTSW	4	137542620	missense	possibly damaging	0.94
R7540:Hspg2	UTSW	4	137541440	missense	possibly damaging	0.51
R7603:Hspg2	UTSW	4	137548368	missense	probably damaging	1.00
R7603:Hspg2	UTSW	4	137557192	missense	possibly damaging	0.91
R7625:Hspg2	UTSW	4	137564938	missense	probably damaging	1.00
R7696:Hspg2	UTSW	4	137511966	missense	possibly damaging	0.78
R7767:Hspg2	UTSW	4	137511866	missense	probably damaging	1.00
R7815:Hspg2	UTSW	4	137512464	missense	probably damaging	1.00
R7825:Hspg2	UTSW	4	137558849	missense	probably damaging	1.00
R7863:Hspg2	UTSW	4	137564824	missense	probably benign	0.03
R7885:Hspg2	UTSW	4	137516837	missense	probably damaging	1.00
R7899:Hspg2	UTSW	4	137548116	missense	possibly damaging	0.72
R7937:Hspg2	UTSW	4	137550932	missense	probably benign	0.01
R7975:Hspg2	UTSW	4	137555221	missense	probably benign	0.26
R8078:Hspg2	UTSW	4	137508022	missense	probably damaging	1.00
R8285:Hspg2	UTSW	4	137512663	missense	probably benign	0.18
R8314:Hspg2	UTSW	4	137539675	missense	probably benign	0.12
R8322:Hspg2	UTSW	4	137518979	missense	possibly damaging	0.88
R8323:Hspg2	UTSW	4	137518979	missense	possibly damaging	0.88
R8324:Hspg2	UTSW	4	137518979	missense	possibly damaging	0.88
R8341:Hspg2	UTSW	4	137518979	missense	possibly damaging	0.88
R8383:Hspg2	UTSW	4	137544370	missense	possibly damaging	0.66
R8425:Hspg2	UTSW	4	137550867	nonsense	probably null
R8491:Hspg2	UTSW	4	137553719	missense	probably benign	0.00
R8525:Hspg2	UTSW	4	137539448	missense	probably damaging	0.98
R8978:Hspg2	UTSW	4	137564030	missense	probably benign	0.09
R9152:Hspg2	UTSW	4	137522565	missense	possibly damaging	0.89
R9166:Hspg2	UTSW	4	137542874	missense	probably damaging	1.00
R9175:Hspg2	UTSW	4	137529346	missense	probably damaging	0.98
R9210:Hspg2	UTSW	4	137562479	missense	probably benign	0.05
R9221:Hspg2	UTSW	4	137560415	missense	possibly damaging	0.79
R9325:Hspg2	UTSW	4	137538241	missense	probably damaging	1.00
R9339:Hspg2	UTSW	4	137551169	missense	probably benign
R9340:Hspg2	UTSW	4	137569516	missense	probably damaging	1.00
R9358:Hspg2	UTSW	4	137517598	missense	probably damaging	1.00
R9451:Hspg2	UTSW	4	137511069	missense	probably damaging	1.00
R9534:Hspg2	UTSW	4	137540761	missense	probably benign
R9656:Hspg2	UTSW	4	137551885	missense	probably benign
R9664:Hspg2	UTSW	4	137539576	missense	probably benign	0.03
R9695:Hspg2	UTSW	4	137538390	missense	probably damaging	1.00
R9741:Hspg2	UTSW	4	137512651	missense	probably damaging	1.00
V5622:Hspg2	UTSW	4	137533738	missense	probably damaging	0.99
V5622:Hspg2	UTSW	4	137533738	missense	probably damaging	0.99
X0028:Hspg2	UTSW	4	137550391	missense	probably benign
Z1177:Hspg2	UTSW	4	137550467	missense	probably damaging	1.00
Z1177:Hspg2	UTSW	4	137564518	missense	probably damaging	0.99
Z1177:Hspg2	UTSW	4	137568373	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- TGCTCACGACTGCTAGTAAG -3'
(R):5'- AAGGGTTAGCTTGGTCAGGC -3'

Sequencing Primer
(F):5'- ACTGCTAGTAAGTAGTGGCTGG -3'
(R):5'- TTAGCTTGGTCAGGCACACC -3'

Posted On

2015-10-21