Mutagenetix > Incidental Mutation

Incidental Mutation 'R6658:Iqgap2'

526735

Institutional Source

Beutler Lab

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 #

R6658 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95627177-95891922 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95660332 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 1105 (Y1105N)

Ref Sequence

ENSEMBL: ENSMUSP00000067685 (fasta)

Gene Model

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

AlphaFold

Q3UQ44

Predicted Effect

probably damaging
Transcript: ENSMUST00000068603
AA Change: Y1105N

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

SMART Domains

Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: Y1105N

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: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

96% (53/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	G	9: 90,195,300 (GRCm38)	N1340S	probably damaging	Het
Akr1b1	C	T	6: 34,310,004 (GRCm38)	V206M	possibly damaging	Het
Antxr1	C	A	6: 87,284,309 (GRCm38)	R167L	probably damaging	Het
BC107364	T	C	3: 96,440,710 (GRCm38)	S88G	unknown	Het
Cfap100	T	G	6: 90,413,418 (GRCm38)	E80A	probably damaging	Het
Dhx8	C	A	11: 101,764,922 (GRCm38)	H1107Q	probably damaging	Het
Dip2c	G	A	13: 9,493,177 (GRCm38)		probably null	Het
Dpep2	A	T	8: 105,989,910 (GRCm38)	D212E	probably benign	Het
Dpep3	T	C	8: 105,979,096 (GRCm38)	T66A	probably benign	Het
Fat4	G	T	3: 38,942,928 (GRCm38)	M1765I	probably benign	Het
Gbgt1	G	A	2: 28,504,986 (GRCm38)	R212H	probably benign	Het
Gimap4	T	C	6: 48,691,404 (GRCm38)	S215P	possibly damaging	Het
Gpr161	A	T	1: 165,306,567 (GRCm38)	T133S	possibly damaging	Het
Grin2c	G	T	11: 115,258,282 (GRCm38)	S163R	possibly damaging	Het
Grip2	T	A	6: 91,786,491 (GRCm38)	N109Y	probably damaging	Het
H60c	G	A	10: 3,260,270 (GRCm38)	T93I	possibly damaging	Het
Hmgcl	A	G	4: 135,955,651 (GRCm38)	N138S	probably damaging	Het
Hoxa3	G	T	6: 52,170,078 (GRCm38)	Y398*	probably null	Het
Igkv1-132	A	G	6: 67,760,107 (GRCm38)	N19S	probably benign	Het
Ikbip	A	G	10: 91,096,319 (GRCm38)	N275S	probably benign	Het
Il7	T	A	3: 7,577,179 (GRCm38)	T33S	probably benign	Het
Lmo7	A	G	14: 101,910,845 (GRCm38)	D934G	possibly damaging	Het
Mroh4	T	C	15: 74,621,129 (GRCm38)	Q310R	possibly damaging	Het
Mtmr14	C	A	6: 113,265,476 (GRCm38)	Y22*	probably null	Het
Muc5b	G	T	7: 141,868,507 (GRCm38)		probably null	Het
Naga	T	G	15: 82,330,774 (GRCm38)	K328Q	probably benign	Het
Neo1	G	A	9: 58,921,849 (GRCm38)	T589I	probably benign	Het
Nme5	A	C	18: 34,578,586 (GRCm38)	I34S	probably damaging	Het
Nrip2	T	C	6: 128,408,236 (GRCm38)	L210P	possibly damaging	Het
Nup93	A	G	8: 94,304,179 (GRCm38)	D424G	probably benign	Het
Or12e9	T	C	2: 87,372,153 (GRCm38)	V207A	probably benign	Het
Or1e26	G	A	11: 73,589,048 (GRCm38)	S230F	probably damaging	Het
Papss1	T	A	3: 131,605,935 (GRCm38)	V308E	probably benign	Het
Pilrb1	T	A	5: 137,857,527 (GRCm38)	Y34F	probably benign	Het
Pira2	T	A	7: 3,842,301 (GRCm38)	E319D	probably benign	Het
Pkhd1	G	A	1: 20,612,705 (GRCm38)	T91M	probably damaging	Het
Prph2	A	G	17: 46,919,864 (GRCm38)	T228A	probably benign	Het
Ranbp17	G	T	11: 33,219,214 (GRCm38)	S1000*	probably null	Het
Rbm27	A	C	18: 42,324,113 (GRCm38)	H651P	probably damaging	Het
Scyl2	A	T	10: 89,640,973 (GRCm38)	D763E	probably benign	Het
Sltm	A	G	9: 70,581,362 (GRCm38)	Y598C	probably damaging	Het
Smc2	A	T	4: 52,451,322 (GRCm38)	K322I	probably benign	Het
Tcf4	G	A	18: 69,657,802 (GRCm38)	R271Q	probably null	Het
Tex36	C	T	7: 133,594,411 (GRCm38)	D87N	probably damaging	Het
Tex44	A	C	1: 86,427,029 (GRCm38)	H220P	probably benign	Het
Tjp1	T	C	7: 65,301,077 (GRCm38)	D1683G	possibly damaging	Het
Trav7-2	T	C	14: 53,391,116 (GRCm38)	S104P	probably damaging	Het
Trim55	C	T	3: 19,691,555 (GRCm38)	R532C	probably damaging	Het
Ube3c	T	A	5: 29,602,217 (GRCm38)	L338Q	probably damaging	Het
Ush2a	A	G	1: 188,814,359 (GRCm38)	H3444R	possibly damaging	Het
Vars1	A	G	17: 35,015,741 (GRCm38)	D1182G	probably benign	Het
Vit	T	A	17: 78,622,803 (GRCm38)	I399N	possibly damaging	Het
Vmn1r16	A	T	6: 57,323,106 (GRCm38)	L177*	probably null	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
R6648:Iqgap2	UTSW	13	95,682,211 (GRCm38)	missense	probably benign	0.27
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'- ATGACAAATGCTCATTCTCGC -3'
(R):5'- GCATGTGGTTGTATTCACCTCC -3'

Sequencing Primer
(F):5'- GCCCTCAAACAGCTTGTTGG -3'
(R):5'- ACCAAGTCTGTCAGCCTAAGTTTG -3'

Posted On

2018-07-23