Mutagenetix > Incidental Mutation

Incidental Mutation 'R8369:Iqgap2'

646315

Institutional Source

Beutler Lab

Gene Symbol

Iqgap2

Ensembl Gene

ENSMUSG00000021676

Gene Name

IQ motif containing GTPase activating protein 2

Synonyms

4933417J23Rik

MMRRC Submission

067739-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8369 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95627177-95891922 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95661603 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1065 (S1065T)

Ref Sequence

ENSEMBL: ENSMUSP00000067685 (fasta)

Gene Model

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

AlphaFold

Q3UQ44

Predicted Effect

probably damaging
Transcript: ENSMUST00000068603
AA Change: S1065T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: S1065T

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: 99.9%
10x: 99.6%
20x: 98.7%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210011C24Rik	T	A	8: 84,010,998	H94L	unknown	Het
4932438A13Rik	T	A	3: 37,011,603	L9M		Het
4932438H23Rik	G	A	16: 91,055,769	H160Y	probably benign	Het
Abcc4	T	G	14: 118,627,457	I386L	probably benign	Het
Arap2	G	A	5: 62,604,326	R1686*	probably null	Het
Arfgef3	A	T	10: 18,589,729	I2122N	probably benign	Het
Arhgap44	A	T	11: 65,059,854	D119E	probably damaging	Het
Atp2b2	C	T	6: 113,813,786		probably null	Het
Brinp1	A	T	4: 68,798,699	L304Q	possibly damaging	Het
C2cd3	T	C	7: 100,395,258	V349A	probably benign	Het
Ccdc93	T	C	1: 121,477,868	Y347H	probably damaging	Het
Ccdc93	T	G	1: 121,494,397	I534S	probably benign	Het
Cyb5r4	A	T	9: 87,040,433	D165V	probably benign	Het
Cygb	G	A	11: 116,649,283	T180I	probably benign	Het
Cyp4f15	T	A	17: 32,697,965	S285R	probably benign	Het
Daxx	G	T	17: 33,912,616	C433F	probably damaging	Het
Dcaf6	T	C	1: 165,357,474	E483G	probably damaging	Het
Dennd1a	T	A	2: 38,048,754	I115F	probably damaging	Het
Dnajc5b	A	G	3: 19,610,632	D198G	probably damaging	Het
Ercc1	T	A	7: 19,354,452	C243*	probably null	Het
Ermard	T	C	17: 15,053,298	F382L	probably damaging	Het
Fer1l4	C	A	2: 156,019,760	G1879V	probably benign	Het
Focad	T	A	4: 88,232,668	H516Q	unknown	Het
Gcsam	T	A	16: 45,616,006	W51R	probably damaging	Het
Ikbkb	A	G	8: 22,691,081	V122A	probably benign	Het
Kif16b	G	A	2: 142,711,857	A1007V	probably benign	Het
Krt24	A	T	11: 99,282,708	C262*	probably null	Het
Lrat	T	C	3: 82,903,558	E52G	probably damaging	Het
N4bp3	A	G	11: 51,644,426	L312P	probably damaging	Het
Naxe	T	C	3: 88,056,687	T246A	probably benign	Het
Pcolce2	A	T	9: 95,637,794	M1L	probably benign	Het
Slc7a6	G	A	8: 106,193,164	A270T	probably damaging	Het
Sord	T	A	2: 122,246,495	I27K	probably benign	Het
Srek1ip1	A	G	13: 104,834,290	E83G	probably benign	Het
Srgap3	A	C	6: 112,722,818	N1090K	probably benign	Het
Sult2a6	A	C	7: 14,253,402		probably null	Het
Tacc2	T	A	7: 130,622,158	I191N	probably damaging	Het
Thoc3	A	G	13: 54,467,895	S119P	probably damaging	Het
Tirap	A	G	9: 35,188,756	S211P	probably benign	Het
Tle4	T	C	19: 14,452,512	T632A	probably benign	Het
Tnfaip8l2	T	A	3: 95,140,175	I126F	probably benign	Het
Txnrd1	A	G	10: 82,874,646	T114A	probably benign	Het
Vmn2r14	A	G	5: 109,221,476	L77P	probably damaging	Het
Wwc1	G	A	11: 35,867,371	T716I	probably damaging	Het
Yod1	A	G	1: 130,717,623	K47R	probably benign	Het
Zfhx2	A	T	14: 55,066,744	M1261K	probably benign	Het
Zfhx3	T	C	8: 108,856,816	I1105T	possibly damaging	Het
Zfp9	C	A	6: 118,464,392	K436N	probably damaging	Het
Zfp979	T	C	4: 147,613,091	H387R	possibly damaging	Het

