Incidental Mutation 'IGL02666:Iqgap2'
ID 302714
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iqgap2
Ensembl Gene ENSMUSG00000021676
Gene Name IQ motif containing GTPase activating protein 2
Synonyms 4933417J23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02666
Quality Score
Status
Chromosome 13
Chromosomal Location 95627177-95891922 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95628056 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1560 (N1560S)
Ref Sequence ENSEMBL: ENSMUSP00000067685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068603]
AlphaFold Q3UQ44
Predicted Effect probably damaging
Transcript: ENSMUST00000068603
AA Change: N1560S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: N1560S

DomainStartEndE-ValueType
CH 43 152 3.32e-16 SMART
coiled coil region 253 276 N/A INTRINSIC
low complexity region 469 480 N/A INTRINSIC
IQ 689 711 1.38e-4 SMART
IQ 719 741 7.36e0 SMART
IQ 749 771 2.43e1 SMART
coiled coil region 799 828 N/A INTRINSIC
RasGAP 905 1258 2.6e-120 SMART
Pfam:RasGAP_C 1367 1498 3.2e-40 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the IQGAP family. The protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display reduced survival with increased incidence of hepatocellular carcinomas, increased hepatocyte apoptosis, and hepatocyte mitochondrial abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230109A22Rik T C 15: 25,138,858 (GRCm38) noncoding transcript Het
Abca15 G A 7: 120,335,208 (GRCm38) V136M probably damaging Het
Abhd3 A G 18: 10,645,148 (GRCm38) I382T probably benign Het
Cux1 C A 5: 136,275,315 (GRCm38) E1336* probably null Het
Cyb5r3 T C 15: 83,160,353 (GRCm38) I155V probably damaging Het
Ddx24 T C 12: 103,424,055 (GRCm38) T226A possibly damaging Het
Diexf G A 1: 193,107,596 (GRCm38) Q752* probably null Het
Dld T C 12: 31,332,409 (GRCm38) N465S probably null Het
Dnmbp A G 19: 43,854,127 (GRCm38) probably benign Het
Dock9 T C 14: 121,580,699 (GRCm38) H1580R probably benign Het
Drd3 C A 16: 43,816,956 (GRCm38) probably benign Het
Gabrb2 G T 11: 42,529,495 (GRCm38) probably null Het
Gbp9 T C 5: 105,094,275 (GRCm38) probably null Het
Inhba A T 13: 16,027,079 (GRCm38) I409F possibly damaging Het
Itsn1 A G 16: 91,820,718 (GRCm38) probably benign Het
Kat6b T C 14: 21,628,870 (GRCm38) F434L probably damaging Het
Klra1 A G 6: 130,364,315 (GRCm38) C232R probably damaging Het
Krt18 T A 15: 102,029,867 (GRCm38) I175N probably damaging Het
Lck A G 4: 129,556,419 (GRCm38) V178A probably damaging Het
Mroh4 C A 15: 74,609,775 (GRCm38) G737V probably benign Het
Mug2 A C 6: 122,081,326 (GRCm38) L1282F probably damaging Het
Myo9a A G 9: 59,924,904 (GRCm38) N2572S probably benign Het
Nup88 G T 11: 70,943,869 (GRCm38) probably benign Het
Nxph3 G T 11: 95,511,008 (GRCm38) H193Q possibly damaging Het
Olfr1447 G T 19: 12,900,857 (GRCm38) H308N probably benign Het
Orm2 A G 4: 63,365,733 (GRCm38) T198A possibly damaging Het
Pom121 T C 5: 135,386,832 (GRCm38) I397V unknown Het
Prex1 C A 2: 166,572,989 (GRCm38) E1313D probably benign Het
Prkg2 T A 5: 98,997,519 (GRCm38) probably benign Het
Prl2a1 A T 13: 27,806,327 (GRCm38) K86N possibly damaging Het
Ptpro G A 6: 137,378,059 (GRCm38) S188N probably damaging Het
Ptprz1 A T 6: 23,001,210 (GRCm38) I1100F probably benign Het
Ryr1 C A 7: 29,019,763 (GRCm38) M4406I unknown Het
Sdf4 T A 4: 156,008,824 (GRCm38) Y204* probably null Het
Serinc1 A T 10: 57,523,993 (GRCm38) probably null Het
Slc39a5 C T 10: 128,398,455 (GRCm38) R193H probably damaging Het
Smad9 A G 3: 54,782,467 (GRCm38) K36R probably damaging Het
Spam1 T A 6: 24,796,124 (GRCm38) L25I possibly damaging Het
