Mutagenetix > Incidental Mutation

Incidental Mutation 'R0625:Arhgap22'

57437

Institutional Source

Beutler Lab

Gene Symbol

Arhgap22

Ensembl Gene

ENSMUSG00000063506

Gene Name

Rho GTPase activating protein 22

Synonyms

RHOGAP2, B230341L19Rik

MMRRC Submission

038814-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0625 (G1)

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

32935983-33091891 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33088671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 219 (E219G)

Ref Sequence

ENSEMBL: ENSMUSP00000107586 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111955] [ENSMUST00000111956] [ENSMUST00000140711]

AlphaFold

Q8BL80

Predicted Effect

probably benign
Transcript: ENSMUST00000111955
AA Change: E219G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000107586
Gene: ENSMUSG00000063506
AA Change: E219G

Domain	Start	End	E-Value	Type
Blast:PH	18	57	6e-18	BLAST
RhoGAP	80	187	3.03e-7	SMART
low complexity region	307	318	N/A	INTRINSIC
low complexity region	340	381	N/A	INTRINSIC
low complexity region	388	398	N/A	INTRINSIC
coiled coil region	447	526	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111956
AA Change: E384G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000107587
Gene: ENSMUSG00000063506
AA Change: E384G

Domain	Start	End	E-Value	Type
PH	44	153	1.03e-24	SMART
RhoGAP	176	352	1.96e-65	SMART
low complexity region	472	483	N/A	INTRINSIC
low complexity region	505	546	N/A	INTRINSIC
low complexity region	553	563	N/A	INTRINSIC
coiled coil region	612	691	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140166

Predicted Effect

probably benign
Transcript: ENSMUST00000140711

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.2%

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 GTPase activating protein family which activates a GTPase belonging to the RAS superfamily of small GTP-binding proteins. The encoded protein is insulin-responsive, is dependent on the kinase Akt and requires the Akt-dependent 14-3-3 binding protein which binds sequentially to two serine residues. The result of these interactions is regulation of cell motility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	T	C	9: 53,319,365 (GRCm39)	S2P	probably benign	Het
Abca16	A	C	7: 120,035,116 (GRCm39)	T301P	probably damaging	Het
Acer2	A	G	4: 86,805,399 (GRCm39)	D121G	possibly damaging	Het
Adgrd1	T	C	5: 129,248,995 (GRCm39)		probably null	Het
Arhgap11a	T	C	2: 113,672,056 (GRCm39)	I249V	probably benign	Het
C2cd4b	T	A	9: 67,667,033 (GRCm39)	S10T	probably benign	Het
Cnot6	A	T	11: 49,573,998 (GRCm39)	I224N	probably damaging	Het
Ctrc	T	C	4: 141,568,829 (GRCm39)	T125A	probably damaging	Het
Cxxc5	T	G	18: 35,991,642 (GRCm39)	S14R	unknown	Het
Cyp4f37	T	G	17: 32,853,652 (GRCm39)	F445L	probably damaging	Het
Dcbld1	T	G	10: 52,188,946 (GRCm39)	I186S	probably benign	Het
Dmxl2	T	C	9: 54,289,986 (GRCm39)	T2510A	probably benign	Het
Dnah3	A	G	7: 119,671,110 (GRCm39)	I591T	possibly damaging	Het
Dock5	A	T	14: 68,078,612 (GRCm39)	I204N	probably benign	Het
Dysf	G	A	6: 84,088,969 (GRCm39)		probably null	Het
Erich5	A	G	15: 34,471,515 (GRCm39)	E248G	probably damaging	Het
Fhip1a	A	G	3: 85,637,807 (GRCm39)	V164A	possibly damaging	Het
Foxm1	A	G	6: 128,350,834 (GRCm39)	S712G	probably damaging	Het
Frmpd1	A	G	4: 45,284,055 (GRCm39)	T959A	probably benign	Het
Gfra4	C	T	2: 130,882,176 (GRCm39)	V277I	probably null	Het
Hacd4	T	C	4: 88,353,247 (GRCm39)	I82V	probably benign	Het
Itih2	C	T	2: 10,128,225 (GRCm39)	V159I	possibly damaging	Het
Itpr2	T	A	6: 146,068,149 (GRCm39)	M2410L	probably benign	Het
Marchf11	A	G	15: 26,311,129 (GRCm39)	I202V	probably damaging	Het
Marchf3	A	G	18: 56,944,902 (GRCm39)		probably null	Het
Med12l	G	A	3: 59,154,858 (GRCm39)	E1135K	probably damaging	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mlx	T	C	11: 100,978,608 (GRCm39)	L78P	possibly damaging	Het
Muc5b	T	C	7: 141,400,164 (GRCm39)	C473R	unknown	Het
N4bp2l1	T	A	5: 150,500,210 (GRCm39)	R66*	probably null	Het
Nes	A	G	3: 87,884,479 (GRCm39)	T913A	possibly damaging	Het
Oas1a	T	C	5: 121,037,322 (GRCm39)	E235G	probably damaging	Het
Or5p56	T	C	7: 107,590,396 (GRCm39)	S275P	probably damaging	Het
Or8b1c	T	C	9: 38,384,504 (GRCm39)	S154P	possibly damaging	Het
Or8i2	T	A	2: 86,851,964 (GRCm39)	H308L	probably benign	Het
Parn	C	T	16: 13,458,158 (GRCm39)	V286I	probably benign	Het
Paxip1	G	A	5: 27,970,940 (GRCm39)	Q470*	probably null	Het
Phc2	C	G	4: 128,617,503 (GRCm39)	H510D	possibly damaging	Het
Pla2g4f	T	A	2: 120,135,522 (GRCm39)	D384V	probably damaging	Het
Plpbp	A	T	8: 27,535,159 (GRCm39)	N68I	probably damaging	Het
Podxl2	G	A	6: 88,826,937 (GRCm39)	A123V	possibly damaging	Het
Pole	A	T	5: 110,473,416 (GRCm39)	T1737S	possibly damaging	Het
Ppp3cc	T	C	14: 70,462,476 (GRCm39)	E396G	probably damaging	Het
Pramel7	T	A	2: 87,321,352 (GRCm39)	I228F	probably benign	Het
Prl7d1	A	T	13: 27,894,123 (GRCm39)	C149S	probably benign	Het
Qtrt1	G	T	9: 21,329,584 (GRCm39)	M217I	probably benign	Het
Sec24a	T	A	11: 51,620,281 (GRCm39)	D456V	probably damaging	Het
Shox2	T	G	3: 66,888,877 (GRCm39)		probably null	Het
Skint2	T	A	4: 112,481,283 (GRCm39)	S49T	probably damaging	Het
Smarca5	A	G	8: 81,447,315 (GRCm39)		probably null	Het
Sorcs2	T	A	5: 36,181,916 (GRCm39)	D1068V	possibly damaging	Het
Tmem114	T	C	16: 8,229,966 (GRCm39)		probably null	Het
Ttc7b	T	A	12: 100,321,305 (GRCm39)	M24L	probably benign	Het
Ttll3	A	G	6: 113,385,864 (GRCm39)		probably null	Het
Usp7	C	T	16: 8,522,846 (GRCm39)	D102N	probably benign	Het

