Mutagenetix > Incidental Mutation

Incidental Mutation 'R1498:Iqgap2'

169067

Institutional Source

Beutler Lab

Gene Symbol

Iqgap2

Ensembl Gene

ENSMUSG00000021676

Gene Name

IQ motif containing GTPase activating protein 2

Synonyms

4933417J23Rik

MMRRC Submission

039549-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95627177-95891922 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 95646805 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1288 (V1288I)

Ref Sequence

ENSEMBL: ENSMUSP00000067685 (fasta)

Gene Model

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

AlphaFold

Q3UQ44

Predicted Effect

probably benign
Transcript: ENSMUST00000068603
AA Change: V1288I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: V1288I

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

97% (83/86)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	G	6: 48,931,371	H435R	probably benign	Het
Acly	A	G	11: 100,483,801	S799P	probably benign	Het
Acvr1b	T	C	15: 101,194,010	F57S	probably benign	Het
Adamts5	T	A	16: 85,900,102	T56S	possibly damaging	Het
Adrb2	T	C	18: 62,178,933	T274A	probably damaging	Het
Agr3	A	T	12: 35,934,380		probably null	Het
Ankrd6	A	G	4: 32,810,289	M405T	probably benign	Het
Aqp5	T	C	15: 99,593,247	I60T	probably damaging	Het
Arf5	G	T	6: 28,426,154	R180L	probably benign	Het
Asap3	A	G	4: 136,239,194	N528D	probably benign	Het
Atmin	G	A	8: 116,954,801	E180K	probably benign	Het
Bcl11a	A	T	11: 24,164,005	E449D	probably damaging	Het
Cep128	A	T	12: 91,366,417	F25I	probably benign	Het
Cfp	GCAC	GC	X: 20,929,666		probably null	Het
Chpt1	T	A	10: 88,477,104	Y282F	possibly damaging	Het
Cul7	A	G	17: 46,655,710	D355G	probably benign	Het
Daxx	T	C	17: 33,912,253	Y385H	probably damaging	Het
Dnah2	A	C	11: 69,520,667		probably null	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 55,080,176		probably benign	Het
Erc2	T	A	14: 28,302,898	M578K	probably benign	Het
Evc	T	A	5: 37,323,700	H267L	possibly damaging	Het
Exosc10	A	C	4: 148,581,786	Q837P	possibly damaging	Het
Fasn	G	A	11: 120,815,419	T1033I	probably damaging	Het
Fat1	C	A	8: 45,025,484	Y2522*	probably null	Het
Fbxw8	G	A	5: 118,065,785		probably benign	Het
Fyn	A	G	10: 39,532,124	D321G	possibly damaging	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Gm156	A	G	6: 129,771,740	S105P	probably damaging	Het
Grm6	G	A	11: 50,857,256	V398M	probably damaging	Het
Gtpbp1	T	A	15: 79,719,021		probably null	Het
Hnf1a	A	G	5: 114,970,537	V103A	probably damaging	Het
Hsp90aa1	A	T	12: 110,695,688		probably null	Het
Irx5	A	G	8: 92,359,886	D199G	probably damaging	Het
Krt9	G	T	11: 100,188,369	C732*	probably null	Het
Lifr	T	C	15: 7,190,618	S910P	probably damaging	Het
Lrig1	G	A	6: 94,627,987	A209V	possibly damaging	Het
Lrrk1	T	A	7: 66,302,671	R506*	probably null	Het
Lyst	T	A	13: 13,650,375	I1525K	possibly damaging	Het
Mad2l1	C	T	6: 66,539,842	Q173*	probably null	Het
Mcoln1	T	A	8: 3,512,861	I524N	probably damaging	Het
Mmp3	A	T	9: 7,446,967	D49V	possibly damaging	Het
Morc3	A	T	16: 93,853,855	N321I	probably damaging	Het
Mrpl48	T	C	7: 100,546,488		probably benign	Het
Myo6	T	A	9: 80,307,679	D1231E	probably damaging	Het
Nlrc4	A	G	17: 74,446,413	I325T	probably benign	Het
Olfr1079	A	G	2: 86,538,558	V117A	probably benign	Het
Olfr1314	A	T	2: 112,092,593	M36K	probably benign	Het
Olfr348	A	T	2: 36,787,346	I274F	probably damaging	Het
Olfr699	T	C	7: 106,790,416	Y195C	possibly damaging	Het
Olfr894	C	G	9: 38,219,380	P183A	probably damaging	Het
Parvg	T	A	15: 84,334,631	S230T	possibly damaging	Het
Pcca	T	C	14: 122,616,818	I118T	probably damaging	Het
Pde6a	A	G	18: 61,232,860	N219S	possibly damaging	Het
Phldb1	G	T	9: 44,701,618	P935Q	possibly damaging	Het
Plppr5	T	C	3: 117,662,612	S261P	probably damaging	Het
Ppl	T	C	16: 5,104,765	N260S	probably benign	Het
Ppp1r3e	A	T	14: 54,876,425	H263Q	probably benign	Het
Ppp3cb	T	C	14: 20,509,499		probably null	Het
Ppt2	A	T	17: 34,623,101	D185E	probably benign	Het
Prr27	A	T	5: 87,850,741		probably benign	Het
Ptcd3	A	T	6: 71,893,495	V327E	probably damaging	Het
Rsf1	GCG	GCGACG	7: 97,579,907		probably benign	Het
Rtp1	A	T	16: 23,431,220	M112L	probably benign	Het
Slc22a5	A	T	11: 53,869,314	L392Q	probably damaging	Het
Slc6a7	A	G	18: 60,996,692	I614T	probably benign	Het
Slu7	C	A	11: 43,438,217	P89T	possibly damaging	Het
Smarcc2	T	C	10: 128,482,192	V618A	probably benign	Het
Sorl1	C	T	9: 42,041,073	R729Q	probably damaging	Het
Sptbn2	T	C	19: 4,744,246	F1493L	possibly damaging	Het
Sulf1	C	T	1: 12,848,350	T66I	probably damaging	Het
Tgtp2	A	G	11: 49,059,338	Y136H	probably damaging	Het
Tmem117	T	C	15: 94,638,361	F92S	probably damaging	Het
Tmprss9	T	A	10: 80,895,100	V820E	probably benign	Het
Tpcn2	A	G	7: 145,268,911	Y266H	probably damaging	Het
Trat1	A	G	16: 48,734,941	S143P	probably benign	Het
Vmn1r49	T	A	6: 90,072,316	R235W	probably damaging	Het
Vmn1r71	A	T	7: 10,748,648	C38S	probably benign	Het
Vmn2r6	T	A	3: 64,556,469	T315S	probably damaging	Het
Wdr36	A	G	18: 32,852,968	D575G	possibly damaging	Het
Zfp292	G	T	4: 34,805,397	A2549E	possibly damaging	Het
Zfp354a	A	T	11: 51,070,246	H426L	probably damaging	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het
Zfp648	T	A	1: 154,205,373	I426N	probably damaging	Het
Zfp72	T	C	13: 74,372,617	N114S	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
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

Predicted Primers

PCR Primer
(F):5'- GGAATGAGCATAAACCCAGTCTCTCAC -3'
(R):5'- CCAGTCCAGATGTCCTAGAATACGCAG -3'

Sequencing Primer
(F):5'- TATACTAACAACAAAGTTGGGCTGG -3'
(R):5'- TTATGAGGCCCGTAAATCTCC -3'

Posted On

2014-04-13