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

95763685-96028788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95796840 bp (GRCm39)

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: 90,077,353 (GRCm39)	N1340S	probably damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Antxr1	C	A	6: 87,261,291 (GRCm39)	R167L	probably damaging	Het
BC107364	T	C	3: 96,348,026 (GRCm39)	S88G	unknown	Het
Cfap100	T	G	6: 90,390,400 (GRCm39)	E80A	probably damaging	Het
Dhx8	C	A	11: 101,655,748 (GRCm39)	H1107Q	probably damaging	Het
Dip2c	G	A	13: 9,543,213 (GRCm39)		probably null	Het
Dpep2	A	T	8: 106,716,542 (GRCm39)	D212E	probably benign	Het
Dpep3	T	C	8: 106,705,728 (GRCm39)	T66A	probably benign	Het
Fat4	G	T	3: 38,997,077 (GRCm39)	M1765I	probably benign	Het
Gbgt1	G	A	2: 28,394,998 (GRCm39)	R212H	probably benign	Het
Gimap4	T	C	6: 48,668,338 (GRCm39)	S215P	possibly damaging	Het
Gpr161	A	T	1: 165,134,136 (GRCm39)	T133S	possibly damaging	Het
Grin2c	G	T	11: 115,149,108 (GRCm39)	S163R	possibly damaging	Het
Grip2	T	A	6: 91,763,472 (GRCm39)	N109Y	probably damaging	Het
H60c	G	A	10: 3,210,270 (GRCm39)	T93I	possibly damaging	Het
Hmgcl	A	G	4: 135,682,962 (GRCm39)	N138S	probably damaging	Het
Hoxa3	G	T	6: 52,147,058 (GRCm39)	Y398*	probably null	Het
Igkv1-132	A	G	6: 67,737,091 (GRCm39)	N19S	probably benign	Het
Ikbip	A	G	10: 90,932,181 (GRCm39)	N275S	probably benign	Het
Il7	T	A	3: 7,642,239 (GRCm39)	T33S	probably benign	Het
Lmo7	A	G	14: 102,148,281 (GRCm39)	D934G	possibly damaging	Het
Mroh4	T	C	15: 74,492,978 (GRCm39)	Q310R	possibly damaging	Het
Mtmr14	C	A	6: 113,242,437 (GRCm39)	Y22*	probably null	Het
Muc5b	G	T	7: 141,422,244 (GRCm39)		probably null	Het
Naga	T	G	15: 82,214,975 (GRCm39)	K328Q	probably benign	Het
Neo1	G	A	9: 58,829,132 (GRCm39)	T589I	probably benign	Het
Nme5	A	C	18: 34,711,639 (GRCm39)	I34S	probably damaging	Het
Nrip2	T	C	6: 128,385,199 (GRCm39)	L210P	possibly damaging	Het
Nup93	A	G	8: 95,030,807 (GRCm39)	D424G	probably benign	Het
Or12e9	T	C	2: 87,202,497 (GRCm39)	V207A	probably benign	Het
Or1e26	G	A	11: 73,479,874 (GRCm39)	S230F	probably damaging	Het
Papss1	T	A	3: 131,311,696 (GRCm39)	V308E	probably benign	Het
Pilrb1	T	A	5: 137,855,789 (GRCm39)	Y34F	probably benign	Het
Pira2	T	A	7: 3,845,300 (GRCm39)	E319D	probably benign	Het
Pkhd1	G	A	1: 20,682,929 (GRCm39)	T91M	probably damaging	Het
Prph2	A	G	17: 47,230,790 (GRCm39)	T228A	probably benign	Het
Ranbp17	G	T	11: 33,169,214 (GRCm39)	S1000*	probably null	Het
Rbm27	A	C	18: 42,457,178 (GRCm39)	H651P	probably damaging	Het
Scyl2	A	T	10: 89,476,835 (GRCm39)	D763E	probably benign	Het
Sltm	A	G	9: 70,488,644 (GRCm39)	Y598C	probably damaging	Het
Smc2	A	T	4: 52,451,322 (GRCm39)	K322I	probably benign	Het
Tcf4	G	A	18: 69,790,873 (GRCm39)	R271Q	probably null	Het
Tex36	C	T	7: 133,196,140 (GRCm39)	D87N	probably damaging	Het
Tex44	A	C	1: 86,354,751 (GRCm39)	H220P	probably benign	Het
Tjp1	T	C	7: 64,950,825 (GRCm39)	D1683G	possibly damaging	Het
Trav7-2	T	C	14: 53,628,573 (GRCm39)	S104P	probably damaging	Het
Trim55	C	T	3: 19,745,719 (GRCm39)	R532C	probably damaging	Het
Ube3c	T	A	5: 29,807,215 (GRCm39)	L338Q	probably damaging	Het
Ush2a	A	G	1: 188,546,556 (GRCm39)	H3444R	possibly damaging	Het
Vars1	A	G	17: 35,234,717 (GRCm39)	D1182G	probably benign	Het
Vit	T	A	17: 78,930,232 (GRCm39)	I399N	possibly damaging	Het
Vmn1r16	A	T	6: 57,300,091 (GRCm39)	L177*	probably null	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
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'- ATGACAAATGCTCATTCTCGC -3'
(R):5'- GCATGTGGTTGTATTCACCTCC -3'

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

Posted On

2018-07-23