Mutagenetix > Incidental Mutation

Incidental Mutation 'R1739:Shank2'

200191

Institutional Source

Beutler Lab

Gene Symbol

Shank2

Ensembl Gene

ENSMUSG00000037541

Gene Name

SH3 and multiple ankyrin repeat domains 2

Synonyms

ProSAP1

MMRRC Submission

039771-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1739 (G1)

Quality Score

171

Status

Not validated

Chromosome

Chromosomal Location

143555665-143978231 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143733590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 482 (N482Y)

Ref Sequence

ENSEMBL: ENSMUSP00000149134 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105900] [ENSMUST00000105902] [ENSMUST00000213146]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000105900
AA Change: N46Y

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

SMART Domains

Protein: ENSMUSP00000101520
Gene: ENSMUSG00000037541
AA Change: N46Y

Domain	Start	End	E-Value	Type
SH3	150	205	1.04e-14	SMART
PDZ	256	341	1.75e-14	SMART
low complexity region	345	364	N/A	INTRINSIC
low complexity region	509	524	N/A	INTRINSIC
low complexity region	662	674	N/A	INTRINSIC
low complexity region	749	760	N/A	INTRINSIC
low complexity region	780	792	N/A	INTRINSIC
low complexity region	829	847	N/A	INTRINSIC
low complexity region	1024	1038	N/A	INTRINSIC
low complexity region	1093	1104	N/A	INTRINSIC
low complexity region	1125	1147	N/A	INTRINSIC
low complexity region	1161	1177	N/A	INTRINSIC
low complexity region	1199	1207	N/A	INTRINSIC
low complexity region	1287	1301	N/A	INTRINSIC
low complexity region	1344	1359	N/A	INTRINSIC
low complexity region	1383	1397	N/A	INTRINSIC
SAM	1406	1472	2.52e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105902
AA Change: N425Y

