Mutagenetix > Incidental Mutation

Incidental Mutation 'R5705:Arhgap4'

451950

Institutional Source

Beutler Lab

Gene Symbol

Arhgap4

Ensembl Gene

ENSMUSG00000031389

Gene Name

Rho GTPase activating protein 4

Synonyms

c1, Rgc1, A530015A20Rik, A130009C12Rik

MMRRC Submission

043330-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R5705 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

72937958-72954945 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72950423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 43 (R43W)

Ref Sequence

ENSEMBL: ENSMUSP00000117602 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064376] [ENSMUST00000114404] [ENSMUST00000114405] [ENSMUST00000114406] [ENSMUST00000114407] [ENSMUST00000123283] [ENSMUST00000124798] [ENSMUST00000130976] [ENSMUST00000140393]

AlphaFold

B1AUY3

Predicted Effect

probably damaging
Transcript: ENSMUST00000064376
AA Change: R43W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067477
Gene: ENSMUSG00000031389
AA Change: R43W

Domain	Start	End	E-Value	Type
FCH	22	125	5.81e-21	SMART
coiled coil region	144	172	N/A	INTRINSIC
low complexity region	203	218	N/A	INTRINSIC
low complexity region	316	323	N/A	INTRINSIC
low complexity region	392	402	N/A	INTRINSIC
low complexity region	419	430	N/A	INTRINSIC
low complexity region	433	449	N/A	INTRINSIC
RhoGAP	529	703	4.11e-59	SMART
SH3	760	815	4.28e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114404
AA Change: R43W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110046
Gene: ENSMUSG00000031389
AA Change: R43W

Domain	Start	End	E-Value	Type
FCH	22	125	5.81e-21	SMART
coiled coil region	144	172	N/A	INTRINSIC
low complexity region	203	218	N/A	INTRINSIC
low complexity region	316	323	N/A	INTRINSIC
low complexity region	392	402	N/A	INTRINSIC
low complexity region	419	430	N/A	INTRINSIC
low complexity region	433	449	N/A	INTRINSIC
RhoGAP	529	692	7.02e-44	SMART
SH3	749	804	4.28e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114405
AA Change: R43W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110047
Gene: ENSMUSG00000031389
AA Change: R43W

Domain	Start	End	E-Value	Type
FCH	22	125	5.81e-21	SMART
low complexity region	150	166	N/A	INTRINSIC
low complexity region	213	228	N/A	INTRINSIC
low complexity region	326	333	N/A	INTRINSIC
low complexity region	402	412	N/A	INTRINSIC
low complexity region	429	440	N/A	INTRINSIC
low complexity region	443	459	N/A	INTRINSIC
RhoGAP	539	713	4.11e-59	SMART
SH3	770	825	4.28e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114406
AA Change: R43W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110048
Gene: ENSMUSG00000031389
AA Change: R43W

Domain	Start	End	E-Value	Type
FCH	22	125	5.81e-21	SMART
coiled coil region	149	172	N/A	INTRINSIC
low complexity region	204	214	N/A	INTRINSIC
low complexity region	231	242	N/A	INTRINSIC
low complexity region	245	261	N/A	INTRINSIC
RhoGAP	341	515	4.11e-59	SMART
SH3	572	627	4.28e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114407
AA Change: R43W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110049
Gene: ENSMUSG00000031389
AA Change: R43W

Domain	Start	End	E-Value	Type
FCH	22	125	5.81e-21	SMART
low complexity region	182	197	N/A	INTRINSIC
low complexity region	295	302	N/A	INTRINSIC
low complexity region	371	381	N/A	INTRINSIC
low complexity region	398	409	N/A	INTRINSIC
low complexity region	412	428	N/A	INTRINSIC
RhoGAP	508	682	4.11e-59	SMART
SH3	739	794	4.28e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123283

Predicted Effect

probably benign
Transcript: ENSMUST00000124798

SMART Domains

Protein: ENSMUSP00000121215
Gene: ENSMUSG00000031389

Domain	Start	End	E-Value	Type
low complexity region	80	87	N/A	INTRINSIC
low complexity region	155	166	N/A	INTRINSIC
low complexity region	169	185	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127163

Predicted Effect

probably damaging
Transcript: ENSMUST00000130976
AA Change: R43W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120650
Gene: ENSMUSG00000031389
AA Change: R43W

Domain	Start	End	E-Value	Type
FCH	22	125	5.81e-21	SMART
coiled coil region	144	172	N/A	INTRINSIC
low complexity region	203	218	N/A	INTRINSIC
low complexity region	316	323	N/A	INTRINSIC
low complexity region	392	402	N/A	INTRINSIC
low complexity region	419	430	N/A	INTRINSIC
low complexity region	433	449	N/A	INTRINSIC
RhoGAP	529	703	4.11e-59	SMART
SH3	760	815	4.28e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000140393
AA Change: R43W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117602
Gene: ENSMUSG00000031389
AA Change: R43W

Domain	Start	End	E-Value	Type
FCH	22	125	5.81e-21	SMART
coiled coil region	144	172	N/A	INTRINSIC
low complexity region	203	218	N/A	INTRINSIC
low complexity region	316	323	N/A	INTRINSIC
low complexity region	392	402	N/A	INTRINSIC
low complexity region	419	430	N/A	INTRINSIC
low complexity region	433	449	N/A	INTRINSIC
coiled coil region	461	493	N/A	INTRINSIC
SCOP:d1tx4a_	513	590	3e-10	SMART
Blast:RhoGAP	529	590	3e-35	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151600