Other mutations in Arhgap22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02317:Arhgap22	APN	14	33,081,230 (GRCm39)	missense	probably damaging	1.00
IGL02707:Arhgap22	APN	14	33,085,229 (GRCm39)	splice site	probably benign
R0329:Arhgap22	UTSW	14	33,091,374 (GRCm39)	missense	possibly damaging	0.55
R0330:Arhgap22	UTSW	14	33,091,374 (GRCm39)	missense	possibly damaging	0.55
R0335:Arhgap22	UTSW	14	33,081,065 (GRCm39)	splice site	probably benign
R0961:Arhgap22	UTSW	14	33,089,070 (GRCm39)	missense	probably damaging	0.98
R1167:Arhgap22	UTSW	14	33,065,264 (GRCm39)	splice site	probably null
R1991:Arhgap22	UTSW	14	33,088,916 (GRCm39)	missense	probably damaging	0.98
R3820:Arhgap22	UTSW	14	33,089,378 (GRCm39)	missense	probably benign	0.41
R4377:Arhgap22	UTSW	14	33,091,467 (GRCm39)	missense	probably damaging	0.99
R4670:Arhgap22	UTSW	14	33,084,500 (GRCm39)	missense	probably damaging	1.00
R4671:Arhgap22	UTSW	14	33,084,500 (GRCm39)	missense	probably damaging	1.00
R5177:Arhgap22	UTSW	14	33,088,650 (GRCm39)	missense	probably benign	0.09
R5910:Arhgap22	UTSW	14	33,088,572 (GRCm39)	missense	probably damaging	0.98
R7297:Arhgap22	UTSW	14	32,993,890 (GRCm39)	nonsense	probably null
R7868:Arhgap22	UTSW	14	33,086,473 (GRCm39)	unclassified	probably benign
R8128:Arhgap22	UTSW	14	33,089,042 (GRCm39)	missense	probably benign	0.00
R8900:Arhgap22	UTSW	14	32,993,880 (GRCm39)	nonsense	probably null
R9486:Arhgap22	UTSW	14	33,073,303 (GRCm39)	missense	probably benign	0.04
R9601:Arhgap22	UTSW	14	33,020,727 (GRCm39)	missense	probably damaging	0.98
Z1176:Arhgap22	UTSW	14	33,084,479 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTATTGCCACTTGCAGCCAACC -3'
(R):5'- TTATGAGCCAGTTCCCACCAGAGG -3'

Sequencing Primer
(F):5'- AACCTCTCCCTTTTATCACAGG -3'
(R):5'- GTACCTCTAAGGATGAGTTGACCC -3'

Posted On

2013-07-11