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

95763685-96028788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95796713 bp (GRCm39)

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: 124,504,316 (GRCm39)	S79P	unknown	Het
Aadacl4fm2	C	G	4: 144,281,863 (GRCm39)	A310P	probably damaging	Het
Adamts20	T	A	15: 94,238,947 (GRCm39)	D757V	probably damaging	Het
Adamts9	C	T	6: 92,784,144 (GRCm39)	G1570D	probably damaging	Het
Adamtsl3	A	G	7: 82,077,642 (GRCm39)	Y109C	possibly damaging	Het
Agl	G	A	3: 116,566,121 (GRCm39)	R335C		Het
Ankfy1	C	A	11: 72,646,532 (GRCm39)	T805K	possibly damaging	Het
Cast	A	T	13: 74,892,780 (GRCm39)	V96E	probably damaging	Het
Cdh17	G	T	4: 11,795,685 (GRCm39)	E422*	probably null	Het
Cox4i1	T	A	8: 121,396,110 (GRCm39)	L21H	possibly damaging	Het
Cwc22	T	C	2: 77,726,694 (GRCm39)	E795G	probably benign	Het
Cwf19l2	C	A	9: 3,430,723 (GRCm39)	Q352K	probably benign	Het
Cyp2d9	T	C	15: 82,339,276 (GRCm39)	V226A	probably benign	Het
Dnah12	A	G	14: 26,414,757 (GRCm39)	I53V	probably benign	Het
Dnah7a	T	C	1: 53,674,476 (GRCm39)	I434V	probably benign	Het
Dock8	C	T	19: 25,055,448 (GRCm39)	Q137*	probably null	Het
Eif4b	T	G	15: 102,002,116 (GRCm39)	V515G	unknown	Het
Far2	T	A	6: 148,067,133 (GRCm39)	N339K	probably benign	Het
Gpr22	T	C	12: 31,759,829 (GRCm39)	T98A	probably damaging	Het
Hamp2	A	G	7: 30,621,974 (GRCm39)	C72R	probably damaging	Het
Hmgn1	G	A	16: 95,928,540 (GRCm39)	P16S	possibly damaging	Het
Hspd1	A	G	1: 55,120,922 (GRCm39)	S256P	probably benign	Het
Iqcn	T	C	8: 71,162,372 (GRCm39)	C522R	possibly damaging	Het
Itgb1	T	A	8: 129,439,887 (GRCm39)		probably benign	Het
Klhl29	A	T	12: 5,140,681 (GRCm39)	W654R	probably damaging	Het
Krtap22-2	T	A	16: 88,807,514 (GRCm39)	Y28F	unknown	Het
Lcp2	T	A	11: 34,004,354 (GRCm39)		probably benign	Het
Muc5ac	T	G	7: 141,370,663 (GRCm39)	L3225R	possibly damaging	Het
Myom3	A	G	4: 135,523,607 (GRCm39)	E908G	possibly damaging	Het
Nup54	A	G	5: 92,570,267 (GRCm39)		probably benign	Het
Or1p1	T	A	11: 74,180,054 (GRCm39)	I194N	possibly damaging	Het
Or4a74	C	T	2: 89,440,366 (GRCm39)	V27I	probably benign	Het
Or51af1	T	C	7: 103,141,519 (GRCm39)	T189A	probably benign	Het
Or5ae1	T	A	7: 84,565,671 (GRCm39)	I228N	probably damaging	Het
Pak4	A	C	7: 28,261,969 (GRCm39)	D453E	probably benign	Het
Pkd1l1	T	C	11: 8,805,567 (GRCm39)	T2120A		Het
Pkhd1l1	T	A	15: 44,381,570 (GRCm39)	S1099T	probably benign	Het
Pld2	C	T	11: 70,444,275 (GRCm39)	R524W	probably damaging	Het
Polr1a	T	A	6: 71,951,832 (GRCm39)	D1466E	probably benign	Het
Pxdn	C	T	12: 30,056,601 (GRCm39)	L1271F	probably damaging	Het
Rp1l1	A	C	14: 64,269,295 (GRCm39)	D1627A	probably damaging	Het
Sephs1	T	C	2: 4,889,402 (GRCm39)	V60A	probably benign	Het
Sipa1	C	T	19: 5,710,980 (GRCm39)	R10Q	probably damaging	Het
Sp4	T	C	12: 118,263,189 (GRCm39)	T286A	possibly damaging	Het
Spag5	T	A	11: 78,192,738 (GRCm39)	S23R	probably benign	Het
Spag9	T	A	11: 93,958,916 (GRCm39)	N313K	probably benign	Het
Stag1	T	A	9: 100,772,975 (GRCm39)		probably benign	Het
Stkld1	T	A	2: 26,835,817 (GRCm39)	H217Q	probably benign	Het
Stxbp2	T	A	8: 3,683,914 (GRCm39)	F104I	possibly damaging	Het
Tcf12	A	G	9: 71,765,787 (GRCm39)	V575A	possibly damaging	Het
Tcf12	A	T	9: 71,830,069 (GRCm39)	S131T	probably benign	Het
Tg	T	A	15: 66,553,786 (GRCm39)	S400R	probably benign	Het
Tomm40	T	C	7: 19,444,703 (GRCm39)	T200A	possibly damaging	Het
Trio	T	C	15: 27,919,323 (GRCm39)	E71G	unknown	Het
Zfp292	A	T	4: 34,805,982 (GRCm39)	V2359E	probably damaging	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
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
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'- TTATCCAGGGCAGTTGCTG -3'
(R):5'- AAAGCAACTAGAGCTCATTTGTCTC -3'

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

Posted On

2021-04-30