Mutagenetix > Incidental Mutation

Incidental Mutation 'R4751:Shank2'

357600

Institutional Source

Beutler Lab

Gene Symbol

Shank2

Ensembl Gene

ENSMUSG00000037541

Gene Name

SH3 and multiple ankyrin repeat domains 2

Synonyms

ProSAP1

MMRRC Submission

041970-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143555665-143978231 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 143963205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 264 (T264I)

Ref Sequence

ENSEMBL: ENSMUSP00000095542 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097929] [ENSMUST00000105900] [ENSMUST00000105902] [ENSMUST00000146006]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000097929
AA Change: T264I

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

SMART Domains

Protein: ENSMUSP00000095542
Gene: ENSMUSG00000037541
AA Change: T264I

Domain	Start	End	E-Value	Type
PDZ	46	131	1.75e-14	SMART
low complexity region	135	154	N/A	INTRINSIC
low complexity region	299	314	N/A	INTRINSIC
low complexity region	452	464	N/A	INTRINSIC
low complexity region	539	550	N/A	INTRINSIC
low complexity region	570	582	N/A	INTRINSIC
low complexity region	619	637	N/A	INTRINSIC
low complexity region	814	828	N/A	INTRINSIC
low complexity region	883	894	N/A	INTRINSIC
low complexity region	915	937	N/A	INTRINSIC
low complexity region	951	967	N/A	INTRINSIC
low complexity region	989	997	N/A	INTRINSIC
low complexity region	1077	1091	N/A	INTRINSIC
low complexity region	1134	1149	N/A	INTRINSIC
low complexity region	1173	1187	N/A	INTRINSIC
SAM	1196	1262	2.52e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105900
AA Change: T481I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101520
Gene: ENSMUSG00000037541
AA Change: T481I

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: T850I

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

SMART Domains

Protein: ENSMUSP00000101522
Gene: ENSMUSG00000037541
AA Change: T850I

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

noncoding transcript
Transcript: ENSMUST00000125355

Predicted Effect

probably damaging
Transcript: ENSMUST00000146006
AA Change: T271I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.1257

