Incidental Mutation 'R4967:Iqgap2'
ID 384143
Institutional Source Beutler Lab
Gene Symbol Iqgap2
Ensembl Gene ENSMUSG00000021676
Gene Name IQ motif containing GTPase activating protein 2
Synonyms 4933417J23Rik
MMRRC Submission 042563-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4967 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 95763685-96028788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95766514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1496 (D1496E)
Ref Sequence ENSEMBL: ENSMUSP00000067685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068603]
AlphaFold Q3UQ44
Predicted Effect probably benign
Transcript: ENSMUST00000068603
AA Change: D1496E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: D1496E

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
Meta Mutation Damage Score 0.1315 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (102/102)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A T 12: 72,956,502 (GRCm39) Y199* probably null Het
Adhfe1 A T 1: 9,637,029 (GRCm39) I394F probably benign Het
Arhgap26 G T 18: 39,379,893 (GRCm39) R485L probably damaging Het
Atat1 T A 17: 36,212,467 (GRCm39) N231I probably damaging Het
B4galnt2 T C 11: 95,760,100 (GRCm39) N309S probably benign Het
Bank1 A T 3: 135,772,134 (GRCm39) F499I probably damaging Het
Bcl9l A G 9: 44,416,365 (GRCm39) D146G possibly damaging Het
Bglap3 A T 3: 88,283,671 (GRCm39) probably benign Het
Bscl2 C A 19: 8,825,344 (GRCm39) T376K probably benign Het
Cercam A T 2: 29,761,033 (GRCm39) probably null Het
Clec4f C T 6: 83,633,012 (GRCm39) M1I probably null Het
Clec4n A T 6: 123,209,066 (GRCm39) I14F probably benign Het
Cmya5 T C 13: 93,227,093 (GRCm39) E2665G probably damaging Het
Cog4 T A 8: 111,578,915 (GRCm39) probably null Het
Cubn A G 2: 13,352,856 (GRCm39) F1961L probably benign Het
Cyp4a29 A T 4: 115,104,196 (GRCm39) H88L probably benign Het
Dhdh A G 7: 45,128,530 (GRCm39) L216P probably damaging Het
Dpp6 T C 5: 27,871,509 (GRCm39) F544S probably damaging Het
Dthd1 C T 5: 63,045,549 (GRCm39) T771I probably benign Het
Emc10 A G 7: 44,142,612 (GRCm39) probably null Het
Fgg A T 3: 82,920,072 (GRCm39) T284S probably benign Het
Gask1a C T 9: 121,794,784 (GRCm39) R313W probably damaging Het
Gm3002 T A 14: 3,824,737 (GRCm38) N24K probably damaging Het
Gm8674 G A 13: 50,056,034 (GRCm39) noncoding transcript Het
Gpr63 G A 4: 25,008,368 (GRCm39) W364* probably null Het
Hcn4 C G 9: 58,767,111 (GRCm39) P891A unknown Het
Hcrtr1 A T 4: 130,024,792 (GRCm39) F365I possibly damaging Het
Hmcn2 A G 2: 31,244,176 (GRCm39) probably null Het
Hoxc5 T A 15: 102,923,786 (GRCm39) L194H probably damaging Het
Ifna11 A G 4: 88,738,287 (GRCm39) N31S probably null Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Kif28 G T 1: 179,536,007 (GRCm39) Q556K probably damaging Het
Klhl42 C T 6: 147,009,502 (GRCm39) T447I possibly damaging Het
Lrp1b A C 2: 41,678,986 (GRCm39) D35E probably damaging Het
Lsm14b A G 2: 179,675,692 (GRCm39) probably benign Het
Map3k1 T C 13: 111,909,272 (GRCm39) E226G probably damaging Het
Map3k14 T A 11: 103,130,357 (GRCm39) N187Y probably benign Het
Mcm6 A T 1: 128,263,586 (GRCm39) V645E probably damaging Het
Mdh1b G T 1: 63,759,022 (GRCm39) P190Q probably damaging Het
Meiob T G 17: 25,037,353 (GRCm39) L77R probably damaging Het
Mrgpra3 A T 7: 47,239,267 (GRCm39) F220I probably benign Het
Mrtfa C A 15: 80,929,476 (GRCm39) probably benign Het
Mtor T A 4: 148,575,817 (GRCm39) S1324T possibly damaging Het
