Mutagenetix > Incidental Mutation

Incidental Mutation 'R9056:Arhgap31'

688714

Institutional Source

Beutler Lab

Gene Symbol

Arhgap31

Ensembl Gene

ENSMUSG00000022799

Gene Name

Rho GTPase activating protein 31

Synonyms

CdGAP

MMRRC Submission

068882-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

R9056 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38418705-38533397 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38427017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 612 (T612A)

Ref Sequence

ENSEMBL: ENSMUSP00000023487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023487]

AlphaFold

A6X8Z5

Predicted Effect

probably benign
Transcript: ENSMUST00000023487
AA Change: T612A

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

SMART Domains

Protein: ENSMUSP00000023487
Gene: ENSMUSG00000022799
AA Change: T612A

Domain	Start	End	E-Value	Type
RhoGAP	32	213	1.04e-60	SMART
low complexity region	291	303	N/A	INTRINSIC
low complexity region	503	522	N/A	INTRINSIC
low complexity region	670	683	N/A	INTRINSIC
low complexity region	722	733	N/A	INTRINSIC
low complexity region	766	786	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,414,921 (GRCm39)	I3996T	probably damaging	Het
Adgra1	A	G	7: 139,432,492 (GRCm39)	N110S	probably damaging	Het
Atp13a4	C	T	16: 29,290,706 (GRCm39)		probably null	Het
C1rb	T	C	6: 124,553,984 (GRCm39)	S352P	probably damaging	Het
Cc2d2b	T	C	19: 40,784,216 (GRCm39)	I671T	unknown	Het
Cmas	A	G	6: 142,710,105 (GRCm39)	D116G	probably damaging	Het
Col24a1	T	C	3: 145,021,009 (GRCm39)	V460A	probably damaging	Het
Cracdl	G	A	1: 37,663,553 (GRCm39)	R782C	possibly damaging	Het
Cubn	T	G	2: 13,461,466 (GRCm39)	D687A	probably damaging	Het
Cul9	A	C	17: 46,854,696 (GRCm39)	V2G	probably damaging	Het
Elp3	T	C	14: 65,797,582 (GRCm39)	Y382C	probably damaging	Het
Fbxo11	A	T	17: 88,310,249 (GRCm39)	I443K		Het
Fdps	G	A	3: 89,006,639 (GRCm39)	R84W	probably benign	Het
Helz	C	T	11: 107,547,019 (GRCm39)	A1112V	possibly damaging	Het
Herc1	T	A	9: 66,380,782 (GRCm39)	M3553K	probably benign	Het
Hspa12a	T	C	19: 58,813,720 (GRCm39)	Y135C	probably damaging	Het
Hspa1l	A	G	17: 35,196,849 (GRCm39)	Y296C	probably benign	Het
Ifna12	T	G	4: 88,521,079 (GRCm39)	E156A	possibly damaging	Het
Ilf3	C	T	9: 21,314,434 (GRCm39)	Q689*	probably null	Het
Ints1	A	G	5: 139,760,041 (GRCm39)		probably null	Het
Itga8	T	A	2: 12,235,019 (GRCm39)	D413V	possibly damaging	Het
Kcnd3	C	T	3: 105,574,290 (GRCm39)	L492F	possibly damaging	Het