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

SMART Domains

Protein: ENSMUSP00000101522
Gene: ENSMUSG00000037541
AA Change: N425Y

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
Pfam:FERM_f0	57	140	1.4e-21	PFAM
ANK	196	226	1.4e1	SMART
ANK	230	259	2.77e-3	SMART
ANK	263	293	1.42e0	SMART
ANK	297	326	1.25e-1	SMART
ANK	330	359	7.83e-3	SMART
ANK	363	391	1.29e2	SMART
SH3	529	584	1.04e-14	SMART
PDZ	635	720	1.75e-14	SMART
low complexity region	724	743	N/A	INTRINSIC
low complexity region	878	893	N/A	INTRINSIC
low complexity region	1031	1043	N/A	INTRINSIC
low complexity region	1118	1129	N/A	INTRINSIC
low complexity region	1149	1161	N/A	INTRINSIC
low complexity region	1198	1216	N/A	INTRINSIC
low complexity region	1393	1407	N/A	INTRINSIC
low complexity region	1462	1473	N/A	INTRINSIC
low complexity region	1494	1516	N/A	INTRINSIC
low complexity region	1530	1546	N/A	INTRINSIC
low complexity region	1568	1576	N/A	INTRINSIC
low complexity region	1656	1670	N/A	INTRINSIC
low complexity region	1713	1728	N/A	INTRINSIC
low complexity region	1752	1766	N/A	INTRINSIC
SAM	1775	1841	2.52e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000213146
AA Change: N482Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 91.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for null mutations display hyperactivity and abnormal social behavior. Mice homozygous for one null allele also display partial postnal lethality and limb grasping. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 231 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,877,529 (GRCm39)	T1059I	probably benign	Het
Abcb11	C	T	2: 69,091,910 (GRCm39)	A871T	probably damaging	Het
Acot7	T	C	4: 152,345,369 (GRCm39)	L313P	probably damaging	Het
Adam20	T	A	8: 41,249,595 (GRCm39)	H568Q	probably benign	Het
Adam26b	T	A	8: 43,974,714 (GRCm39)	D96V	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Apbb1	A	G	7: 105,223,434 (GRCm39)	V59A	probably benign	Het
Apc	A	G	18: 34,445,371 (GRCm39)	K722E	probably damaging	Het
Aspm	A	G	1: 139,401,312 (GRCm39)	I1111V	probably benign	Het
Aspscr1	A	G	11: 120,569,342 (GRCm39)	T47A	probably damaging	Het
Atr	G	A	9: 95,779,634 (GRCm39)	V1331I	probably benign	Het
Baz1a	G	A	12: 54,945,573 (GRCm39)	R1261*	probably null	Het
C2cd2l	C	A	9: 44,231,040 (GRCm39)	R49L	probably benign	Het
C4bp	C	G	1: 130,570,725 (GRCm39)	V284L	probably benign	Het
Cacna1c	A	C	6: 118,587,505 (GRCm39)	M1287R	probably damaging	Het
Cacna1s	T	C	1: 136,046,454 (GRCm39)	F1761S	probably benign	Het
Camsap2	C	T	1: 136,209,053 (GRCm39)	R802Q	probably benign	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Ccdc177	A	G	12: 80,806,013 (GRCm39)	V87A	probably damaging	Het
Ccdc178	T	A	18: 22,230,780 (GRCm39)	I364F	possibly damaging	Het
Ccdc93	T	C	1: 121,389,668 (GRCm39)	V237A	probably benign	Het
Ccdc93	C	T	1: 121,383,855 (GRCm39)	P192L	probably benign	Het
Cd55	C	T	1: 130,377,160 (GRCm39)	V333I	probably benign	Het
Cd55	C	A	1: 130,387,370 (GRCm39)	A143S	probably benign	Het
Cdh19	C	A	1: 110,821,114 (GRCm39)	E541D	probably damaging	Het
