Mutagenetix > Incidental Mutation

Incidental Mutation 'R5010:Iqgap2'

390454

Institutional Source

Beutler Lab

Gene Symbol

Iqgap2

Ensembl Gene

ENSMUSG00000021676

Gene Name

IQ motif containing GTPase activating protein 2

Synonyms

4933417J23Rik

MMRRC Submission

042601-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5010 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95763685-96028788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95810251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 731 (F731S)

Ref Sequence

ENSEMBL: ENSMUSP00000067685 (fasta)

Gene Model

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

AlphaFold

Q3UQ44

Predicted Effect

probably benign
Transcript: ENSMUST00000068603
AA Change: F731S

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: F731S

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

0.4041

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

98% (65/66)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	C	T	11: 58,313,630 (GRCm39)	A86V	possibly damaging	Het
9430097D07Rik	A	G	2: 32,464,440 (GRCm39)		probably benign	Het
Actr5	T	A	2: 158,477,283 (GRCm39)	D411E	probably benign	Het
Ang5	A	G	14: 44,200,302 (GRCm39)	D122G	probably benign	Het
Atg9a	A	T	1: 75,162,704 (GRCm39)		probably null	Het
Cracd	G	C	5: 76,805,681 (GRCm39)		probably benign	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Ddx11	G	A	17: 66,454,717 (GRCm39)	V642M	possibly damaging	Het
Dis3l2	G	A	1: 86,688,043 (GRCm39)	V100I	probably benign	Het
Echdc2	T	C	4: 108,029,328 (GRCm39)	V111A	probably benign	Het
Egr1	A	G	18: 34,996,711 (GRCm39)	T498A	probably benign	Het
Exosc3	T	C	4: 45,317,702 (GRCm39)	K200R	possibly damaging	Het
Exosc8	T	C	3: 54,636,644 (GRCm39)	D229G	probably benign	Het
Ext1	T	A	15: 52,955,808 (GRCm39)	I430F	probably damaging	Het
Fbxw22	T	C	9: 109,232,492 (GRCm39)	N31S	probably benign	Het
Gja8	T	C	3: 96,827,165 (GRCm39)	T166A	probably benign	Het
Gm21814	T	A	6: 149,485,116 (GRCm39)		noncoding transcript	Het
Gm21915	T	A	9: 40,581,944 (GRCm39)	H12Q	probably benign	Het
Hgsnat	G	A	8: 26,437,988 (GRCm39)	R527*	probably null	Het
Jchain	T	C	5: 88,670,364 (GRCm39)	H85R	probably damaging	Het
Kcnb2	T	C	1: 15,383,186 (GRCm39)	C171R	probably benign	Het
Kcnk3	C	A	5: 30,780,149 (GRCm39)	R400S	possibly damaging	Het
Klhl28	C	T	12: 65,004,001 (GRCm39)	E171K	probably damaging	Het
Lrrfip2	T	C	9: 111,053,040 (GRCm39)	I375T	possibly damaging	Het
Mccc1	T	C	3: 36,033,166 (GRCm39)	N326S	probably benign	Het
Med13l	T	C	5: 118,731,615 (GRCm39)	V97A	possibly damaging	Het
Mertk	C	A	2: 128,625,920 (GRCm39)	T685K	probably benign	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Myom2	G	A	8: 15,133,310 (GRCm39)	V401M	probably damaging	Het
Nme5	A	C	18: 34,711,738 (GRCm39)	M1R	probably null	Het
Nop2	T	C	6: 125,110,726 (GRCm39)	S68P	probably benign	Het
Notch1	A	T	2: 26,366,126 (GRCm39)	D809E	possibly damaging	Het
Or14c39	T	C	7: 86,343,793 (GRCm39)	I43T	possibly damaging	Het
Ppat	C	T	5: 77,076,525 (GRCm39)		probably benign	Het
Prss23	T	A	7: 89,159,422 (GRCm39)	M216L	probably benign	Het
Psg18	A	T	7: 18,083,279 (GRCm39)	V171D	probably damaging	Het
Psg28	A	G	7: 18,161,816 (GRCm39)	V229A	probably damaging	Het
Qser1	T	C	2: 104,618,176 (GRCm39)	N879D	possibly damaging	Het
Rpap1	T	C	2: 119,600,522 (GRCm39)	N879S	probably benign	Het
Rusc2	T	C	4: 43,415,926 (GRCm39)	S411P	probably damaging	Het
Rxfp2	T	A	5: 149,990,825 (GRCm39)	W519R	probably damaging	Het
Scpep1	T	A	11: 88,832,175 (GRCm39)	Q185L	probably benign	Het
Serpinb11	A	G	1: 107,307,379 (GRCm39)	N270S	probably benign	Het
Serpinb6d	T	A	13: 33,855,427 (GRCm39)	M367K	probably benign	Het
Skint10	T	G	4: 112,584,869 (GRCm39)	I213L	probably benign	Het
Skint5	T	C	4: 113,403,734 (GRCm39)	T1163A	unknown	Het
Slamf9	A	T	1: 172,303,780 (GRCm39)	I42L	possibly damaging	Het
Slc1a3	T	C	15: 8,680,330 (GRCm39)		probably benign	Het
Smad6	T	A	9: 63,861,182 (GRCm39)	Q371L	possibly damaging	Het
Snx31	A	T	15: 36,555,469 (GRCm39)	V26E	probably damaging	Het
Spata31e5	A	G	1: 28,816,943 (GRCm39)	I363T	possibly damaging	Het
Taf4b	A	G	18: 14,955,229 (GRCm39)	N594S	possibly damaging	Het
Tanc2	T	C	11: 105,670,918 (GRCm39)	S172P	probably damaging	Het
Tas2r110	T	A	6: 132,845,438 (GRCm39)	Y156*	probably null	Het
Tbc1d20	G	A	2: 152,135,856 (GRCm39)		probably benign	Het
Timm50	A	T	7: 28,006,284 (GRCm39)	D272E	probably benign	Het
Ttn	T	G	2: 76,730,855 (GRCm39)		probably benign	Het
Vps13c	T	A	9: 67,823,661 (GRCm39)	F1362I	probably benign	Het
Vwf	T	C	6: 125,543,220 (GRCm39)	S154P	probably benign	Het
Zfp445	T	C	9: 122,681,410 (GRCm39)	R844G	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
R0257:Iqgap2	UTSW	13	95,861,052 (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
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'- TCACACTGAGTTCTGAGGTCTG -3'
(R):5'- ATGAAGGGGAGGCTTTGATATC -3'

Sequencing Primer
(F):5'- AGGTCTGTTTATTCCTAGGTCATCAC -3'
(R):5'- AGTCCTTGGTTTTCCTTTGATAACAG -3'

Posted On

2016-06-06