Incidental Mutation 'R7223:Iqgap2'
ID 561970
Institutional Source Beutler Lab
Gene Symbol Iqgap2
Ensembl Gene ENSMUSG00000021676
Gene Name IQ motif containing GTPase activating protein 2
Synonyms 4933417J23Rik
MMRRC Submission 045295-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7223 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 95627177-95891922 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95628972 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1530 (M1530K)
Ref Sequence ENSEMBL: ENSMUSP00000067685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068603]
AlphaFold Q3UQ44
Predicted Effect probably damaging
Transcript: ENSMUST00000068603
AA Change: M1530K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: M1530K

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,274,143 (GRCm38) V733E probably benign Het
Adam34 A T 8: 43,652,004 (GRCm38) N201K probably benign Het
Aldh3b2 A C 19: 3,979,592 (GRCm38) S322R probably damaging Het
Anpep A T 7: 79,825,310 (GRCm38) L914Q probably damaging Het
Arhgap30 T C 1: 171,407,571 (GRCm38) F535S probably damaging Het
Baiap3 G A 17: 25,243,840 (GRCm38) R1075C probably benign Het
Baz2a G T 10: 128,112,606 (GRCm38) G252V probably damaging Het
Brinp3 T A 1: 146,901,074 (GRCm38) S420T possibly damaging Het
Carmil3 T C 14: 55,496,238 (GRCm38) F359S possibly damaging Het
Ccdc124 A T 8: 70,868,526 (GRCm38) L190Q probably damaging Het
Ccr6 T C 17: 8,256,140 (GRCm38) V59A probably damaging Het
Ccr8 T A 9: 120,094,617 (GRCm38) I266N probably damaging Het
Cdh23 T A 10: 60,331,817 (GRCm38) E1798V probably damaging Het
Cdk5rap2 T C 4: 70,235,447 (GRCm38) N1713S probably benign Het
Cep19 T A 16: 32,104,015 (GRCm38) I33N probably damaging Het
Cers3 A T 7: 66,783,415 (GRCm38) Y196F probably damaging Het
Cidea T C 18: 67,366,421 (GRCm38) I126T probably damaging Het
Copg2 A T 6: 30,812,754 (GRCm38) Y546* probably null Het
Cul3 A T 1: 80,287,000 (GRCm38) V261E probably benign Het
Cyp2g1 A T 7: 26,814,632 (GRCm38) D221V probably damaging Het
Cyp8b1 G A 9: 121,915,097 (GRCm38) H390Y probably damaging Het
Daam1 T C 12: 71,988,943 (GRCm38) F971L probably damaging Het
Dnajc24 G A 2: 106,001,966 (GRCm38) S24L possibly damaging Het
Dpysl3 T C 18: 43,438,042 (GRCm38) S56G probably benign Het
Esp1 A G 17: 40,731,081 (GRCm38) D88G probably benign Het
Fam171b A G 2: 83,878,230 (GRCm38) T359A probably damaging Het
Fam186b T C 15: 99,279,837 (GRCm38) E536G possibly damaging Het
Fbxo3 T C 2: 104,043,012 (GRCm38) V156A possibly damaging Het
Gls2 C A 10: 128,199,194 (GRCm38) H65Q probably benign Het
Gp2 A G 7: 119,451,498 (GRCm38) probably null Het
Gpcpd1 T A 2: 132,534,056 (GRCm38) K435I probably benign Het
Gpx6 T A 13: 21,317,670 (GRCm38) probably null Het
Hps3 A T 3: 20,030,419 (GRCm38) S202T probably benign Het
Htr1d T A 4: 136,443,501 (GRCm38) L347H probably damaging Het
Igfals T C 17: 24,881,234 (GRCm38) L433P probably damaging Het
Ilvbl C T 10: 78,583,696 (GRCm38) H537Y probably benign Het
Jarid2 A G 13: 44,896,322 (GRCm38) T247A possibly damaging Het