Stab2 A T 10: 86,850,902 (GRCm38) S809R possibly damaging Het
Szt2 G A 4: 118,374,055 (GRCm38) R35C probably damaging Het
Tcaf2 C A 6: 42,629,124 (GRCm38) probably benign Het
Tfap2d A C 1: 19,104,755 (GRCm38) D144A probably benign Het
Tmprss11d A T 5: 86,331,193 (GRCm38) V117D probably damaging Het
Tnxb A G 17: 34,684,939 (GRCm38) D1141G probably benign Het
Traf6 A T 2: 101,697,167 (GRCm38) T421S possibly damaging Het
Txndc16 G A 14: 45,211,150 (GRCm38) probably benign Het
Vmn1r73 C A 7: 11,756,938 (GRCm38) P228T probably damaging Het
Vmn2r4 A G 3: 64,389,012 (GRCm38) I784T probably benign Het
Zfp420 A G 7: 29,874,370 (GRCm38) D5G probably benign Het
Other mutations in Iqgap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00799:Iqgap2 APN 13 95,657,944 (GRCm38) splice site probably benign
IGL01968:Iqgap2 APN 13 95,635,582 (GRCm38) missense possibly damaging 0.80
IGL02049:Iqgap2 APN 13 95,675,405 (GRCm38) splice site probably benign
IGL02195:Iqgap2 APN 13 95,661,734 (GRCm38) splice site probably benign
IGL02387:Iqgap2 APN 13 95,689,701 (GRCm38) missense probably benign 0.00
IGL02634:Iqgap2 APN 13 95,628,114 (GRCm38) missense probably damaging 1.00
IGL02685:Iqgap2 APN 13 95,671,404 (GRCm38) missense probably damaging 1.00
IGL02927:Iqgap2 APN 13 95,724,676 (GRCm38) missense possibly damaging 0.62
IGL02943:Iqgap2 APN 13 95,661,735 (GRCm38) splice site probably benign
IGL03167:Iqgap2 APN 13 95,684,898 (GRCm38) missense probably benign 0.34
IGL03169:Iqgap2 APN 13 95,731,277 (GRCm38) splice site probably null
IGL03293:Iqgap2 APN 13 95,731,434 (GRCm38) missense probably damaging 1.00
G1Funyon:Iqgap2 UTSW 13 95,682,151 (GRCm38) critical splice donor site probably null
R0257:Iqgap2 UTSW 13 95,724,544 (GRCm38) critical splice donor site probably null
R0335:Iqgap2 UTSW 13 95,635,633 (GRCm38) missense probably damaging 0.99
R0360:Iqgap2 UTSW 13 95,731,275 (GRCm38) splice site probably benign
R0364:Iqgap2 UTSW 13 95,731,275 (GRCm38) splice site probably benign
R0419:Iqgap2 UTSW 13 95,689,699 (GRCm38) critical splice donor site probably null
R1229:Iqgap2 UTSW 13 95,632,165 (GRCm38) missense probably benign 0.32
R1290:Iqgap2 UTSW 13 95,668,513 (GRCm38) missense probably damaging 1.00
R1397:Iqgap2 UTSW 13 95,632,165 (GRCm38) missense probably benign 0.32
R1498:Iqgap2 UTSW 13 95,646,805 (GRCm38) missense probably benign
R1513:Iqgap2 UTSW 13 95,630,010 (GRCm38) missense probably damaging 1.00
R1630:Iqgap2 UTSW 13 95,689,785 (GRCm38) missense probably benign
R2088:Iqgap2 UTSW 13 95,891,663 (GRCm38) critical splice donor site probably null
R2928:Iqgap2 UTSW 13 95,682,236 (GRCm38) missense probably benign
R3026:Iqgap2 UTSW 13 95,673,056 (GRCm38) critical splice acceptor site probably null
R3720:Iqgap2 UTSW 13 95,668,528 (GRCm38) splice site probably null
R3846:Iqgap2 UTSW 13 95,673,678 (GRCm38) splice site probably benign
R4056:Iqgap2 UTSW 13 95,750,033 (GRCm38) missense probably damaging 1.00
R4077:Iqgap2 UTSW 13 95,657,867 (GRCm38) missense probably damaging 1.00
R4353:Iqgap2 UTSW 13 95,671,396 (GRCm38) missense probably damaging 1.00
R4517:Iqgap2 UTSW 13 95,664,061 (GRCm38) critical splice donor site probably null
R4628:Iqgap2 UTSW 13 95,763,329 (GRCm38) missense probably benign 0.17
R4686:Iqgap2 UTSW 13 95,721,609 (GRCm38) missense probably damaging 0.98
R4724:Iqgap2 UTSW 13 95,635,497 (GRCm38) missense possibly damaging 0.73
R4826:Iqgap2 UTSW 13 95,763,275 (GRCm38) missense probably damaging 1.00
R4847:Iqgap2 UTSW 13 95,673,743 (GRCm38) missense probably benign 0.19
R4967:Iqgap2 UTSW 13 95,630,006 (GRCm38) missense probably benign 0.00
R4973:Iqgap2 UTSW 13 95,657,797 (GRCm38) splice site probably null