Cdh20	C	G	1: 109,993,465 (GRCm39)	L307V	possibly damaging	Het
Cep120	A	G	18: 53,852,286 (GRCm39)		probably null	Het
Cep128	G	T	12: 90,989,265 (GRCm39)		probably null	Het
Cep131	T	C	11: 119,974,732 (GRCm39)	I23V	probably benign	Het
Cfc1	A	G	1: 34,576,315 (GRCm39)	D125G	probably damaging	Het
Cfh	T	C	1: 140,064,526 (GRCm39)	K374R	probably benign	Het
Cfh	C	T	1: 140,075,435 (GRCm39)	V268I	possibly damaging	Het
Cfhr2	A	G	1: 139,741,180 (GRCm39)	M265T	probably benign	Het
Cfhr2	A	C	1: 139,741,197 (GRCm39)	N259K	probably benign	Het
Chi3l1	C	T	1: 134,116,267 (GRCm39)	A250V	probably damaging	Het
Clca3a1	C	A	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Clec4a3	C	T	6: 122,931,000 (GRCm39)	Q30*	probably null	Het
Cntnap3	T	A	13: 64,888,406 (GRCm39)	R1232S	probably benign	Het
Cntnap5a	C	T	1: 116,382,873 (GRCm39)	T1047I	probably benign	Het
Cntnap5a	C	A	1: 116,382,734 (GRCm39)	L1001I	probably benign	Het
Cntnap5a	T	C	1: 116,382,831 (GRCm39)	L1033S	probably benign	Het
Col12a1	T	A	9: 79,540,750 (GRCm39)	I2412F	probably damaging	Het
Crb1	G	A	1: 139,168,876 (GRCm39)	P881S	probably damaging	Het
Crb1	C	T	1: 139,170,733 (GRCm39)	G825R	probably damaging	Het
Crb1	C	T	1: 139,171,155 (GRCm39)	R684H	probably benign	Het
Crb1	T	C	1: 139,162,517 (GRCm39)	M1214V	probably benign	Het
Crb1	A	T	1: 139,165,360 (GRCm39)	H921Q	probably benign	Het
Cxcl2	C	T	5: 91,052,017 (GRCm39)	T41I	probably damaging	Het
Cxcr4	C	T	1: 128,517,014 (GRCm39)	V216I	probably benign	Het
Cyb5r1	C	T	1: 134,335,405 (GRCm39)	R147W	probably damaging	Het
Ddx59	T	C	1: 136,344,791 (GRCm39)	V154A	probably benign	Het
Disp2	T	C	2: 118,622,031 (GRCm39)	V921A	probably damaging	Het
Dnajc10	C	G	2: 80,178,006 (GRCm39)	A671G	probably benign	Het
Dner	T	C	1: 84,348,505 (GRCm39)	I732V	probably damaging	Het
Dsel	T	C	1: 111,787,187 (GRCm39)	N1116S	probably benign	Het
Dsel	G	C	1: 111,787,724 (GRCm39)	T937S	probably benign	Het
Dstyk	C	T	1: 132,384,722 (GRCm39)	L739F	probably damaging	Het
Dysf	T	C	6: 84,089,217 (GRCm39)		probably null	Het
Eefsec	T	A	6: 88,353,187 (GRCm39)	K161*	probably null	Het
Ehhadh	G	C	16: 21,581,003 (GRCm39)	A663G	probably benign	Het
En1	A	G	1: 120,531,350 (GRCm39)	S197G	unknown	Het
Etnk2	C	A	1: 133,293,325 (GRCm39)	D89E	probably benign	Het
Etnk2	G	T	1: 133,293,503 (GRCm39)	G149W	probably damaging	Het
Etnk2	C	T	1: 133,293,554 (GRCm39)	R166*	probably null	Het
Etnk2	G	A	1: 133,293,555 (GRCm39)	R166Q	probably benign	Het
Etnk2	T	A	1: 133,304,653 (GRCm39)	V292E	probably benign	Het
Etnk2	A	G	1: 133,291,661 (GRCm39)	S54G	probably benign	Het
Exph5	T	C	9: 53,286,888 (GRCm39)	V1323A	possibly damaging	Het
Eya2	G	T	2: 165,529,583 (GRCm39)	G109W	probably damaging	Het
Fam72a	C	T	1: 131,466,633 (GRCm39)	T139M	probably benign	Het
Fam72a	T	C	1: 131,458,406 (GRCm39)	I56T	probably benign	Het
Fcamr	A	G	1: 130,739,317 (GRCm39)	I206V	probably benign	Het
Fcamr	G	A	1: 130,740,366 (GRCm39)	G262S	probably benign	Het
Fcamr	A	G	1: 130,740,429 (GRCm39)	I283V	probably benign	Het
Fcamr	T	C	1: 130,740,475 (GRCm39)	V298A	probably benign	Het
Fcamr	A	G	1: 130,740,546 (GRCm39)	M322V	probably benign	Het