Myot T A 18: 44,487,995 (GRCm39) D437E possibly damaging Het
Ncoa6 G T 2: 155,263,252 (GRCm39) T394K possibly damaging Het
Nf1 T A 11: 79,456,379 (GRCm39) probably null Het
Nup210 T A 6: 91,013,451 (GRCm39) T1190S possibly damaging Het
Odf1 T A 15: 38,226,652 (GRCm39) I184N probably damaging Het
Or10d1 C T 9: 39,484,054 (GRCm39) C167Y probably damaging Het
Or13d1 T C 4: 52,970,960 (GRCm39) V113A possibly damaging Het
Or1n1b A G 2: 36,780,719 (GRCm39) I47T probably damaging Het
Or5k15 G T 16: 58,709,957 (GRCm39) Q209K possibly damaging Het
Padi1 A G 4: 140,572,901 (GRCm39) V21A probably benign Het
Pdzrn3 C T 6: 101,128,551 (GRCm39) R705H probably damaging Het
Pik3cb T C 9: 98,987,685 (GRCm39) I18V probably benign Het
Pmpca T C 2: 26,280,320 (GRCm39) S117P probably damaging Het
Poteg T A 8: 27,985,009 (GRCm39) probably benign Het
Pramel32 T C 4: 88,547,432 (GRCm39) T80A probably damaging Het
Rab30 G A 7: 92,478,771 (GRCm39) R72H probably damaging Het
Ramp2 T A 11: 101,138,383 (GRCm39) probably null Het
Rbks G A 5: 31,781,876 (GRCm39) T308I probably damaging Het
Rnf112 A G 11: 61,343,752 (GRCm39) probably benign Het
Rnf38 G A 4: 44,152,460 (GRCm39) P3S probably damaging Het
Sec16a A G 2: 26,302,883 (GRCm39) S2344P probably benign Het
Slc16a8 C T 15: 79,137,084 (GRCm39) V109M possibly damaging Het
Slc28a1 A T 7: 80,791,757 (GRCm39) T308S possibly damaging Het
Slc39a3 T C 10: 80,867,453 (GRCm39) T98A possibly damaging Het
Smarcc2 T C 10: 128,319,049 (GRCm39) F731L probably damaging Het
Smc4 A G 3: 68,925,572 (GRCm39) probably benign Het
Sparcl1 T G 5: 104,240,776 (GRCm39) D216A probably damaging Het
Speg G A 1: 75,364,513 (GRCm39) R192H probably damaging Het
Sspo T C 6: 48,441,539 (GRCm39) L1892P probably damaging Het
Styxl2 A T 1: 165,954,675 (GRCm39) V25E probably damaging Het
Tacc2 A G 7: 130,225,678 (GRCm39) N807D probably damaging Het
Teddm1a A T 1: 153,767,979 (GRCm39) K148* probably null Het
Tex15 T A 8: 34,064,498 (GRCm39) D1309E probably benign Het
Thbs1 A T 2: 117,945,259 (GRCm39) E277D probably benign Het
Ticrr G A 7: 79,310,158 (GRCm39) R24Q probably damaging Het
Tigd4 A G 3: 84,502,460 (GRCm39) E459G probably benign Het
Tln2 C A 9: 67,262,407 (GRCm39) A615S probably damaging Het
Tmprss5 T C 9: 49,026,817 (GRCm39) V410A probably damaging Het
Tnrc6a G T 7: 122,789,095 (GRCm39) W1638L probably damaging Het
Tpr A G 1: 150,285,810 (GRCm39) D424G probably damaging Het
Trim34a A T 7: 103,910,271 (GRCm39) K358* probably null Het
Tssk5 T A 15: 76,258,856 (GRCm39) D10V possibly damaging Het
Usp35 A C 7: 96,962,782 (GRCm39) L470R probably damaging Het
Usp42 T C 5: 143,701,119 (GRCm39) D968G possibly damaging Het
Utrn A G 10: 12,331,164 (GRCm39) V2924A probably damaging Het
Wdtc1 C A 4: 133,021,654 (GRCm39) A627S probably damaging Het
Xrra1 A G 7: 99,555,730 (GRCm39) T366A probably damaging Het
Zfp712 T A 13: 67,188,773 (GRCm39) K585* probably null Het
Zfp97 T A 17: 17,365,393 (GRCm39) N297K probably damaging Het
Zfp97 G T 17: 17,364,938 (GRCm39) E146* probably null 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
IGL02927:Iqgap2 APN 13 95,861,184 (GRCm39) missense possibly damaging 0.62
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
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
Predicted Primers PCR Primer
(F):5'- GGACACATAACTTCTGGGTACAC -3'
(R):5'- GCGCTGTCAGGAACATCTTG -3'

Sequencing Primer
(F):5'- CAGTGCCTGATGCTGAAGGTC -3'
(R):5'- TCAGGAACATCTTGACAACAGG -3'
Posted On 2016-04-27