Mutagenetix > Incidental Mutation

Incidental Mutation 'R5834:Iqgap2'

449493

Institutional Source

Beutler Lab

Gene Symbol

Iqgap2

Ensembl Gene

ENSMUSG00000021676

Gene Name

IQ motif containing GTPase activating protein 2

Synonyms

4933417J23Rik

MMRRC Submission

044055-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5834 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95627177-95891922 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 95675372 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 707 (R707H)

Ref Sequence

ENSEMBL: ENSMUSP00000067685 (fasta)

Gene Model

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

AlphaFold

Q3UQ44

Predicted Effect

probably damaging
Transcript: ENSMUST00000068603
AA Change: R707H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: R707H

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

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.7%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428F04Rik	G	A	8: 105,282,123	Q421*	probably null	Het
Abca13	T	C	11: 9,277,974		probably null	Het
Adamts20	A	C	15: 94,353,584	S441A	probably damaging	Het
Aen	T	A	7: 78,907,301	M299K	probably damaging	Het
Akap3	T	C	6: 126,865,833	S472P	probably benign	Het
Ank3	T	G	10: 69,822,257	V158G	probably damaging	Het
Arfgap1	A	G	2: 180,981,162	D324G	probably benign	Het
Aste1	A	T	9: 105,403,415	R448S	probably benign	Het
Atp10a	T	A	7: 58,658,618	L55Q	probably benign	Het
C1qtnf9	G	A	14: 60,779,450	G143D	probably damaging	Het
Camsap2	A	G	1: 136,280,388	V1122A	probably benign	Het
Cbl	T	C	9: 44,233,779	H37R	probably damaging	Het
Cfap61	A	C	2: 146,129,149	D893A	probably benign	Het
Chd2	T	A	7: 73,478,715	I841F	probably damaging	Het
Chd9	A	G	8: 90,997,164	T622A	probably damaging	Het
Cntnap3	A	G	13: 64,748,577	Y1028H	probably benign	Het
Crybg2	A	G	4: 134,074,123	T865A	probably benign	Het
Cyp2c55	A	G	19: 39,042,067	I448V	probably benign	Het
Cyth1	T	A	11: 118,192,463		probably null	Het
Dcaf13	C	T	15: 39,143,642	R324*	probably null	Het
Dhx37	C	A	5: 125,425,730	R42L	probably damaging	Het
Dock1	T	A	7: 134,763,933	V450E	probably damaging	Het
Ednrb	A	G	14: 103,820,877	L330P	probably damaging	Het
Eml4	T	A	17: 83,477,741	H778Q	probably damaging	Het
Evx1	T	A	6: 52,315,990	I227N	probably damaging	Het
G3bp1	T	A	11: 55,497,940	V326E	probably benign	Het
Gata2	T	C	6: 88,200,747	V253A	probably benign	Het
Gbp2	A	G	3: 142,633,377	N397D	probably damaging	Het
Gm14401	C	A	2: 177,086,903	H261N	probably benign	Het
Hacd4	A	T	4: 88,398,152	H243Q	probably benign	Het
Hsd3b1	C	A	3: 98,852,939	K245N	possibly damaging	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Ift27	A	T	15: 78,165,243	C86S	probably damaging	Het
Irs3	T	A	5: 137,644,559	S206C	probably damaging	Het
Lefty2	C	T	1: 180,893,151		probably benign	Het
Mark3	A	G	12: 111,624,487	I162V	probably damaging	Het
Mefv	A	C	16: 3,716,046	D120E	probably damaging	Het
Mep1a	G	A	17: 43,478,164	H574Y	probably benign	Het
Mre11a	A	G	9: 14,799,657	I45V	probably benign	Het
Mtor	A	G	4: 148,536,536	N1797S	possibly damaging	Het
Nav1	A	C	1: 135,532,406	M393R	probably benign	Het
Nod2	T	C	8: 88,664,639	S510P	possibly damaging	Het
Nos2	C	T	11: 78,928,579	T39I	probably benign	Het
Olfr474	T	A	7: 107,954,906	H88Q	probably benign	Het
Olfr93	A	T	17: 37,151,799	Y58N	probably damaging	Het
Pcdh7	A	G	5: 57,721,628	S842G	possibly damaging	Het
Pcdha11	T	C	18: 37,012,623	V589A	probably damaging	Het
Plaa	A	C	4: 94,583,469	V10G	probably damaging	Het
Pprc1	T	A	19: 46,065,220		probably benign	Het
Ptprt	T	C	2: 161,560,269	Y994C	probably damaging	Het
Ripply2	T	A	9: 87,015,890	W37R	probably damaging	Het
Rpgrip1	A	G	14: 52,158,382	D1227G	probably damaging	Het
Scoc	C	T	8: 83,437,631	D10N	possibly damaging	Het
Sdk2	A	T	11: 113,854,273	I732N	probably damaging	Het
Six2	T	C	17: 85,687,664	K97E	probably damaging	Het
Slit2	A	C	5: 48,259,647	N1014H	probably damaging	Het
Smc1b	A	C	15: 85,089,665	L930R	probably damaging	Het
Spag16	T	A	1: 69,923,714	M340K	probably benign	Het
Spata31	C	T	13: 64,922,666	S876L	probably benign	Het
Spen	A	G	4: 141,471,843	Y3135H	possibly damaging	Het
Spta1	A	T	1: 174,184,797		probably null	Het
Stk3	G	A	15: 34,959,018	T336I	probably damaging	Het
Tas2r118	T	A	6: 23,969,877	T62S	probably benign	Het
Tmprss11d	A	G	5: 86,306,310	M212T	probably damaging	Het
Trpc7	A	G	13: 56,776,158	L738P	probably damaging	Het
Ttll8	A	G	15: 88,917,246	V413A	possibly damaging	Het
Usb1	G	A	8: 95,333,533		probably benign	Het
Vmn1r238	T	C	18: 3,123,168	E82G	probably benign	Het
Vmn2r114	T	C	17: 23,310,625	T168A	possibly damaging	Het
Vmn2r60	C	A	7: 42,116,508	P13H	probably benign	Het
Wdr26	A	G	1: 181,203,147	L194P	probably damaging	Het
Zfhx2	G	A	14: 55,073,330	Q636*	probably null	Het
Zfyve26	A	G	12: 79,266,537	Y25H	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
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
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'- ACTTGTAGATGTTCCAGTCCCAGG -3'
(R):5'- TGGCCATTGGGTTCCATTTC -3'

Sequencing Primer
(F):5'- GTCCCAGGACTAACTTGTAAGGCTC -3'
(R):5'- ATTGGGTTCCATTTCTGCCTG -3'

Posted On

2016-12-20