Mutagenetix > Incidental Mutation

Incidental Mutation 'R4304:Arhgef5'

322534

Institutional Source

Beutler Lab

Gene Symbol

Arhgef5

Ensembl Gene

ENSMUSG00000033542

Gene Name

Rho guanine nucleotide exchange factor 5

Synonyms

2210412D05Rik

MMRRC Submission

040865-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4304 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43242578-43266254 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43256432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1180 (A1180V)

Ref Sequence

ENSEMBL: ENSMUSP00000031750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031750]

AlphaFold

E9Q7D5

Predicted Effect

probably damaging
Transcript: ENSMUST00000031750
AA Change: A1180V

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

SMART Domains

Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: A1180V

Domain	Start	End	E-Value	Type
Pfam:ARHGEF5_35	1	477	3.1e-220	PFAM
low complexity region	509	531	N/A	INTRINSIC
low complexity region	812	825	N/A	INTRINSIC
low complexity region	827	851	N/A	INTRINSIC
RhoGEF	1162	1341	2.97e-57	SMART
PH	1375	1488	1.11e-6	SMART
SH3	1497	1554	6.39e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182190

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182752

Predicted Effect

unknown
Transcript: ENSMUST00000182924
AA Change: A448V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183313

Meta Mutation Damage Score

0.1309

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased Th2 response in an ovalbumin-induced asthma model. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 25,391,545 (GRCm39)	M323K	probably damaging	Het
Arhgap42	A	G	9: 9,006,489 (GRCm39)	S636P	probably benign	Het
Cep152	G	A	2: 125,405,643 (GRCm39)	Q1630*	probably null	Het
Cfap157	G	A	2: 32,669,054 (GRCm39)	R350W	probably damaging	Het
Cfap47	C	G	X: 78,541,635 (GRCm39)	K469N	probably damaging	Het
Csgalnact1	A	T	8: 68,825,294 (GRCm39)	V400D	possibly damaging	Het
Fam3d	G	A	14: 8,349,324 (GRCm38)	P209S	probably damaging	Het
Fig4	T	A	10: 41,132,423 (GRCm39)	D461V	probably benign	Het
Frmd4a	C	T	2: 4,337,889 (GRCm39)	R32C	probably benign	Het
Gcfc2	G	A	6: 81,919,988 (GRCm39)	R397Q	probably damaging	Het
Gm20939	A	C	17: 95,184,709 (GRCm39)	Q452H	probably benign	Het
Gm5592	A	T	7: 40,935,686 (GRCm39)	M63L	probably benign	Het
H2-M3	T	C	17: 37,583,295 (GRCm39)	M252T	probably benign	Het
Lsm14a	C	A	7: 34,056,858 (GRCm39)		probably null	Het
Map4k4	T	C	1: 40,013,132 (GRCm39)	Y76H	possibly damaging	Het
Npc1	C	T	18: 12,343,584 (GRCm39)	A470T	possibly damaging	Het
Or4a68	A	T	2: 89,270,542 (GRCm39)	V27D	probably damaging	Het
Prr27	A	G	5: 87,990,766 (GRCm39)	H126R	probably benign	Het
Resf1	C	T	6: 149,227,736 (GRCm39)	Q261*	probably null	Het
Rptn	C	A	3: 93,304,238 (GRCm39)	H524N	probably benign	Het
Slc4a11	A	T	2: 130,530,058 (GRCm39)	M240K	probably benign	Het
Smg1	T	C	7: 117,738,741 (GRCm39)	I3503V	probably benign	Het
Snx13	A	G	12: 35,172,941 (GRCm39)	K625E	probably benign	Het
Stk10	T	C	11: 32,560,634 (GRCm39)	V663A	probably damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tpp1	T	A	7: 105,399,516 (GRCm39)	D84V	possibly damaging	Het
Vmn1r238	T	A	18: 3,123,040 (GRCm39)	R125*	probably null	Het
Vmn2r12	A	G	5: 109,233,872 (GRCm39)	L780P	probably damaging	Het
Wfdc15b	A	C	2: 164,057,388 (GRCm39)	M1R	probably null	Het
Wnk2	C	T	13: 49,244,313 (GRCm39)	D508N	probably damaging	Het