Fcamr	C	T	1: 130,740,553 (GRCm39)	P324L	probably benign	Het
Fcamr	A	G	1: 130,742,334 (GRCm39)	N574D	probably benign	Het
Fcamr	A	C	1: 130,732,364 (GRCm39)	N117T	probably benign	Het
Fcmr	T	C	1: 130,806,006 (GRCm39)	S321P	probably benign	Het
Fcmr	A	G	1: 130,803,711 (GRCm39)	T172A	probably benign	Het
Focad	T	C	4: 88,316,128 (GRCm39)	M1560T	probably benign	Het
Gadd45gip1	T	A	8: 85,558,921 (GRCm39)	M1K	probably null	Het
Gbgt1	T	C	2: 28,395,064 (GRCm39)	V234A	possibly damaging	Het
Gin1	T	A	1: 97,713,829 (GRCm39)	D376E	probably damaging	Het
Git1	A	T	11: 77,389,808 (GRCm39)	I24F	probably damaging	Het
Gli2	G	T	1: 118,929,774 (GRCm39)	H44Q	probably benign	Het
Gli2	C	T	1: 118,795,817 (GRCm39)	A113T	possibly damaging	Het
Gnptab	T	C	10: 88,271,957 (GRCm39)	Y916H	probably benign	Het
Gpr25	G	A	1: 136,188,448 (GRCm39)	P55L	probably benign	Het
Heg1	T	G	16: 33,558,953 (GRCm39)	I1058S	possibly damaging	Het
Hivep3	A	G	4: 119,952,371 (GRCm39)	Y229C	probably benign	Het
Idi1	T	C	13: 8,940,447 (GRCm39)	F210L	probably benign	Het
Igfn1	T	C	1: 135,926,421 (GRCm39)	I10V	unknown	Het
Igfn1	T	C	1: 135,926,363 (GRCm39)	E29G	probably benign	Het
Igfn1	G	A	1: 135,910,213 (GRCm39)	R124W	probably benign	Het
Igfn1	C	T	1: 135,907,653 (GRCm39)	A231T	probably benign	Het
Igfn1	C	T	1: 135,899,865 (GRCm39)	R482Q	probably benign	Het
Igfn1	T	C	1: 135,898,149 (GRCm39)	S806G	probably benign	Het
Igfn1	G	A	1: 135,895,937 (GRCm39)	A1543V	probably benign	Het
Igfn1	G	A	1: 135,887,666 (GRCm39)	P2466L	probably damaging	Het
Ikbke	T	C	1: 131,197,560 (GRCm39)	S447G	probably benign	Het
Ikbke	C	A	1: 131,193,674 (GRCm39)	A459S	probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Kat7	T	G	11: 95,167,373 (GRCm39)	I455L	possibly damaging	Het
Kcnh5	G	T	12: 75,161,003 (GRCm39)	P302T	probably damaging	Het
Kcnt2	G	A	1: 140,282,285 (GRCm39)	S90N	probably benign	Het
Kif14	A	G	1: 136,396,017 (GRCm39)	N108D	probably benign	Het
Kif14	T	C	1: 136,453,521 (GRCm39)	V1433A	probably benign	Het
Kif14	A	G	1: 136,396,713 (GRCm39)	K340E	probably damaging	Het
Kif14	G	A	1: 136,406,103 (GRCm39)	A556T	probably benign	Het
Kif14	A	G	1: 136,418,070 (GRCm39)	S868G	probably benign	Het
Kif14	C	T	1: 136,431,169 (GRCm39)	L1189F	probably benign	Het
Kif14	T	C	1: 136,443,699 (GRCm39)	F1291L	probably benign	Het
Krtap12-1	C	T	10: 77,556,826 (GRCm39)	T123I	possibly damaging	Het
Ksr1	G	A	11: 78,938,131 (GRCm39)	T49I	probably damaging	Het
Lad1	C	T	1: 135,755,761 (GRCm39)	R346C	probably damaging	Het
Lad1	C	T	1: 135,755,119 (GRCm39)	P132S	possibly damaging	Het
Lat2	T	C	5: 134,635,223 (GRCm39)	H89R	possibly damaging	Het
Lax1	T	C	1: 133,608,307 (GRCm39)	N145D	probably benign	Het
Lax1	G	A	1: 133,611,372 (GRCm39)	P67S	probably damaging	Het
Lax1	T	C	1: 133,607,716 (GRCm39)	R342G	probably benign	Het
Lgr6	C	T	1: 134,914,826 (GRCm39)	V641I	probably benign	Het
Lgr6	A	T	1: 134,915,747 (GRCm39)	S334T	probably benign	Het
Lgr6	G	T	1: 134,918,373 (GRCm39)	H263N	probably benign	Het
Lgr6	C	T	1: 134,931,214 (GRCm39)	S3N	probably benign	Het
Lmod1	C	T	1: 135,291,811 (GRCm39)	T222I	probably benign	Het
