Mutagenetix > Incidental Mutation

Incidental Mutation 'R4967:Iqgap2'

384143

Institutional Source

Beutler Lab

Gene Symbol

Iqgap2

Ensembl Gene

ENSMUSG00000021676

Gene Name

IQ motif containing GTPase activating protein 2

Synonyms

4933417J23Rik

MMRRC Submission

042563-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4967 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95627177-95891922 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95630006 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1496 (D1496E)

Ref Sequence

ENSEMBL: ENSMUSP00000067685 (fasta)

Gene Model

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

AlphaFold

Q3UQ44

Predicted Effect

probably benign
Transcript: ENSMUST00000068603
AA Change: D1496E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: D1496E

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

0.1315

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (102/102)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,909,728	Y199*	probably null	Het
Adhfe1	A	T	1: 9,566,804	I394F	probably benign	Het
Arhgap26	G	T	18: 39,246,840	R485L	probably damaging	Het
Atat1	T	A	17: 35,901,575	N231I	probably damaging	Het
B4galnt2	T	C	11: 95,869,274	N309S	probably benign	Het
Bank1	A	T	3: 136,066,373	F499I	probably damaging	Het
Bcl9l	A	G	9: 44,505,068	D146G	possibly damaging	Het
Bglap3	A	T	3: 88,376,364		probably benign	Het
Bscl2	C	A	19: 8,847,980	T376K	probably benign	Het
C87499	T	C	4: 88,629,195	T80A	probably damaging	Het
Cercam	A	T	2: 29,871,021		probably null	Het
Clec4f	C	T	6: 83,656,030	M1I	probably null	Het
Clec4n	A	T	6: 123,232,107	I14F	probably benign	Het
Cmya5	T	C	13: 93,090,585	E2665G	probably damaging	Het
Cog4	T	A	8: 110,852,283		probably null	Het
Cubn	A	G	2: 13,348,045	F1961L	probably benign	Het
Cyp4a29	A	T	4: 115,246,999	H88L	probably benign	Het
Dhdh	A	G	7: 45,479,106	L216P	probably damaging	Het
Dpp6	T	C	5: 27,666,511	F544S	probably damaging	Het
Dthd1	C	T	5: 62,888,206	T771I	probably benign	Het
Dusp27	A	T	1: 166,127,106	V25E	probably damaging	Het
Emc10	A	G	7: 44,493,188		probably null	Het
Fam198a	C	T	9: 121,965,718	R313W	probably damaging	Het
Fgg	A	T	3: 83,012,765	T284S	probably benign	Het
Gm3002	T	A	14: 3,824,737	N24K	probably damaging	Het
Gm8674	G	A	13: 49,901,998		noncoding transcript	Het
Gpr63	G	A	4: 25,008,368	W364*	probably null	Het
Hcn4	C	G	9: 58,859,828	P891A	unknown	Het
Hcrtr1	A	T	4: 130,130,999	F365I	possibly damaging	Het
Hmcn2	A	G	2: 31,354,164		probably null	Het
Hoxc5	T	A	15: 103,015,354	L194H	probably damaging	Het
Ifna11	A	G	4: 88,820,050	N31S	probably null	Het
Ikbke	GCC	G	1: 131,275,267		probably null	Het
Kif28	G	T	1: 179,708,442	Q556K	probably damaging	Het
Klhl42	C	T	6: 147,108,004	T447I	possibly damaging	Het
Lrp1b	A	C	2: 41,788,974	D35E	probably damaging	Het
Lsm14b	A	G	2: 180,033,899		probably benign	Het
Map3k1	T	C	13: 111,772,738	E226G	probably damaging	Het
Map3k14	T	A	11: 103,239,531	N187Y	probably benign	Het
Mcm6	A	T	1: 128,335,849	V645E	probably damaging	Het
