Mutagenetix > Incidental Mutation

Incidental Mutation 'R8485:Iqgap2'

657698

Institutional Source

Beutler Lab

Gene Symbol

Iqgap2

Ensembl Gene

ENSMUSG00000021676

Gene Name

IQ motif containing GTPase activating protein 2

Synonyms

4933417J23Rik

MMRRC Submission

067928-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8485 (G1)

Quality Score

168.009

Status

Validated

Chromosome

Chromosomal Location

95627177-95891922 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95660151 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1165 (N1165S)

Ref Sequence

ENSEMBL: ENSMUSP00000067685 (fasta)

Gene Model

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

AlphaFold

Q3UQ44

Predicted Effect

probably damaging
Transcript: ENSMUST00000068603
AA Change: N1165S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: N1165S

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (59/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	A	G	3: 97,158,986		probably benign	Het
Adamts16	T	C	13: 70,738,675	T999A	possibly damaging	Het
Adgrb1	A	C	15: 74,548,304	T829P	probably damaging	Het
Ankrd12	C	T	17: 65,983,716	S1574N	probably benign	Het
Ankrd2	G	A	19: 42,041,945		probably null	Het
Ano3	T	A	2: 110,667,855		probably null	Het
Arhgap18	T	C	10: 26,846,108	I25T	probably benign	Het
Armc3	T	C	2: 19,293,134	F572S	probably damaging	Het
Aspdh	G	T	7: 44,467,669	G165W	probably damaging	Het
Btnl10	G	T	11: 58,920,316	R155L	possibly damaging	Het
Cacng7	A	G	7: 3,366,025	E168G	probably benign	Het
Cadps	G	A	14: 12,439,872	T1215M	probably damaging	Het
Cbfa2t3	C	A	8: 122,630,778	G598C	probably damaging	Het
Cdh15	T	C	8: 122,857,366	S69P	probably damaging	Het
Cwc27	G	T	13: 104,804,264	P196T	probably benign	Het
Cwc27	C	A	13: 104,804,268	L194F	possibly damaging	Het
Dlec1	T	G	9: 119,128,591	V881G	probably benign	Het
Dnah7c	A	C	1: 46,680,792	D2801A	probably benign	Het
Efhc1	T	C	1: 20,960,236	M131T	possibly damaging	Het
Ercc2	G	A	7: 19,388,240	V386I	possibly damaging	Het
Exoc4	T	A	6: 33,921,501	I885N	probably damaging	Het
Fbxl22	C	T	9: 66,514,567		probably null	Het
Flii	G	T	11: 60,716,237	A971E	probably benign	Het
Fnip2	T	A	3: 79,481,537	E599V	probably benign	Het
Glb1l2	G	A	9: 26,767,740	L453F	probably benign	Het
Gm49368	C	T	7: 128,112,439	P624L	probably damaging	Het
Gpa33	T	A	1: 166,164,692	D268E	probably benign	Het
Gpi1	A	T	7: 34,219,252		probably null	Het
Kctd2	G	T	11: 115,429,608		probably benign	Het
L1td1	C	T	4: 98,737,674	A702V	probably damaging	Het
Lrmp	A	T	6: 145,171,674	N379I	probably damaging	Het
Lrp1	G	A	10: 127,558,650	R2565C	probably damaging	Het
Mycbpap	A	G	11: 94,511,708	L267P	probably damaging	Het
Mycbpap	T	C	11: 94,514,533	R57G	probably benign	Het
Myo1b	A	C	1: 51,779,601	L505R	probably damaging	Het
Nfatc2	A	C	2: 168,590,092	F34V	probably damaging	Het
Nphs1	A	G	7: 30,466,173	N655S	probably damaging	Het
Nsd2	A	T	5: 33,882,845	I909F	probably damaging	Het
Olfr1130	A	T	2: 87,608,257	M290L	probably benign	Het
Olfr884	T	A	9: 38,047,957	M245K	probably benign	Het
Pak2	G	A	16: 32,052,265	A33V	probably benign	Het
Phb	A	G	11: 95,675,229	D113G	probably benign	Het
Pkhd1	T	A	1: 20,523,033	I1619F	probably damaging	Het
Pkhd1l1	A	G	15: 44,560,400	I3113V	probably damaging	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Prrc2b	T	A	2: 32,212,093	M726K	possibly damaging	Het
Rai14	A	G	15: 10,575,036	L612P	probably damaging	Het
Rapgef1	T	C	2: 29,710,174	S598P	probably damaging	Het
Rdm1	G	A	11: 101,627,990	V8I	probably benign	Het
Rrbp1	A	G	2: 143,955,013	F1148L	probably benign	Het
Slc12a2	T	C	18: 57,941,146		probably null	Het
Slc7a8	T	A	14: 54,724,807	T457S	probably benign	Het
Stk32a	T	A	18: 43,243,010	M48K	possibly damaging	Het
Svil	T	C	18: 5,064,566	S642P	probably benign	Het
Taok3	G	A	5: 117,251,077	V516M	possibly damaging	Het
Ugdh	T	C	5: 65,427,559	I7V	possibly damaging	Het
Zc3h11a	T	A	1: 133,625,895	S504C	possibly damaging	Het
Zfp512	C	T	5: 31,480,057	R497W	probably damaging	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
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
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'- GGCTGGGAACATCTTGTCTG -3'
(R):5'- TGTGCAGATTGTTGGAAATCTC -3'

Sequencing Primer
(F):5'- GTTCCTTTCCTTCATTATCCAGGG -3'
(R):5'- GTTGGAAATCTCCTATACTACCGG -3'

Posted On

2021-01-18