Man2a2	T	C	7: 80,012,186 (GRCm39)	E657G	probably benign	Het
Mfsd4a	C	T	1: 131,995,621 (GRCm39)	D4N	possibly damaging	Het
Mn1	G	T	5: 111,567,880 (GRCm39)	A617S	possibly damaging	Het
Mov10	T	C	3: 104,707,598 (GRCm39)	D592G	probably damaging	Het
Mroh3	G	C	1: 136,119,882 (GRCm39)	Q440E	possibly damaging	Het
Mtmr12	A	T	15: 12,245,105 (GRCm39)	T207S	probably benign	Het
Musk	G	A	4: 58,293,563 (GRCm39)	V51M	probably damaging	Het
Mybph	C	T	1: 134,125,218 (GRCm39)	R249C	probably benign	Het
Naglu	C	T	11: 100,967,229 (GRCm39)	A393V	possibly damaging	Het
Nav1	A	T	1: 135,512,465 (GRCm39)	D198E	possibly damaging	Het
Ncan	T	A	8: 70,560,736 (GRCm39)	T744S	probably benign	Het
Nlrp4c	T	A	7: 6,076,221 (GRCm39)	V707E	probably damaging	Het
Nr5a2	C	A	1: 136,879,863 (GRCm39)	R35L	probably benign	Het
Nrcam	A	T	12: 44,618,458 (GRCm39)	Q822L	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Optc	C	G	1: 133,832,908 (GRCm39)	S64T	probably benign	Het
Or2f1	C	A	6: 42,721,069 (GRCm39)	L33M	possibly damaging	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or4c124	T	A	2: 89,155,910 (GRCm39)	I205F	probably benign	Het
Pak1	T	A	7: 97,553,902 (GRCm39)	V424E	probably damaging	Het
Pdcd6	G	A	13: 74,452,160 (GRCm39)	T160I	probably damaging	Het
Phf21a	C	T	2: 92,190,644 (GRCm39)	T535M	possibly damaging	Het
Pigr	C	T	1: 130,772,259 (GRCm39)	A159V	possibly damaging	Het
Pik3c2b	C	T	1: 132,994,365 (GRCm39)	P110S	probably benign	Het
Pkdrej	G	A	15: 85,704,628 (GRCm39)	T436I	probably benign	Het
Plekha6	C	G	1: 133,215,584 (GRCm39)	T792S	probably benign	Het
Ppip5k2	A	T	1: 97,656,682 (GRCm39)	H830Q	probably damaging	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Ptpn7	A	G	1: 135,062,213 (GRCm39)	Q53R	probably benign	Het
Ptprc	T	G	1: 138,027,414 (GRCm39)	N478T	probably benign	Het
Ptprc	T	C	1: 138,039,992 (GRCm39)	K212E	possibly damaging	Het
Ptprc	A	G	1: 138,035,575 (GRCm39)	V400A	probably benign	Het
Ptprc	C	A	1: 138,035,562 (GRCm39)	E402D	probably benign	Het
Ptprc	A	G	1: 138,035,561 (GRCm39)	S405P	probably benign	Het
Rab29	A	G	1: 131,799,848 (GRCm39)	Q141R	probably benign	Het
Ren1	C	T	1: 133,281,975 (GRCm39)	T32I	probably benign	Het
Ren1	T	A	1: 133,281,944 (GRCm39)	W22R	probably damaging	Het
Ren1	C	G	1: 133,287,745 (GRCm39)	L360V	probably benign	Het
Ren1	A	T	1: 133,287,721 (GRCm39)	N352Y	probably benign	Het
Ren1	A	T	1: 133,286,817 (GRCm39)	E315D	probably benign	Het
Ren1	A	C	1: 133,284,195 (GRCm39)	K187Q	probably benign	Het
Rnpep	C	T	1: 135,190,834 (GRCm39)	A571T	possibly damaging	Het
Rnpep	C	G	1: 135,211,367 (GRCm39)	R127P	probably benign	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Ro60	C	T	1: 143,635,752 (GRCm39)	V465I	probably benign	Het
Sctr	T	C	1: 119,959,386 (GRCm39)	F110L	probably benign	Het
Sctr	G	A	1: 119,990,987 (GRCm39)	S440N	possibly damaging	Het
Sctr	G	T	1: 119,990,976 (GRCm39)	E453D	probably benign	Het
Sema4a	A	G	3: 88,344,145 (GRCm39)	L702P	possibly damaging	Het
Septin4	A	T	11: 87,474,262 (GRCm39)	Q60L	probably benign	Het
Serpinb10	C	T	1: 107,466,203 (GRCm39)	S63F	probably damaging	Het