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

95% (124/131)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	T	7: 127,836,258 (GRCm39)	C112S	probably benign	Het
Abca13	G	A	11: 9,227,973 (GRCm39)		probably null	Het
Abca14	A	G	7: 119,911,400 (GRCm39)	E1328G	probably benign	Het
Abca9	T	A	11: 110,021,396 (GRCm39)	I1105F	probably benign	Het
Abr	T	C	11: 76,347,434 (GRCm39)	N396D	possibly damaging	Het
Aftph	A	C	11: 20,677,074 (GRCm39)	C178W	probably damaging	Het
Akr1c14	T	C	13: 4,115,338 (GRCm39)	F89S	possibly damaging	Het
Ank3	C	T	10: 69,822,036 (GRCm39)	A1518V	probably benign	Het
Arfgap2	T	G	2: 91,097,713 (GRCm39)	S143R	probably benign	Het
Aspdh	T	A	7: 44,116,629 (GRCm39)	C107*	probably null	Het
Asphd2	C	A	5: 112,539,612 (GRCm39)	G74W	probably damaging	Het
AU040320	G	A	4: 126,748,259 (GRCm39)		probably null	Het
B3glct	T	A	5: 149,648,867 (GRCm39)		probably null	Het
Bcl9l	A	G	9: 44,418,100 (GRCm39)	K646R	probably damaging	Het
Brat1	T	G	5: 140,704,051 (GRCm39)	L768R	probably damaging	Het
Btbd18	T	A	2: 84,498,265 (GRCm39)	Y634*	probably null	Het
Bub1	T	A	2: 127,665,858 (GRCm39)		probably benign	Het
Carns1	A	T	19: 4,216,417 (GRCm39)	D588E	probably damaging	Het
Cast	T	C	13: 74,894,166 (GRCm39)	K141E	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Chsy3	T	C	18: 59,308,872 (GRCm39)	S42P	possibly damaging	Het
Clca3a1	A	T	3: 144,710,609 (GRCm39)	F865I	possibly damaging	Het
Clec4f	T	A	6: 83,622,264 (GRCm39)	M526L	possibly damaging	Het
Clnk	T	C	5: 38,878,256 (GRCm39)	E301G	probably benign	Het
Colgalt2	T	A	1: 152,365,627 (GRCm39)	I309N	probably benign	Het
Cyp2e1	A	T	7: 140,354,629 (GRCm39)	K326*	probably null	Het
Dagla	T	A	19: 10,227,758 (GRCm39)	T717S	probably benign	Het
Dnajc11	G	A	4: 152,052,999 (GRCm39)	R141H	probably benign	Het
Dst	A	G	1: 34,230,965 (GRCm39)	K2853E	probably benign	Het
Eif4g1	A	G	16: 20,505,265 (GRCm39)	K1208E	possibly damaging	Het
Elane	A	G	10: 79,722,625 (GRCm39)	R48G	probably benign	Het
Fbxo30	T	A	10: 11,165,939 (GRCm39)	N220K	probably benign	Het
Fbxo33	A	T	12: 59,247,714 (GRCm39)		probably benign	Het
Fetub	G	A	16: 22,756,645 (GRCm39)	V169I	probably benign	Het
Gpx6	A	C	13: 21,501,234 (GRCm39)	Q107H	probably damaging	Het
H2bc18	A	T	3: 96,176,467 (GRCm39)		probably benign	Het
Homer3	A	T	8: 70,738,084 (GRCm39)	I19F	probably damaging	Het
Hspa4	C	T	11: 53,175,026 (GRCm39)	V144I	probably benign	Het
Icos	C	T	1: 61,032,876 (GRCm39)	S25L	probably benign	Het
Ifna4	A	G	4: 88,760,185 (GRCm39)	T30A	probably benign	Het
Ino80b	C	T	6: 83,101,731 (GRCm39)	G46D	probably damaging	Het
Kpna2	T	G	11: 106,883,490 (GRCm39)	I100L	possibly damaging	Het
Krt71	C	T	15: 101,643,901 (GRCm39)	G446R	probably damaging	Het
Krtap31-2	A	G	11: 99,827,402 (GRCm39)	N78S	possibly damaging	Het
Lman1	A	G	18: 66,131,505 (GRCm39)	S132P	probably benign	Het
Lmna	T	C	3: 88,393,840 (GRCm39)	Q246R	possibly damaging	Het
Lrp10	T	A	14: 54,706,049 (GRCm39)	V413E	probably damaging	Het
Macf1	A	C	4: 123,365,443 (GRCm39)	I1541S	probably benign	Het
Med24	A	G	11: 98,597,258 (GRCm39)	L874P	probably damaging	Het
Mgll	T	A	6: 88,702,093 (GRCm39)		probably benign	Het
Mrpl37	A	T	4: 106,914,672 (GRCm39)	L364Q	probably damaging	Het
Mrpl47	C	T	3: 32,782,590 (GRCm39)	R209H	probably benign	Het
Muc5ac	T	C	7: 141,371,338 (GRCm39)	F3285L	probably benign	Het
Mylk	A	G	16: 34,699,539 (GRCm39)	R301G	probably benign	Het
Nacad	A	G	11: 6,555,726 (GRCm39)	L8P	unknown	Het
Ncf1	T	A	5: 134,258,399 (GRCm39)	H8L	probably damaging	Het
Ncoa3	T	A	2: 165,911,823 (GRCm39)	M1383K	possibly damaging	Het
Necab2	C	T	8: 120,194,337 (GRCm39)	S271L	probably benign	Het
Nme8	A	T	13: 19,859,808 (GRCm39)		probably null	Het
Nsrp1	T	G	11: 76,967,545 (GRCm39)	T16P	possibly damaging	Het
