Incidental Mutation 'R3938:Shank2'
ID 307278
Institutional Source Beutler Lab
Gene Symbol Shank2
Ensembl Gene ENSMUSG00000037541
Gene Name SH3 and multiple ankyrin repeat domains 2
Synonyms ProSAP1
MMRRC Submission 040825-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3938 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 143555665-143978231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143682112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 382 (Y382H)
Ref Sequence ENSEMBL: ENSMUSP00000101522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105902] [ENSMUST00000213146]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000105902
AA Change: Y382H

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101522
Gene: ENSMUSG00000037541
AA Change: Y382H

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: Y382H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0771 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (57/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 C T 16: 85,592,507 (GRCm39) V634M possibly damaging Het
Arid4b A T 13: 14,361,513 (GRCm39) N659I probably benign Het
BC049715 T C 6: 136,817,453 (GRCm39) I231T possibly damaging Het
Bmp4 T C 14: 46,621,536 (GRCm39) Y336C probably damaging Het
Ccdc30 G A 4: 119,209,870 (GRCm39) T293I probably benign Het
Chd5 A T 4: 152,461,512 (GRCm39) T1275S probably benign Het
Chtf8 A T 8: 107,612,537 (GRCm39) M134K probably benign Het
Col11a2 A T 17: 34,258,599 (GRCm39) probably benign Het
Cyp8b1 A G 9: 121,744,684 (GRCm39) V216A probably benign Het
Dnah8 C T 17: 31,073,911 (GRCm39) T4527M probably damaging Het
Elavl3 A G 9: 21,930,040 (GRCm39) V288A probably damaging Het
Erap1 T A 13: 74,816,147 (GRCm39) L92Q probably damaging Het
Exoc3l G T 8: 106,020,037 (GRCm39) P296H probably damaging Het
Fcgbpl1 C T 7: 27,853,719 (GRCm39) P1561L probably damaging Het
Foxl3 A T 5: 138,806,723 (GRCm39) N78Y probably damaging Het
Hacl1 T C 14: 31,356,148 (GRCm39) probably benign Het
Hrnr T A 3: 93,230,162 (GRCm39) N133K probably benign Het
Itgax G T 7: 127,735,445 (GRCm39) R504S possibly damaging Het
Itgb4 A G 11: 115,896,752 (GRCm39) S1461G possibly damaging Het
Klkb1 G T 8: 45,735,838 (GRCm39) T175K probably damaging Het
Lrrk2 A T 15: 91,596,983 (GRCm39) D525V possibly damaging Het
Lrrk2 C A 15: 91,662,707 (GRCm39) T1912K probably damaging Het
Mdga1 G T 17: 30,076,596 (GRCm39) Q59K probably damaging Het
Mpp4 A G 1: 59,163,842 (GRCm39) V466A possibly damaging Het
Myh6 T C 14: 55,200,512 (GRCm39) D203G probably benign Het
Myo5b T C 18: 74,849,108 (GRCm39) S1116P probably damaging Het
Nemp1 T C 10: 127,531,342 (GRCm39) L311P probably damaging Het
Nup205 A G 6: 35,196,677 (GRCm39) R1138G probably damaging Het
Nup54 A G 5: 92,565,388 (GRCm39) M443T probably damaging Het
Peak1 T C 9: 56,167,649 (GRCm39) E93G probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plekhj1 A G 10: 80,633,609 (GRCm39) I76T probably damaging Het
Poll A G 19: 45,546,857 (GRCm39) probably benign Het
Ppp1r3a A T 6: 14,719,073 (GRCm39) S614T probably damaging Het
Pygm A T 19: 6,442,980 (GRCm39) I556F probably benign Het
Ranbp2 T C 10: 58,312,294 (GRCm39) F1005L probably benign Het
Rcor3 G T 1: 191,785,385 (GRCm39) T361K possibly damaging Het
Robo4 A G 9: 37,313,313 (GRCm39) probably benign Het
Rps15 T C 10: 80,129,673 (GRCm39) V96A probably benign Het
Rrm2 T A 12: 24,759,431 (GRCm39) N55K probably damaging Het
Slc25a10 G T 11: 120,382,819 (GRCm39) E3* probably null Het
Slc7a8 T A 14: 54,973,298 (GRCm39) E223V probably benign Het
Snx13 A G 12: 35,194,096 (GRCm39) K880E probably benign Het
Spinkl T G 18: 44,301,216 (GRCm39) M41L probably benign Het
Srp54a A C 12: 55,136,042 (GRCm39) N19T probably benign Het
Sun2 T C 15: 79,618,356 (GRCm39) K268E probably benign Het
Sytl1 G A 4: 132,982,935 (GRCm39) Q359* probably null Het
Tlr6 A T 5: 65,110,938 (GRCm39) F656L probably damaging Het
Tmem185a C T X: 69,505,792 (GRCm39) probably null Het
Tmem45a2 C T 16: 56,859,398 (GRCm39) D278N probably benign Het
Trav7-1 T C 14: 52,892,791 (GRCm39) probably benign Het
Trpc2 T A 7: 101,742,781 (GRCm39) M597K probably damaging Het
Ttc21a A G 9: 119,779,882 (GRCm39) probably benign Het
Usp9y C T Y: 1,313,741 (GRCm39) M2188I probably damaging Het
Utrn C A 10: 12,625,774 (GRCm39) probably null Het
Vmn1r35 T A 6: 66,656,057 (GRCm39) R204S probably damaging Het
Zfp955b T A 17: 33,524,390 (GRCm39) Y59F probably damaging 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
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'- TGTGGTCATTTTCTTGAGACCC -3'
(R):5'- CACTTCACATGTGCCTGTAGC -3'

Sequencing Primer
(F):5'- ACTCTAACCTGGAGTTGTAAGGC -3'
(R):5'- TCAGGAGAGAGGAGAGTGGTACTC -3'
Posted On 2015-04-17