Mutagenetix > Incidental Mutation

Incidental Mutation 'R9486:Arhgap22'

716613

Institutional Source

Beutler Lab

Gene Symbol

Arhgap22

Ensembl Gene

ENSMUSG00000063506

Gene Name

Rho GTPase activating protein 22

Synonyms

RHOGAP2, B230341L19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9486 (G1)

Quality Score

90.0077

Status

Not validated

Chromosome

Chromosomal Location

32935983-33091891 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33073303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 4 (M4K)

Ref Sequence

ENSEMBL: ENSMUSP00000154670 (fasta)

Gene Model

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

AlphaFold

Q8BL80

Predicted Effect

probably benign
Transcript: ENSMUST00000111955

SMART Domains

Protein: ENSMUSP00000107586
Gene: ENSMUSG00000063506

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

SMART Domains

Protein: ENSMUSP00000107587
Gene: ENSMUSG00000063506

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

probably benign
Transcript: ENSMUST00000140711
AA Change: M4K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,546,942 (GRCm39)	F396L	probably damaging	Het
Abca13	T	C	11: 9,240,621 (GRCm39)	I828T	possibly damaging	Het
Ace3	A	T	11: 105,896,219 (GRCm39)	T722S	probably benign	Het
Acot2	A	G	12: 84,039,426 (GRCm39)	T312A	probably benign	Het
Adra2a	A	G	19: 54,035,963 (GRCm39)	I440V	probably damaging	Het
Atp8b3	C	T	10: 80,366,821 (GRCm39)	C259Y	probably damaging	Het
Bcl2	T	A	1: 106,471,109 (GRCm39)	Y199F	probably benign	Het
Brca1	A	T	11: 101,414,520 (GRCm39)	C1205S	probably benign	Het
Col7a1	T	C	9: 108,811,396 (GRCm39)	V2743A	unknown	Het
Crybg1	A	G	10: 43,880,145 (GRCm39)		probably benign	Het
Cyp2c40	T	A	19: 39,755,808 (GRCm39)	H502L	probably benign	Het
Cyp2c40	A	T	19: 39,796,050 (GRCm39)	Y109*	probably null	Het
Cyp4a29	T	C	4: 115,106,916 (GRCm39)	M191T	probably damaging	Het
Dcaf1	A	G	9: 106,735,916 (GRCm39)	R955G	possibly damaging	Het
Dcaf4	G	T	12: 83,582,726 (GRCm39)	A274S	probably damaging	Het
Dlx1	A	G	2: 71,362,828 (GRCm39)	H245R	probably damaging	Het
Dnah14	A	G	1: 181,508,494 (GRCm39)	N1891D	possibly damaging	Het
Dock10	A	T	1: 80,479,452 (GRCm39)	V2167D	unknown	Het
Epyc	A	G	10: 97,511,697 (GRCm39)	Q230R	probably benign	Het
Etnk1	G	A	6: 143,130,310 (GRCm39)	R143H	probably damaging	Het
Fhip2b	T	C	14: 70,826,479 (GRCm39)	D203G	probably benign	Het
Fmo2	T	C	1: 162,708,292 (GRCm39)	E281G	probably damaging	Het
Gm2042	T	A	12: 87,925,963 (GRCm39)	Y304N	possibly damaging	Het
Hecw2	T	C	1: 53,852,466 (GRCm39)	D1551G	probably damaging	Het
Hgd	A	T	16: 37,413,811 (GRCm39)	D91V	probably benign	Het
Hspa12a	A	G	19: 58,797,891 (GRCm39)	F276L	probably benign	Het
Ifitm10	C	T	7: 141,909,812 (GRCm39)	V95M	probably damaging	Het
Ints3	G	A	3: 90,313,579 (GRCm39)	R350*	probably null	Het
Kdm4c	T	A	4: 74,252,966 (GRCm39)	I511K	probably benign	Het