Other mutations in Arhgef5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Arhgef5	APN	6	43,257,203 (GRCm39)	nonsense	probably null
IGL01341:Arhgef5	APN	6	43,260,925 (GRCm39)	missense	probably damaging	1.00
IGL01576:Arhgef5	APN	6	43,250,962 (GRCm39)	missense	probably benign	0.38
IGL01761:Arhgef5	APN	6	43,251,538 (GRCm39)	missense	probably benign	0.00
IGL02104:Arhgef5	APN	6	43,249,345 (GRCm39)	missense	probably damaging	0.99
IGL02208:Arhgef5	APN	6	43,252,064 (GRCm39)	missense	probably benign	0.11
IGL02487:Arhgef5	APN	6	43,260,916 (GRCm39)	missense	probably damaging	1.00
IGL02650:Arhgef5	APN	6	43,249,869 (GRCm39)	nonsense	probably null
IGL03292:Arhgef5	APN	6	43,257,180 (GRCm39)	missense	probably damaging	1.00
IGL03334:Arhgef5	APN	6	43,250,934 (GRCm39)	missense	possibly damaging	0.47
IGL03341:Arhgef5	APN	6	43,257,585 (GRCm39)	missense	probably damaging	0.99
R0047:Arhgef5	UTSW	6	43,242,555 (GRCm39)	splice site	probably null
R0206:Arhgef5	UTSW	6	43,250,275 (GRCm39)	missense	probably damaging	1.00
R0208:Arhgef5	UTSW	6	43,250,275 (GRCm39)	missense	probably damaging	1.00
R0698:Arhgef5	UTSW	6	43,250,275 (GRCm39)	missense	probably damaging	1.00
R1145:Arhgef5	UTSW	6	43,250,022 (GRCm39)	missense	possibly damaging	0.92
R1145:Arhgef5	UTSW	6	43,250,022 (GRCm39)	missense	possibly damaging	0.92
R1168:Arhgef5	UTSW	6	43,250,330 (GRCm39)	missense	probably benign	0.00
R1355:Arhgef5	UTSW	6	43,260,846 (GRCm39)	missense	probably damaging	1.00
R1370:Arhgef5	UTSW	6	43,260,846 (GRCm39)	missense	probably damaging	1.00
R1481:Arhgef5	UTSW	6	43,251,568 (GRCm39)	missense	probably damaging	0.99
R1529:Arhgef5	UTSW	6	43,256,449 (GRCm39)	missense	probably damaging	0.96
R1532:Arhgef5	UTSW	6	43,250,337 (GRCm39)	missense	probably benign
R1663:Arhgef5	UTSW	6	43,253,899 (GRCm39)	missense	probably damaging	1.00
R1742:Arhgef5	UTSW	6	43,257,133 (GRCm39)	missense	probably damaging	1.00
R1852:Arhgef5	UTSW	6	43,252,119 (GRCm39)	missense	probably benign	0.00
R1869:Arhgef5	UTSW	6	43,265,616 (GRCm39)	missense	probably damaging	1.00
R1880:Arhgef5	UTSW	6	43,250,022 (GRCm39)	missense	possibly damaging	0.92
R2146:Arhgef5	UTSW	6	43,260,252 (GRCm39)	missense	probably damaging	1.00
R2169:Arhgef5	UTSW	6	43,251,354 (GRCm39)	missense	probably benign	0.11
R3412:Arhgef5	UTSW	6	43,250,724 (GRCm39)	missense	probably benign
R4205:Arhgef5	UTSW	6	43,250,766 (GRCm39)	missense	possibly damaging	0.76
R4226:Arhgef5	UTSW	6	43,256,432 (GRCm39)	missense	probably damaging	1.00
R4227:Arhgef5	UTSW	6	43,256,432 (GRCm39)	missense	probably damaging	1.00
R4308:Arhgef5	UTSW	6	43,256,432 (GRCm39)	missense	probably damaging	1.00
R4457:Arhgef5	UTSW	6	43,251,027 (GRCm39)	missense	probably damaging	1.00
R4469:Arhgef5	UTSW	6	43,252,033 (GRCm39)	missense	probably benign
R4636:Arhgef5	UTSW	6	43,251,876 (GRCm39)	missense	probably benign	0.11
R4791:Arhgef5	UTSW	6	43,260,117 (GRCm39)	missense	probably damaging	1.00
R4818:Arhgef5	UTSW	6	43,250,484 (GRCm39)	missense	probably benign	0.00
R4910:Arhgef5	UTSW	6	43,249,762 (GRCm39)	missense	probably benign	0.01
R4911:Arhgef5	UTSW	6	43,249,762 (GRCm39)	missense	probably benign	0.01