Other mutations in Iqgap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00799:Iqgap2	APN	13	95,657,944 (GRCm38)	splice site	probably benign
IGL01968:Iqgap2	APN	13	95,635,582 (GRCm38)	missense	possibly damaging	0.80
IGL02049:Iqgap2	APN	13	95,675,405 (GRCm38)	splice site	probably benign
IGL02195:Iqgap2	APN	13	95,661,734 (GRCm38)	splice site	probably benign
IGL02387:Iqgap2	APN	13	95,689,701 (GRCm38)	missense	probably benign	0.00
IGL02634:Iqgap2	APN	13	95,628,114 (GRCm38)	missense	probably damaging	1.00
IGL02666:Iqgap2	APN	13	95,628,056 (GRCm38)	missense	probably damaging	1.00
IGL02685:Iqgap2	APN	13	95,671,404 (GRCm38)	missense	probably damaging	1.00
IGL02927:Iqgap2	APN	13	95,724,676 (GRCm38)	missense	possibly damaging	0.62
IGL02943:Iqgap2	APN	13	95,661,735 (GRCm38)	splice site	probably benign
IGL03167:Iqgap2	APN	13	95,684,898 (GRCm38)	missense	probably benign	0.34
IGL03169:Iqgap2	APN	13	95,731,277 (GRCm38)	splice site	probably null
IGL03293:Iqgap2	APN	13	95,731,434 (GRCm38)	missense	probably damaging	1.00
G1Funyon:Iqgap2	UTSW	13	95,682,151 (GRCm38)	critical splice donor site	probably null
R0257:Iqgap2	UTSW	13	95,724,544 (GRCm38)	critical splice donor site	probably null
R0335:Iqgap2	UTSW	13	95,635,633 (GRCm38)	missense	probably damaging	0.99
R0360:Iqgap2	UTSW	13	95,731,275 (GRCm38)	splice site	probably benign
R0364:Iqgap2	UTSW	13	95,731,275 (GRCm38)	splice site	probably benign
R0419:Iqgap2	UTSW	13	95,689,699 (GRCm38)	critical splice donor site	probably null
R1229:Iqgap2	UTSW	13	95,632,165 (GRCm38)	missense	probably benign	0.32
R1290:Iqgap2	UTSW	13	95,668,513 (GRCm38)	missense	probably damaging	1.00
R1397:Iqgap2	UTSW	13	95,632,165 (GRCm38)	missense	probably benign	0.32
R1498:Iqgap2	UTSW	13	95,646,805 (GRCm38)	missense	probably benign
R1513:Iqgap2	UTSW	13	95,630,010 (GRCm38)	missense	probably damaging	1.00
R1630:Iqgap2	UTSW	13	95,689,785 (GRCm38)	missense	probably benign
R2088:Iqgap2	UTSW	13	95,891,663 (GRCm38)	critical splice donor site	probably null
R2928:Iqgap2	UTSW	13	95,682,236 (GRCm38)	missense	probably benign
R3026:Iqgap2	UTSW	13	95,673,056 (GRCm38)	critical splice acceptor site	probably null
R3720:Iqgap2	UTSW	13	95,668,528 (GRCm38)	splice site	probably null
R3846:Iqgap2	UTSW	13	95,673,678 (GRCm38)	splice site	probably benign
R4056:Iqgap2	UTSW	13	95,750,033 (GRCm38)	missense	probably damaging	1.00
R4077:Iqgap2	UTSW	13	95,657,867 (GRCm38)	missense	probably damaging	1.00
R4353:Iqgap2	UTSW	13	95,671,396 (GRCm38)	missense	probably damaging	1.00
R4517:Iqgap2	UTSW	13	95,664,061 (GRCm38)	critical splice donor site	probably null
R4628:Iqgap2	UTSW	13	95,763,329 (GRCm38)	missense	probably benign	0.17
R4686:Iqgap2	UTSW	13	95,721,609 (GRCm38)	missense	probably damaging	0.98
R4724:Iqgap2	UTSW	13	95,635,497 (GRCm38)	missense	possibly damaging	0.73
R4826:Iqgap2	UTSW	13	95,763,275 (GRCm38)	missense	probably damaging	1.00
R4847:Iqgap2	UTSW	13	95,673,743 (GRCm38)	missense	probably benign	0.19
R4967:Iqgap2	UTSW	13	95,630,006 (GRCm38)	missense	probably benign	0.00
R4973:Iqgap2	UTSW	13	95,657,797 (GRCm38)	splice site	probably null
R5010:Iqgap2	UTSW	13	95,673,743 (GRCm38)	missense	probably benign	0.19
R5086:Iqgap2	UTSW	13	95,635,580 (GRCm38)	missense	probably benign	0.01
R5496:Iqgap2	UTSW	13	95,630,053 (GRCm38)	missense	probably damaging	1.00
R5512:Iqgap2	UTSW	13	95,675,376 (GRCm38)	nonsense	probably null
R5629:Iqgap2	UTSW	13	95,632,174 (GRCm38)	missense	probably damaging	1.00
