Incidental Mutation 'R7225:Shank2'
ID 562099
Institutional Source Beutler Lab
Gene Symbol Shank2
Ensembl Gene ENSMUSG00000037541
Gene Name SH3 and multiple ankyrin repeat domains 2
Synonyms ProSAP1
MMRRC Submission 045297-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7225 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 143555665-143978231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 143838762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 19 (N19K)
Ref Sequence ENSEMBL: ENSMUSP00000146440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097929] [ENSMUST00000105900] [ENSMUST00000105902] [ENSMUST00000146006] [ENSMUST00000213146]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000097929
AA Change: N19K

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000095542
Gene: ENSMUSG00000037541
AA Change: N19K

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
SMART Domains Protein: ENSMUSP00000101520
Gene: ENSMUSG00000037541

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
SMART Domains Protein: ENSMUSP00000101522
Gene: ENSMUSG00000037541

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: ENSMUST00000146006
AA Change: N19K

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000213146
Meta Mutation Damage Score 0.0871 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (62/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik T C 12: 110,637,299 (GRCm39) probably benign Het
5730480H06Rik T A 5: 48,537,575 (GRCm39) probably null Het
Actn4 A T 7: 28,598,124 (GRCm39) V492D probably damaging Het
Alpk2 T C 18: 65,438,270 (GRCm39) E1041G probably benign Het
Asap1 G A 15: 64,002,099 (GRCm39) T404M probably damaging Het
Cd22 C T 7: 30,577,059 (GRCm39) A83T not run Het
Cdan1 T C 2: 120,555,393 (GRCm39) T783A probably benign Het
Cdh9 C T 15: 16,856,159 (GRCm39) S733F probably damaging Het
Cfap54 A G 10: 92,740,236 (GRCm39) F2282S unknown Het
Chst9 T C 18: 15,585,718 (GRCm39) K282E probably damaging Het
Clcn1 G A 6: 42,270,396 (GRCm39) D232N probably damaging Het
Clpb T A 7: 101,360,672 (GRCm39) L234Q probably damaging Het
Cluh T G 11: 74,557,232 (GRCm39) probably null Het
Cnp C T 11: 100,471,413 (GRCm39) Q352* probably null Het
Cyfip1 AGTGT AGT 7: 55,577,937 (GRCm39) probably null Het
Dtx3 C T 10: 127,027,358 (GRCm39) C272Y probably damaging Het
Dync2h1 A G 9: 7,142,756 (GRCm39) I1156T probably benign Het
Epg5 T A 18: 78,055,917 (GRCm39) V1697E probably benign Het
Exoc3l4 A G 12: 111,390,058 (GRCm39) D211G probably benign Het
Fank1 A G 7: 133,454,988 (GRCm39) K36R probably benign Het
Fat4 T C 3: 39,034,325 (GRCm39) I2659T possibly damaging Het
Fer1l5 T C 1: 36,460,033 (GRCm39) W1893R possibly damaging Het
Gorasp2 T A 2: 70,514,391 (GRCm39) L256Q probably damaging Het
Gpc5 T G 14: 115,789,710 (GRCm39) V528G probably damaging Het
Gria2 T A 3: 80,709,938 (GRCm39) probably benign Het
Htatip2 A G 7: 49,420,604 (GRCm39) E150G possibly damaging Het
Jak3 C A 8: 72,138,155 (GRCm39) Q869K probably benign Het
Jmjd1c T C 10: 67,061,844 (GRCm39) V1218A probably benign Het
Kcnf1 A G 12: 17,225,694 (GRCm39) C176R possibly damaging Het
Kcnq4 A G 4: 120,604,111 (GRCm39) V88A probably benign Het
Lmod3 T A 6: 97,224,345 (GRCm39) D492V probably benign Het
Lurap1l A C 4: 80,829,718 (GRCm39) S43R probably benign Het
Mamdc4 T C 2: 25,455,558 (GRCm39) H890R possibly damaging Het
Mertk T G 2: 128,643,482 (GRCm39) N960K possibly damaging Het
Nudt9 C A 5: 104,212,966 (GRCm39) D346E probably benign Het
Obi1 T C 14: 104,717,294 (GRCm39) T360A probably benign Het
Opa1 A G 16: 29,432,857 (GRCm39) probably null Het
Or5an1 A T 19: 12,260,831 (GRCm39) T140S probably benign Het
Oxr1 C T 15: 41,677,004 (GRCm39) P187L not run Het
Paxbp1 T C 16: 90,823,956 (GRCm39) E564G probably damaging Het
Pcdhb13 C T 18: 37,577,490 (GRCm39) R623C possibly damaging Het
Pkhd1l1 G T 15: 44,410,337 (GRCm39) V2615F probably damaging Het
Plin3 T C 17: 56,593,541 (GRCm39) T58A possibly damaging Het
Por A G 5: 135,761,441 (GRCm39) D309G probably benign Het
Ppp2r5e T C 12: 75,515,353 (GRCm39) K261R probably damaging Het
Ptpn18 C T 1: 34,511,927 (GRCm39) T366I possibly damaging Het
Ptprz1 G A 6: 23,000,928 (GRCm39) G1006E possibly damaging Het
Rpl12 C T 2: 32,851,909 (GRCm39) probably benign Het
Rpsa T G 9: 119,960,222 (GRCm39) F262V probably benign Het
Sh3pxd2a G T 19: 47,255,828 (GRCm39) N991K probably damaging Het
Sik1 T C 17: 32,073,274 (GRCm39) T61A probably benign Het
Sipa1l3 A C 7: 29,098,853 (GRCm39) V472G probably damaging Het
Sirt6 A G 10: 81,458,315 (GRCm39) S313P probably benign Het
Slc12a7 A G 13: 73,912,081 (GRCm39) probably benign Het
Sox13 A T 1: 133,314,862 (GRCm39) V266E probably benign Het
Spag9 T C 11: 93,988,184 (GRCm39) C833R probably damaging Het
Tcof1 T C 18: 60,961,520 (GRCm39) T812A unknown Het
Tnfsf4 A G 1: 161,244,821 (GRCm39) D170G possibly damaging Het
Tshz3 A G 7: 36,469,082 (GRCm39) N357S probably damaging Het
Txk C T 5: 72,858,057 (GRCm39) D418N probably damaging Het
Ube2j2 A G 4: 156,033,773 (GRCm39) probably null Het
Vmn2r84 G A 10: 130,222,552 (GRCm39) P556L probably damaging Het
Zfp1007 T C 5: 109,825,015 (GRCm39) H145R possibly damaging Het
Zfp442 T C 2: 150,250,925 (GRCm39) N326D 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
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'- TTCCCTGGAAGATGCGTCTG -3'
(R):5'- CAAGCTGGGGAAGGTTCTTC -3'

Sequencing Primer
(F):5'- AAGATGCGTCTGGCCGAGAC -3'
(R):5'- GGAAGGTTCTTCATACAAGCCTG -3'
Posted On 2019-06-26