Incidental Mutation 'IGL02927:Iqgap2'
ID 363942
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 # IGL02927
Quality Score
Status
Chromosome 13
Chromosomal Location 95763685-96028788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 95861184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 314 (L314R)
Ref Sequence ENSEMBL: ENSMUSP00000067685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068603]
AlphaFold Q3UQ44
Predicted Effect possibly damaging
Transcript: ENSMUST00000068603
AA Change: L314R

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: L314R

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
1700122O11Rik G A 17: 48,347,729 (GRCm39) Q192* probably null Het
Actl7b C A 4: 56,740,609 (GRCm39) D250Y probably damaging Het
Akr1a1 T A 4: 116,495,180 (GRCm39) N273I probably damaging Het
Arhgap32 T A 9: 32,172,431 (GRCm39) I1737N possibly damaging Het
Cant1 T C 11: 118,301,888 (GRCm39) D143G probably benign Het
Cast T A 13: 74,885,113 (GRCm39) D295V probably damaging Het
Cdh1 A G 8: 107,395,143 (GRCm39) N851D probably damaging Het
Cntn1 G A 15: 92,189,561 (GRCm39) R628H probably benign Het
Cul4a A G 8: 13,174,861 (GRCm39) D279G possibly damaging Het
Cyp2s1 T C 7: 25,507,577 (GRCm39) K291E probably benign Het
Dhx35 A T 2: 158,662,336 (GRCm39) I205F probably damaging Het
Dpp8 G T 9: 64,967,551 (GRCm39) R518L probably benign Het
Gm9 A G X: 36,474,207 (GRCm39) I34T possibly damaging Het
Hmcn1 A T 1: 150,453,029 (GRCm39) C5429S probably damaging Het
Itgav A C 2: 83,625,884 (GRCm39) Y810S probably damaging Het
Kcng4 G T 8: 120,353,061 (GRCm39) P283Q probably benign Het
Lrrn3 T A 12: 41,503,343 (GRCm39) I325F probably damaging Het
Lzts3 A G 2: 130,479,877 (GRCm39) probably benign Het
Marchf7 T C 2: 60,067,262 (GRCm39) I594T probably damaging Het
Matn2 A T 15: 34,355,801 (GRCm39) I269F probably damaging Het
Matn4 A G 2: 164,231,757 (GRCm39) F591S probably damaging Het
Mknk1 C T 4: 115,714,288 (GRCm39) R20C probably damaging Het
Mrgbp T C 2: 180,226,272 (GRCm39) V115A probably damaging Het
Mrgprb8 C T 7: 48,038,373 (GRCm39) Q15* probably null Het
Naa38 T C 11: 69,286,743 (GRCm39) L9P probably damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or13a19 T A 7: 139,902,654 (GRCm39) L14Q probably damaging Het
Or2y3 T A 17: 38,393,114 (GRCm39) M252L probably benign Het
Or9i2 G A 19: 13,816,288 (GRCm39) T83I probably benign Het
Pkd1 A G 17: 24,794,163 (GRCm39) N1950S probably damaging Het
Plagl2 A G 2: 153,074,199 (GRCm39) L234P probably damaging Het
Psmb11 C T 14: 54,863,108 (GRCm39) R109W probably damaging Het
Rcc1 C T 4: 132,065,067 (GRCm39) R139H probably benign Het
Rsbn1 A G 3: 103,869,668 (GRCm39) T710A probably benign Het
Shld2 T C 14: 33,989,658 (GRCm39) Y416C probably damaging Het
Slitrk4 A G X: 63,314,933 (GRCm39) I578T possibly damaging Het
Srgap1 T C 10: 121,691,367 (GRCm39) Y289C probably damaging Het
Stxbp2 A G 8: 3,692,685 (GRCm39) D579G possibly damaging Het
Tg T C 15: 66,549,942 (GRCm39) Y235H probably damaging Het
Thbs3 A G 3: 89,127,514 (GRCm39) N385S probably damaging Het
Trmo A G 4: 46,387,602 (GRCm39) S80P probably damaging Het
Ubc T C 5: 125,463,201 (GRCm39) K709E probably benign Het
Vstm4 C T 14: 32,659,745 (GRCm39) P296S probably damaging Het
Wdr11 G A 7: 129,208,822 (GRCm39) probably null Het
Wdr19 T C 5: 65,409,721 (GRCm39) I1153T possibly damaging Het
