Mutagenetix > Incidental Mutation

Incidental Mutation 'R2517:Shank2'

253937

Institutional Source

Beutler Lab

Gene Symbol

Shank2

Ensembl Gene

ENSMUSG00000037541

Gene Name

SH3 and multiple ankyrin repeat domains 2

Synonyms

ProSAP1

MMRRC Submission

040421-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2517 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143555665-143978231 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143606042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 75 (N75S)

Ref Sequence

ENSEMBL: ENSMUSP00000101522 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105902
AA Change: N75S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101522
Gene: ENSMUSG00000037541
AA Change: N75S

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 benign
Transcript: ENSMUST00000213146
AA Change: N75S

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.2%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	C	A	14: 56,019,403 (GRCm39)	E82D	probably damaging	Het
Ago1	G	A	4: 126,333,732 (GRCm39)	R486*	probably null	Het
Ago2	T	A	15: 72,996,091 (GRCm39)	N346I	possibly damaging	Het
Apol11a	A	T	15: 77,401,395 (GRCm39)	D294V	probably benign	Het
Atp13a5	A	G	16: 29,116,215 (GRCm39)	F634L	possibly damaging	Het
Atp2a2	G	A	5: 122,595,576 (GRCm39)	P953L	probably damaging	Het
Brca2	A	G	5: 150,463,137 (GRCm39)	D967G	probably benign	Het
Bud13	A	T	9: 46,199,446 (GRCm39)	H269L	probably benign	Het
Cachd1	A	T	4: 100,838,079 (GRCm39)		probably null	Het
Cog3	T	C	14: 75,979,182 (GRCm39)	D188G	probably benign	Het
Col15a1	T	C	4: 47,208,492 (GRCm39)	S20P	probably damaging	Het
Col4a3	A	G	1: 82,658,431 (GRCm39)	D838G	unknown	Het
Cwh43	A	T	5: 73,578,886 (GRCm39)	T298S	probably benign	Het
Dip2c	A	G	13: 9,659,041 (GRCm39)	R847G	probably damaging	Het
Dnah2	C	T	11: 69,407,470 (GRCm39)	D438N	probably damaging	Het
Drg2	T	C	11: 60,358,954 (GRCm39)	V358A	probably damaging	Het
Eif4enif1	T	A	11: 3,171,168 (GRCm39)	W220R	probably damaging	Het
Enpp2	A	T	15: 54,783,090 (GRCm39)	I75K	probably damaging	Het
Fam110c	T	C	12: 31,125,238 (GRCm39)	I400T	probably damaging	Het
Fam193b	C	A	13: 55,690,629 (GRCm39)	R711L	probably damaging	Het
Fgfr1	T	C	8: 26,053,462 (GRCm39)	Y246H	probably damaging	Het
Frs3	G	A	17: 48,013,997 (GRCm39)	R230Q	probably benign	Het
Galnt5	A	G	2: 57,889,425 (GRCm39)	K342E	probably benign	Het
Glrb	A	T	3: 80,769,054 (GRCm39)	L189Q	probably damaging	Het
Gmeb2	T	C	2: 180,900,819 (GRCm39)	T193A	probably benign	Het
Gnl3	A	G	14: 30,736,120 (GRCm39)	S307P	probably damaging	Het
Golim4	A	T	3: 75,800,166 (GRCm39)	F443I	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Klf10	A	C	15: 38,297,357 (GRCm39)	Y228D	probably benign	Het
Klrc3	A	T	6: 129,616,520 (GRCm39)	W166R	probably damaging	Het
Kng2	A	T	16: 22,807,065 (GRCm39)	I378N	probably benign	Het
Map3k10	T	C	7: 27,362,688 (GRCm39)	K466R	possibly damaging	Het
Mrrf	C	T	2: 36,079,109 (GRCm39)	T245M	probably benign	Het
Msi1	A	G	5: 115,583,517 (GRCm39)	Y239C	probably damaging	Het
Nfasc	A	G	1: 132,525,501 (GRCm39)		probably null	Het
Or1x6	T	A	11: 50,939,300 (GRCm39)	L122Q	probably damaging	Het
Or7g25	A	T	9: 19,160,357 (GRCm39)	C113S	probably benign	Het
P3r3urf	A	G	4: 116,030,791 (GRCm39)	D65G	probably benign	Het
Pkd1l1	T	C	11: 8,908,900 (GRCm39)	E368G	unknown	Het
Polq	G	A	16: 36,909,687 (GRCm39)	G2078D	probably damaging	Het
Ppfibp1	A	C	6: 146,893,942 (GRCm39)	I134L	probably damaging	Het
Rasip1	A	T	7: 45,284,247 (GRCm39)	I608F	probably damaging	Het
Ripk3	A	T	14: 56,025,492 (GRCm39)	V24E	probably damaging	Het
Rtkn	T	A	6: 83,124,526 (GRCm39)	I110N	probably damaging	Het
Scn1a	C	T	2: 66,104,176 (GRCm39)	V1695I	probably damaging	Het
Snu13	C	A	15: 81,928,182 (GRCm39)	A14S	probably benign	Het
Snx27	A	C	3: 94,438,541 (GRCm39)	D231E	probably damaging	Het
Spef2	A	G	15: 9,725,283 (GRCm39)	I158T	possibly damaging	Het
Sptb	A	G	12: 76,696,643 (GRCm39)	I19T	possibly damaging	Het
Ssu72	T	C	4: 155,817,970 (GRCm39)	L175P	probably damaging	Het
Tcstv2a	T	A	13: 120,725,475 (GRCm39)	C46*	probably null	Het
Tecr	C	T	8: 84,299,204 (GRCm39)	V248I	probably benign	Het
Tnfrsf13b	T	G	11: 61,032,302 (GRCm39)	S59A	probably benign	Het
Tom1l1	T	C	11: 90,561,951 (GRCm39)	T150A	possibly damaging	Het
Ubr3	A	T	2: 69,766,362 (GRCm39)	Y410F	probably damaging	Het
Vmn2r108	A	G	17: 20,692,577 (GRCm39)	I93T	probably damaging	Het
Vmn2r19	A	G	6: 123,306,937 (GRCm39)	T482A	probably benign	Het
Vstm4	T	A	14: 32,585,664 (GRCm39)	M77K	probably benign	Het
Zbtb17	C	T	4: 141,191,896 (GRCm39)	T309I	probably damaging	Het
Zfp957	T	C	14: 79,451,494 (GRCm39)	T102A	probably damaging	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
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'- AGAGGGCAGGCACTTCATTG -3'
(R):5'- GTTACCTCCAAGGAAGGCAC -3'

Sequencing Primer
(F):5'- GGCAGGCACTTCATTGATTTCCAG -3'
(R):5'- CAAGGAAGGCACACCCGG -3'

Posted On

2014-12-04