Serpinb2	G	A	1: 107,443,365 (GRCm39)	A55T	probably damaging	Het
Serpinb2	A	C	1: 107,452,273 (GRCm39)	S284R	probably benign	Het
Serpinb2	C	T	1: 107,451,624 (GRCm39)	T259I	probably benign	Het
Serpinb2	C	T	1: 107,451,620 (GRCm39)	H258Y	probably benign	Het
Serpinb2	C	A	1: 107,451,564 (GRCm39)	A239E	probably benign	Het
Serpinb8	A	G	1: 107,525,257 (GRCm39)	S20G	probably benign	Het
Serpinb8	A	C	1: 107,534,734 (GRCm39)	L268F	probably benign	Het
Serpinb8	G	A	1: 107,526,684 (GRCm39)	A75T	probably benign	Het
Shc3	A	T	13: 51,636,952 (GRCm39)	V72E	probably damaging	Het
Slc26a9	C	T	1: 131,691,608 (GRCm39)	A617V	probably benign	Het
Slc45a4	A	G	15: 73,457,887 (GRCm39)	I562T	probably damaging	Het
Smc6	T	G	12: 11,367,854 (GRCm39)	V1088G	probably benign	Het
Snx32	C	A	19: 5,546,139 (GRCm39)	R341L	probably benign	Het
Specc1	C	T	11: 62,009,644 (GRCm39)	Q467*	probably null	Het
Speer1c	T	C	5: 10,295,171 (GRCm39)	I90V	possibly damaging	Het
Spock3	A	T	8: 63,801,981 (GRCm39)	N323I	probably damaging	Het
Stac3	A	G	10: 127,343,635 (GRCm39)	K259R	probably benign	Het
Steap3	G	A	1: 120,162,108 (GRCm39)	A350V	probably benign	Het
Steap3	T	C	1: 120,155,480 (GRCm39)	N493S	probably benign	Het
Stx3	A	G	19: 11,762,887 (GRCm39)	I163T	probably damaging	Het
Suco	A	G	1: 161,655,224 (GRCm39)		probably null	Het
Syngr4	A	G	7: 45,538,146 (GRCm39)	F74S	possibly damaging	Het
Synpo2l	G	A	14: 20,715,887 (GRCm39)	P233S	probably damaging	Het
Tcf4	A	T	18: 69,776,041 (GRCm39)	T163S	probably damaging	Het
Thsd7b	G	C	1: 129,605,920 (GRCm39)	A554P	probably benign	Het
Thsd7b	A	C	1: 130,044,368 (GRCm39)	Q1116P	probably benign	Het
Thsd7b	C	T	1: 129,556,628 (GRCm39)	T328I	probably damaging	Het
Thsd7b	T	A	1: 129,595,674 (GRCm39)	F498Y	probably benign	Het
Tlk1	T	C	2: 70,551,421 (GRCm39)	Y634C	probably damaging	Het
Tnnt2	C	T	1: 135,773,244 (GRCm39)		probably benign	Het
Tox2	T	C	2: 163,089,705 (GRCm39)	Y66H	probably damaging	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ttyh1	G	A	7: 4,132,348 (GRCm39)	M261I	probably benign	Het
Ubap2	A	G	4: 41,206,849 (GRCm39)	V509A	probably benign	Het
Ube2t	C	T	1: 134,899,905 (GRCm39)	A149V	probably benign	Het
Ucp3	G	C	7: 100,131,927 (GRCm39)	M259I	probably benign	Het
Unc80	A	T	1: 66,567,051 (GRCm39)	N886Y	probably damaging	Het
Vmn1r197	T	A	13: 22,512,541 (GRCm39)	L154Q	possibly damaging	Het
Vmn1r40	T	A	6: 89,691,297 (GRCm39)	M38K	probably benign	Het
Vmn2r78	C	A	7: 86,569,997 (GRCm39)	Q172K	probably benign	Het
Ypel1	C	G	16: 16,907,283 (GRCm39)		probably benign	Het
Zc3h11a	C	T	1: 133,552,359 (GRCm39)	V583I	probably benign	Het
Zc3h11a	G	A	1: 133,549,892 (GRCm39)	P695S	probably benign	Het
Zfhx4	A	T	3: 5,466,790 (GRCm39)	D2316V	probably damaging	Het
Zfp108	T	C	7: 23,960,735 (GRCm39)	V442A	probably damaging	Het
Zfp260	A	T	7: 29,804,231 (GRCm39)	T44S	probably benign	Het
Zfp873	C	A	10: 81,896,541 (GRCm39)	T424N	probably damaging	Het
Zp3r	A	G	1: 130,524,551 (GRCm39)	L164P	probably benign	Het
Zp3r	C	A	1: 130,547,151 (GRCm39)	E8D	possibly damaging	Het
Zswim2	T	A	2: 83,745,684 (GRCm39)	K585*	probably null	Het

