Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02666:Iqgap2'

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

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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