Mutagenetix > Incidental Mutation

Incidental Mutation 'R0257:Iqgap2'

34802

Institutional Source

Beutler Lab

Gene Symbol

Iqgap2

Ensembl Gene

ENSMUSG00000021676

Gene Name

IQ motif containing GTPase activating protein 2

Synonyms

4933417J23Rik

MMRRC Submission

038488-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0257 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

95763685-96028788 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 95861052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000067685 (fasta)

Gene Model

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

AlphaFold

Q3UQ44

Predicted Effect

probably null
Transcript: ENSMUST00000068603

SMART Domains

Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676

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

0.9491

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	A	11: 84,401,107 (GRCm39)	E171D	probably benign	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adgre5	T	A	8: 84,458,624 (GRCm39)	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,717,790 (GRCm39)	M256L	probably benign	Het
Alk	A	T	17: 72,910,490 (GRCm39)	L72Q	probably damaging	Het
Ano2	C	A	6: 125,857,676 (GRCm39)	A505E	probably benign	Het
Bcas3	A	G	11: 85,712,865 (GRCm39)	K908E	probably benign	Het
C3ar1	A	G	6: 122,827,746 (GRCm39)	V157A	probably benign	Het
Car2	C	G	3: 14,965,037 (GRCm39)	H224D	probably benign	Het
Cfh	T	C	1: 140,071,773 (GRCm39)	D287G	probably benign	Het
Disp3	G	T	4: 148,335,211 (GRCm39)	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,661,671 (GRCm39)		probably benign	Het
Dmbt1	A	G	7: 130,708,123 (GRCm39)	E1281G	probably damaging	Het
Dmxl1	T	A	18: 50,088,870 (GRCm39)		probably benign	Het
Dtx3	T	C	10: 127,028,761 (GRCm39)	D159G	probably benign	Het
Ets2	T	A	16: 95,513,245 (GRCm39)	C140*	probably null	Het
Fbf1	T	C	11: 116,045,917 (GRCm39)	I226V	probably benign	Het
Fgd6	T	A	10: 93,879,777 (GRCm39)	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898 (GRCm39)	T179A	probably benign	Het
Galnt10	T	C	11: 57,671,904 (GRCm39)	M398T	probably damaging	Het
Grk5	G	T	19: 61,065,068 (GRCm39)		probably benign	Het
Gse1	A	G	8: 121,299,073 (GRCm39)		probably benign	Het
Hmcn2	T	C	2: 31,259,176 (GRCm39)		probably benign	Het
Lama4	T	C	10: 38,970,880 (GRCm39)		probably benign	Het
Luzp2	A	G	7: 54,899,194 (GRCm39)	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534 (GRCm39)	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,705,649 (GRCm39)		probably benign	Het
Msh5	G	C	17: 35,251,840 (GRCm39)	R407G	probably damaging	Het
Myo1c	A	T	11: 75,556,342 (GRCm39)		probably null	Het
Nek5	T	C	8: 22,613,688 (GRCm39)		probably benign	Het
Nrxn2	A	G	19: 6,540,728 (GRCm39)	I894V	possibly damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Pde4a	C	T	9: 21,103,717 (GRCm39)	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,150,930 (GRCm39)	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,660,080 (GRCm39)	S139N	probably benign	Het
Prob1	T	C	18: 35,786,092 (GRCm39)	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,495,382 (GRCm39)	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,589,842 (GRCm39)	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,441,664 (GRCm39)	M199L	probably benign	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,682,761 (GRCm39)		probably benign	Het
Sned1	A	T	1: 93,192,819 (GRCm39)	S369C	possibly damaging	Het
St18	T	A	1: 6,890,186 (GRCm39)	F539L	probably benign	Het
Stam2	C	T	2: 52,584,794 (GRCm39)	G500D	possibly damaging	Het
Stx16	G	A	2: 173,938,754 (GRCm39)	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610 (GRCm39)	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,765,904 (GRCm39)	S512N	probably benign	Het
Tiam2	T	C	17: 3,501,088 (GRCm39)	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343 (GRCm39)	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,778,556 (GRCm39)	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,741,045 (GRCm39)	S1264L	probably benign	Het
Ttn	T	A	2: 76,640,775 (GRCm39)	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,249,889 (GRCm39)	T794I	probably damaging	Het
Vmn2r52	T	A	7: 9,904,982 (GRCm39)	R286*	probably null	Het
Vps53	A	T	11: 76,068,211 (GRCm39)		probably benign	Het
Wdr18	A	G	10: 79,796,953 (GRCm39)		probably benign	Het
Wdr31	A	G	4: 62,378,755 (GRCm39)		probably null	Het
Zfp458	T	A	13: 67,407,706 (GRCm39)	K47*	probably null	Het
Zfp983	A	G	17: 21,880,356 (GRCm39)	T95A	probably benign	Het