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128329

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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 rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,851,276 (GRCm39)	V2163A	probably benign	Het
Abcg3	G	A	5: 105,116,036 (GRCm39)	A266V	probably damaging	Het
Ago1	T	C	4: 126,342,587 (GRCm39)	I519V	probably benign	Het
Aurkb	T	A	11: 68,939,641 (GRCm39)	L213I	possibly damaging	Het
Bod1l	T	A	5: 41,974,345 (GRCm39)	Q2323L	probably benign	Het
Calhm5	A	T	10: 33,971,989 (GRCm39)	C149S	probably damaging	Het
Ccdc17	C	T	4: 116,454,066 (GRCm39)	T28I	probably benign	Het
Ccdc39	T	C	3: 33,871,086 (GRCm39)	E630G	probably damaging	Het
Cnih4	A	G	1: 180,981,300 (GRCm39)	I24V	probably benign	Het
Ctse	C	A	1: 131,592,112 (GRCm39)	T146K	possibly damaging	Het
Ctsr	A	G	13: 61,309,078 (GRCm39)	F226L	probably damaging	Het
Cyp2a22	T	C	7: 26,638,640 (GRCm39)	N49D	probably benign	Het
Defb23	C	T	2: 152,301,204 (GRCm39)	A123T	probably benign	Het
Dtx2	C	A	5: 136,039,149 (GRCm39)	D69E	probably damaging	Het
Eps8l1	T	C	7: 4,473,034 (GRCm39)	V91A	probably benign	Het
Eps8l3	C	A	3: 107,798,580 (GRCm39)	Q489K	probably benign	Het
Esyt3	A	G	9: 99,200,260 (GRCm39)	S645P	probably benign	Het
Fam161a	T	A	11: 22,978,869 (GRCm39)	M472K	unknown	Het
Glp2r	A	G	11: 67,600,565 (GRCm39)	V428A	probably benign	Het
Gnl1	G	A	17: 36,292,492 (GRCm39)	V191I	probably benign	Het
Hfm1	T	C	5: 107,059,319 (GRCm39)	I234M	probably benign	Het
Hlx	T	C	1: 184,463,062 (GRCm39)	T197A	probably benign	Het
Hs3st2	T	C	7: 120,992,305 (GRCm39)	L85P	probably damaging	Het
Igsf9	T	C	1: 172,322,338 (GRCm39)	V511A	possibly damaging	Het
Insyn2b	A	G	11: 34,354,349 (GRCm39)	Y473C	probably damaging	Het
Kcnma1	A	T	14: 24,053,839 (GRCm39)	C54S	possibly damaging	Het
Klhdc4	A	G	8: 122,531,732 (GRCm39)	V181A	probably benign	Het
Ldb3	T	C	14: 34,298,986 (GRCm39)	M213V	probably null	Het
Mertk	C	A	2: 128,613,321 (GRCm39)	Q446K	probably benign	Het
Ndufs1	A	G	1: 63,186,317 (GRCm39)	V46A	probably benign	Het
Neurod4	A	G	10: 130,107,271 (GRCm39)	M1T	probably null	Het
Nlrc5	T	A	8: 95,202,385 (GRCm39)	C162S	probably benign	Het
Pald1	A	G	10: 61,159,076 (GRCm39)	I785T	possibly damaging	Het
Pcmt1	T	C	10: 7,513,954 (GRCm39)	I224M	possibly damaging	Het
Pisd	C	T	5: 32,894,707 (GRCm39)	R533H	probably benign	Het
Plcxd3	C	A	15: 4,546,676 (GRCm39)	Q227K	probably benign	Het
Polr1b	A	T	2: 128,947,271 (GRCm39)	K199*	probably null	Het
Ppp1r10	T	C	17: 36,240,381 (GRCm39)	V557A	probably damaging	Het
Ralgapa2	A	G	2: 146,291,193 (GRCm39)	Y248H	probably damaging	Het
Rsrp1	T	C	4: 134,651,331 (GRCm39)	S32P	unknown	Het
Setdb2	T	G	14: 59,660,814 (GRCm39)	S110R	possibly damaging	Het
Srcin1	A	G	11: 97,439,777 (GRCm39)	C152R	probably benign	Het
Syk	A	G	13: 52,765,083 (GRCm39)	N70S	probably benign	Het
Tlr4	T	A	4: 66,752,217 (GRCm39)	D59E	probably damaging	Het
Tm9sf4	T	A	2: 153,024,378 (GRCm39)	I67N	probably benign	Het
Trim30b	T	A	7: 104,006,784 (GRCm39)	Y24F	probably damaging	Het
Tsga13	A	G	6: 30,876,951 (GRCm39)	S189P	probably damaging	Het
Tspan33	A	G	6: 29,717,232 (GRCm39)	D210G	probably benign	Het
Use1	G	T	8: 71,822,331 (GRCm39)	R278L	probably damaging	Het
Wwc1	T	C	11: 35,767,423 (GRCm39)	N403D	probably damaging	Het
Zfp263	C	T	16: 3,564,318 (GRCm39)	P203S	probably benign	Het

Other mutations in Arhgap4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01077:Arhgap4	APN	X	72,943,699 (GRCm39)	unclassified	probably benign
IGL02868:Arhgap4	APN	X	72,944,008 (GRCm39)	missense	probably benign	0.01
R0603:Arhgap4	UTSW	X	72,950,389 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTCAGACCAAGGAGCCTAGG -3'
(R):5'- TTAGCTCAGTCAGGTGCCAG -3'

Sequencing Primer
(F):5'- CCTGCAAGGCACTACTGCTAG -3'
(R):5'- CCAGGGAGCCTTTGGTGTAGAC -3'

Posted On

2017-01-03