Mutagenetix > Incidental Mutation

Incidental Mutation 'R0419:Iqgap2'

36946

Institutional Source

Beutler Lab

Gene Symbol

Iqgap2

Ensembl Gene

ENSMUSG00000021676

Gene Name

IQ motif containing GTPase activating protein 2

Synonyms

4933417J23Rik

MMRRC Submission

038621-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0419 (G1)

Quality Score

225

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 C at 95826207 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221667

Meta Mutation Damage Score

0.9491

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

98% (54/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,601,842 (GRCm39)		probably benign	Het
5730507C01Rik	A	T	12: 18,583,424 (GRCm39)	R161S	possibly damaging	Het
Adamts5	T	C	16: 85,663,530 (GRCm39)	I735V	probably benign	Het
Arid1a	G	T	4: 133,408,435 (GRCm39)	P2024Q	unknown	Het
Ascc3	G	T	10: 50,625,022 (GRCm39)	V1637L	probably benign	Het
B3galt4	T	C	17: 34,169,764 (GRCm39)	Y158C	probably damaging	Het
BC049715	A	G	6: 136,817,143 (GRCm39)	T128A	possibly damaging	Het
Btaf1	T	A	19: 36,922,629 (GRCm39)	I11N	probably damaging	Het
Cfb	T	C	17: 35,077,485 (GRCm39)	I496V	probably damaging	Het
Chd8	A	T	14: 52,441,517 (GRCm39)	H858Q	probably benign	Het
Chrne	T	C	11: 70,506,549 (GRCm39)	I324V	probably benign	Het
Clec14a	T	C	12: 58,314,451 (GRCm39)	I390M	probably damaging	Het
Cpsf3	A	G	12: 21,347,800 (GRCm39)	Y207C	probably damaging	Het
Cubn	A	C	2: 13,474,574 (GRCm39)	I410S	possibly damaging	Het
Cubn	T	A	2: 13,474,575 (GRCm39)	I410F	possibly damaging	Het
Dlc1	T	C	8: 37,050,740 (GRCm39)	E997G	possibly damaging	Het
Emilin1	G	T	5: 31,072,366 (GRCm39)	V71F	probably damaging	Het
Esrp2	T	C	8: 106,861,307 (GRCm39)	E164G	probably damaging	Het
Fars2	A	G	13: 36,721,285 (GRCm39)	T410A	probably benign	Het
Fat3	A	G	9: 15,903,552 (GRCm39)	V2981A	probably damaging	Het
Fkbp15	G	A	4: 62,244,373 (GRCm39)	T472I	probably benign	Het
Gm6871	A	G	7: 41,222,869 (GRCm39)	V73A	probably benign	Het
Gnl2	T	G	4: 124,947,320 (GRCm39)	S647R	probably benign	Het
Grb10	T	C	11: 11,884,207 (GRCm39)	I500V	possibly damaging	Het
Herc1	T	C	9: 66,353,356 (GRCm39)		probably benign	Het
Kcnu1	A	T	8: 26,427,646 (GRCm39)	N321I	probably benign	Het
Kif23	G	A	9: 61,833,687 (GRCm39)	R519*	probably null	Het
Klhl1	C	T	14: 96,619,225 (GRCm39)	R224Q	probably benign	Het
Lama1	T	C	17: 68,098,605 (GRCm39)		probably null	Het
Lamp3	T	C	16: 19,492,302 (GRCm39)	Y314C	probably damaging	Het
Lamtor5	C	A	3: 107,189,227 (GRCm39)	R88S	probably damaging	Het
Nbea	G	T	3: 55,726,715 (GRCm39)	A2088E	probably benign	Het
Neo1	A	G	9: 58,897,463 (GRCm39)		probably benign	Het
Ntn4	A	T	10: 93,518,291 (GRCm39)	R199S	probably benign	Het
Or5ap2	A	T	2: 85,680,311 (GRCm39)	R172*	probably null	Het
Plekho2	A	G	9: 65,464,334 (GRCm39)	S172P	possibly damaging	Het
Pmp2	T	C	3: 10,245,823 (GRCm39)	Y129C	probably damaging	Het
Prss3b	T	C	6: 41,011,281 (GRCm39)	N34D	probably benign	Het
Ralgapa2	A	T	2: 146,270,592 (GRCm39)	M578K	possibly damaging	Het
Ranbp3	C	T	17: 57,015,219 (GRCm39)	T307M	possibly damaging	Het
Serpinb11	G	A	1: 107,304,590 (GRCm39)	W185*	probably null	Het
Setdb2	A	T	14: 59,644,193 (GRCm39)		probably null	Het
Sirpb1b	A	T	3: 15,613,656 (GRCm39)	V75E	probably damaging	Het
Slc13a1	A	T	6: 24,100,292 (GRCm39)	L397Q	probably damaging	Het
Slc19a1	T	A	10: 76,878,742 (GRCm39)	I355N	probably damaging	Het
Slc51a	T	A	16: 32,295,254 (GRCm39)	I275F	possibly damaging	Het
Spink14	T	C	18: 44,164,934 (GRCm39)	S84P	probably damaging	Het
Stx2	A	G	5: 129,070,641 (GRCm39)		probably benign	Het
Tgfbi	G	T	13: 56,780,006 (GRCm39)		probably benign	Het
Tshr	T	A	12: 91,504,643 (GRCm39)	M527K	probably damaging	Het
Upb1	T	C	10: 75,248,717 (GRCm39)	V79A	probably damaging	Het
Zdhhc5	A	T	2: 84,521,587 (GRCm39)		probably null	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp280d	T	C	9: 72,219,519 (GRCm39)	V32A	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
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'- GTTACTGGGAACAGGGCAACTAGC -3'
(R):5'- TGAGTCTGCATAGGACAGCAGCAC -3'

Sequencing Primer
(F):5'- GCAACTAGCTAGTGACATGTTGG -3'
(R):5'- cccccaccagccataac -3'

Posted On

2013-05-09