L3hypdh C T 12: 72,074,009 (GRCm38) V323I possibly damaging Het
Lama3 C T 18: 12,582,608 (GRCm38) T1707I possibly damaging Het
Map6 G T 7: 99,268,025 (GRCm38) A2S probably damaging Het
Mfap3 T A 11: 57,530,240 (GRCm38) I349K probably benign Het
Mybl2 A G 2: 163,072,705 (GRCm38) T248A probably benign Het
N6amt1 A G 16: 87,362,660 (GRCm38) *151W probably null Het
Nhlrc1 A G 13: 47,014,208 (GRCm38) V191A probably benign Het
Nkx2-5 T C 17: 26,839,620 (GRCm38) E120G possibly damaging Het
Olfr1066 T A 2: 86,455,867 (GRCm38) I135F possibly damaging Het
Olfr1380 T A 11: 49,564,098 (GRCm38) M59K probably damaging Het
Olfr582 C A 7: 103,041,632 (GRCm38) T46N possibly damaging Het
Olfr890 T C 9: 38,143,753 (GRCm38) V201A probably benign Het
Pcdha8 T G 18: 36,993,148 (GRCm38) L228V probably benign Het
Pcsk2 A G 2: 143,690,333 (GRCm38) T134A possibly damaging Het
Phldb3 G A 7: 24,624,653 (GRCm38) R484Q probably benign Het
Pipox A G 11: 77,881,186 (GRCm38) S371P probably damaging Het
Plekhg1 T C 10: 3,873,343 (GRCm38) S159P Het
Psme4 C T 11: 30,874,226 (GRCm38) P1737S probably benign Het
Pygm G A 19: 6,388,863 (GRCm38) D328N probably benign Het
Rabgef1 A T 5: 130,190,960 (GRCm38) E88V probably benign Het
Rims2 G T 15: 39,437,032 (GRCm38) R245L probably benign Het
Slc38a4 T C 15: 97,010,345 (GRCm38) I172V probably damaging Het
Slc4a10 T A 2: 62,268,665 (GRCm38) Y586N probably damaging Het
Snap91 C T 9: 86,879,557 (GRCm38) probably benign Het
Sorcs1 C T 19: 50,190,042 (GRCm38) V881I probably benign Het
Spef2 A T 15: 9,601,640 (GRCm38) V1512E unknown Het
Sufu T C 19: 46,453,277 (GRCm38) I292T possibly damaging Het
Tet1 T C 10: 62,813,671 (GRCm38) N87D possibly damaging Het
Tmem108 T C 9: 103,499,534 (GRCm38) T239A not run Het
Tmem121 A T 12: 113,188,494 (GRCm38) K111* probably null Het
Tpp2 T A 1: 43,968,888 (GRCm38) D417E probably damaging Het
Tpr G A 1: 150,439,256 (GRCm38) E2025K possibly damaging Het
Trappc3 C T 4: 126,275,152 (GRCm38) A145V possibly damaging Het
Ttn T C 2: 76,890,981 (GRCm38) D6754G probably null Het
Unc13c T A 9: 73,629,191 (GRCm38) M1627L probably benign Het
Ush2a A G 1: 188,810,217 (GRCm38) I3327V probably benign Het
Vmn1r74 C T 7: 11,846,967 (GRCm38) Q65* probably null Het
Wdr18 G A 10: 79,960,368 (GRCm38) R69H probably damaging Het
Zbed5 G T 5: 129,900,438 (GRCm38) D132Y probably damaging Het
Zfp644 A T 5: 106,637,582 (GRCm38) Y366* probably null Het
Zfyve26 T C 12: 79,246,171 (GRCm38) N2068S probably damaging Het
Zic2 T C 14: 122,476,091 (GRCm38) F139S probably damaging Het
Zmynd11 T C 13: 9,710,162 (GRCm38) Q141R probably benign Het
Zrsr1 A G 11: 22,973,388 (GRCm38) E54G probably benign Het
Zscan10 G A 17: 23,609,482 (GRCm38) D333N 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
IGL02666:Iqgap2 APN 13 95,628,056 (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
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
Predicted Primers PCR Primer
(F):5'- TTGGCCTTGAGCTTCAGCAC -3'
(R):5'- TGCTCACTGGTCCTGAGTTGAG -3'

Sequencing Primer
(F):5'- CCAGGAATTAAACTCAGGGCTTTCG -3'
(R):5'- CCTGAGTTGAGGCTCTGTTAG -3'
Posted On 2019-06-26