Other mutations in Iqgap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00799:Iqgap2	APN	13	95,794,452 (GRCm39)	splice site	probably benign
IGL01968:Iqgap2	APN	13	95,772,090 (GRCm39)	missense	possibly damaging	0.80
IGL02049:Iqgap2	APN	13	95,811,913 (GRCm39)	splice site	probably benign
IGL02195:Iqgap2	APN	13	95,798,242 (GRCm39)	splice site	probably benign
IGL02387:Iqgap2	APN	13	95,826,209 (GRCm39)	missense	probably benign	0.00
IGL02634:Iqgap2	APN	13	95,764,622 (GRCm39)	missense	probably damaging	1.00
IGL02666:Iqgap2	APN	13	95,764,564 (GRCm39)	missense	probably damaging	1.00
IGL02685:Iqgap2	APN	13	95,807,912 (GRCm39)	missense	probably damaging	1.00
IGL02927:Iqgap2	APN	13	95,861,184 (GRCm39)	missense	possibly damaging	0.62
IGL02943:Iqgap2	APN	13	95,798,243 (GRCm39)	splice site	probably benign
IGL03167:Iqgap2	APN	13	95,821,406 (GRCm39)	missense	probably benign	0.34
IGL03169:Iqgap2	APN	13	95,867,785 (GRCm39)	splice site	probably null
IGL03293:Iqgap2	APN	13	95,867,942 (GRCm39)	missense	probably damaging	1.00
G1Funyon:Iqgap2	UTSW	13	95,818,659 (GRCm39)	critical splice donor site	probably null
R0335:Iqgap2	UTSW	13	95,772,141 (GRCm39)	missense	probably damaging	0.99
R0360:Iqgap2	UTSW	13	95,867,783 (GRCm39)	splice site	probably benign
R0364:Iqgap2	UTSW	13	95,867,783 (GRCm39)	splice site	probably benign
R0419:Iqgap2	UTSW	13	95,826,207 (GRCm39)	critical splice donor site	probably null
R1229:Iqgap2	UTSW	13	95,768,673 (GRCm39)	missense	probably benign	0.32
R1290:Iqgap2	UTSW	13	95,805,021 (GRCm39)	missense	probably damaging	1.00
R1397:Iqgap2	UTSW	13	95,768,673 (GRCm39)	missense	probably benign	0.32
R1498:Iqgap2	UTSW	13	95,783,313 (GRCm39)	missense	probably benign
R1513:Iqgap2	UTSW	13	95,766,518 (GRCm39)	missense	probably damaging	1.00
R1630:Iqgap2	UTSW	13	95,826,293 (GRCm39)	missense	probably benign
R2088:Iqgap2	UTSW	13	96,028,171 (GRCm39)	critical splice donor site	probably null
R2928:Iqgap2	UTSW	13	95,818,744 (GRCm39)	missense	probably benign
R3026:Iqgap2	UTSW	13	95,809,564 (GRCm39)	critical splice acceptor site	probably null
R3720:Iqgap2	UTSW	13	95,805,036 (GRCm39)	splice site	probably null
R3846:Iqgap2	UTSW	13	95,810,186 (GRCm39)	splice site	probably benign
R4056:Iqgap2	UTSW	13	95,886,541 (GRCm39)	missense	probably damaging	1.00
R4077:Iqgap2	UTSW	13	95,794,375 (GRCm39)	missense	probably damaging	1.00
R4353:Iqgap2	UTSW	13	95,807,904 (GRCm39)	missense	probably damaging	1.00
R4517:Iqgap2	UTSW	13	95,800,569 (GRCm39)	critical splice donor site	probably null
R4628:Iqgap2	UTSW	13	95,899,837 (GRCm39)	missense	probably benign	0.17
R4686:Iqgap2	UTSW	13	95,858,117 (GRCm39)	missense	probably damaging	0.98
R4724:Iqgap2	UTSW	13	95,772,005 (GRCm39)	missense	possibly damaging	0.73
R4826:Iqgap2	UTSW	13	95,899,783 (GRCm39)	missense	probably damaging	1.00
R4847:Iqgap2	UTSW	13	95,810,251 (GRCm39)	missense	probably benign	0.19
R4967:Iqgap2	UTSW	13	95,766,514 (GRCm39)	missense	probably benign	0.00
R4973:Iqgap2	UTSW	13	95,794,305 (GRCm39)	splice site	probably null
R5010:Iqgap2	UTSW	13	95,810,251 (GRCm39)	missense	probably benign	0.19
R5086:Iqgap2	UTSW	13	95,772,088 (GRCm39)	missense	probably benign	0.01
R5496:Iqgap2	UTSW	13	95,766,561 (GRCm39)	missense	probably damaging	1.00
R5512:Iqgap2	UTSW	13	95,811,884 (GRCm39)	nonsense	probably null
R5629:Iqgap2	UTSW	13	95,768,682 (GRCm39)	missense	probably damaging	1.00
R5824:Iqgap2	UTSW	13	95,811,880 (GRCm39)	missense	probably damaging	0.99
