Incidental Mutation 'R9720:Shank2'
ID 730722
Institutional Source Beutler Lab
Gene Symbol Shank2
Ensembl Gene ENSMUSG00000037541
Gene Name SH3 and multiple ankyrin repeat domains 2
Synonyms ProSAP1
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9720 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 143555665-143978231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 143682137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 390 (D390V)
Ref Sequence ENSEMBL: ENSMUSP00000101522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105902] [ENSMUST00000213146]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000105902
AA Change: D390V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101522
Gene: ENSMUSG00000037541
AA Change: D390V

DomainStartEndE-ValueType
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: D390V

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T G 11: 84,154,183 (GRCm39) V968G probably damaging Het
Adam33 A G 2: 130,900,236 (GRCm39) V110A Het
Adamts2 T C 11: 50,666,954 (GRCm39) M417T probably damaging Het
Adgrv1 A G 13: 81,740,693 (GRCm39) I145T probably damaging Het
Ampd3 C A 7: 110,377,056 (GRCm39) H16N probably benign Het
Ank3 A T 10: 69,825,335 (GRCm39) S1335C Het
Ankrd26 G A 6: 118,498,902 (GRCm39) S1208L probably damaging Het
Atmin G A 8: 117,681,653 (GRCm39) probably null Het
AU018091 T C 7: 3,209,272 (GRCm39) T323A probably benign Het
Barx2 A G 9: 31,765,407 (GRCm39) probably null Het
Bltp3b T A 10: 89,641,219 (GRCm39) S797T probably benign Het
Brpf3 A G 17: 29,026,330 (GRCm39) I468V probably benign Het
Cacna1g T A 11: 94,302,297 (GRCm39) H1985L probably benign Het
Cass4 T C 2: 172,269,568 (GRCm39) V550A probably benign Het
Ccdc88a A G 11: 29,413,813 (GRCm39) S784G probably benign Het
Cd300ld2 C T 11: 114,903,118 (GRCm39) probably null Het
Cgn G A 3: 94,686,621 (GRCm39) A227V probably benign Het
Clcn7 G T 17: 25,374,471 (GRCm39) R524L probably damaging Het
Cldn22 G A 8: 48,277,786 (GRCm39) A75T probably benign Het
Ddb1 A G 19: 10,585,724 (GRCm39) D146G probably benign Het
Dhx32 C A 7: 133,324,857 (GRCm39) E607* probably null Het
Egfem1 A G 3: 29,716,580 (GRCm39) Y350C probably damaging Het
Eri2 T A 7: 119,386,976 (GRCm39) D181V probably damaging Het
Gabrg2 T C 11: 41,862,673 (GRCm39) N137S probably damaging Het
Gar1 C T 3: 129,620,497 (GRCm39) G197S unknown Het
Ggta1 G T 2: 35,303,418 (GRCm39) D91E probably benign Het
Hap1 T A 11: 100,246,696 (GRCm39) I70F probably benign Het
Hars2 A G 18: 36,920,607 (GRCm39) Y150C probably damaging Het
Igsf9b G A 9: 27,220,810 (GRCm39) V59I probably damaging Het
Il15 T G 8: 83,058,608 (GRCm39) K142Q probably damaging Het
Klhl23 T C 2: 69,654,804 (GRCm39) Y225H possibly damaging Het
Krt6b T A 15: 101,588,226 (GRCm39) I145F probably benign Het
Lgals3bp T A 11: 118,284,083 (GRCm39) T499S probably benign Het
Lrriq4 A G 3: 30,714,077 (GRCm39) N490S probably damaging Het
Ltbr G A 6: 125,284,348 (GRCm39) R365W probably damaging Het
Mical3 A G 6: 120,935,238 (GRCm39) S1763P probably damaging Het
Ncoa6 A G 2: 155,250,304 (GRCm39) V1000A probably damaging Het
Nefm A G 14: 68,358,793 (GRCm39) S414P probably benign Het
Nphs1 T C 7: 30,165,499 (GRCm39) V622A possibly damaging Het
Or6c76 T C 10: 129,612,581 (GRCm39) V281A probably benign Het
Or6d14 T C 6: 116,534,016 (GRCm39) V210A possibly damaging Het
Pde4dip T C 3: 97,603,287 (GRCm39) D2234G probably damaging Het
Pde6c A T 19: 38,157,887 (GRCm39) Y637F probably benign Het
Pigg T A 5: 108,467,800 (GRCm39) C266* probably null Het
Pkdrej A T 15: 85,702,497 (GRCm39) D1146E possibly damaging Het
Pkp2 T C 16: 16,087,584 (GRCm39) V756A probably benign Het
Pole C T 5: 110,484,909 (GRCm39) T2245I probably benign Het
Ppm1g A C 5: 31,360,914 (GRCm39) probably null Het
Ppp1r36 A G 12: 76,485,298 (GRCm39) I340M possibly damaging Het
Pvr G A 7: 19,643,121 (GRCm39) R371* probably null Het
Rassf9 G A 10: 102,348,369 (GRCm39) probably benign Het
Rtl1 A C 12: 109,559,882 (GRCm39) N652K possibly damaging Het
Sall4 G C 2: 168,592,160 (GRCm39) S998C probably damaging Het
Sdk1 T C 5: 142,197,796 (GRCm39) Y2150H probably damaging Het
Serpinb3b A T 1: 107,083,669 (GRCm39) I170K probably benign Het
Slc39a4 A G 15: 76,500,930 (GRCm39) V11A probably benign Het
Synj2 C T 17: 6,040,584 (GRCm39) T220I probably benign Het
Taar7a A G 10: 23,868,733 (GRCm39) I216T probably benign Het
Tas2r122 G T 6: 132,688,634 (GRCm39) D86E probably benign Het
Tbxa2r T A 10: 81,169,018 (GRCm39) C236S probably benign Het
Trav13d-4 C A 14: 53,995,286 (GRCm39) T80K probably benign Het
Trav6d-5 T A 14: 53,033,077 (GRCm39) C109S probably damaging Het
Trio A G 15: 27,847,495 (GRCm39) M982T probably benign Het
Unc80 A T 1: 66,683,485 (GRCm39) T2176S possibly damaging Het
Ypel1 T C 16: 16,910,890 (GRCm39) T259A probably damaging Het
Zfp120 A T 2: 149,959,197 (GRCm39) I397K probably benign Het
Other mutations in Shank2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGTGGTCATTTTCTTGAGACCC -3'
(R):5'- TGCACACTTCACATGTGCC -3'

Sequencing Primer
(F):5'- ACTCTAACCTGGAGTTGTAAGGC -3'
(R):5'- GCACACTTCACATGTGCCTGTAG -3'
Posted On 2022-10-06