Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02943:Iqgap2'

364629

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 #

IGL02943

Quality Score

Status

Chromosome

Chromosomal Location

95627177-95891922 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 95661735 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000067685 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068603]

AlphaFold

Q3UQ44

Predicted Effect

probably benign
Transcript: ENSMUST00000068603

SMART Domains

Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,147,188	R1102G	probably damaging	Het
Akp3	T	A	1: 87,126,369	Y236*	probably null	Het
Ankrd13c	C	T	3: 157,947,927	T134M	probably damaging	Het
Arhgef18	T	C	8: 3,448,553	S529P	probably damaging	Het
Cdkl2	T	A	5: 92,037,244	N96I	possibly damaging	Het
Cep57	A	T	9: 13,818,853		probably benign	Het
Chchd7	T	C	4: 3,942,796	Y44H	probably damaging	Het
Ciart	T	C	3: 95,879,002	I254V	possibly damaging	Het
Cyp2a12	T	C	7: 27,032,542	I236T	probably benign	Het
Dlgap5	A	G	14: 47,412,976		probably null	Het
Ednra	T	A	8: 77,720,054	I132F	probably damaging	Het
En2	T	C	5: 28,166,526		probably benign	Het
Fsip2	C	A	2: 82,992,357	Q6145K	probably benign	Het
Galnt5	A	T	2: 57,999,768	D460V	probably damaging	Het
Gm6401	C	T	14: 41,966,894	E73K	possibly damaging	Het
Gpr84	T	C	15: 103,308,889	I254V	probably benign	Het
Hacd3	A	T	9: 64,990,436	I298N	probably damaging	Het
Hyal6	T	A	6: 24,743,439	V378E	probably damaging	Het
Il20rb	G	T	9: 100,466,252	H210N	probably benign	Het
Itga1	C	T	13: 115,049,296	E57K	possibly damaging	Het
Jmjd1c	T	A	10: 67,219,654	D571E	probably damaging	Het
Kmt2c	T	C	5: 25,290,823	S623G	probably damaging	Het
L3mbtl2	T	A	15: 81,686,255	S645T	possibly damaging	Het
Lrp2	A	G	2: 69,455,510	V3779A	possibly damaging	Het
Lrpprc	T	C	17: 84,771,450	R279G	probably benign	Het
Lurap1l	A	G	4: 80,953,635	K122E	probably damaging	Het
Met	T	C	6: 17,535,929	Y785H	possibly damaging	Het
Myh3	T	C	11: 67,091,065	F796L	probably benign	Het
Myo16	T	C	8: 10,400,595		probably benign	Het
Nedd4l	T	C	18: 65,161,652		probably null	Het
Nlrp4c	T	C	7: 6,065,975	C292R	probably damaging	Het
Nmnat1	A	G	4: 149,473,288	L99P	probably damaging	Het
Olfr340	A	T	2: 36,453,039	L151F	probably benign	Het
Olfr488	A	G	7: 108,255,416	F241L	possibly damaging	Het
Pclo	T	C	5: 14,669,221	V1124A	unknown	Het
Phf20l1	A	G	15: 66,594,884	Y54C	probably damaging	Het
Postn	T	C	3: 54,377,608		probably null	Het
Ppp2r1b	A	G	9: 50,883,585	D570G	probably damaging	Het
Prdm2	A	C	4: 143,131,972	S1583A	probably benign	Het
Proser1	T	C	3: 53,479,103	V802A	probably damaging	Het
Ptprc	A	T	1: 138,099,513	N532K	probably damaging	Het
Ptprk	A	G	10: 28,475,176	H555R	possibly damaging	Het
Ranbp6	T	C	19: 29,812,124	D276G	possibly damaging	Het
Rasgrf2	A	G	13: 91,983,633	V635A	probably damaging	Het
Rbm5	T	C	9: 107,744,343	Y620C	probably damaging	Het
Sall1	C	T	8: 89,031,121	R785H	probably damaging	Het
Slc22a2	G	T	17: 12,610,061	L351F	probably damaging	Het
Sorcs3	A	T	19: 48,759,938	Q782L	probably benign	Het
Sphkap	A	T	1: 83,276,831	S779T	probably damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tas2r107	T	A	6: 131,659,406	M227L	probably damaging	Het
Tecpr2	C	T	12: 110,967,749	T1281I	probably benign	Het
Topbp1	T	A	9: 103,328,440	V759E	probably benign	Het
Trim2	T	C	3: 84,178,176	T504A	probably benign	Het
Trpc1	A	G	9: 95,708,853		probably benign	Het
Tssk4	T	A	14: 55,651,566	V183E	probably damaging	Het
Vmn1r202	T	C	13: 22,502,194	T18A	probably benign	Het
Vmn1r225	T	C	17: 20,502,305	S3P	possibly damaging	Het
Vmn2r101	T	A	17: 19,611,404	V554E	probably damaging	Het
Vps13a	T	C	19: 16,663,886	I2291V	probably damaging	Het
Vps39	A	G	2: 120,339,487	S195P	possibly damaging	Het
Zfand4	T	A	6: 116,273,876		probably benign	Het