R5830:Iqgap2	UTSW	13	95,811,880 (GRCm39)	missense	probably damaging	0.99
R5831:Iqgap2	UTSW	13	95,811,880 (GRCm39)	missense	probably damaging	0.99
R5832:Iqgap2	UTSW	13	95,811,880 (GRCm39)	missense	probably damaging	0.99
R5833:Iqgap2	UTSW	13	95,811,880 (GRCm39)	missense	probably damaging	0.99
R5834:Iqgap2	UTSW	13	95,811,880 (GRCm39)	missense	probably damaging	0.99
R5852:Iqgap2	UTSW	13	95,811,880 (GRCm39)	missense	probably damaging	0.99
R5888:Iqgap2	UTSW	13	95,772,118 (GRCm39)	missense	possibly damaging	0.89
R5889:Iqgap2	UTSW	13	95,768,550 (GRCm39)	missense	probably benign	0.00
R6093:Iqgap2	UTSW	13	95,765,471 (GRCm39)	missense	probably damaging	0.99
R6141:Iqgap2	UTSW	13	95,858,194 (GRCm39)	splice site	probably null
R6404:Iqgap2	UTSW	13	95,865,985 (GRCm39)	missense	probably benign	0.28
R6434:Iqgap2	UTSW	13	95,819,441 (GRCm39)	missense	possibly damaging	0.85
R6648:Iqgap2	UTSW	13	95,818,719 (GRCm39)	missense	probably benign	0.27
R6658:Iqgap2	UTSW	13	95,796,840 (GRCm39)	missense	probably damaging	1.00
R6903:Iqgap2	UTSW	13	95,797,565 (GRCm39)	missense	probably damaging	1.00
R7223:Iqgap2	UTSW	13	95,765,480 (GRCm39)	missense	probably damaging	1.00
R7327:Iqgap2	UTSW	13	95,772,163 (GRCm39)	missense	probably benign	0.00
R7371:Iqgap2	UTSW	13	95,836,846 (GRCm39)	splice site	probably null
R7378:Iqgap2	UTSW	13	95,869,398 (GRCm39)	critical splice donor site	probably null
R7441:Iqgap2	UTSW	13	95,764,584 (GRCm39)	missense	probably benign	0.23
R7575:Iqgap2	UTSW	13	95,798,131 (GRCm39)	missense	probably damaging	0.99
R7671:Iqgap2	UTSW	13	95,764,627 (GRCm39)	missense	probably damaging	0.98
R7713:Iqgap2	UTSW	13	95,867,952 (GRCm39)	missense	probably benign	0.01
R7806:Iqgap2	UTSW	13	95,818,765 (GRCm39)	missense	probably benign	0.00
R7893:Iqgap2	UTSW	13	95,826,217 (GRCm39)	missense	probably damaging	0.96
R8052:Iqgap2	UTSW	13	95,794,387 (GRCm39)	missense	probably damaging	0.96
R8121:Iqgap2	UTSW	13	95,861,076 (GRCm39)	missense	probably benign	0.00
R8261:Iqgap2	UTSW	13	95,772,078 (GRCm39)	missense	probably damaging	1.00
R8301:Iqgap2	UTSW	13	95,818,659 (GRCm39)	critical splice donor site	probably null
R8369:Iqgap2	UTSW	13	95,798,111 (GRCm39)	missense	probably damaging	1.00
R8485:Iqgap2	UTSW	13	95,796,659 (GRCm39)	missense	probably damaging	0.99
R8709:Iqgap2	UTSW	13	95,796,713 (GRCm39)	missense	probably damaging	0.99
R8710:Iqgap2	UTSW	13	95,796,756 (GRCm39)	missense	probably benign	0.24
R8737:Iqgap2	UTSW	13	95,802,258 (GRCm39)	missense	probably damaging	1.00
R8845:Iqgap2	UTSW	13	95,794,392 (GRCm39)	missense	possibly damaging	0.60
R8902:Iqgap2	UTSW	13	95,818,711 (GRCm39)	missense	probably benign	0.16
R8957:Iqgap2	UTSW	13	95,772,154 (GRCm39)	missense	probably damaging	1.00
R9153:Iqgap2	UTSW	13	95,844,547 (GRCm39)	missense	probably benign
R9259:Iqgap2	UTSW	13	95,766,561 (GRCm39)	missense	probably damaging	1.00
R9290:Iqgap2	UTSW	13	95,886,523 (GRCm39)	missense	probably damaging	1.00
R9414:Iqgap2	UTSW	13	95,783,349 (GRCm39)	missense
R9432:Iqgap2	UTSW	13	95,774,261 (GRCm39)	missense	probably benign
R9747:Iqgap2	UTSW	13	95,821,505 (GRCm39)	missense	probably damaging	1.00
X0066:Iqgap2	UTSW	13	95,807,891 (GRCm39)	missense	probably damaging	0.98
Z1176:Iqgap2	UTSW	13	95,867,951 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GAAACTAAACCCTGGGACTGGCAC -3'
(R):5'- ATTGACGGCCTTGCATCAGGAC -3'

Sequencing Primer
(F):5'- TGGCACCAGGGACCATTG -3'
(R):5'- TTGCATCAGGACCTTGGGAAG -3'

Posted On

2013-05-09