R5824:Iqgap2	UTSW	13	95,675,372 (GRCm38)	missense	probably damaging	0.99
R5830:Iqgap2	UTSW	13	95,675,372 (GRCm38)	missense	probably damaging	0.99
R5831:Iqgap2	UTSW	13	95,675,372 (GRCm38)	missense	probably damaging	0.99
R5832:Iqgap2	UTSW	13	95,675,372 (GRCm38)	missense	probably damaging	0.99
R5833:Iqgap2	UTSW	13	95,675,372 (GRCm38)	missense	probably damaging	0.99
R5834:Iqgap2	UTSW	13	95,675,372 (GRCm38)	missense	probably damaging	0.99
R5852:Iqgap2	UTSW	13	95,675,372 (GRCm38)	missense	probably damaging	0.99
R5888:Iqgap2	UTSW	13	95,635,610 (GRCm38)	missense	possibly damaging	0.89
R5889:Iqgap2	UTSW	13	95,632,042 (GRCm38)	missense	probably benign	0.00
R6093:Iqgap2	UTSW	13	95,628,963 (GRCm38)	missense	probably damaging	0.99
R6141:Iqgap2	UTSW	13	95,721,686 (GRCm38)	splice site	probably null
R6404:Iqgap2	UTSW	13	95,729,477 (GRCm38)	missense	probably benign	0.28
R6434:Iqgap2	UTSW	13	95,682,933 (GRCm38)	missense	possibly damaging	0.85
R6648:Iqgap2	UTSW	13	95,682,211 (GRCm38)	missense	probably benign	0.27
R6658:Iqgap2	UTSW	13	95,660,332 (GRCm38)	missense	probably damaging	1.00
R6903:Iqgap2	UTSW	13	95,661,057 (GRCm38)	missense	probably damaging	1.00
R7223:Iqgap2	UTSW	13	95,628,972 (GRCm38)	missense	probably damaging	1.00
R7327:Iqgap2	UTSW	13	95,635,655 (GRCm38)	missense	probably benign	0.00
R7371:Iqgap2	UTSW	13	95,700,338 (GRCm38)	splice site	probably null
R7378:Iqgap2	UTSW	13	95,732,890 (GRCm38)	critical splice donor site	probably null
R7441:Iqgap2	UTSW	13	95,628,076 (GRCm38)	missense	probably benign	0.23
R7575:Iqgap2	UTSW	13	95,661,623 (GRCm38)	missense	probably damaging	0.99
R7671:Iqgap2	UTSW	13	95,628,119 (GRCm38)	missense	probably damaging	0.98
R7713:Iqgap2	UTSW	13	95,731,444 (GRCm38)	missense	probably benign	0.01
R7806:Iqgap2	UTSW	13	95,682,257 (GRCm38)	missense	probably benign	0.00
R7893:Iqgap2	UTSW	13	95,689,709 (GRCm38)	missense	probably damaging	0.96
R8052:Iqgap2	UTSW	13	95,657,879 (GRCm38)	missense	probably damaging	0.96
R8121:Iqgap2	UTSW	13	95,724,568 (GRCm38)	missense	probably benign	0.00
R8261:Iqgap2	UTSW	13	95,635,570 (GRCm38)	missense	probably damaging	1.00
R8301:Iqgap2	UTSW	13	95,682,151 (GRCm38)	critical splice donor site	probably null
R8485:Iqgap2	UTSW	13	95,660,151 (GRCm38)	missense	probably damaging	0.99
R8709:Iqgap2	UTSW	13	95,660,205 (GRCm38)	missense	probably damaging	0.99
R8710:Iqgap2	UTSW	13	95,660,248 (GRCm38)	missense	probably benign	0.24
R8737:Iqgap2	UTSW	13	95,665,750 (GRCm38)	missense	probably damaging	1.00
R8845:Iqgap2	UTSW	13	95,657,884 (GRCm38)	missense	possibly damaging	0.60
R8902:Iqgap2	UTSW	13	95,682,203 (GRCm38)	missense	probably benign	0.16
R8957:Iqgap2	UTSW	13	95,635,646 (GRCm38)	missense	probably damaging	1.00
R9153:Iqgap2	UTSW	13	95,708,039 (GRCm38)	missense	probably benign
R9259:Iqgap2	UTSW	13	95,630,053 (GRCm38)	missense	probably damaging	1.00
R9290:Iqgap2	UTSW	13	95,750,015 (GRCm38)	missense	probably damaging	1.00
R9414:Iqgap2	UTSW	13	95,646,841 (GRCm38)	missense
R9432:Iqgap2	UTSW	13	95,637,753 (GRCm38)	missense	probably benign
R9747:Iqgap2	UTSW	13	95,684,997 (GRCm38)	missense	probably damaging	1.00
X0066:Iqgap2	UTSW	13	95,671,383 (GRCm38)	missense	probably damaging	0.98
Z1176:Iqgap2	UTSW	13	95,731,443 (GRCm38)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CAGGCCACCTAGCATTTCTG -3'
(R):5'- TGTACCTCGGCAACTGTTC -3'

Sequencing Primer
(F):5'- ATAGGGTCTTGCTATATAGTCCAGTC -3'
(R):5'- GTACCTCGGCAACTGTTCATTTG -3'

Posted On

2020-09-02