Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03293:Iqgap2'

415958

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Iqgap2

Ensembl Gene

ENSMUSG00000021676

Gene Name

IQ motif containing GTPase activating protein 2

Synonyms

4933417J23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03293

Quality Score

Status

Chromosome

Chromosomal Location

95763685-96028788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95867942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 222 (N222S)

Ref Sequence

ENSEMBL: ENSMUSP00000067685 (fasta)

Gene Model

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

AlphaFold

Q3UQ44

Predicted Effect

probably damaging
Transcript: ENSMUST00000068603
AA Change: N222S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: N222S

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

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	A	1: 11,615,375 (GRCm39)		probably null	Het
Akr1c14	C	T	13: 4,129,130 (GRCm39)	R45*	probably null	Het
Ccdc62	T	A	5: 124,089,288 (GRCm39)	L309I	possibly damaging	Het
Ccdc66	T	A	14: 27,212,628 (GRCm39)	N565I	probably damaging	Het
Cerkl	G	T	2: 79,172,719 (GRCm39)	A318E	probably damaging	Het
Clec4n	A	T	6: 123,209,105 (GRCm39)	T57S	probably benign	Het
Cluh	A	G	11: 74,556,578 (GRCm39)	E921G	probably benign	Het
Cnbd1	C	T	4: 18,860,565 (GRCm39)	E394K	possibly damaging	Het
Dmgdh	G	T	13: 93,843,209 (GRCm39)	M348I	probably benign	Het
Dnajc13	G	A	9: 104,051,625 (GRCm39)	S1744L	possibly damaging	Het
Dspp	A	T	5: 104,325,427 (GRCm39)	S597C	unknown	Het
Dync1h1	A	T	12: 110,595,168 (GRCm39)	N1360I	probably benign	Het
Eepd1	A	G	9: 25,514,708 (GRCm39)	H505R	possibly damaging	Het
Entr1	A	T	2: 26,277,688 (GRCm39)		probably benign	Het
Gcnt7	T	C	2: 172,296,303 (GRCm39)	T174A	possibly damaging	Het
Gnb1	T	C	4: 155,625,004 (GRCm39)		probably benign	Het
Gpam	A	G	19: 55,059,448 (GRCm39)	S800P	probably benign	Het
Gsr	T	C	8: 34,185,024 (GRCm39)		probably benign	Het
Herc2	A	G	7: 55,804,878 (GRCm39)	K2302R	probably benign	Het
Hipk1	C	A	3: 103,684,575 (GRCm39)	A347S	possibly damaging	Het
Marco	T	A	1: 120,422,524 (GRCm39)	M46L	probably benign	Het
Morc2b	A	T	17: 33,357,337 (GRCm39)	V145D	probably damaging	Het
Mprip	C	A	11: 59,586,989 (GRCm39)	P54Q	probably damaging	Het
Ndufv2	A	T	17: 66,390,444 (GRCm39)	C175*	probably null	Het
Or13c25	A	G	4: 52,910,835 (GRCm39)	*320Q	probably null	Het
Or4p20	T	C	2: 88,253,571 (GRCm39)	D266G	probably damaging	Het
Orc3	A	C	4: 34,595,210 (GRCm39)	I195S	probably damaging	Het
Otos	C	A	1: 92,572,135 (GRCm39)	E64*	probably null	Het
Plxna2	T	C	1: 194,487,253 (GRCm39)	S1603P	probably damaging	Het
Rlf	A	T	4: 121,005,527 (GRCm39)	I1151N	probably benign	Het
Scaper	A	G	9: 55,782,107 (GRCm39)	V283A	probably benign	Het
Slc25a43	A	G	X: 36,039,252 (GRCm39)	T270A	probably benign	Het
Slc35a5	A	G	16: 44,964,144 (GRCm39)	V78A	probably damaging	Het
Smurf1	A	T	5: 144,818,609 (GRCm39)	D636E	probably benign	Het
Tchhl1	A	T	3: 93,377,582 (GRCm39)	E95D	probably damaging	Het
Tcp10a	A	G	17: 7,593,891 (GRCm39)	E72G	possibly damaging	Het
Tmem232	A	G	17: 65,757,369 (GRCm39)	S275P	probably damaging	Het
Ugt1a5	T	C	1: 88,094,540 (GRCm39)	F256S	probably damaging	Het
Ulbp3	A	G	10: 3,075,699 (GRCm39)		noncoding transcript	Het
Vmn2r5	A	G	3: 64,398,747 (GRCm39)	V744A	probably benign	Het
Vmn2r53	A	T	7: 12,332,349 (GRCm39)	S433R	probably benign	Het
Vmn2r9	A	T	5: 108,995,997 (GRCm39)	I217N	probably damaging	Het
Wdr83	G	T	8: 85,807,216 (GRCm39)	A10E	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
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
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

Posted On

2016-08-02