Mutagenetix > Incidental Mutation

Incidental Mutation 'R8709:Iqgap2'

669459

Institutional Source

Beutler Lab

Gene Symbol

Iqgap2

Ensembl Gene

ENSMUSG00000021676

Gene Name

IQ motif containing GTPase activating protein 2

Synonyms

4933417J23Rik

MMRRC Submission

068563-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8709 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95627177-95891922 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95660205 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1147 (H1147R)

Ref Sequence

ENSEMBL: ENSMUSP00000067685 (fasta)

Gene Model

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

AlphaFold

Q3UQ44

Predicted Effect

probably damaging
Transcript: ENSMUST00000068603
AA Change: H1147R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: H1147R

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: 99.7%
20x: 99.1%

Validation Efficiency

96% (55/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	A	G	4: 124,610,523 (GRCm38)	S79P	unknown	Het
Adamts20	T	A	15: 94,341,066 (GRCm38)	D757V	probably damaging	Het
Adamts9	C	T	6: 92,807,163 (GRCm38)	G1570D	probably damaging	Het
Adamtsl3	A	G	7: 82,428,434 (GRCm38)	Y109C	possibly damaging	Het
Agl	G	A	3: 116,772,472 (GRCm38)	R335C		Het
Ankfy1	C	A	11: 72,755,706 (GRCm38)	T805K	possibly damaging	Het
Cast	A	T	13: 74,744,661 (GRCm38)	V96E	probably damaging	Het
Cdh17	G	T	4: 11,795,685 (GRCm38)	E422*	probably null	Het
Cox4i1	T	A	8: 120,669,371 (GRCm38)	L21H	possibly damaging	Het
Cwc22	T	C	2: 77,896,350 (GRCm38)	E795G	probably benign	Het
Cwf19l2	C	A	9: 3,430,723 (GRCm38)	Q352K	probably benign	Het
Cyp2d9	T	C	15: 82,455,075 (GRCm38)	V226A	probably benign	Het
Dnah12	A	G	14: 26,693,602 (GRCm38)	I53V	probably benign	Het
Dnah7a	T	C	1: 53,635,317 (GRCm38)	I434V	probably benign	Het
Dock8	C	T	19: 25,078,084 (GRCm38)	Q137*	probably null	Het
Eif4b	T	G	15: 102,093,681 (GRCm38)	V515G	unknown	Het
Far2	T	A	6: 148,165,635 (GRCm38)	N339K	probably benign	Het
Gm13124	C	G	4: 144,555,293 (GRCm38)	A310P	probably damaging	Het
Gm16486	T	C	8: 70,709,723 (GRCm38)	C522R	possibly damaging	Het
Gpr22	T	C	12: 31,709,830 (GRCm38)	T98A	probably damaging	Het
Hamp2	A	G	7: 30,922,549 (GRCm38)	C72R	probably damaging	Het
Hmgn1	G	A	16: 96,127,340 (GRCm38)	P16S	possibly damaging	Het
Hspd1	A	G	1: 55,081,763 (GRCm38)	S256P	probably benign	Het
Itgb1	T	A	8: 128,713,406 (GRCm38)		probably benign	Het
Klhl29	A	T	12: 5,090,681 (GRCm38)	W654R	probably damaging	Het
Krtap22-2	T	A	16: 89,010,626 (GRCm38)	Y28F	unknown	Het
Lcp2	T	A	11: 34,054,354 (GRCm38)		probably benign	Het
Muc5ac	T	G	7: 141,816,926 (GRCm38)	L3225R	possibly damaging	Het
Myom3	A	G	4: 135,796,296 (GRCm38)	E908G	possibly damaging	Het
Nup54	A	G	5: 92,422,408 (GRCm38)		probably benign	Het
Olfr1247	C	T	2: 89,610,022 (GRCm38)	V27I	probably benign	Het
Olfr290	T	A	7: 84,916,463 (GRCm38)	I228N	probably damaging	Het
Olfr59	T	A	11: 74,289,228 (GRCm38)	I194N	possibly damaging	Het
Olfr609	T	C	7: 103,492,312 (GRCm38)	T189A	probably benign	Het
Pak4	A	C	7: 28,562,544 (GRCm38)	D453E	probably benign	Het
Pkd1l1	T	C	11: 8,855,567 (GRCm38)	T2120A		Het
Pkhd1l1	T	A	15: 44,518,174 (GRCm38)	S1099T	probably benign	Het
Pld2	C	T	11: 70,553,449 (GRCm38)	R524W	probably damaging	Het
Polr1a	T	A	6: 71,974,848 (GRCm38)	D1466E	probably benign	Het
Pxdn	C	T	12: 30,006,602 (GRCm38)	L1271F	probably damaging	Het
Rp1l1	A	C	14: 64,031,846 (GRCm38)	D1627A	probably damaging	Het
Sephs1	T	C	2: 4,884,591 (GRCm38)	V60A	probably benign	Het
Sipa1	C	T	19: 5,660,952 (GRCm38)	R10Q	probably damaging	Het
Sp4	T	C	12: 118,299,454 (GRCm38)	T286A	possibly damaging	Het
Spag5	T	A	11: 78,301,912 (GRCm38)	S23R	probably benign	Het
Spag9	T	A	11: 94,068,090 (GRCm38)	N313K	probably benign	Het
Stag1	T	A	9: 100,890,922 (GRCm38)		probably benign	Het
Stkld1	T	A	2: 26,945,805 (GRCm38)	H217Q	probably benign	Het
Stxbp2	T	A	8: 3,633,914 (GRCm38)	F104I	possibly damaging	Het
Tcf12	A	T	9: 71,922,787 (GRCm38)	S131T	probably benign	Het
Tcf12	A	G	9: 71,858,505 (GRCm38)	V575A	possibly damaging	Het
Tg	T	A	15: 66,681,937 (GRCm38)	S400R	probably benign	Het
Tomm40	T	C	7: 19,710,778 (GRCm38)	T200A	possibly damaging	Het
Trio	T	C	15: 27,919,237 (GRCm38)	E71G	unknown	Het
Zfp292	A	T	4: 34,805,982 (GRCm38)	V2359E	probably 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
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
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'- TTATCCAGGGCAGTTGCTG -3'
(R):5'- AAAGCAACTAGAGCTCATTTGTCTC -3'

Sequencing Primer
(F):5'- TGGGGATACAGCCTCGTG -3'
(R):5'- CCGATGGCTTTGACATCAT -3'

Posted On

2021-04-30