Incidental Mutation 'IGL02685:Iqgap2'
ID303518
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iqgap2
Ensembl Gene ENSMUSG00000021676
Gene NameIQ motif containing GTPase activating protein 2
Synonyms4933417J23Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02685
Quality Score
Status
Chromosome13
Chromosomal Location95627177-95891922 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 95671404 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 785 (R785L)
Ref Sequence ENSEMBL: ENSMUSP00000067685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068603]
Predicted Effect probably damaging
Transcript: ENSMUST00000068603
AA Change: R785L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: R785L

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,905,947 Y779C probably damaging Het
Acad10 A G 5: 121,632,609 F532L probably benign Het
Adgrb3 A T 1: 25,084,242 probably null Het
Akr1d1 T C 6: 37,530,343 probably benign Het
Aqp11 A G 7: 97,737,552 Y146H probably damaging Het
Cdh2 A T 18: 16,646,500 L168Q probably damaging Het
Ces2f C T 8: 104,953,098 Q277* probably null Het
Cmya5 G A 13: 93,090,997 Q2528* probably null Het
Col22a1 A G 15: 71,801,915 V984A unknown Het
Col5a3 T C 9: 20,772,205 D1557G unknown Het
Cpb1 A T 3: 20,265,356 V188E probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Ephb1 G T 9: 102,041,103 Y402* probably null Het
Foxm1 T C 6: 128,373,107 L319S possibly damaging Het
Gmppb T C 9: 108,049,919 probably benign Het
Grid2 T G 6: 64,345,816 M600R possibly damaging Het
Gstm6 T C 3: 107,941,191 K57E probably benign Het
Hars2 T G 18: 36,791,118 S422A probably benign Het
Igdcc4 T C 9: 65,133,825 M1092T possibly damaging Het
Ighv13-1 C A 12: 114,267,783 probably benign Het
Kalrn G A 16: 34,513,959 Q8* probably null Het
Mms22l A G 4: 24,591,133 T1035A probably benign Het
Myo1b A G 1: 51,778,499 Y535H probably damaging Het
Neb T A 2: 52,175,301 K6234N possibly damaging Het
Nlrp9c A G 7: 26,385,557 I199T probably damaging Het
Olfr1213 T A 2: 88,973,021 N290I possibly damaging Het
Olfr1328 A T 4: 118,933,937 F304I possibly damaging Het
Olfr651 C A 7: 104,553,150 T77K probably benign Het
Olfr851 T C 9: 19,496,802 I18T probably benign Het
Osmr T C 15: 6,815,573 E904G probably benign Het
Pde8b T C 13: 95,026,120 *831W probably null Het
Prkdc T C 16: 15,836,043 V3888A possibly damaging Het
Scn9a C A 2: 66,537,293 S693I probably damaging Het
Sepsecs T C 5: 52,647,192 T379A probably benign Het
Ska1 T A 18: 74,197,048 H207L probably benign Het
Slc17a9 C A 2: 180,733,809 Q175K probably damaging Het
Slc38a2 G A 15: 96,691,425 T396I probably benign Het
Slc9a4 A C 1: 40,629,582 H795P probably benign Het
Sorbs2 C T 8: 45,803,840 T955I probably benign Het
Spata4 A T 8: 54,600,928 H43L probably benign Het
Ss18l2 G A 9: 121,710,418 A6T possibly damaging Het
Sult1e1 C T 5: 87,579,906 W172* probably null Het
Tlcd1 T C 11: 78,179,537 probably benign Het
Tmc8 T C 11: 117,792,574 S652P probably damaging Het
Vps37b T C 5: 124,010,811 S54G probably damaging Het
Wdr26 A T 1: 181,183,780 S511T possibly damaging Het
Zfhx4 A G 3: 5,412,153 Y3251C probably damaging Het
Other mutations in Iqgap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00799:Iqgap2 APN 13 95657944 splice site probably benign
IGL01968:Iqgap2 APN 13 95635582 missense possibly damaging 0.80
IGL02049:Iqgap2 APN 13 95675405 splice site probably benign
IGL02195:Iqgap2 APN 13 95661734 splice site probably benign
IGL02387:Iqgap2 APN 13 95689701 missense probably benign 0.00