Other mutations in Shank2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Shank2	APN	7	143,965,584 (GRCm39)	missense	probably damaging	1.00
IGL00516:Shank2	APN	7	143,964,512 (GRCm39)	missense	possibly damaging	0.96
IGL00919:Shank2	APN	7	143,965,008 (GRCm39)	missense	probably damaging	0.97
IGL01450:Shank2	APN	7	143,838,805 (GRCm39)	nonsense	probably null
IGL01996:Shank2	APN	7	143,965,230 (GRCm39)	missense	probably damaging	1.00
IGL02217:Shank2	APN	7	143,838,784 (GRCm39)	missense	possibly damaging	0.59
IGL02314:Shank2	APN	7	143,965,008 (GRCm39)	missense	probably benign	0.01
IGL02320:Shank2	APN	7	143,974,681 (GRCm39)	missense	probably damaging	1.00
IGL02948:Shank2	APN	7	143,963,373 (GRCm39)	missense	probably benign	0.03
IGL02997:Shank2	APN	7	143,635,610 (GRCm39)	missense	probably benign	0.16
R0077:Shank2	UTSW	7	143,746,204 (GRCm39)	missense	possibly damaging	0.85
R0109:Shank2	UTSW	7	143,964,314 (GRCm39)	missense	possibly damaging	0.81
R0126:Shank2	UTSW	7	143,585,092 (GRCm39)	missense	probably damaging	0.99
R0153:Shank2	UTSW	7	143,623,872 (GRCm39)	missense	probably benign	0.04
R0644:Shank2	UTSW	7	143,965,586 (GRCm39)	missense	probably benign
R1072:Shank2	UTSW	7	143,965,305 (GRCm39)	missense	probably damaging	1.00
R1245:Shank2	UTSW	7	143,965,457 (GRCm39)	missense	probably benign	0.00
R1424:Shank2	UTSW	7	143,606,109 (GRCm39)	missense	probably damaging	0.99
R1712:Shank2	UTSW	7	143,964,890 (GRCm39)	missense	probably damaging	1.00
R1791:Shank2	UTSW	7	143,964,336 (GRCm39)	missense	probably damaging	1.00
R1889:Shank2	UTSW	7	143,740,595 (GRCm39)	nonsense	probably null
R2074:Shank2	UTSW	7	143,963,277 (GRCm39)	missense	probably damaging	1.00
R2135:Shank2	UTSW	7	143,964,971 (GRCm39)	missense	probably damaging	0.99
R2355:Shank2	UTSW	7	143,611,455 (GRCm39)	missense	possibly damaging	0.94
R2511:Shank2	UTSW	7	143,965,314 (GRCm39)	missense	probably damaging	1.00
R2517:Shank2	UTSW	7	143,606,042 (GRCm39)	missense	possibly damaging	0.89
R2570:Shank2	UTSW	7	143,622,507 (GRCm39)	missense	probably damaging	1.00
R2846:Shank2	UTSW	7	143,623,792 (GRCm39)	missense	probably damaging	1.00
R3159:Shank2	UTSW	7	143,635,611 (GRCm39)	missense	probably damaging	0.98
R3881:Shank2	UTSW	7	143,959,121 (GRCm39)	missense	probably benign
R3907:Shank2	UTSW	7	143,963,313 (GRCm39)	missense	probably damaging	1.00
R3938:Shank2	UTSW	7	143,682,112 (GRCm39)	missense	probably benign	0.20
R4151:Shank2	UTSW	7	143,608,565 (GRCm39)	missense	probably damaging	1.00
R4369:Shank2	UTSW	7	143,733,518 (GRCm39)	missense	probably damaging	0.99
R4372:Shank2	UTSW	7	143,964,599 (GRCm39)	missense	probably benign	0.09
R4519:Shank2	UTSW	7	143,963,942 (GRCm39)	missense	probably damaging	1.00
R4627:Shank2	UTSW	7	143,965,161 (GRCm39)	missense	probably damaging	1.00
R4645:Shank2	UTSW	7	143,964,159 (GRCm39)	missense	possibly damaging	0.65
R4647:Shank2	UTSW	7	143,965,566 (GRCm39)	missense	probably damaging	1.00
R4689:Shank2	UTSW	7	143,974,342 (GRCm39)	missense	probably benign	0.07
R4751:Shank2	UTSW	7	143,963,205 (GRCm39)	missense	probably damaging	1.00
R4816:Shank2	UTSW	7	143,606,043 (GRCm39)	missense	probably damaging	1.00
R4843:Shank2	UTSW	7	143,585,146 (GRCm39)	missense	probably benign	0.17
R4929:Shank2	UTSW	7	143,965,008 (GRCm39)	missense	probably benign	0.01
R5009:Shank2	UTSW	7	143,623,916 (GRCm39)	missense	probably benign	0.00
R5027:Shank2	UTSW	7	143,812,842 (GRCm39)	nonsense	probably null
R5165:Shank2	UTSW	7	143,963,373 (GRCm39)	missense	possibly damaging	0.62
