Mutagenetix > Incidental Mutation

Incidental Mutation 'R5910:Arhgap22'

460953

Institutional Source

Beutler Lab

Gene Symbol

Arhgap22

Ensembl Gene

ENSMUSG00000063506

Gene Name

Rho GTPase activating protein 22

Synonyms

RHOGAP2, B230341L19Rik

MMRRC Submission

044107-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32935983-33091891 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33088572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 351 (H351L)

Ref Sequence

ENSEMBL: ENSMUSP00000107587 (fasta)

Gene Model

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

AlphaFold

Q8BL80

Predicted Effect

probably benign
Transcript: ENSMUST00000111955
AA Change: H186L

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

SMART Domains

Protein: ENSMUSP00000107586
Gene: ENSMUSG00000063506
AA Change: H186L

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 damaging
Transcript: ENSMUST00000111956
AA Change: H351L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107587
Gene: ENSMUSG00000063506
AA Change: H351L

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

Meta Mutation Damage Score

0.5389

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

95% (93/98)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,645,076 (GRCm39)	N976D	probably damaging	Het
Adamts1	G	A	16: 85,599,037 (GRCm39)	R188W	probably benign	Het
Adcy4	A	T	14: 56,016,470 (GRCm39)	V327D	probably damaging	Het
Alg8	T	C	7: 97,039,493 (GRCm39)	I408T	possibly damaging	Het
Ankib1	T	C	5: 3,743,217 (GRCm39)	S933G	probably benign	Het
Ap2a2	A	G	7: 141,178,691 (GRCm39)	D106G	probably damaging	Het
Arhgef2	A	G	3: 88,542,327 (GRCm39)	Y310C	probably damaging	Het
Atm	A	T	9: 53,359,380 (GRCm39)	S2804R	probably damaging	Het
Baz2b	A	G	2: 59,807,770 (GRCm39)	L163P	possibly damaging	Het
Bcl2l12	C	T	7: 44,645,967 (GRCm39)		probably null	Het
Cdh23	A	G	10: 60,213,600 (GRCm39)	V1495A	possibly damaging	Het
Cep78	A	G	19: 15,946,492 (GRCm39)	S447P	possibly damaging	Het
Cfap43	G	A	19: 47,768,710 (GRCm39)	T778I	possibly damaging	Het
Cfap54	A	T	10: 92,901,043 (GRCm39)	N170K	probably damaging	Het
Cmya5	A	T	13: 93,229,151 (GRCm39)	L1979Q	probably damaging	Het
Col15a1	A	T	4: 47,289,514 (GRCm39)	E846D	probably damaging	Het
Col5a1	A	G	2: 27,926,900 (GRCm39)	K308E	possibly damaging	Het
Dcst1	T	A	3: 89,257,731 (GRCm39)	T680S	possibly damaging	Het
Dsp	T	C	13: 38,376,445 (GRCm39)	L1410P	possibly damaging	Het
Edem3	T	A	1: 151,646,578 (GRCm39)		probably null	Het
Efcab3	A	T	11: 104,581,760 (GRCm39)	E34V	probably benign	Het
Eif4e2	T	A	1: 87,148,696 (GRCm39)	Y64N	probably damaging	Het
Fcgbp	C	T	7: 27,784,928 (GRCm39)		probably benign	Het
Gm7275	A	T	16: 47,893,826 (GRCm39)		noncoding transcript	Het
Grin3b	G	T	10: 79,808,855 (GRCm39)	V202L	probably benign	Het
Gsdmc4	G	A	15: 63,767,101 (GRCm39)	S223F	possibly damaging	Het
H2bc14	A	G	13: 21,906,470 (GRCm39)	N68S	probably benign	Het
Hbp1	T	C	12: 31,987,651 (GRCm39)	H183R	probably benign	Het
Hectd3	A	G	4: 116,859,331 (GRCm39)	M652V	probably benign	Het
Hmgxb4	T	C	8: 75,726,193 (GRCm39)	F13L	probably benign	Het
Hnrnpab	T	C	11: 51,492,281 (GRCm39)	K271R	probably benign	Het
Ilvbl	A	T	10: 78,412,947 (GRCm39)	K156N	probably benign	Het
