Mutagenetix > Incidental Mutation

Incidental Mutation 'R0961:Arhgap22'

81896

Institutional Source

Beutler Lab

Gene Symbol

Arhgap22

Ensembl Gene

ENSMUSG00000063506

Gene Name

Rho GTPase activating protein 22

Synonyms

RHOGAP2, B230341L19Rik

MMRRC Submission

039090-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0961 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

32935983-33091891 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33089070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 352 (T352M)

Ref Sequence

ENSEMBL: ENSMUSP00000107586 (fasta)

Gene Model

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

AlphaFold

Q8BL80

Predicted Effect

probably damaging
Transcript: ENSMUST00000111955
AA Change: T352M

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107586
Gene: ENSMUSG00000063506
AA Change: T352M

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: T517M

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000107587
Gene: ENSMUSG00000063506
AA Change: T517M

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 95.6%
20x: 89.7%

Validation Efficiency

100% (60/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	C	2: 151,314,686 (GRCm39)	S331A	probably benign	Het
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4933412E24Rik	T	C	15: 59,887,160 (GRCm39)	I427V	probably benign	Het
Abca15	A	T	7: 119,960,208 (GRCm39)	K664*	probably null	Het
Adcy8	A	G	15: 64,626,711 (GRCm39)	V709A	possibly damaging	Het
Aox1	T	A	1: 58,349,230 (GRCm39)	D665E	probably benign	Het
Atg9a	G	A	1: 75,163,390 (GRCm39)	L237F	probably damaging	Het
Ccdc178	T	G	18: 22,152,098 (GRCm39)	K672T	possibly damaging	Het
Ccdc63	T	G	5: 122,249,009 (GRCm39)	K440T	possibly damaging	Het
Cd55b	A	T	1: 130,341,813 (GRCm39)	W275R	probably damaging	Het
Col4a3	T	C	1: 82,686,297 (GRCm39)		probably benign	Het
Dmpk	C	G	7: 18,821,195 (GRCm39)	D204E	probably damaging	Het
Egfr	T	C	11: 16,812,964 (GRCm39)	V148A	probably damaging	Het
F11	A	T	8: 45,694,531 (GRCm39)	V610E	probably damaging	Het
Fam83b	A	T	9: 76,398,577 (GRCm39)	I842N	probably damaging	Het
Fbxw9	T	C	8: 85,788,658 (GRCm39)	Y165H	probably benign	Het
Fzd6	C	T	15: 38,889,073 (GRCm39)	L64F	probably damaging	Het
Galntl6	A	T	8: 59,364,374 (GRCm39)	H45Q	probably benign	Het
Gbp7	C	A	3: 142,247,318 (GRCm39)	S276*	probably null	Het
Gnb5	A	T	9: 75,242,933 (GRCm39)	I168F	probably damaging	Het
Gon4l	T	C	3: 88,805,403 (GRCm39)		probably benign	Het
Gpat4	C	T	8: 23,670,927 (GRCm39)	C95Y	probably damaging	Het
Gstm7	T	A	3: 107,834,302 (GRCm39)		probably benign	Het
Hyal4	A	G	6: 24,755,745 (GRCm39)		probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kank4	G	A	4: 98,644,756 (GRCm39)	R999W	probably benign	Het
Kdm2a	A	G	19: 4,379,219 (GRCm39)	V92A	probably benign	Het
Klhl9	T	C	4: 88,639,974 (GRCm39)	D89G	probably benign	Het
Klre1	A	G	6: 129,559,378 (GRCm39)	T103A	probably benign	Het
Lamc1	CGCTGGC	CGC	1: 153,097,392 (GRCm39)		probably null	Het
Lamc1	G	T	1: 153,097,446 (GRCm39)	L1533I	probably benign	Het
Lca5l	T	C	16: 95,962,560 (GRCm39)	H455R	possibly damaging	Het
Lmo7	C	A	14: 102,031,705 (GRCm39)	T33K	probably benign	Het
Lrig1	A	G	6: 94,640,895 (GRCm39)		probably benign	Het
Mep1b	T	A	18: 21,221,786 (GRCm39)	Y245*	probably null	Het
Mettl24	A	G	10: 40,686,615 (GRCm39)	T331A	possibly damaging	Het
Mycbp2	A	C	14: 103,422,271 (GRCm39)	D2467E	probably damaging	Het
Myo15b	T	C	11: 115,773,280 (GRCm39)	S1871P	probably benign	Het
Ncbp1	T	C	4: 46,165,193 (GRCm39)	L502P	possibly damaging	Het
Npr1	T	C	3: 90,366,028 (GRCm39)	N588D	possibly damaging	Het
Or2g7	T	A	17: 38,378,814 (GRCm39)	Y251N	probably damaging	Het
Or8k16	A	T	2: 85,519,790 (GRCm39)	T6S	probably benign	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Phactr4	A	G	4: 132,105,731 (GRCm39)	S112P	probably benign	Het
R3hdm1	C	T	1: 128,121,333 (GRCm39)	T279I	probably benign	Het
Rere	A	G	4: 150,699,829 (GRCm39)		probably benign	Het
Ryr1	T	A	7: 28,709,122 (GRCm39)	E4779V	unknown	Het
Sh2d4b	A	G	14: 40,596,139 (GRCm39)	V81A	probably benign	Het
Slc10a5	T	C	3: 10,399,484 (GRCm39)	H392R	probably benign	Het
Slc26a4	T	C	12: 31,585,618 (GRCm39)	T477A	probably benign	Het
Spata31d1b	T	C	13: 59,865,618 (GRCm39)	V922A	possibly damaging	Het
Sptan1	T	A	2: 29,870,075 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,523,920 (GRCm39)	D705G	probably benign	Het
Tdpoz3	T	A	3: 93,734,188 (GRCm39)	S288T	probably benign	Het
Tsga10	A	G	1: 37,800,509 (GRCm39)		probably null	Het
Usp18	G	A	6: 121,238,452 (GRCm39)	A200T	probably benign	Het
Zfp759	A	T	13: 67,287,927 (GRCm39)	T493S	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
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'- CATAAACGGGCTATCGTCTCTTCGC -3'
(R):5'- AGTCCTCTGCTGACACAACTCTGC -3'

Sequencing Primer
(F):5'- ATCGTCTCTTCGCAGCCAC -3'
(R):5'- ATGGCTCATCCAGGCTGTG -3'

Posted On

2013-11-08