Mutagenetix > Incidental Mutation

Incidental Mutation 'R8121:Iqgap2'

631521

Institutional Source

Beutler Lab

Gene Symbol

Iqgap2

Ensembl Gene

ENSMUSG00000021676

Gene Name

IQ motif containing GTPase activating protein 2

Synonyms

4933417J23Rik

MMRRC Submission

067550-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8121 (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 95861076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 350 (N350S)

Ref Sequence

ENSEMBL: ENSMUSP00000067685 (fasta)

Gene Model

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

AlphaFold

Q3UQ44

Predicted Effect

probably benign
Transcript: ENSMUST00000068603
AA Change: N350S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: N350S

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

Meta Mutation Damage Score

0.0591

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.1%
20x: 97.3%

Validation Efficiency

100% (60/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	T	6: 83,138,893 (GRCm39)	M273L	probably benign	Het
Abi3bp	A	T	16: 56,452,241 (GRCm39)	K912N	unknown	Het
Arfgap2	T	C	2: 91,096,028 (GRCm39)	F62L	probably benign	Het
Arhgap45	A	G	10: 79,853,909 (GRCm39)	E141G	probably damaging	Het
Atraid	G	A	5: 31,211,642 (GRCm39)		probably null	Het
Cd101	G	A	3: 100,927,898 (GRCm39)	A65V	probably damaging	Het
Cd177	A	G	7: 24,459,067 (GRCm39)	V114A	probably benign	Het
Cdh6	T	C	15: 13,044,757 (GRCm39)	N455S	probably damaging	Het
Cdk14	A	T	5: 5,277,195 (GRCm39)	S145T	possibly damaging	Het
Ces1h	T	C	8: 94,080,104 (GRCm39)	E470G	unknown	Het
Cfap58	A	G	19: 48,017,543 (GRCm39)	Y801C	probably benign	Het
Clec2d	C	T	6: 129,161,847 (GRCm39)	T160M	probably benign	Het
Cryz	A	G	3: 154,327,382 (GRCm39)	I269V	probably benign	Het
Ctdp1	A	T	18: 80,499,223 (GRCm39)	Y240N	probably damaging	Het
Dapk1	A	G	13: 60,909,212 (GRCm39)	Y1275C	probably damaging	Het
Dnah9	A	G	11: 65,908,201 (GRCm39)	I2385T	probably benign	Het
Dpp8	A	G	9: 64,985,362 (GRCm39)	M807V	probably benign	Het
Entpd3	T	A	9: 120,384,720 (GRCm39)	I99N	probably damaging	Het
Fbxw11	A	G	11: 32,670,646 (GRCm39)	E204G	possibly damaging	Het
Fscn1	T	C	5: 142,946,616 (GRCm39)	M138T	probably damaging	Het
Gm5114	T	A	7: 39,057,552 (GRCm39)	Q689L	probably benign	Het
Kcnj10	T	A	1: 172,196,809 (GRCm39)	C108S	probably damaging	Het
Krtap10-4	G	A	10: 77,662,840 (GRCm39)	R13C	unknown	Het
Lmo7	T	C	14: 102,163,736 (GRCm39)	I1527T	unknown	Het
Lrrc17	A	G	5: 21,775,329 (GRCm39)	K297R	probably benign	Het
Ltb4r1	G	A	14: 56,005,579 (GRCm39)	R294H	probably damaging	Het
Macc1	A	G	12: 119,410,324 (GRCm39)	D364G	probably damaging	Het
Mavs	A	C	2: 131,087,395 (GRCm39)	T298P	probably damaging	Het
Myh8	G	T	11: 67,180,647 (GRCm39)	A628S	probably benign	Het
Neurl4	A	T	11: 69,799,056 (GRCm39)		probably null	Het
Nicn1	C	A	9: 108,172,304 (GRCm39)	T213K	probably damaging	Het
Nptx1	G	A	11: 119,433,492 (GRCm39)	T369I	probably damaging	Het
Nt5c1a	T	C	4: 123,102,235 (GRCm39)	S54P	probably damaging	Het
Nup210l	G	A	3: 90,022,428 (GRCm39)	R132Q	probably damaging	Het
Or2b11	A	T	11: 59,461,870 (GRCm39)	I232N	probably damaging	Het
Or4k41	A	G	2: 111,279,505 (GRCm39)	T7A	probably benign	Het
Or4p18	A	T	2: 88,233,040 (GRCm39)	F79L	probably benign	Het
Or7g22	G	A	9: 19,048,988 (GRCm39)	G233E	probably damaging	Het
Pip5k1b	A	T	19: 24,337,355 (GRCm39)	I311N	probably damaging	Het
Pkdrej	C	T	15: 85,699,655 (GRCm39)	V2094I	probably benign	Het
Pla2g2f	A	G	4: 138,479,621 (GRCm39)	Y179H	probably damaging	Het
Plekha3	A	T	2: 76,516,992 (GRCm39)	T115S	probably damaging	Het
Ppp4c	A	G	7: 126,386,496 (GRCm39)	L167P	probably damaging	Het
Pramel28	T	A	4: 143,691,611 (GRCm39)	S371C	probably benign	Het
Rarg	A	G	15: 102,148,393 (GRCm39)	I238T	probably damaging	Het
Scn7a	A	T	2: 66,531,203 (GRCm39)	I558N	probably damaging	Het
Sema3a	C	A	5: 13,649,215 (GRCm39)	H655N	probably damaging	Het
Serpinb6c	T	C	13: 34,064,201 (GRCm39)	M285V	probably benign	Het
Setx	T	A	2: 29,035,046 (GRCm39)	S510R	possibly damaging	Het
Sgcz	A	G	8: 37,990,457 (GRCm39)	S299P	probably damaging	Het
Slc12a2	T	A	18: 58,032,403 (GRCm39)	F368I	probably benign	Het
Slc7a9	C	A	7: 35,153,542 (GRCm39)	T181K	probably damaging	Het
Slco2b1	G	A	7: 99,334,760 (GRCm39)	T237M	probably benign	Het
Spg11	A	G	2: 121,900,348 (GRCm39)		probably null	Het
Tbc1d22b	G	T	17: 29,791,945 (GRCm39)	G225V	probably damaging	Het
Tbcd	A	G	11: 121,487,969 (GRCm39)		probably null	Het
Unc93a	T	C	17: 13,328,560 (GRCm39)	Y431C	probably benign	Het
Vmn1r65	C	T	7: 6,011,464 (GRCm39)	V257I	possibly damaging	Het
Vmn2r124	A	T	17: 18,282,433 (GRCm39)	T154S	probably benign	Het
Wnk2	A	T	13: 49,214,415 (GRCm39)	L1487*	probably null	Het
Zfp853	G	A	5: 143,274,018 (GRCm39)	A549V	probably damaging	Het
Zfp936	C	T	7: 42,839,547 (GRCm39)	T338I	possibly 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
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'- GGGAAACTAAACCCTGGGACTG -3'
(R):5'- TGCATCAGGACCTTGGGAAG -3'

Sequencing Primer
(F):5'- TAAACCCTGGGACTGGCACC -3'
(R):5'- GAGGAAAGCATACATTCTCACTTAG -3'

Posted On

2020-06-30