Obox3	A	T	7: 15,359,617 (GRCm39)		probably null	Het
Or1l8	T	C	2: 36,817,595 (GRCm39)	H177R	probably damaging	Het
Or4c108	A	G	2: 88,803,477 (GRCm39)	C253R	probably damaging	Het
Or4c15	T	A	2: 88,760,258 (GRCm39)	I134F	probably damaging	Het
Or4d6	T	A	19: 12,086,541 (GRCm39)	Y123F	probably damaging	Het
Or52n2b	A	T	7: 104,565,617 (GRCm39)	Y295*	probably null	Het
Or6b2	C	A	1: 92,407,705 (GRCm39)	A213S	probably benign	Het
Osbpl3	C	G	6: 50,277,977 (GRCm39)	E790Q	possibly damaging	Het
Osmr	A	T	15: 6,872,333 (GRCm39)	W254R	probably damaging	Het
Otoa	T	C	7: 120,732,147 (GRCm39)		probably benign	Het
Pagr1a	A	T	7: 126,614,551 (GRCm39)	L218H	probably damaging	Het
Pcdha11	G	A	18: 37,139,997 (GRCm39)	G542D	probably damaging	Het
Pck2	T	A	14: 55,780,018 (GRCm39)	I54N	probably damaging	Het
Ppif	T	C	14: 25,699,923 (GRCm39)	V173A	probably damaging	Het
Ptgs2	T	A	1: 149,979,771 (GRCm39)	L292H	probably damaging	Het
Ptpru	A	G	4: 131,529,897 (GRCm39)	S604P	probably damaging	Het
Qrfpr	T	C	3: 36,236,771 (GRCm39)	H210R	possibly damaging	Het
Rasgrf1	A	G	9: 89,792,171 (GRCm39)	T41A	probably damaging	Het
Rasgrf1	A	G	9: 89,894,919 (GRCm39)	H1113R	probably damaging	Het
Rhoc	T	A	3: 104,699,963 (GRCm39)	I80N	probably damaging	Het
Riok3	A	G	18: 12,287,040 (GRCm39)	N472S	probably benign	Het
Rnf213	A	G	11: 119,336,571 (GRCm39)	Y3314C	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l1	A	G	12: 82,387,968 (GRCm39)	I65V	probably benign	Het
Slc22a19	T	C	19: 7,668,510 (GRCm39)	K291R	possibly damaging	Het
Slc22a20	T	C	19: 6,030,488 (GRCm39)	I315V	probably benign	Het
Slc44a1	A	T	4: 53,560,973 (GRCm39)	D563V	probably damaging	Het
Smchd1	A	T	17: 71,698,463 (GRCm39)	H1104Q	probably benign	Het
Spcs2	A	T	7: 99,493,976 (GRCm39)		probably null	Het
Speer1e	T	A	5: 11,236,458 (GRCm39)	Y138N	probably damaging	Het
Sptb	T	C	12: 76,673,884 (GRCm39)	E301G	probably benign	Het
Stum	T	C	1: 180,270,234 (GRCm39)	D86G	probably damaging	Het
Sufu	A	T	19: 46,472,088 (GRCm39)	D449V	probably benign	Het
Sun5	T	C	2: 153,707,936 (GRCm39)		probably null	Het
Tbc1d15	T	A	10: 115,038,492 (GRCm39)	I574F	probably damaging	Het
Tert	G	A	13: 73,776,182 (GRCm39)	S311N	possibly damaging	Het
Tiparp	T	C	3: 65,460,225 (GRCm39)	Y507H	probably damaging	Het
Tnk2	T	C	16: 32,498,675 (GRCm39)	C158R	probably damaging	Het
Tpgs1	T	C	10: 79,511,454 (GRCm39)	S199P	possibly damaging	Het
Trdmt1	G	T	2: 13,549,464 (GRCm39)		probably benign	Het
Trp53bp1	T	A	2: 121,058,290 (GRCm39)	D944V	probably damaging	Het
Tsc1	T	A	2: 28,569,093 (GRCm39)	I720N	probably damaging	Het
Ttn	T	C	2: 76,539,949 (GRCm39)	T34346A	probably benign	Het
Ttn	T	C	2: 76,727,925 (GRCm39)		probably benign	Het
Uba7	T	A	9: 107,857,004 (GRCm39)	C686S	possibly damaging	Het
Ush2a	T	A	1: 188,582,284 (GRCm39)	F3782L	probably damaging	Het
Vars2	A	T	17: 35,970,235 (GRCm39)	H745Q	possibly damaging	Het
Vgf	T	A	5: 137,061,255 (GRCm39)	D472E	probably damaging	Het
Vmn2r15	T	C	5: 109,434,620 (GRCm39)	M695V	probably benign	Het
Vps41	A	T	13: 18,995,792 (GRCm39)	D208V	probably damaging	Het
Vta1	C	T	10: 14,531,560 (GRCm39)	A272T	probably benign	Het
Wnk4	G	A	11: 101,167,188 (GRCm39)		probably benign	Het
Zfp507	T	C	7: 35,493,807 (GRCm39)	K412R	probably damaging	Het
Zfp768	A	G	7: 126,943,934 (GRCm39)	F65L	possibly damaging	Het
Zfp956	T	C	6: 47,940,510 (GRCm39)	S290P	probably benign	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
R1739:Shank2	UTSW	7	143,733,590 (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
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'- AAATCCCTACATGCGTTCGTTC -3'
(R):5'- GCGGGCTTAATTGTCCCATAG -3'

Sequencing Primer
(F):5'- CATGCGTTCGTTCATCATAAATACC -3'
(R):5'- AATTGTCCCATAGACTCTTGGAG -3'

Posted On

2015-11-11