Mutagenetix > Incidental Mutation

Incidental Mutation 'R5086:Iqgap2'

387464

Institutional Source

Beutler Lab

Gene Symbol

Iqgap2

Ensembl Gene

ENSMUSG00000021676

Gene Name

IQ motif containing GTPase activating protein 2

Synonyms

4933417J23Rik

MMRRC Submission

042675-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95627177-95891922 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 95635580 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 1364 (R1364S)

Ref Sequence

ENSEMBL: ENSMUSP00000067685 (fasta)

Gene Model

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

AlphaFold

Q3UQ44

Predicted Effect

probably benign
Transcript: ENSMUST00000068603
AA Change: R1364S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: R1364S

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: 98.4%
10x: 96.3%
20x: 92.3%

Validation Efficiency

99% (80/81)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adsl	T	A	15: 80,963,700	M278K	probably damaging	Het
Ago1	T	C	4: 126,453,604	I147V	probably benign	Het
Ank1	T	C	8: 23,088,618	L261P	probably damaging	Het
Ank2	T	C	3: 126,947,348		probably benign	Het
Ap1b1	T	C	11: 5,018,020	V177A	possibly damaging	Het
Arhgap21	A	G	2: 20,848,834	S1906P	probably benign	Het
Asb1	A	G	1: 91,554,811	Y214C	probably benign	Het
BC049715	C	T	6: 136,840,431	T223M	probably damaging	Het
C1ra	T	A	6: 124,519,729	C375S	probably damaging	Het
C530008M17Rik	A	G	5: 76,857,124	E444G	unknown	Het
Cdh26	C	T	2: 178,441,417	R26*	probably null	Het
Chordc1	A	G	9: 18,312,835	M304V	probably benign	Het
Cpne8	T	C	15: 90,648,568		probably benign	Het
Csf1	T	C	3: 107,748,710	E335G	possibly damaging	Het
Ctnnd2	C	T	15: 30,683,347	P498L	possibly damaging	Het
Cyp4f18	C	T	8: 72,002,432	R100H	probably benign	Het
Dnaaf2	G	A	12: 69,197,286	R334C	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dock10	A	G	1: 80,551,472	S1071P	possibly damaging	Het
Dtnb	T	C	12: 3,632,942	V7A	probably benign	Het
Eif1	T	C	11: 100,320,726	I62T	probably damaging	Het
Fbxo44	T	A	4: 148,156,212	T145S	probably benign	Het
G530012D18Rik	G	C	1: 85,577,220		probably benign	Het
Gabbr2	A	T	4: 46,724,342	M17K	probably damaging	Het
Gm1966	A	T	7: 106,598,027		noncoding transcript	Het
Gm5860	T	A	4: 82,065,936		noncoding transcript	Het
Gm7964	T	A	7: 83,757,352	F439Y	possibly damaging	Het
Gpbp1l1	C	A	4: 116,588,592	T297N	probably benign	Het
Greb1	C	T	12: 16,708,022		probably benign	Het
Hkdc1	T	C	10: 62,395,274		probably benign	Het
Ighv16-1	T	A	12: 114,068,890	L97F	probably benign	Het
Il21r	A	G	7: 125,632,855	D485G	probably damaging	Het
Inpp5d	A	G	1: 87,705,964	H441R	probably damaging	Het
Krtap20-2	G	T	16: 89,205,918	C2F	unknown	Het
Man2c1	T	A	9: 57,131,640	D111E	probably damaging	Het
Map1a	G	A	2: 121,304,504	E1696K	probably damaging	Het
Mdc1	T	A	17: 35,848,630	V634E	probably benign	Het
Mgam2-ps	A	G	6: 40,823,613		noncoding transcript	Het
Mllt3	T	A	4: 87,789,298	N68Y	probably damaging	Het
Mrps18a	T	A	17: 46,125,695	D143E	probably benign	Het
Myl12a	T	C	17: 70,994,616	D172G	possibly damaging	Het
Notch3	T	C	17: 32,143,334	N1439S	probably benign	Het
Npepps	T	C	11: 97,217,799	M764V	probably benign	Het
Olfr926	T	C	9: 38,877,791	L205P	probably damaging	Het
Paxbp1	A	T	16: 91,015,216		probably benign	Het
Pcdhb7	A	T	18: 37,343,109	T433S	possibly damaging	Het
Pcdhb8	A	T	18: 37,356,106	Y279F	probably damaging	Het
Pim3	T	C	15: 88,864,403	L235P	probably damaging	Het
Plekha4	C	T	7: 45,553,658	S685F	possibly damaging	Het
Plekhg1	C	A	10: 3,903,649	H167Q	probably damaging	Het
Plekhn1	G	C	4: 156,222,424	P503A	probably benign	Het
Sar1a	T	C	10: 61,691,346	L181P	probably damaging	Het
Sec22a	G	T	16: 35,347,742	S133*	probably null	Het
Sipa1l3	G	A	7: 29,348,575	S247F	probably damaging	Het
Slc31a1	T	C	4: 62,387,953	S103P	probably damaging	Het
Spag6	A	C	2: 18,742,877		probably benign	Het
Stab1	T	A	14: 31,143,624	D1769V	probably damaging	Het
Stab1	G	A	14: 31,159,304	L590F	probably damaging	Het
Syde2	CAGTT	CAGTTAGTT	3: 146,001,408		probably null	Het
Tbc1d2b	A	G	9: 90,227,457	L322P	probably benign	Het
Tdrp	T	C	8: 13,974,590	E18G	possibly damaging	Het
Tlr3	T	A	8: 45,402,825	N106I	probably damaging	Het
Tmem104	T	A	11: 115,201,401	I112N	probably damaging	Het
Tmem14c	C	T	13: 41,021,122	T69I	probably benign	Het
Tmprss11g	G	A	5: 86,496,518	P156S	possibly damaging	Het
Ttn	A	T	2: 76,870,603		probably benign	Het
Vmn1r45	A	T	6: 89,933,100	I296N	probably benign	Het
Vmn2r1	T	A	3: 64,089,997	V358D	probably benign	Het
Zc3h7b	T	C	15: 81,793,174	L892P	probably damaging	Het
Zfp366	A	G	13: 99,228,943	Q204R	probably benign	Het
Zfp598	C	A	17: 24,680,898		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
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'- CGCATGTGCCAACAAAGGTC -3'
(R):5'- CTTTGGCCAAATTAGGTCCAG -3'

Sequencing Primer
(F):5'- TCTAGGTGGAAAAGAAAGCTATTCCC -3'
(R):5'- GGCCAAATTAGGTCCAGTATTACATC -3'

Posted On

2016-06-06