Kcnh5	T	C	12: 74,944,774 (GRCm39)	K825R	probably benign	Het
Kcnma1	A	G	14: 23,700,214 (GRCm39)	I194T	possibly damaging	Het
Kmo	A	G	1: 175,465,108 (GRCm39)	R30G	probably damaging	Het
Krtap19-4	C	A	16: 88,681,801 (GRCm39)	G52C	unknown	Het
Ksr1	A	G	11: 78,918,465 (GRCm39)	V563A	possibly damaging	Het
Lyn	A	T	4: 3,780,925 (GRCm39)	M355L	possibly damaging	Het
Med13	A	T	11: 86,189,660 (GRCm39)	L1083*	probably null	Het
Mfsd13a	A	G	19: 46,354,900 (GRCm39)	T26A	probably benign	Het
Mup14	T	C	4: 61,259,430 (GRCm39)	I41V	probably benign	Het
Myo9b	T	A	8: 71,804,906 (GRCm39)	S1466T	probably benign	Het
Nampt	T	C	12: 32,888,458 (GRCm39)		probably null	Het
Nbeal1	T	C	1: 60,317,885 (GRCm39)	Y1941H	probably damaging	Het
Nyap2	C	T	1: 81,314,314 (GRCm39)	A670V	probably benign	Het
Or10h28	A	G	17: 33,487,794 (GRCm39)	Y32C	probably damaging	Het
Or2aj6	A	G	16: 19,443,791 (GRCm39)	S20P	probably benign	Het
Or4k44	T	C	2: 111,368,488 (GRCm39)	I49V	probably benign	Het
Or4m1	T	C	14: 50,557,999 (GRCm39)	I98V	probably damaging	Het
Or8g31-ps1	T	C	9: 39,276,416 (GRCm39)	V187A	unknown	Het
Pcdh15	A	G	10: 74,221,731 (GRCm39)	D677G	probably damaging	Het
Pogz	T	A	3: 94,787,530 (GRCm39)	S1373T	probably benign	Het
Ptprj	T	C	2: 90,288,613 (GRCm39)	D691G	probably benign	Het
Qpctl	T	A	7: 18,880,961 (GRCm39)	D157V	probably damaging	Het
Rbbp8	T	C	18: 11,810,677 (GRCm39)	F60L	possibly damaging	Het
Ripor1	T	A	8: 106,344,072 (GRCm39)	L402Q	possibly damaging	Het
Rptn	C	T	3: 93,304,412 (GRCm39)	H582Y	probably benign	Het
Rusc1	T	A	3: 88,996,990 (GRCm39)	Q611L	probably damaging	Het
Ryr2	A	G	13: 11,610,817 (GRCm39)	V4003A	possibly damaging	Het
Siglech	T	A	7: 55,422,294 (GRCm39)	W300R	probably benign	Het
Slc25a51	T	C	4: 45,399,494 (GRCm39)	D232G	probably damaging	Het
Slc6a11	T	A	6: 114,220,905 (GRCm39)	C479S	probably benign	Het
Spata31h1	T	C	10: 82,127,101 (GRCm39)	T1970A	probably benign	Het
Sspo	G	T	6: 48,450,608 (GRCm39)	G2599V	probably damaging	Het
Tfpt	T	A	7: 3,627,604 (GRCm39)	E116V	probably null	Het
Tmem260	T	A	14: 48,717,774 (GRCm39)	V121E	probably benign	Het
Tmem54	T	C	4: 129,002,120 (GRCm39)	F45L	probably benign	Het
Trim2	T	A	3: 84,080,128 (GRCm39)	N631I	probably damaging	Het
Tshr	C	T	12: 91,474,563 (GRCm39)	T179I	probably damaging	Het
Vmn1r40	A	G	6: 89,691,198 (GRCm39)	N5S	probably benign	Het
Vmn2r68	A	G	7: 84,871,420 (GRCm39)	V621A	possibly damaging	Het
Zc2hc1c	TTTATCC	T	12: 85,343,230 (GRCm39)		probably benign	Het
Zfp644	G	A	5: 106,783,944 (GRCm39)	Q837*	probably null	Het
Zfp773	A	T	7: 7,135,989 (GRCm39)	N202K	probably damaging	Het