IGL02634:Iqgap2 APN 13 95628114 missense probably damaging 1.00
IGL02666:Iqgap2 APN 13 95628056 missense probably damaging 1.00
IGL02927:Iqgap2 APN 13 95724676 missense possibly damaging 0.62
IGL02943:Iqgap2 APN 13 95661735 splice site probably benign
IGL03167:Iqgap2 APN 13 95684898 missense probably benign 0.34
IGL03169:Iqgap2 APN 13 95731277 splice site probably null
IGL03293:Iqgap2 APN 13 95731434 missense probably damaging 1.00
R0257:Iqgap2 UTSW 13 95724544 critical splice donor site probably null
R0335:Iqgap2 UTSW 13 95635633 missense probably damaging 0.99
R0360:Iqgap2 UTSW 13 95731275 splice site probably benign
R0364:Iqgap2 UTSW 13 95731275 splice site probably benign
R0419:Iqgap2 UTSW 13 95689699 critical splice donor site probably null
R1229:Iqgap2 UTSW 13 95632165 missense probably benign 0.32
R1290:Iqgap2 UTSW 13 95668513 missense probably damaging 1.00
R1397:Iqgap2 UTSW 13 95632165 missense probably benign 0.32
R1498:Iqgap2 UTSW 13 95646805 missense probably benign
R1513:Iqgap2 UTSW 13 95630010 missense probably damaging 1.00
R1630:Iqgap2 UTSW 13 95689785 missense probably benign
R2088:Iqgap2 UTSW 13 95891663 critical splice donor site probably null
R2928:Iqgap2 UTSW 13 95682236 missense probably benign
R3026:Iqgap2 UTSW 13 95673056 critical splice acceptor site probably null
R3720:Iqgap2 UTSW 13 95668528 splice site probably null
R3846:Iqgap2 UTSW 13 95673678 splice site probably benign
R4056:Iqgap2 UTSW 13 95750033 missense probably damaging 1.00
R4077:Iqgap2 UTSW 13 95657867 missense probably damaging 1.00
R4353:Iqgap2 UTSW 13 95671396 missense probably damaging 1.00
R4517:Iqgap2 UTSW 13 95664061 critical splice donor site probably null
R4628:Iqgap2 UTSW 13 95763329 missense probably benign 0.17
R4686:Iqgap2 UTSW 13 95721609 missense probably damaging 0.98
R4724:Iqgap2 UTSW 13 95635497 missense possibly damaging 0.73
R4826:Iqgap2 UTSW 13 95763275 missense probably damaging 1.00
R4847:Iqgap2 UTSW 13 95673743 missense probably benign 0.19
R4967:Iqgap2 UTSW 13 95630006 missense probably benign 0.00
R4973:Iqgap2 UTSW 13 95657797 splice site probably null
R5010:Iqgap2 UTSW 13 95673743 missense probably benign 0.19
R5086:Iqgap2 UTSW 13 95635580 missense probably benign 0.01
R5496:Iqgap2 UTSW 13 95630053 missense probably damaging 1.00
R5512:Iqgap2 UTSW 13 95675376 nonsense probably null
R5629:Iqgap2 UTSW 13 95632174 missense probably damaging 1.00
R5824:Iqgap2 UTSW 13 95675372 missense probably damaging 0.99
R5830:Iqgap2 UTSW 13 95675372 missense probably damaging 0.99
R5831:Iqgap2 UTSW 13 95675372 missense probably damaging 0.99
R5832:Iqgap2 UTSW 13 95675372 missense probably damaging 0.99
R5833:Iqgap2 UTSW 13 95675372 missense probably damaging 0.99
R5834:Iqgap2 UTSW 13 95675372 missense probably damaging 0.99
R5852:Iqgap2 UTSW 13 95675372 missense probably damaging 0.99
R5888:Iqgap2 UTSW 13 95635610 missense possibly damaging 0.89
R5889:Iqgap2 UTSW 13 95632042 missense probably benign 0.00
R6093:Iqgap2 UTSW 13 95628963 missense probably damaging 0.99
R6141:Iqgap2 UTSW 13 95721686 splice site probably null
R6404:Iqgap2 UTSW 13 95729477 missense probably benign 0.28
R6434:Iqgap2 UTSW 13 95682933 missense possibly damaging 0.85
R6648:Iqgap2 UTSW 13 95682211 missense probably benign 0.27
R6658:Iqgap2 UTSW 13 95660332 missense probably damaging 1.00
R6903:Iqgap2 UTSW 13 95661057 missense probably damaging 1.00
X0066:Iqgap2 UTSW 13 95671383 missense probably damaging 0.98
Posted On2015-04-16