Other mutations in Iqgap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02685:Iqgap2	APN	13	95671404	missense	probably damaging	1.00
IGL02927:Iqgap2	APN	13	95724676	missense	possibly damaging	0.62
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
G1Funyon:Iqgap2	UTSW	13	95682151	critical splice donor site	probably null
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
R7223:Iqgap2	UTSW	13	95628972	missense	probably damaging	1.00
R7327:Iqgap2	UTSW	13	95635655	missense	probably benign	0.00
R7371:Iqgap2	UTSW	13	95700338	splice site	probably null
R7378:Iqgap2	UTSW	13	95732890	critical splice donor site	probably null
R7441:Iqgap2	UTSW	13	95628076	missense	probably benign	0.23
R7575:Iqgap2	UTSW	13	95661623	missense	probably damaging	0.99
R7671:Iqgap2	UTSW	13	95628119	missense	probably damaging	0.98
R7713:Iqgap2	UTSW	13	95731444	missense	probably benign	0.01
R7806:Iqgap2	UTSW	13	95682257	missense	probably benign	0.00
R7893:Iqgap2	UTSW	13	95689709	missense	probably damaging	0.96
R8052:Iqgap2	UTSW	13	95657879	missense	probably damaging	0.96
R8121:Iqgap2	UTSW	13	95724568	missense	probably benign	0.00
R8261:Iqgap2	UTSW	13	95635570	missense	probably damaging	1.00
R8301:Iqgap2	UTSW	13	95682151	critical splice donor site	probably null
R8369:Iqgap2	UTSW	13	95661603	missense	probably damaging	1.00
R8485:Iqgap2	UTSW	13	95660151	missense	probably damaging	0.99
R8709:Iqgap2	UTSW	13	95660205	missense	probably damaging	0.99
R8710:Iqgap2	UTSW	13	95660248	missense	probably benign	0.24
R8737:Iqgap2	UTSW	13	95665750	missense	probably damaging	1.00
R8845:Iqgap2	UTSW	13	95657884	missense	possibly damaging	0.60
R8902:Iqgap2	UTSW	13	95682203	missense	probably benign	0.16
R8957:Iqgap2	UTSW	13	95635646	missense	probably damaging	1.00
R9153:Iqgap2	UTSW	13	95708039	missense	probably benign
R9259:Iqgap2	UTSW	13	95630053	missense	probably damaging	1.00
R9290:Iqgap2	UTSW	13	95750015	missense	probably damaging	1.00
R9414:Iqgap2	UTSW	13	95646841	missense
R9432:Iqgap2	UTSW	13	95637753	missense	probably benign
R9747:Iqgap2	UTSW	13	95684997	missense	probably damaging	1.00
X0066:Iqgap2	UTSW	13	95671383	missense	probably damaging	0.98
Z1176:Iqgap2	UTSW	13	95731443	missense	possibly damaging	0.92

Posted On

2015-12-18