Xpo6 T C 7: 125,755,901 (GRCm39) E213G possibly damaging Het
Zxdc A C 6: 90,349,544 (GRCm39) T311P probably damaging Het
Other mutations in Iqgap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00799:Iqgap2 APN 13 95,794,452 (GRCm39) splice site probably benign
IGL01968:Iqgap2 APN 13 95,772,090 (GRCm39) missense possibly damaging 0.80
IGL02049:Iqgap2 APN 13 95,811,913 (GRCm39) splice site probably benign
IGL02195:Iqgap2 APN 13 95,798,242 (GRCm39) splice site probably benign
IGL02387:Iqgap2 APN 13 95,826,209 (GRCm39) missense probably benign 0.00
IGL02634:Iqgap2 APN 13 95,764,622 (GRCm39) missense probably damaging 1.00
IGL02666:Iqgap2 APN 13 95,764,564 (GRCm39) missense probably damaging 1.00
IGL02685:Iqgap2 APN 13 95,807,912 (GRCm39) missense probably damaging 1.00
IGL02943:Iqgap2 APN 13 95,798,243 (GRCm39) splice site probably benign
IGL03167:Iqgap2 APN 13 95,821,406 (GRCm39) missense probably benign 0.34
IGL03169:Iqgap2 APN 13 95,867,785 (GRCm39) splice site probably null
IGL03293:Iqgap2 APN 13 95,867,942 (GRCm39) missense probably damaging 1.00
G1Funyon:Iqgap2 UTSW 13 95,818,659 (GRCm39) critical splice donor site probably null
R0257:Iqgap2 UTSW 13 95,861,052 (GRCm39) critical splice donor site probably null
R0335:Iqgap2 UTSW 13 95,772,141 (GRCm39) missense probably damaging 0.99
R0360:Iqgap2 UTSW 13 95,867,783 (GRCm39) splice site probably benign
R0364:Iqgap2 UTSW 13 95,867,783 (GRCm39) splice site probably benign
R0419:Iqgap2 UTSW 13 95,826,207 (GRCm39) critical splice donor site probably null
R1229:Iqgap2 UTSW 13 95,768,673 (GRCm39) missense probably benign 0.32
R1290:Iqgap2 UTSW 13 95,805,021 (GRCm39) missense probably damaging 1.00
R1397:Iqgap2 UTSW 13 95,768,673 (GRCm39) missense probably benign 0.32
R1498:Iqgap2 UTSW 13 95,783,313 (GRCm39) missense probably benign
R1513:Iqgap2 UTSW 13 95,766,518 (GRCm39) missense probably damaging 1.00
R1630:Iqgap2 UTSW 13 95,826,293 (GRCm39) missense probably benign
R2088:Iqgap2 UTSW 13 96,028,171 (GRCm39) critical splice donor site probably null
R2928:Iqgap2 UTSW 13 95,818,744 (GRCm39) missense probably benign
R3026:Iqgap2 UTSW 13 95,809,564 (GRCm39) critical splice acceptor site probably null
R3720:Iqgap2 UTSW 13 95,805,036 (GRCm39) splice site probably null
R3846:Iqgap2 UTSW 13 95,810,186 (GRCm39) splice site probably benign
R4056:Iqgap2 UTSW 13 95,886,541 (GRCm39) missense probably damaging 1.00
R4077:Iqgap2 UTSW 13 95,794,375 (GRCm39) missense probably damaging 1.00
R4353:Iqgap2 UTSW 13 95,807,904 (GRCm39) missense probably damaging 1.00
R4517:Iqgap2 UTSW 13 95,800,569 (GRCm39) critical splice donor site probably null
R4628:Iqgap2 UTSW 13 95,899,837 (GRCm39) missense probably benign 0.17
R4686:Iqgap2 UTSW 13 95,858,117 (GRCm39) missense probably damaging 0.98
R4724:Iqgap2 UTSW 13 95,772,005 (GRCm39) missense possibly damaging 0.73
R4826:Iqgap2 UTSW 13 95,899,783 (GRCm39) missense probably damaging 1.00
R4847:Iqgap2 UTSW 13 95,810,251 (GRCm39) missense probably benign 0.19
R4967:Iqgap2 UTSW 13 95,766,514 (GRCm39) missense probably benign 0.00
R4973:Iqgap2 UTSW 13 95,794,305 (GRCm39) splice site probably null
R5010:Iqgap2 UTSW 13 95,810,251 (GRCm39) missense probably benign 0.19
R5086:Iqgap2 UTSW 13 95,772,088 (GRCm39) missense probably benign 0.01
R5496:Iqgap2 UTSW 13 95,766,561 (GRCm39) missense probably damaging 1.00
R5512:Iqgap2 UTSW 13 95,811,884 (GRCm39) nonsense probably null
