Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02666:Iqgap2'

302714

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Iqgap2

Ensembl Gene

ENSMUSG00000021676

Gene Name

IQ motif containing GTPase activating protein 2

Synonyms

4933417J23Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02666

Quality Score

Status

Chromosome

Chromosomal Location

95627177-95891922 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95628056 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1560 (N1560S)

Ref Sequence

ENSEMBL: ENSMUSP00000067685 (fasta)

Gene Model

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

AlphaFold

Q3UQ44

Predicted Effect

probably damaging
Transcript: ENSMUST00000068603
AA Change: N1560S

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

SMART Domains

Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: N1560S

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230109A22Rik	T	C	15: 25,138,858		noncoding transcript	Het
Abca15	G	A	7: 120,335,208	V136M	probably damaging	Het
Abhd3	A	G	18: 10,645,148	I382T	probably benign	Het
Cux1	C	A	5: 136,275,315	E1336*	probably null	Het
Cyb5r3	T	C	15: 83,160,353	I155V	probably damaging	Het
Ddx24	T	C	12: 103,424,055	T226A	possibly damaging	Het
Diexf	G	A	1: 193,107,596	Q752*	probably null	Het
Dld	T	C	12: 31,332,409	N465S	probably null	Het
Dnmbp	A	G	19: 43,854,127		probably benign	Het
Dock9	T	C	14: 121,580,699	H1580R	probably benign	Het
Drd3	C	A	16: 43,816,956		probably benign	Het
Gabrb2	G	T	11: 42,529,495		probably null	Het
Gbp9	T	C	5: 105,094,275		probably null	Het
Inhba	A	T	13: 16,027,079	I409F	possibly damaging	Het
Itsn1	A	G	16: 91,820,718		probably benign	Het
Kat6b	T	C	14: 21,628,870	F434L	probably damaging	Het
Klra1	A	G	6: 130,364,315	C232R	probably damaging	Het
Krt18	T	A	15: 102,029,867	I175N	probably damaging	Het
Lck	A	G	4: 129,556,419	V178A	probably damaging	Het
Mroh4	C	A	15: 74,609,775	G737V	probably benign	Het
Mug2	A	C	6: 122,081,326	L1282F	probably damaging	Het
Myo9a	A	G	9: 59,924,904	N2572S	probably benign	Het
Nup88	G	T	11: 70,943,869		probably benign	Het
Nxph3	G	T	11: 95,511,008	H193Q	possibly damaging	Het
Olfr1447	G	T	19: 12,900,857	H308N	probably benign	Het
Orm2	A	G	4: 63,365,733	T198A	possibly damaging	Het
Pom121	T	C	5: 135,386,832	I397V	unknown	Het
Prex1	C	A	2: 166,572,989	E1313D	probably benign	Het
Prkg2	T	A	5: 98,997,519		probably benign	Het
Prl2a1	A	T	13: 27,806,327	K86N	possibly damaging	Het
Ptpro	G	A	6: 137,378,059	S188N	probably damaging	Het
Ptprz1	A	T	6: 23,001,210	I1100F	probably benign	Het
Ryr1	C	A	7: 29,019,763	M4406I	unknown	Het
Sdf4	T	A	4: 156,008,824	Y204*	probably null	Het
Serinc1	A	T	10: 57,523,993		probably null	Het
Slc39a5	C	T	10: 128,398,455	R193H	probably damaging	Het
Smad9	A	G	3: 54,782,467	K36R	probably damaging	Het
Spam1	T	A	6: 24,796,124	L25I	possibly damaging	Het
Stab2	A	T	10: 86,850,902	S809R	possibly damaging	Het
Szt2	G	A	4: 118,374,055	R35C	probably damaging	Het
Tcaf2	C	A	6: 42,629,124		probably benign	Het
Tfap2d	A	C	1: 19,104,755	D144A	probably benign	Het
Tmprss11d	A	T	5: 86,331,193	V117D	probably damaging	Het
Tnxb	A	G	17: 34,684,939	D1141G	probably benign	Het
Traf6	A	T	2: 101,697,167	T421S	possibly damaging	Het
Txndc16	G	A	14: 45,211,150		probably benign	Het
Vmn1r73	C	A	7: 11,756,938	P228T	probably damaging	Het
Vmn2r4	A	G	3: 64,389,012	I784T	probably benign	Het
Zfp420	A	G	7: 29,874,370	D5G	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
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
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
X0066:Iqgap2	UTSW	13	95671383	missense	probably damaging	0.98
Z1176:Iqgap2	UTSW	13	95731443	missense	possibly damaging	0.92

Posted On

2015-04-16