Mutagenetix > Incidental Mutation

Incidental Mutation 'R6648:Iqgap2'

524380

Institutional Source

Beutler Lab

Gene Symbol

Iqgap2

Ensembl Gene

ENSMUSG00000021676

Gene Name

IQ motif containing GTPase activating protein 2

Synonyms

4933417J23Rik

MMRRC Submission

044769-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6648 (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 95682211 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 679 (E679G)

Ref Sequence

ENSEMBL: ENSMUSP00000067685 (fasta)

Gene Model

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

AlphaFold

Q3UQ44

Predicted Effect

probably benign
Transcript: ENSMUST00000068603
AA Change: E679G

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: E679G

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

0.1085

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

98% (42/43)

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
1500015O10Rik	T	A	1: 43,738,691 (GRCm38)	F87I	probably damaging	Het
Aars2	T	C	17: 45,516,564 (GRCm38)	Y511H	probably damaging	Het
Arhgef38	A	T	3: 133,132,475 (GRCm38)	I600N	probably damaging	Het
Cacna1g	A	T	11: 94,432,569 (GRCm38)	C1270S	probably damaging	Het
Ccar2	T	G	14: 70,139,225 (GRCm38)	D890A	probably benign	Het
Cep76	A	T	18: 67,619,734 (GRCm38)	V548D	probably benign	Het
Chat	T	G	14: 32,454,694 (GRCm38)	Q41P	probably benign	Het
Ddx24	T	A	12: 103,408,375 (GRCm38)	N850I	probably benign	Het
Dst	A	G	1: 34,262,041 (GRCm38)	I5879V	possibly damaging	Het
Ece1	A	G	4: 137,921,159 (GRCm38)	T92A	probably benign	Het
Fpgs	G	T	2: 32,684,787 (GRCm38)	C439*	probably null	Het
Gm21994	T	C	2: 150,255,177 (GRCm38)	I111V	probably benign	Het
H2-Q4	A	T	17: 35,383,005 (GRCm38)	E281V	probably damaging	Het
Hydin	A	G	8: 110,525,667 (GRCm38)		probably null	Het
Kif12	A	T	4: 63,171,317 (GRCm38)		probably null	Het
Kif21b	T	C	1: 136,152,397 (GRCm38)	V557A	probably benign	Het
Mki67	C	G	7: 135,697,440 (GRCm38)	S1955T	probably damaging	Het
Mybpc1	G	A	10: 88,522,999 (GRCm38)	T1110M	probably damaging	Het
Myh9	T	C	15: 77,766,772 (GRCm38)	H1625R	probably benign	Het
Nbeal2	G	A	9: 110,637,642 (GRCm38)	T704M	probably damaging	Het
Olfr1378	G	A	11: 50,969,173 (GRCm38)	D52N	probably damaging	Het
Olfr1438-ps1	A	T	19: 12,333,766 (GRCm38)	M30K	probably benign	Het
Osbpl9	C	A	4: 109,091,679 (GRCm38)	Q91H	possibly damaging	Het
Pcsk5	A	T	19: 17,575,821 (GRCm38)	L665Q	probably damaging	Het
Pgm5	T	C	19: 24,861,632 (GRCm38)	D53G	probably benign	Het
Plcd4	A	G	1: 74,552,013 (GRCm38)	D189G	probably benign	Het
Plxnb1	A	T	9: 109,104,330 (GRCm38)	Q676L	probably benign	Het
Prss33	A	G	17: 23,834,702 (GRCm38)	S134P	probably benign	Het
Rln1	G	T	19: 29,332,121 (GRCm38)	T86K	probably benign	Het
Rnf213	G	A	11: 119,479,920 (GRCm38)	A4785T	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906 (GRCm38)		probably benign	Het
Sh3tc2	T	C	18: 62,015,040 (GRCm38)	C1274R	probably benign	Het
Slc35a5	A	T	16: 45,143,917 (GRCm38)	F318I	probably damaging	Het
Slc41a3	T	C	6: 90,619,508 (GRCm38)	F20L	probably damaging	Het
Socs4	T	A	14: 47,290,176 (GRCm38)	N189K	probably benign	Het
Tiam2	A	T	17: 3,506,873 (GRCm38)	E1196V	probably damaging	Het
Tmc3	T	A	7: 83,597,543 (GRCm38)	V164D	probably damaging	Het
Trim46	T	C	3: 89,235,242 (GRCm38)	E623G	possibly damaging	Het
Ubr4	C	A	4: 139,452,719 (GRCm38)	C3403*	probably null	Het
Vmn1r194	A	T	13: 22,244,524 (GRCm38)	T104S	probably benign	Het
Vmn2r112	A	T	17: 22,618,486 (GRCm38)	I643F	probably damaging	Het
Zmynd11	T	G	13: 9,713,021 (GRCm38)	S95R	probably benign	Het
Zswim4	C	A	8: 84,230,914 (GRCm38)	R175L	probably benign	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
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'- AAGGCAGTCCCCATTTTAAAGG -3'
(R):5'- GCCATCGTTTCCAGAAGCTATTC -3'

Sequencing Primer
(F):5'- GGCAGTCCCCATTTTAAAGGTTTCC -3'
(R):5'- ATCGTTTCCAGAAGCTATTCTCTATG -3'

Posted On

2018-06-22