Mdh1b	G	T	1: 63,719,863	P190Q	probably damaging	Het
Meiob	T	G	17: 24,818,379	L77R	probably damaging	Het
Mkl1	C	A	15: 81,045,275		probably benign	Het
Mrgpra3	A	T	7: 47,589,519	F220I	probably benign	Het
Mtor	T	A	4: 148,491,360	S1324T	possibly damaging	Het
Myot	T	A	18: 44,354,928	D437E	possibly damaging	Het
Ncoa6	G	T	2: 155,421,332	T394K	possibly damaging	Het
Nf1	T	A	11: 79,565,553		probably null	Het
Nup210	T	A	6: 91,036,469	T1190S	possibly damaging	Het
Odf1	T	A	15: 38,226,408	I184N	probably damaging	Het
Olfr178	G	T	16: 58,889,594	Q209K	possibly damaging	Het
Olfr270	T	C	4: 52,970,960	V113A	possibly damaging	Het
Olfr353	A	G	2: 36,890,707	I47T	probably damaging	Het
Olfr959	C	T	9: 39,572,758	C167Y	probably damaging	Het
Padi1	A	G	4: 140,845,590	V21A	probably benign	Het
Pdzrn3	C	T	6: 101,151,590	R705H	probably damaging	Het
Pik3cb	T	C	9: 99,105,632	I18V	probably benign	Het
Pmpca	T	C	2: 26,390,308	S117P	probably damaging	Het
Poteg	T	A	8: 27,494,981		probably benign	Het
Rab30	G	A	7: 92,829,563	R72H	probably damaging	Het
Ramp2	T	A	11: 101,247,557		probably null	Het
Rbks	G	A	5: 31,624,532	T308I	probably damaging	Het
Rnf112	A	G	11: 61,452,926		probably benign	Het
Rnf38	G	A	4: 44,152,460	P3S	probably damaging	Het
Sec16a	A	G	2: 26,412,871	S2344P	probably benign	Het
Slc16a8	C	T	15: 79,252,884	V109M	possibly damaging	Het
Slc28a1	A	T	7: 81,142,009	T308S	possibly damaging	Het
Slc39a3	T	C	10: 81,031,619	T98A	possibly damaging	Het
Smarcc2	T	C	10: 128,483,180	F731L	probably damaging	Het
Smc4	A	G	3: 69,018,239		probably benign	Het
Sparcl1	T	G	5: 104,092,910	D216A	probably damaging	Het
Speg	G	A	1: 75,387,869	R192H	probably damaging	Het
Sspo	T	C	6: 48,464,605	L1892P	probably damaging	Het
Tacc2	A	G	7: 130,623,948	N807D	probably damaging	Het
Teddm1a	A	T	1: 153,892,233	K148*	probably null	Het
Tex15	T	A	8: 33,574,470	D1309E	probably benign	Het
Thbs1	A	T	2: 118,114,778	E277D	probably benign	Het
Ticrr	G	A	7: 79,660,410	R24Q	probably damaging	Het
Tigd4	A	G	3: 84,595,153	E459G	probably benign	Het
Tln2	C	A	9: 67,355,125	A615S	probably damaging	Het
Tmprss5	T	C	9: 49,115,517	V410A	probably damaging	Het
Tnrc6a	G	T	7: 123,189,872	W1638L	probably damaging	Het
Tpr	A	G	1: 150,410,059	D424G	probably damaging	Het
Trim34a	A	T	7: 104,261,064	K358*	probably null	Het
Tssk5	T	A	15: 76,374,656	D10V	possibly damaging	Het
Usp35	A	C	7: 97,313,575	L470R	probably damaging	Het
Usp42	T	C	5: 143,715,364	D968G	possibly damaging	Het
Utrn	A	G	10: 12,455,420	V2924A	probably damaging	Het
Wdtc1	C	A	4: 133,294,343	A627S	probably damaging	Het
Xrra1	A	G	7: 99,906,523	T366A	probably damaging	Het
Zfp712	T	A	13: 67,040,709	K585*	probably null	Het
Zfp97	T	A	17: 17,145,131	N297K	probably damaging	Het
Zfp97	G	T	17: 17,144,676	E146*	probably null	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
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'- GGACACATAACTTCTGGGTACAC -3'
(R):5'- GCGCTGTCAGGAACATCTTG -3'

Sequencing Primer
(F):5'- CAGTGCCTGATGCTGAAGGTC -3'
(R):5'- TCAGGAACATCTTGACAACAGG -3'

Posted On

2016-04-27