R5010:Iqgap2 UTSW 13 95,673,743 (GRCm38) missense probably benign 0.19
R5086:Iqgap2 UTSW 13 95,635,580 (GRCm38) missense probably benign 0.01
R5496:Iqgap2 UTSW 13 95,630,053 (GRCm38) missense probably damaging 1.00
R5512:Iqgap2 UTSW 13 95,675,376 (GRCm38) nonsense probably null
R5629:Iqgap2 UTSW 13 95,632,174 (GRCm38) missense probably damaging 1.00
R5824:Iqgap2 UTSW 13 95,675,372 (GRCm38) missense probably damaging 0.99
R5830:Iqgap2 UTSW 13 95,675,372 (GRCm38) missense probably damaging 0.99
R5831:Iqgap2 UTSW 13 95,675,372 (GRCm38) missense probably damaging 0.99
R5832:Iqgap2 UTSW 13 95,675,372 (GRCm38) missense probably damaging 0.99
R5833:Iqgap2 UTSW 13 95,675,372 (GRCm38) missense probably damaging 0.99
R5834:Iqgap2 UTSW 13 95,675,372 (GRCm38) missense probably damaging 0.99
R5852:Iqgap2 UTSW 13 95,675,372 (GRCm38) missense probably damaging 0.99
R5888:Iqgap2 UTSW 13 95,635,610 (GRCm38) missense possibly damaging 0.89
R5889:Iqgap2 UTSW 13 95,632,042 (GRCm38) missense probably benign 0.00
R6093:Iqgap2 UTSW 13 95,628,963 (GRCm38) missense probably damaging 0.99
R6141:Iqgap2 UTSW 13 95,721,686 (GRCm38) splice site probably null
R6404:Iqgap2 UTSW 13 95,729,477 (GRCm38) missense probably benign 0.28
R6434:Iqgap2 UTSW 13 95,682,933 (GRCm38) missense possibly damaging 0.85
R6648:Iqgap2 UTSW 13 95,682,211 (GRCm38) missense probably benign 0.27
R6658:Iqgap2 UTSW 13 95,660,332 (GRCm38) missense probably damaging 1.00
R6903:Iqgap2 UTSW 13 95,661,057 (GRCm38) missense probably damaging 1.00
R7223:Iqgap2 UTSW 13 95,628,972 (GRCm38) missense probably damaging 1.00
R7327:Iqgap2 UTSW 13 95,635,655 (GRCm38) missense probably benign 0.00
R7371:Iqgap2 UTSW 13 95,700,338 (GRCm38) splice site probably null
R7378:Iqgap2 UTSW 13 95,732,890 (GRCm38) critical splice donor site probably null
R7441:Iqgap2 UTSW 13 95,628,076 (GRCm38) missense probably benign 0.23
R7575:Iqgap2 UTSW 13 95,661,623 (GRCm38) missense probably damaging 0.99
R7671:Iqgap2 UTSW 13 95,628,119 (GRCm38) missense probably damaging 0.98
R7713:Iqgap2 UTSW 13 95,731,444 (GRCm38) missense probably benign 0.01
R7806:Iqgap2 UTSW 13 95,682,257 (GRCm38) missense probably benign 0.00
R7893:Iqgap2 UTSW 13 95,689,709 (GRCm38) missense probably damaging 0.96
R8052:Iqgap2 UTSW 13 95,657,879 (GRCm38) missense probably damaging 0.96
R8121:Iqgap2 UTSW 13 95,724,568 (GRCm38) missense probably benign 0.00
R8261:Iqgap2 UTSW 13 95,635,570 (GRCm38) missense probably damaging 1.00
R8301:Iqgap2 UTSW 13 95,682,151 (GRCm38) critical splice donor site probably null
R8369:Iqgap2 UTSW 13 95,661,603 (GRCm38) missense probably damaging 1.00
R8485:Iqgap2 UTSW 13 95,660,151 (GRCm38) missense probably damaging 0.99
R8709:Iqgap2 UTSW 13 95,660,205 (GRCm38) missense probably damaging 0.99
R8710:Iqgap2 UTSW 13 95,660,248 (GRCm38) missense probably benign 0.24
R8737:Iqgap2 UTSW 13 95,665,750 (GRCm38) missense probably damaging 1.00
R8845:Iqgap2 UTSW 13 95,657,884 (GRCm38) missense possibly damaging 0.60
R8902:Iqgap2 UTSW 13 95,682,203 (GRCm38) missense probably benign 0.16
R8957:Iqgap2 UTSW 13 95,635,646 (GRCm38) missense probably damaging 1.00
R9153:Iqgap2 UTSW 13 95,708,039 (GRCm38) missense probably benign
R9259:Iqgap2 UTSW 13 95,630,053 (GRCm38) missense probably damaging 1.00
R9290:Iqgap2 UTSW 13 95,750,015 (GRCm38) missense probably damaging 1.00
R9414:Iqgap2 UTSW 13 95,646,841 (GRCm38) missense
R9432:Iqgap2 UTSW 13 95,637,753 (GRCm38) missense probably benign
R9747:Iqgap2 UTSW 13 95,684,997 (GRCm38) missense probably damaging 1.00
X0066:Iqgap2 UTSW 13 95,671,383 (GRCm38) missense probably damaging 0.98
Z1176:Iqgap2 UTSW 13 95,731,443 (GRCm38) missense possibly damaging 0.92
Posted On 2015-04-16