Mutagenetix > Incidental Mutation

Incidental Mutation 'R6404:Iqgap2'

518909

Institutional Source

Beutler Lab

Gene Symbol

Iqgap2

Ensembl Gene

ENSMUSG00000021676

Gene Name

IQ motif containing GTPase activating protein 2

Synonyms

4933417J23Rik

MMRRC Submission

044549-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6404 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95627177-95891922 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95729477 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 298 (I298T)

Ref Sequence

ENSEMBL: ENSMUSP00000067685 (fasta)

Gene Model

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

AlphaFold

Q3UQ44

Predicted Effect

probably benign
Transcript: ENSMUST00000068603
AA Change: I298T

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: I298T

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

0.5599

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (40/41)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,265,918 (GRCm38)	D1540G	probably benign	Het
Adamts7	A	T	9: 90,180,456 (GRCm38)		probably null	Het
Apol10a	C	A	15: 77,489,041 (GRCm38)	F292L	probably benign	Het
Atp13a4	A	T	16: 29,471,901 (GRCm38)	Y243*	probably null	Het
Cc2d2a	A	G	5: 43,704,074 (GRCm38)	N660D	possibly damaging	Het
Ccdc57	T	C	11: 120,894,712 (GRCm38)	T466A	probably benign	Het
Ccdc74a	A	T	16: 17,650,025 (GRCm38)	N249Y	possibly damaging	Het
Cd3e	T	A	9: 45,001,128 (GRCm38)	E106V	probably damaging	Het
Col4a1	G	T	8: 11,207,409 (GRCm38)		probably null	Het
Csmd2	T	C	4: 128,521,950 (GRCm38)	Y2691H	possibly damaging	Het
Dmxl2	T	C	9: 54,375,536 (GRCm38)	R2786G	probably damaging	Het
Dpyd	A	G	3: 119,265,957 (GRCm38)	T768A	probably benign	Het
Endou	T	A	15: 97,712,131 (GRCm38)	Q428L	probably damaging	Het
Fam13c	T	C	10: 70,448,816 (GRCm38)		probably null	Het
Fhip1b	G	A	7: 105,384,991 (GRCm38)	R478*	probably null	Het
Frmd5	G	A	2: 121,549,218 (GRCm38)	R70*	probably null	Het
Fsip2	A	G	2: 82,990,086 (GRCm38)	T5388A	possibly damaging	Het
Gm4131	T	A	14: 62,481,149 (GRCm38)	R3*	probably null	Het
Habp4	A	G	13: 64,182,186 (GRCm38)	T302A	possibly damaging	Het
Ift81	A	T	5: 122,611,006 (GRCm38)	D27E	probably damaging	Het
Iqcf3	T	C	9: 106,552,884 (GRCm38)	I107V	probably benign	Het
Lilrb4b	A	G	10: 51,485,729 (GRCm38)	D199G	probably damaging	Het
Lsm8	C	T	6: 18,848,740 (GRCm38)	S3F	possibly damaging	Het
Meox1	T	C	11: 101,878,656 (GRCm38)	E238G	probably benign	Het
Naip1	A	T	13: 100,423,219 (GRCm38)	D1092E	probably benign	Het
Neb	T	C	2: 52,207,725 (GRCm38)	Y901C	probably damaging	Het
Nfat5	A	G	8: 107,370,588 (GRCm38)	M121V	probably benign	Het
Notch2	G	A	3: 98,081,998 (GRCm38)	G278D	probably damaging	Het
Or4c121	T	C	2: 89,193,562 (GRCm38)	I157M	probably damaging	Het
Pbld2	T	A	10: 63,054,328 (GRCm38)	S172T	probably damaging	Het
Pla2g7	T	A	17: 43,594,797 (GRCm38)	Y83N	probably damaging	Het
Plxnb1	A	T	9: 109,116,637 (GRCm38)	I2079F	probably damaging	Het
Rara	T	C	11: 98,961,013 (GRCm38)	F17L	probably benign	Het
Skint5	G	A	4: 113,942,609 (GRCm38)	T121I	probably damaging	Het
Slco6c1	T	C	1: 97,118,605 (GRCm38)	Y251C	probably damaging	Het
Slmap	T	A	14: 26,422,411 (GRCm38)		probably null	Het
Uba2	A	T	7: 34,154,560 (GRCm38)	L319Q	probably damaging	Het
Vmn2r96	A	T	17: 18,597,531 (GRCm38)	I457F	probably damaging	Het
Zfp57	A	T	17: 37,009,824 (GRCm38)	H190L	probably damaging	Het
Zfp738	A	G	13: 67,671,060 (GRCm38)	S271P	possibly damaging	Het
Zp2	A	T	7: 120,135,542 (GRCm38)	H474Q	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
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
R8369:Iqgap2	UTSW	13	95,661,603 (GRCm38)	missense	probably damaging	1.00
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'- GGGAAACCGTGGGATATCAC -3'
(R):5'- AGCCTTGTCCACAGATCAGC -3'

Sequencing Primer
(F):5'- TGGGATATCACGTCACAATGAC -3'
(R):5'- ATGGAGCAGGTATCCCACG -3'

Posted On

2018-05-24