Iqce	A	T	5: 140,687,973 (GRCm39)		probably benign	Het
Itpr2	C	A	6: 146,231,069 (GRCm39)	V1194L	probably benign	Het
Kif18b	A	G	11: 102,804,370 (GRCm39)	F384L	probably benign	Het
Klf14	A	G	6: 30,934,774 (GRCm39)	Y287H	probably benign	Het
Klhl6	A	G	16: 19,775,844 (GRCm39)	M238T	probably benign	Het
Lbp	G	A	2: 158,166,477 (GRCm39)	V344I	probably benign	Het
Lrp12	T	C	15: 39,739,439 (GRCm39)		probably null	Het
Mapk7	T	A	11: 61,384,447 (GRCm39)	M1L	probably benign	Het
Muc5b	A	G	7: 141,415,048 (GRCm39)	T2665A	possibly damaging	Het
Ncln	A	T	10: 81,331,912 (GRCm39)		probably null	Het
Nfxl1	T	C	5: 72,697,708 (GRCm39)	R347G	probably benign	Het
Npnt	C	A	3: 132,612,179 (GRCm39)	C231F	probably damaging	Het
Nrap	T	A	19: 56,330,743 (GRCm39)	H1070L	probably benign	Het
Nrxn1	G	T	17: 91,011,746 (GRCm39)	Y294*	probably null	Het
Or4c126	A	G	2: 89,823,782 (GRCm39)	D15G	probably benign	Het
Or9s27	T	C	1: 92,516,429 (GRCm39)	Y126H	probably damaging	Het
Otog	A	G	7: 45,948,022 (GRCm39)	H2341R	possibly damaging	Het
Paqr3	T	C	5: 97,243,887 (GRCm39)		probably null	Het
Pcdhb11	T	C	18: 37,556,796 (GRCm39)	F709L	probably benign	Het
Phf12	G	A	11: 77,918,224 (GRCm39)	R812Q	probably damaging	Het
Polr2a	A	T	11: 69,637,696 (GRCm39)	L216Q	probably damaging	Het
Polrmt	A	G	10: 79,579,331 (GRCm39)	L140P	probably benign	Het
Pou2f3	C	T	9: 43,045,769 (GRCm39)		probably null	Het
Prkcd	A	T	14: 30,317,938 (GRCm39)	N548K	probably benign	Het
Pygb	A	G	2: 150,657,620 (GRCm39)	D361G	probably benign	Het
Rpl9	A	T	5: 65,546,044 (GRCm39)		probably benign	Het
Rubcnl	A	T	14: 75,272,912 (GRCm39)	T211S	probably benign	Het
Rusc1	C	T	3: 88,999,027 (GRCm39)	G252S	probably benign	Het
Scnn1g	A	G	7: 121,337,318 (GRCm39)	T60A	probably damaging	Het
Sipa1l2	T	G	8: 126,218,423 (GRCm39)	T305P	probably benign	Het
Slc18b1	T	A	10: 23,700,565 (GRCm39)		probably benign	Het
Sp100	G	A	1: 85,608,861 (GRCm39)		probably null	Het
Tekt5	A	T	16: 10,205,017 (GRCm39)		probably null	Het
Tlnrd1	T	A	7: 83,533,693 (GRCm39)		probably benign	Het
Tpcn1	A	G	5: 120,685,462 (GRCm39)		probably benign	Het
Tpcn2	T	C	7: 144,814,719 (GRCm39)	I461V	probably benign	Het
Traf3ip1	A	G	1: 91,455,467 (GRCm39)	K643E	probably damaging	Het
Trim33	T	C	3: 103,251,892 (GRCm39)	C914R	probably damaging	Het
Trip11	G	A	12: 101,849,738 (GRCm39)	T1442I	probably damaging	Het
Ttll6	A	G	11: 96,026,415 (GRCm39)	M107V	possibly damaging	Het
Uap1l1	A	G	2: 25,253,445 (GRCm39)		probably benign	Het
Ube3b	T	A	5: 114,553,370 (GRCm39)	I914N	possibly damaging	Het
Usp24	A	G	4: 106,237,665 (GRCm39)	T1107A	probably damaging	Het
Usp40	A	T	1: 87,896,122 (GRCm39)	C811*	probably null	Het
Vps11	T	C	9: 44,270,432 (GRCm39)		probably null	Het
Wdr91	A	T	6: 34,868,422 (GRCm39)	I433N	possibly damaging	Het
Zfp770	G	C	2: 114,026,713 (GRCm39)	S452*	probably null	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
R0625:Arhgap22	UTSW	14	33,088,671 (GRCm39)	missense	probably benign	0.01
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
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'- ATTCAGACACAGGTGAGGTG -3'
(R):5'- AGTGTGCATCTTCTTCCCAGG -3'

Sequencing Primer
(F):5'- ACAGGTGAGGTGCCCCG -3'
(R):5'- CGGCGAAGTTCTAGATAGCACTG -3'

Posted On

2017-02-28