Kif27	A	G	13: 58,492,348 (GRCm39)	S264P	probably damaging	Het
L1td1	A	G	4: 98,624,899 (GRCm39)	T365A	probably benign	Het
Ltbp2	T	A	12: 84,878,648 (GRCm39)	T304S	possibly damaging	Het
Mamdc4	T	A	2: 25,455,164 (GRCm39)	Y962F	probably benign	Het
Map3k4	C	T	17: 12,489,860 (GRCm39)	A524T	probably damaging	Het
Mfsd8	C	T	3: 40,789,627 (GRCm39)	R140H	probably damaging	Het
Mmp3	A	G	9: 7,451,256 (GRCm39)	I331V	possibly damaging	Het
Mpdz	T	A	4: 81,254,043 (GRCm39)	I1030F	probably damaging	Het
Mtx1	A	T	3: 89,120,163 (GRCm39)	C62S		Het
Muc20	A	T	16: 32,615,248 (GRCm39)	V43E	possibly damaging	Het
Naa25	A	G	5: 121,577,958 (GRCm39)	E955G	probably damaging	Het
Nelfcd	A	G	2: 174,268,635 (GRCm39)	Y562C	probably damaging	Het
Nsd2	T	A	5: 34,018,493 (GRCm39)	M509K	probably benign	Het
Obscn	T	C	11: 58,918,272 (GRCm39)	T207A		Het
Or1ad1	T	A	11: 50,875,691 (GRCm39)	H54Q	possibly damaging	Het
Or4a39	C	T	2: 89,236,959 (GRCm39)	V155M	possibly damaging	Het
Or4k5	T	A	14: 50,385,672 (GRCm39)	I220L	probably benign	Het
Osbpl11	A	T	16: 33,006,283 (GRCm39)	N37I	possibly damaging	Het
Pcdh9	A	G	14: 93,797,956 (GRCm39)	S1032P	possibly damaging	Het
Pde6b	T	A	5: 108,551,241 (GRCm39)	I175N	probably damaging	Het
Pfkl	T	A	10: 77,824,184 (GRCm39)	M735L	probably benign	Het
Pkp4	T	C	2: 59,138,722 (GRCm39)	V324A	probably benign	Het
Ptprb	T	A	10: 116,155,494 (GRCm39)	C462*	probably null	Het
Rasal3	T	C	17: 32,617,910 (GRCm39)	N221S	probably benign	Het
Reep1	A	T	6: 71,684,969 (GRCm39)	I6F	probably benign	Het
Rhobtb1	T	A	10: 69,106,621 (GRCm39)	F457L	probably damaging	Het
Ryr1	T	C	7: 28,777,965 (GRCm39)	N2184S	probably benign	Het
Scn11a	T	G	9: 119,624,774 (GRCm39)	H516P	possibly damaging	Het
Sipa1l1	T	C	12: 82,404,139 (GRCm39)		probably null	Het
Slc17a7	A	G	7: 44,821,606 (GRCm39)	N381S	possibly damaging	Het
Slc38a3	C	T	9: 107,536,322 (GRCm39)	V25M	probably benign	Het
Spag1	T	G	15: 36,181,954 (GRCm39)	D37E	probably damaging	Het
Spib	G	T	7: 44,178,815 (GRCm39)	D114E	possibly damaging	Het
Tpx2	A	T	2: 152,726,933 (GRCm39)	Y400F	probably damaging	Het
Trhde	A	G	10: 114,532,014 (GRCm39)	I362T	possibly damaging	Het
Usp17ld	C	T	7: 102,899,381 (GRCm39)	G517E	probably benign	Het
Vmn1r22	A	T	6: 57,877,404 (GRCm39)	M191K	probably damaging	Het
Wdr6	G	A	9: 108,453,182 (GRCm39)	R234C	probably damaging	Het
Zdhhc22	C	T	12: 87,030,398 (GRCm39)	M183I	probably benign	Het
Zfp1007	C	A	5: 109,824,062 (GRCm39)	G463*	probably null	Het
Zfp949	C	A	9: 88,452,182 (GRCm39)	T584N	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
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
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
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'- ACTCAAAGCGCCTGATACCG -3'
(R):5'- AGGAACTATCTCGGATCCCC -3'

Sequencing Primer
(F):5'- CTCCCAGCGCTAAGAGC -3'
(R):5'- GATCCCCGACTCCCACGATATAG -3'

Posted On

2022-07-18