Incidental Mutation 'R6364:Shank2'
ID 513416
Institutional Source Beutler Lab
Gene Symbol Shank2
Ensembl Gene ENSMUSG00000037541
Gene Name SH3 and multiple ankyrin repeat domains 2
Synonyms ProSAP1
MMRRC Submission 044514-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6364 (G1)
Quality Score 181.009
Status Validated
Chromosome 7
Chromosomal Location 143555665-143978231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143964146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 795 (S795G)
Ref Sequence ENSEMBL: ENSMUSP00000101520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097929] [ENSMUST00000105900] [ENSMUST00000105902] [ENSMUST00000146006]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000097929
AA Change: S578G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000095542
Gene: ENSMUSG00000037541
AA Change: S578G

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000105900
AA Change: S795G

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101520
Gene: ENSMUSG00000037541
AA Change: S795G

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000105902
AA Change: S1164G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101522
Gene: ENSMUSG00000037541
AA Change: S1164G

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 noncoding transcript
Transcript: ENSMUST00000125355
Predicted Effect probably benign
Transcript: ENSMUST00000146006
AA Change: S585G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 99% (69/70)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,869,673 (GRCm39) Y234C possibly damaging Het
Ambra1 C A 2: 91,603,661 (GRCm39) H548Q possibly damaging Het
Ap3d1 T C 10: 80,546,328 (GRCm39) probably null Het
Apol11b A G 15: 77,522,258 (GRCm39) V13A possibly damaging Het
Arhgdib C T 6: 136,909,253 (GRCm39) probably null Het
B3galt1 T A 2: 67,949,016 (GRCm39) S244T probably damaging Het
Bace2 A G 16: 97,214,633 (GRCm39) I274V probably benign Het
Bfsp2 A T 9: 103,325,827 (GRCm39) V272D probably damaging Het
Blm A T 7: 80,144,274 (GRCm39) C782* probably null Het
Cfi G A 3: 129,666,495 (GRCm39) S406N probably benign Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Cic C A 7: 24,972,248 (GRCm39) H660N possibly damaging Het
Cops3 A G 11: 59,726,230 (GRCm39) probably benign Het
Dlec1 G A 9: 118,950,939 (GRCm39) V502I possibly damaging Het
Dync2i1 A T 12: 116,205,352 (GRCm39) D412E probably damaging Het
Epop A G 11: 97,519,513 (GRCm39) S199P probably benign Het
Evi5 G T 5: 107,989,979 (GRCm39) P80Q probably damaging Het
Faf1 T C 4: 109,818,997 (GRCm39) V623A possibly damaging Het
Fam83c T C 2: 155,676,443 (GRCm39) D109G probably damaging Het
Fam83d T C 2: 158,625,179 (GRCm39) probably null Het
Flacc1 G T 1: 58,697,531 (GRCm39) A403D probably damaging Het
Foxn3 T C 12: 99,354,952 (GRCm39) N71D probably benign Het
Gm7298 A G 6: 121,756,402 (GRCm39) R1016G possibly damaging Het
Grin2d T C 7: 45,507,878 (GRCm39) E396G possibly damaging Het
Htra2 C A 6: 83,030,027 (GRCm39) V311F probably damaging Het
Kif6 A T 17: 49,927,651 (GRCm39) T33S probably benign Het
Kmt2c T C 5: 25,514,634 (GRCm39) I3070V probably null Het
Krtap5-2 A T 7: 141,728,800 (GRCm39) C293* probably null Het
Lrp3 T A 7: 34,903,134 (GRCm39) D404V probably benign Het
LTO1 A G 7: 144,473,005 (GRCm39) D105G probably benign Het
Mc2r T G 18: 68,540,607 (GRCm39) I229L probably benign Het
Mtnr1b A G 9: 15,774,300 (GRCm39) M253T possibly damaging Het
Nfat5 A G 8: 108,094,909 (GRCm39) N531S probably benign Het
Niban3 G A 8: 72,051,733 (GRCm39) G23S probably benign Het
Npr2 T A 4: 43,643,622 (GRCm39) I550N probably damaging Het
Npy6r T C 18: 44,409,578 (GRCm39) I333T possibly damaging Het
Nup88 C T 11: 70,838,612 (GRCm39) R468Q probably benign Het
Nup98 G A 7: 101,825,522 (GRCm39) T422I probably damaging Het
Or10aa1 T A 1: 173,869,778 (GRCm39) H87Q possibly damaging Het
Otud4 A G 8: 80,372,970 (GRCm39) N96S probably damaging Het
Paqr6 T C 3: 88,273,265 (GRCm39) F86L probably damaging Het
Ppp4r3b A T 11: 29,138,035 (GRCm39) T90S probably benign Het
Ptbp2 A T 3: 119,534,091 (GRCm39) N23K probably damaging Het
Ralgapb G T 2: 158,304,029 (GRCm39) G596V probably damaging Het
Rdm1 G A 11: 101,521,068 (GRCm39) R94H probably benign Het
Rergl A T 6: 139,477,746 (GRCm39) F28I probably damaging Het
Rif1 G T 2: 51,997,681 (GRCm39) S1000I probably damaging Het
Rnf141 C T 7: 110,420,516 (GRCm39) A163T possibly damaging Het
Scaf4 G A 16: 90,057,136 (GRCm39) Q72* probably null Het
Sdk1 G T 5: 141,948,464 (GRCm39) S603I probably benign Het
Sdsl T C 5: 120,598,674 (GRCm39) I147M probably damaging Het
Serpina6 T C 12: 103,620,495 (GRCm39) N85D probably benign Het
Serpinf2 A G 11: 75,327,315 (GRCm39) I204T probably damaging Het
Simc1 C T 13: 54,672,413 (GRCm39) Q254* probably null Het
Slc30a3 G A 5: 31,246,083 (GRCm39) P216S possibly damaging Het
Smim14 T A 5: 65,610,639 (GRCm39) I53F probably benign Het
Sp3 T C 2: 72,801,285 (GRCm39) T243A probably benign Het
Srpk2 A G 5: 23,745,465 (GRCm39) F164L probably damaging Het
Stard9 T C 2: 120,543,910 (GRCm39) F4403L probably damaging Het
Tbc1d30 T C 10: 121,130,630 (GRCm39) T267A possibly damaging Het
Tgm7 T A 2: 120,926,878 (GRCm39) R424* probably null Het
Tmbim6 T C 15: 99,304,066 (GRCm39) L113P probably damaging Het
Tmcc1 G A 6: 116,020,722 (GRCm39) probably benign Het
Tomm7 A G 5: 24,049,028 (GRCm39) L15P probably damaging Het
Tpcn1 T C 5: 120,691,875 (GRCm39) Y263C probably damaging Het
Trim34b T C 7: 103,985,733 (GRCm39) F456S probably damaging Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Vmn2r108 A G 17: 20,691,260 (GRCm39) I421T probably benign Het
Wdr43 A G 17: 71,964,649 (GRCm39) E676G probably damaging Het
Zcchc14 G T 8: 122,331,598 (GRCm39) probably benign Het
Zfp64 C A 2: 168,754,186 (GRCm39) G25V probably damaging Het
Zswim8 C A 14: 20,763,079 (GRCm39) P326H 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
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
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'- TGGAAGCCAGGAGGAATTCC -3'
(R):5'- AGGCTTGTTAAGGTCAGCC -3'

Sequencing Primer
(F):5'- GAGGAATTCCCCAGCCTTC -3'
(R):5'- GGGGCCTCTCCTTTGTGC -3'
Posted On 2018-04-27