R5127:Arhgef5	UTSW	6	43,250,148 (GRCm39)	missense	probably damaging	0.99
R5209:Arhgef5	UTSW	6	43,250,634 (GRCm39)	missense	probably benign	0.01
R5245:Arhgef5	UTSW	6	43,242,614 (GRCm39)	start gained	probably benign
R5251:Arhgef5	UTSW	6	43,249,815 (GRCm39)	missense	possibly damaging	0.76
R5513:Arhgef5	UTSW	6	43,249,273 (GRCm39)	missense	probably damaging	0.96
R5613:Arhgef5	UTSW	6	43,250,997 (GRCm39)	missense	probably benign	0.01
R5616:Arhgef5	UTSW	6	43,252,874 (GRCm39)	missense	probably benign	0.20
R5817:Arhgef5	UTSW	6	43,252,038 (GRCm39)	missense	probably benign	0.15
R6024:Arhgef5	UTSW	6	43,252,068 (GRCm39)	missense	probably benign	0.00
R6735:Arhgef5	UTSW	6	43,251,966 (GRCm39)	missense	probably benign	0.01
R6825:Arhgef5	UTSW	6	43,251,895 (GRCm39)	missense	probably damaging	0.99
R6831:Arhgef5	UTSW	6	43,257,933 (GRCm39)	missense	probably damaging	1.00
R6901:Arhgef5	UTSW	6	43,250,232 (GRCm39)	missense	probably benign	0.00
R6932:Arhgef5	UTSW	6	43,251,351 (GRCm39)	missense	possibly damaging	0.94
R6968:Arhgef5	UTSW	6	43,252,276 (GRCm39)	missense	probably benign	0.00
R7018:Arhgef5	UTSW	6	43,265,665 (GRCm39)	missense	probably damaging	1.00
R7180:Arhgef5	UTSW	6	43,252,142 (GRCm39)	missense	possibly damaging	0.87
R7201:Arhgef5	UTSW	6	43,250,166 (GRCm39)	nonsense	probably null
R7358:Arhgef5	UTSW	6	43,256,507 (GRCm39)	missense	probably damaging	1.00
R7359:Arhgef5	UTSW	6	43,257,216 (GRCm39)	missense	probably damaging	1.00
R7468:Arhgef5	UTSW	6	43,257,605 (GRCm39)	nonsense	probably null
R7503:Arhgef5	UTSW	6	43,250,933 (GRCm39)	missense	probably benign	0.15
R7699:Arhgef5	UTSW	6	43,251,691 (GRCm39)	missense	probably benign	0.11
R7700:Arhgef5	UTSW	6	43,251,691 (GRCm39)	missense	probably benign	0.11
R7737:Arhgef5	UTSW	6	43,250,728 (GRCm39)	missense	possibly damaging	0.84
R7847:Arhgef5	UTSW	6	43,252,069 (GRCm39)	nonsense	probably null
R7950:Arhgef5	UTSW	6	43,250,859 (GRCm39)	missense	possibly damaging	0.76
R8161:Arhgef5	UTSW	6	43,260,885 (GRCm39)	missense	probably damaging	1.00
R8178:Arhgef5	UTSW	6	43,252,119 (GRCm39)	missense	probably benign	0.00
R8203:Arhgef5	UTSW	6	43,257,579 (GRCm39)	missense	probably damaging	1.00
R8318:Arhgef5	UTSW	6	43,252,933 (GRCm39)	critical splice donor site	probably null
R8857:Arhgef5	UTSW	6	43,264,558 (GRCm39)	missense	probably damaging	1.00
R9499:Arhgef5	UTSW	6	43,260,940 (GRCm39)	missense
R9610:Arhgef5	UTSW	6	43,257,890 (GRCm39)	missense	probably damaging	0.99
R9611:Arhgef5	UTSW	6	43,257,890 (GRCm39)	missense	probably damaging	0.99
R9623:Arhgef5	UTSW	6	43,251,736 (GRCm39)	missense	possibly damaging	0.86
R9685:Arhgef5	UTSW	6	43,250,527 (GRCm39)	missense	probably benign	0.11
RF023:Arhgef5	UTSW	6	43,256,407 (GRCm39)	missense	probably damaging	1.00
X0028:Arhgef5	UTSW	6	43,250,635 (GRCm39)	missense	probably benign	0.03
X0065:Arhgef5	UTSW	6	43,249,342 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CCCTAAGTTGACTCTGGCATAC -3'
(R):5'- AGCTGCAATCTCAATGGCTAAG -3'

Sequencing Primer
(F):5'- GGCATACTCAAATACTCCTTGTG -3'
(R):5'- TGCAATCTCAATGGCTAAGCACAG -3'

Posted On

2015-06-20