Mutagenetix > Incidental Mutation

Incidental Mutation 'R4826:Iqgap2'

374161

Institutional Source

Beutler Lab

Gene Symbol

Iqgap2

Ensembl Gene

ENSMUSG00000021676

Gene Name

IQ motif containing GTPase activating protein 2

Synonyms

4933417J23Rik

MMRRC Submission

042442-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95627177-95891922 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95763275 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 92 (I92F)

Ref Sequence

ENSEMBL: ENSMUSP00000067685 (fasta)

Gene Model

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

AlphaFold

Q3UQ44

Predicted Effect

probably damaging
Transcript: ENSMUST00000068603
AA Change: I92F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: I92F

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

Meta Mutation Damage Score

0.8670

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (72/72)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	G	T	18: 12,185,779		probably benign	Het
Abca14	A	T	7: 120,216,247	R239S	probably damaging	Het
Acin1	A	G	14: 54,664,617	S573P	probably damaging	Het
Acta2	A	T	19: 34,251,823	Y55*	probably null	Het
Aifm2	T	C	10: 61,725,989	M38T	probably benign	Het
Ank2	C	A	3: 126,956,001	V460L	probably benign	Het
Ap1b1	T	C	11: 5,018,043	S185P	probably benign	Het
Arsj	A	G	3: 126,438,802	Y399C	probably damaging	Het
Clec2d	T	C	6: 129,184,159	V73A	probably benign	Het
Cntln	T	G	4: 85,005,044	M582R	probably benign	Het
Cyp4a10	C	T	4: 115,518,344	P8L	probably benign	Het
Dip2b	A	G	15: 100,169,281	N555D	probably damaging	Het
Dusp4	T	A	8: 34,818,517	F311I	probably damaging	Het
Eif4g3	T	C	4: 138,177,945	V1245A	possibly damaging	Het
Ephb3	G	A	16: 21,214,995	R23H	possibly damaging	Het
Ext2	T	C	2: 93,762,630	T410A	probably benign	Het
Fam193a	A	G	5: 34,436,531	E124G	probably damaging	Het
Fat4	T	A	3: 38,982,957	V3586E	probably damaging	Het
Frmd4a	T	C	2: 4,601,297	S611P	probably damaging	Het
Gcn1l1	A	G	5: 115,593,693	T956A	probably benign	Het
Gm10549	C	A	18: 33,470,785	T107K	unknown	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Herc6	T	A	6: 57,647,087	M614K	probably benign	Het
Hspg2	T	C	4: 137,565,395	C4095R	probably damaging	Het
Hyal5	T	C	6: 24,891,576	I463T	possibly damaging	Het
Icam5	C	T	9: 21,037,803	A817V	possibly damaging	Het
Igf2r	A	T	17: 12,701,353	D1366E	probably damaging	Het
Ints7	G	A	1: 191,611,906	V553I	probably damaging	Het
Itgb1	T	A	8: 128,720,308	C435S	probably damaging	Het
Lrrc71	T	C	3: 87,743,308	M216V	probably benign	Het
Mgam	T	C	6: 40,680,648	V979A	possibly damaging	Het
Myh9	A	T	15: 77,788,946	Y400*	probably null	Het
Narfl	A	G	17: 25,780,332	H240R	probably damaging	Het
Nbeal1	A	G	1: 60,251,342	R1033G	possibly damaging	Het
Nit1	T	C	1: 171,345,598		probably benign	Het
Nlrp1c-ps	A	G	11: 71,242,517		noncoding transcript	Het
Nt5c1a	T	C	4: 123,208,572	V97A	probably damaging	Het
Olfr1154	T	A	2: 87,903,349	D109V	probably damaging	Het
Olfr358	A	G	2: 37,005,333	Y94H	probably damaging	Het
Olfr43	A	G	11: 74,206,331	M295T	possibly damaging	Het
Olfr46	T	A	7: 140,610,319	M51K	probably benign	Het
Olfr683	G	T	7: 105,143,968	N108K	probably damaging	Het
Pde4a	T	A	9: 21,192,380		probably null	Het
Pkn2	T	C	3: 142,809,509	K640R	probably damaging	Het
Pla2g6	A	G	15: 79,308,679	S263P	possibly damaging	Het
Prkg1	A	G	19: 31,764,606	S73P	possibly damaging	Het
Prr27	A	C	5: 87,850,966		probably benign	Het
Rad54b	G	T	4: 11,599,753	W319L	probably damaging	Het
Rassf8	T	A	6: 145,816,550	L349H	probably damaging	Het
Rnf113a2	T	A	12: 84,417,614	N93K	probably benign	Het
Sapcd2	C	T	2: 25,372,756	A109V	probably benign	Het
Slamf9	C	A	1: 172,476,441	H118N	probably benign	Het
Slc37a1	A	G	17: 31,322,173	Y213C	probably damaging	Het
Slc5a1	A	G	5: 33,159,150	D580G	probably benign	Het
Slc7a2	T	A	8: 40,911,046	I432N	probably damaging	Het
Tas2r114	A	T	6: 131,689,837	L76Q	probably damaging	Het
Tcerg1	C	T	18: 42,535,115	P391L	unknown	Het
Tdrd12	A	C	7: 35,504,157	V314G	probably benign	Het
Zbtb7b	A	G	3: 89,380,773	L246S	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
IGL02943:Iqgap2	APN	13	95661735	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CTCAGGAATGACTTTTCAAAGACC -3'
(R):5'- ACAGTGTCTCCAGCACACAG -3'

Sequencing Primer
(F):5'- GACTTTTCAAAGACCAAGGATATCC -3'
(R):5'- ATGGACTGTCACCTACCTGGAATC -3'

Posted On

2016-03-01