Mutagenetix > Incidental Mutation

Incidental Mutation 'R8128:Arhgap22'

631862

Institutional Source

Beutler Lab

Gene Symbol

Arhgap22

Ensembl Gene

ENSMUSG00000063506

Gene Name

Rho GTPase activating protein 22

Synonyms

RHOGAP2, B230341L19Rik

MMRRC Submission

067557-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8128 (G1)

Quality Score

99.0078

Status

Validated

Chromosome

Chromosomal Location

32935983-33091891 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33089042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 508 (F508I)

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: F343I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107586
Gene: ENSMUSG00000063506
AA Change: F343I

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: F508I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000107587
Gene: ENSMUSG00000063506
AA Change: F508I

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 96.6%

Validation Efficiency

98% (42/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 9,008,395 (GRCm39)	R1188G	probably damaging	Het
Abcc5	G	A	16: 20,184,473 (GRCm39)	R1036C	probably damaging	Het
Bahcc1	C	T	11: 120,163,216 (GRCm39)	Q505*	probably null	Het
Birc6	T	A	17: 74,916,253 (GRCm39)	L1723Q	probably damaging	Het
Caprin2	A	G	6: 148,784,940 (GRCm39)		probably null	Het
Cfap69	C	A	5: 5,646,034 (GRCm39)	M555I	probably benign	Het
Cgn	C	T	3: 94,676,691 (GRCm39)	A773T	probably benign	Het
Cnot7	A	G	8: 40,963,129 (GRCm39)	V15A	probably damaging	Het
Col7a1	A	G	9: 108,784,789 (GRCm39)	R206G	unknown	Het
Dscam	C	A	16: 96,602,374 (GRCm39)		probably null	Het
Eif3k	A	T	7: 28,679,742 (GRCm39)		probably benign	Het
Epn2	G	T	11: 61,413,321 (GRCm39)		probably null	Het
Fitm2	T	C	2: 163,311,568 (GRCm39)	D215G	probably benign	Het
Foxa3	A	T	7: 18,757,341 (GRCm39)	M1K	probably null	Het
Glyctk	T	C	9: 106,032,501 (GRCm39)	H504R	probably benign	Het
Grin3b	T	C	10: 79,812,944 (GRCm39)	L394P		Het
Hgh1	A	G	15: 76,254,581 (GRCm39)	Y319C	probably damaging	Het
Hk1	T	C	10: 62,117,622 (GRCm39)	T635A	probably benign	Het
Igsf3	T	A	3: 101,346,947 (GRCm39)	N627K	probably damaging	Het
Lmtk3	G	T	7: 45,443,598 (GRCm39)	M760I		Het
Lrp1b	G	A	2: 41,159,248 (GRCm39)	A1678V	probably null	Het
Lrrc8c	A	T	5: 105,755,488 (GRCm39)	N421I	probably damaging	Het
Mfsd13b	C	A	7: 120,590,495 (GRCm39)	R79S	possibly damaging	Het
Or1q1	A	T	2: 36,887,673 (GRCm39)	M284L	probably benign	Het
Or5p50	A	C	7: 107,422,632 (GRCm39)	F15V	probably damaging	Het
Pappa2	T	C	1: 158,764,234 (GRCm39)	T426A	possibly damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Pkhd1l1	A	T	15: 44,361,449 (GRCm39)	I500F	possibly damaging	Het
Polr3gl	T	A	3: 96,487,824 (GRCm39)		probably null	Het
Psmg3	A	G	5: 139,809,788 (GRCm39)	V86A	probably damaging	Het
Ptgs2	T	A	1: 149,977,099 (GRCm39)	V102E	probably damaging	Het
Rhpn1	T	C	15: 75,583,032 (GRCm39)		probably null	Het
Scand1	T	C	2: 156,153,961 (GRCm39)	D103G	probably damaging	Het
Serpinb6d	T	C	13: 33,850,383 (GRCm39)	I70T	possibly damaging	Het
Slco3a1	A	T	7: 73,934,049 (GRCm39)	S708T	probably damaging	Het
Sprr2d	G	A	3: 92,247,760 (GRCm39)	C67Y	unknown	Het
Taf2	G	A	15: 54,923,384 (GRCm39)	R298C	probably damaging	Het
Trafd1	G	T	5: 121,510,465 (GRCm39)	P567Q	possibly damaging	Het
Trim32	A	G	4: 65,531,682 (GRCm39)	N80D	probably damaging	Het
Vmn1r193	A	G	13: 22,403,113 (GRCm39)	L293S	probably damaging	Het
Vmn2r12	A	T	5: 109,239,747 (GRCm39)	M272K	possibly damaging	Het
Vmn2r90	T	A	17: 17,954,155 (GRCm39)	L773Q	probably damaging	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
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'- AGGGGTCAACTCATCCTTAGAG -3'
(R):5'- TGACACAACTCTGCCCTGAG -3'

Sequencing Primer
(F):5'- GGGTCAACTCATCCTTAGAGGTACC -3'
(R):5'- ATTGGGCTCACTGCTGC -3'

Posted On

2020-06-30