Other mutations in Arhgap31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00741:Arhgap31	APN	16	38,423,363 (GRCm39)	missense	probably damaging	1.00
IGL01062:Arhgap31	APN	16	38,421,818 (GRCm39)	missense	probably damaging	1.00
IGL01152:Arhgap31	APN	16	38,422,601 (GRCm39)	missense	possibly damaging	0.49
IGL01680:Arhgap31	APN	16	38,423,976 (GRCm39)	missense	probably benign	0.04
IGL01739:Arhgap31	APN	16	38,423,793 (GRCm39)	missense	probably benign
IGL01870:Arhgap31	APN	16	38,438,604 (GRCm39)	missense	probably damaging	1.00
IGL01936:Arhgap31	APN	16	38,423,287 (GRCm39)	missense	probably damaging	1.00
IGL01981:Arhgap31	APN	16	38,421,935 (GRCm39)	missense	probably damaging	1.00
IGL01983:Arhgap31	APN	16	38,422,127 (GRCm39)	missense	probably damaging	1.00
IGL02157:Arhgap31	APN	16	38,444,263 (GRCm39)	missense	probably damaging	1.00
IGL02629:Arhgap31	APN	16	38,429,526 (GRCm39)	missense	probably benign	0.00
IGL03375:Arhgap31	APN	16	38,423,190 (GRCm39)	missense	probably damaging	1.00
PIT4283001:Arhgap31	UTSW	16	38,429,354 (GRCm39)	missense	probably damaging	1.00
R0271:Arhgap31	UTSW	16	38,422,872 (GRCm39)	missense	possibly damaging	0.61
R1325:Arhgap31	UTSW	16	38,423,304 (GRCm39)	missense	probably benign	0.00
R1753:Arhgap31	UTSW	16	38,421,974 (GRCm39)	missense	possibly damaging	0.92
R1766:Arhgap31	UTSW	16	38,445,952 (GRCm39)	missense	probably damaging	1.00
R1834:Arhgap31	UTSW	16	38,424,065 (GRCm39)	missense	probably benign	0.02
R2104:Arhgap31	UTSW	16	38,445,941 (GRCm39)	missense	probably benign	0.03
R2261:Arhgap31	UTSW	16	38,429,639 (GRCm39)	missense	probably damaging	1.00
R3011:Arhgap31	UTSW	16	38,422,269 (GRCm39)	missense	possibly damaging	0.58
R3712:Arhgap31	UTSW	16	38,422,895 (GRCm39)	missense	possibly damaging	0.91
R3757:Arhgap31	UTSW	16	38,457,362 (GRCm39)	missense	probably damaging	1.00
R3953:Arhgap31	UTSW	16	38,423,826 (GRCm39)	missense	probably benign	0.00
R4105:Arhgap31	UTSW	16	38,422,788 (GRCm39)	missense	probably damaging	1.00
R4107:Arhgap31	UTSW	16	38,422,788 (GRCm39)	missense	probably damaging	1.00
R4108:Arhgap31	UTSW	16	38,422,788 (GRCm39)	missense	probably damaging	1.00
R4109:Arhgap31	UTSW	16	38,422,788 (GRCm39)	missense	probably damaging	1.00
R4198:Arhgap31	UTSW	16	38,444,275 (GRCm39)	missense	probably damaging	1.00
R4200:Arhgap31	UTSW	16	38,444,275 (GRCm39)	missense	probably damaging	1.00
R4273:Arhgap31	UTSW	16	38,422,697 (GRCm39)	missense	possibly damaging	0.92
R5020:Arhgap31	UTSW	16	38,423,438 (GRCm39)	missense	probably damaging	1.00
R5100:Arhgap31	UTSW	16	38,421,821 (GRCm39)	missense	probably damaging	1.00
R6516:Arhgap31	UTSW	16	38,429,766 (GRCm39)	missense	possibly damaging	0.47
R6879:Arhgap31	UTSW	16	38,422,676 (GRCm39)	missense	probably benign
R7341:Arhgap31	UTSW	16	38,532,876 (GRCm39)	splice site	probably null
R7880:Arhgap31	UTSW	16	38,423,087 (GRCm39)	missense	probably benign	0.37
R7884:Arhgap31	UTSW	16	38,422,593 (GRCm39)	missense	probably damaging	0.97
R8156:Arhgap31	UTSW	16	38,445,991 (GRCm39)	missense	probably damaging	1.00
R8223:Arhgap31	UTSW	16	38,424,084 (GRCm39)	missense	probably benign	0.21
R8413:Arhgap31	UTSW	16	38,423,283 (GRCm39)	missense	possibly damaging	0.76
R8545:Arhgap31	UTSW	16	38,423,408 (GRCm39)	missense	probably damaging	0.98
R8679:Arhgap31	UTSW	16	38,422,966 (GRCm39)	missense	probably damaging	0.97
R8721:Arhgap31	UTSW	16	38,427,058 (GRCm39)	missense	probably benign
R8815:Arhgap31	UTSW	16	38,429,790 (GRCm39)	missense	probably benign
R9077:Arhgap31	UTSW	16	38,422,730 (GRCm39)	missense	probably damaging	0.98
R9251:Arhgap31	UTSW	16	38,423,218 (GRCm39)	missense	probably benign
R9382:Arhgap31	UTSW	16	38,422,988 (GRCm39)	missense	probably benign	0.14
R9500:Arhgap31	UTSW	16	38,460,683 (GRCm39)	missense	probably damaging	1.00
R9544:Arhgap31	UTSW	16	38,423,976 (GRCm39)	missense	probably damaging	0.99
X0063:Arhgap31	UTSW	16	38,422,760 (GRCm39)	missense	probably damaging	0.99
Z1176:Arhgap31	UTSW	16	38,444,255 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CACATGCAGCTGTGATTACAC -3'
(R):5'- CTAAGAAGGCAGCTACCGAG -3'

Sequencing Primer
(F):5'- CTCTTGCAGAAACCtttgt -3'
(R):5'- AGAACCTGAAGTCCCGGG -3'

Posted On

2021-11-19