R5278:Shank2	UTSW	7	143,622,612 (GRCm39)	critical splice donor site	probably null
R5332:Shank2	UTSW	7	143,965,029 (GRCm39)	missense	possibly damaging	0.82
R5497:Shank2	UTSW	7	143,963,271 (GRCm39)	missense	probably damaging	1.00
R5525:Shank2	UTSW	7	143,623,846 (GRCm39)	missense	probably damaging	1.00
R5575:Shank2	UTSW	7	143,963,871 (GRCm39)	missense	probably damaging	1.00
R5948:Shank2	UTSW	7	143,960,960 (GRCm39)	missense	probably damaging	0.98
R6024:Shank2	UTSW	7	143,733,768 (GRCm39)	missense	probably benign	0.12
R6306:Shank2	UTSW	7	143,963,417 (GRCm39)	missense	probably benign	0.00
R6317:Shank2	UTSW	7	143,838,821 (GRCm39)	missense	possibly damaging	0.89
R6358:Shank2	UTSW	7	143,585,034 (GRCm39)	missense	probably benign	0.25
R6364:Shank2	UTSW	7	143,964,146 (GRCm39)	missense	probably benign	0.14
R6413:Shank2	UTSW	7	143,963,955 (GRCm39)	missense	probably damaging	1.00
R6680:Shank2	UTSW	7	143,974,603 (GRCm39)	missense	probably damaging	1.00
R6834:Shank2	UTSW	7	143,963,631 (GRCm39)	missense	probably damaging	1.00
R6870:Shank2	UTSW	7	143,606,197 (GRCm39)	missense	probably damaging	0.99
R6933:Shank2	UTSW	7	143,645,515 (GRCm39)	missense	probably benign	0.19
R6983:Shank2	UTSW	7	143,635,585 (GRCm39)	missense	possibly damaging	0.94
R7082:Shank2	UTSW	7	143,964,096 (GRCm39)	missense	probably damaging	0.99
R7100:Shank2	UTSW	7	143,964,901 (GRCm39)	missense	possibly damaging	0.73
R7111:Shank2	UTSW	7	143,965,289 (GRCm39)	missense	probably benign	0.00
R7213:Shank2	UTSW	7	143,585,146 (GRCm39)	missense	probably benign	0.17
R7225:Shank2	UTSW	7	143,838,762 (GRCm39)	missense	probably benign	0.42
R7325:Shank2	UTSW	7	143,965,422 (GRCm39)	missense	probably benign	0.04
R7605:Shank2	UTSW	7	143,645,516 (GRCm39)	missense	possibly damaging	0.64
R7909:Shank2	UTSW	7	143,965,131 (GRCm39)	missense	probably damaging	1.00
R7976:Shank2	UTSW	7	143,964,798 (GRCm39)	missense	probably damaging	0.99
R8118:Shank2	UTSW	7	143,963,612 (GRCm39)	missense	probably benign	0.01
R8722:Shank2	UTSW	7	143,729,485 (GRCm39)	intron	probably benign
R8866:Shank2	UTSW	7	143,964,986 (GRCm39)	missense	probably benign
R8919:Shank2	UTSW	7	143,965,265 (GRCm39)	missense	probably damaging	1.00
R8944:Shank2	UTSW	7	143,623,927 (GRCm39)	missense	probably damaging	1.00
R9033:Shank2	UTSW	7	143,965,236 (GRCm39)	missense	probably damaging	0.99
R9091:Shank2	UTSW	7	143,963,705 (GRCm39)	missense	possibly damaging	0.76
R9252:Shank2	UTSW	7	143,622,535 (GRCm39)	missense	possibly damaging	0.96
R9270:Shank2	UTSW	7	143,963,705 (GRCm39)	missense	possibly damaging	0.76
R9350:Shank2	UTSW	7	143,960,945 (GRCm39)	missense	probably benign	0.00
R9362:Shank2	UTSW	7	143,963,271 (GRCm39)	missense	probably damaging	1.00
R9471:Shank2	UTSW	7	143,964,752 (GRCm39)	missense	possibly damaging	0.77
R9524:Shank2	UTSW	7	143,964,183 (GRCm39)	missense	possibly damaging	0.71
R9557:Shank2	UTSW	7	143,963,847 (GRCm39)	missense	probably benign	0.00
R9559:Shank2	UTSW	7	143,585,041 (GRCm39)	missense	probably benign	0.30
R9574:Shank2	UTSW	7	143,622,462 (GRCm39)	missense	possibly damaging	0.90
R9680:Shank2	UTSW	7	143,964,837 (GRCm39)	missense	probably damaging	0.96
R9720:Shank2	UTSW	7	143,682,137 (GRCm39)	missense	probably damaging	0.99
RF009:Shank2	UTSW	7	143,965,308 (GRCm39)	missense	possibly damaging	0.81
Z1176:Shank2	UTSW	7	143,682,114 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGACATGGGGAAGCCCATCCTTAC -3'
(R):5'- TACCACCCAGCCTGTTGAGTGAAG -3'

Sequencing Primer
(F):5'- TCTCCCTGATGAAGGCATGG -3'
(R):5'- CCTGTTGAGTGAAGGGGAAC -3'

Posted On

2014-05-23