Incidental Mutation 'R2135:Shank2'
ID 235720
Institutional Source Beutler Lab
Gene Symbol Shank2
Ensembl Gene ENSMUSG00000037541
Gene Name SH3 and multiple ankyrin repeat domains 2
Synonyms ProSAP1
MMRRC Submission 040138-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2135 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 143555665-143978231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 143964971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1070 (P1070S)
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 possibly damaging
Transcript: ENSMUST00000097929
AA Change: P853S

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095542
Gene: ENSMUSG00000037541
AA Change: P853S

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 damaging
Transcript: ENSMUST00000105900
AA Change: P1070S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101520
Gene: ENSMUSG00000037541
AA Change: P1070S

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: P1439S

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101522
Gene: ENSMUSG00000037541
AA Change: P1439S

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 possibly damaging
Transcript: ENSMUST00000146006
AA Change: P860S

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
Meta Mutation Damage Score 0.0909 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (70/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,885,509 (GRCm39) H116Q probably benign Het
Adamts16 C A 13: 70,949,126 (GRCm39) L178F probably damaging Het
Adgrv1 A G 13: 81,672,676 (GRCm39) probably null Het
Akap9 A G 5: 4,114,509 (GRCm39) T46A probably damaging Het
Ankrd2 T C 19: 42,032,498 (GRCm39) L253P probably damaging Het
Arap3 T C 18: 38,107,509 (GRCm39) D1336G probably damaging Het
Cacna2d2 C A 9: 107,403,712 (GRCm39) L992I possibly damaging Het
Cdhr2 T A 13: 54,868,760 (GRCm39) I574N probably damaging Het
Cecr2 C T 6: 120,697,923 (GRCm39) T74M probably damaging Het
Ces5a C A 8: 94,226,369 (GRCm39) E481D probably benign Het
Cfap74 C G 4: 155,514,397 (GRCm39) N544K probably damaging Het
Cfap74 T A 4: 155,514,408 (GRCm39) L548Q probably damaging Het
Cfb C T 17: 35,076,254 (GRCm39) V1145I possibly damaging Het
CK137956 A G 4: 127,845,433 (GRCm39) probably benign Het
Commd10 T A 18: 47,123,604 (GRCm39) L153Q possibly damaging Het
Cox6c T C 15: 35,937,429 (GRCm39) probably benign Het
Dock4 A G 12: 40,795,667 (GRCm39) Y828C probably benign Het
Ermp1 T C 19: 29,623,465 (GRCm39) D119G possibly damaging Het
Ext1 G T 15: 52,965,140 (GRCm39) Q409K possibly damaging Het
Fat4 A T 3: 39,034,882 (GRCm39) I2845F probably damaging Het
Frmd6 A G 12: 70,941,771 (GRCm39) N494S probably benign Het
Fscn3 A G 6: 28,431,583 (GRCm39) T305A probably benign Het
Gbx1 G T 5: 24,731,220 (GRCm39) R199S possibly damaging Het
Gm11437 T C 11: 84,044,638 (GRCm39) R192G probably damaging Het
Gucy2c T A 6: 136,700,726 (GRCm39) D572V probably damaging Het
Idh1 A C 1: 65,201,078 (GRCm39) M291R probably damaging Het
Kcnt2 A G 1: 140,356,551 (GRCm39) Y330C probably damaging Het
Kdm4a A G 4: 117,999,656 (GRCm39) L922P probably damaging Het
L3mbtl2 A G 15: 81,566,215 (GRCm39) D346G possibly damaging Het
Lsm14a A G 7: 34,070,609 (GRCm39) S96P probably damaging Het
Ltn1 A G 16: 87,179,601 (GRCm39) L1520P probably damaging Het
Marchf6 A T 15: 31,509,910 (GRCm39) C26* probably null Het
Msra G A 14: 64,360,657 (GRCm39) P228L probably damaging Het
Mycbp2 T C 14: 103,446,329 (GRCm39) Y1800C probably damaging Het
Mycbp2 A T 14: 103,383,378 (GRCm39) D395E probably benign Het
Ncr1 C A 7: 4,343,756 (GRCm39) probably benign Het
Nkd1 T C 8: 89,318,278 (GRCm39) I201T probably benign Het
Nsrp1 A T 11: 76,945,834 (GRCm39) probably benign Het
Or2t48 A C 11: 58,420,611 (GRCm39) I67S probably damaging Het
Or7e177 T A 9: 20,211,593 (GRCm39) D32E probably benign Het
Pate5 A C 9: 35,750,479 (GRCm39) probably null Het
Pkdrej T C 15: 85,700,707 (GRCm39) Y1743C probably damaging Het
Plekha5 T A 6: 140,526,225 (GRCm39) H281Q possibly damaging Het
Ppp2r3d A C 9: 101,088,757 (GRCm39) M522R probably damaging Het
Prdm12 T C 2: 31,530,325 (GRCm39) F72S possibly damaging Het
Prima1 A T 12: 103,168,949 (GRCm39) F106L probably damaging Het
Ptchd4 A G 17: 42,627,965 (GRCm39) H142R probably benign Het
Rasgrf2 G A 13: 92,120,374 (GRCm39) A793V probably benign Het
Rbsn T A 6: 92,166,854 (GRCm39) M597L probably benign Het
Ripk4 A T 16: 97,544,933 (GRCm39) D571E probably damaging Het
Rp9 T C 9: 22,379,425 (GRCm39) K25E possibly damaging Het
Sec31b T C 19: 44,523,135 (GRCm39) S211G probably damaging Het
Sla A G 15: 66,654,563 (GRCm39) V241A probably benign Het
Slc25a40 A G 5: 8,477,489 (GRCm39) T25A possibly damaging Het
Slc3a2 A G 19: 8,685,608 (GRCm39) S164P probably benign Het
Slc7a5 A T 8: 122,610,444 (GRCm39) W457R probably null Het
Slco6c1 A G 1: 97,032,542 (GRCm39) M303T probably benign Het
Smim10l1 T C 6: 133,082,489 (GRCm39) F12S probably damaging Het
Syne2 A G 12: 75,999,560 (GRCm39) I2318V probably damaging Het
Tecta A C 9: 42,251,581 (GRCm39) C1781G probably damaging Het
Timmdc1 A T 16: 38,319,313 (GRCm39) H280Q probably benign Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tmem30b A G 12: 73,592,107 (GRCm39) L336P probably damaging Het
Tmem94 A G 11: 115,685,575 (GRCm39) I943V probably benign Het
Tshb A G 3: 102,685,464 (GRCm39) probably null Het
Vcpip1 A G 1: 9,818,035 (GRCm39) V116A probably benign Het
Vmn2r76 A G 7: 85,880,219 (GRCm39) Y156H probably benign Het
Zcrb1 T C 15: 93,295,067 (GRCm39) N23S probably damaging Het
Zfyve26 T C 12: 79,292,826 (GRCm39) R2108G possibly 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
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
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'- GAAGGTGCTTTACAGATCTCCGC -3'
(R):5'- AGATGGTGCTGGTAGTCTCC -3'

Sequencing Primer
(F):5'- GCGGTGATTCTGCCATTCCG -3'
(R):5'- CCAGGTGGTGGTCGCTG -3'
Posted On 2014-10-01