R5629:Iqgap2 UTSW 13 95,768,682 (GRCm39) missense probably damaging 1.00
R5824:Iqgap2 UTSW 13 95,811,880 (GRCm39) missense probably damaging 0.99
R5830:Iqgap2 UTSW 13 95,811,880 (GRCm39) missense probably damaging 0.99
R5831:Iqgap2 UTSW 13 95,811,880 (GRCm39) missense probably damaging 0.99
R5832:Iqgap2 UTSW 13 95,811,880 (GRCm39) missense probably damaging 0.99
R5833:Iqgap2 UTSW 13 95,811,880 (GRCm39) missense probably damaging 0.99
R5834:Iqgap2 UTSW 13 95,811,880 (GRCm39) missense probably damaging 0.99
R5852:Iqgap2 UTSW 13 95,811,880 (GRCm39) missense probably damaging 0.99
R5888:Iqgap2 UTSW 13 95,772,118 (GRCm39) missense possibly damaging 0.89
R5889:Iqgap2 UTSW 13 95,768,550 (GRCm39) missense probably benign 0.00
R6093:Iqgap2 UTSW 13 95,765,471 (GRCm39) missense probably damaging 0.99
R6141:Iqgap2 UTSW 13 95,858,194 (GRCm39) splice site probably null
R6404:Iqgap2 UTSW 13 95,865,985 (GRCm39) missense probably benign 0.28
R6434:Iqgap2 UTSW 13 95,819,441 (GRCm39) missense possibly damaging 0.85
R6648:Iqgap2 UTSW 13 95,818,719 (GRCm39) missense probably benign 0.27
R6658:Iqgap2 UTSW 13 95,796,840 (GRCm39) missense probably damaging 1.00
R6903:Iqgap2 UTSW 13 95,797,565 (GRCm39) missense probably damaging 1.00
R7223:Iqgap2 UTSW 13 95,765,480 (GRCm39) missense probably damaging 1.00
R7327:Iqgap2 UTSW 13 95,772,163 (GRCm39) missense probably benign 0.00
R7371:Iqgap2 UTSW 13 95,836,846 (GRCm39) splice site probably null
R7378:Iqgap2 UTSW 13 95,869,398 (GRCm39) critical splice donor site probably null
R7441:Iqgap2 UTSW 13 95,764,584 (GRCm39) missense probably benign 0.23
R7575:Iqgap2 UTSW 13 95,798,131 (GRCm39) missense probably damaging 0.99
R7671:Iqgap2 UTSW 13 95,764,627 (GRCm39) missense probably damaging 0.98
R7713:Iqgap2 UTSW 13 95,867,952 (GRCm39) missense probably benign 0.01
R7806:Iqgap2 UTSW 13 95,818,765 (GRCm39) missense probably benign 0.00
R7893:Iqgap2 UTSW 13 95,826,217 (GRCm39) missense probably damaging 0.96
R8052:Iqgap2 UTSW 13 95,794,387 (GRCm39) missense probably damaging 0.96
R8121:Iqgap2 UTSW 13 95,861,076 (GRCm39) missense probably benign 0.00
R8261:Iqgap2 UTSW 13 95,772,078 (GRCm39) missense probably damaging 1.00
R8301:Iqgap2 UTSW 13 95,818,659 (GRCm39) critical splice donor site probably null
R8369:Iqgap2 UTSW 13 95,798,111 (GRCm39) missense probably damaging 1.00
R8485:Iqgap2 UTSW 13 95,796,659 (GRCm39) missense probably damaging 0.99
R8709:Iqgap2 UTSW 13 95,796,713 (GRCm39) missense probably damaging 0.99
R8710:Iqgap2 UTSW 13 95,796,756 (GRCm39) missense probably benign 0.24
R8737:Iqgap2 UTSW 13 95,802,258 (GRCm39) missense probably damaging 1.00
R8845:Iqgap2 UTSW 13 95,794,392 (GRCm39) missense possibly damaging 0.60
R8902:Iqgap2 UTSW 13 95,818,711 (GRCm39) missense probably benign 0.16
R8957:Iqgap2 UTSW 13 95,772,154 (GRCm39) missense probably damaging 1.00
R9153:Iqgap2 UTSW 13 95,844,547 (GRCm39) missense probably benign
R9259:Iqgap2 UTSW 13 95,766,561 (GRCm39) missense probably damaging 1.00
R9290:Iqgap2 UTSW 13 95,886,523 (GRCm39) missense probably damaging 1.00
R9414:Iqgap2 UTSW 13 95,783,349 (GRCm39) missense
R9432:Iqgap2 UTSW 13 95,774,261 (GRCm39) missense probably benign
R9747:Iqgap2 UTSW 13 95,821,505 (GRCm39) missense probably damaging 1.00
X0066:Iqgap2 UTSW 13 95,807,891 (GRCm39) missense probably damaging 0.98
Z1176:Iqgap2 UTSW 13 95,867,951 (GRCm39) missense possibly damaging 0.92
Posted On 2015-12-18