Mutagenetix > Incidental Mutation

Incidental Mutation 'R5513:Arhgef5'

440170

Institutional Source

Beutler Lab

Gene Symbol

Arhgef5

Ensembl Gene

ENSMUSG00000033542

Gene Name

Rho guanine nucleotide exchange factor 5

Synonyms

2210412D05Rik

MMRRC Submission

043073-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5513 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43242578-43266254 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43249273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 8 (Y8C)

Ref Sequence

ENSEMBL: ENSMUSP00000031750 (fasta)

Gene Model

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

AlphaFold

E9Q7D5

Predicted Effect

probably damaging
Transcript: ENSMUST00000031750
AA Change: Y8C

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: Y8C

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

probably benign
Transcript: ENSMUST00000182924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183227

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (59/61)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	T	2: 103,539,623 (GRCm39)		probably null	Het
Akr1b1	C	A	6: 34,293,581 (GRCm39)		probably benign	Het
Alppl2	T	A	1: 87,015,060 (GRCm39)	N434Y	probably benign	Het
Ampd2	A	G	3: 107,982,983 (GRCm39)	I648T	possibly damaging	Het
Ankrd11	T	C	8: 123,619,259 (GRCm39)	E1510G	probably benign	Het
Ano2	A	C	6: 126,016,285 (GRCm39)	K939N	possibly damaging	Het
Aspm	A	T	1: 139,410,136 (GRCm39)	I2609F	probably damaging	Het
Camsap2	A	T	1: 136,208,601 (GRCm39)	S964T	probably benign	Het
Cd22	C	T	7: 30,566,450 (GRCm39)	R823Q	probably damaging	Het
Cd74	T	C	18: 60,944,377 (GRCm39)	C196R	probably damaging	Het
Cfap73	A	T	5: 120,769,777 (GRCm39)	I82N	probably damaging	Het
Cidec	A	T	6: 113,405,140 (GRCm39)	Y177N	probably damaging	Het
Crb1	C	T	1: 139,164,559 (GRCm39)		probably null	Het
Cts7	T	C	13: 61,503,398 (GRCm39)	K189E	possibly damaging	Het
Cyp2c68	A	T	19: 39,691,850 (GRCm39)	Y358N	probably damaging	Het
Dab2ip	A	T	2: 35,600,266 (GRCm39)	H294L	probably benign	Het
Dnah6	T	C	6: 73,167,402 (GRCm39)	D502G	probably null	Het
Dnah8	T	A	17: 30,971,890 (GRCm39)	M2768K	probably damaging	Het
Etl4	C	A	2: 20,748,638 (GRCm39)	S405R	probably damaging	Het
Fsip2	G	T	2: 82,781,252 (GRCm39)	L19F	probably damaging	Het
Fsip2	T	A	2: 82,815,542 (GRCm39)	N3758K	possibly damaging	Het
Fsip2	C	G	2: 82,781,256 (GRCm39)	Q217E	probably benign	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Hivep2	A	T	10: 14,008,417 (GRCm39)	K1672*	probably null	Het
Igkv2-137	G	A	6: 67,532,998 (GRCm39)	G54S	possibly damaging	Het
Ints8	A	G	4: 11,248,303 (GRCm39)	V105A	possibly damaging	Het
Lrba	C	T	3: 86,449,948 (GRCm39)	S2089F	probably damaging	Het
Lrrc8b	A	G	5: 105,633,850 (GRCm39)	K774R	probably damaging	Het
Mcm4	T	A	16: 15,448,378 (GRCm39)	Y393F	probably benign	Het
Mki67	A	G	7: 135,309,479 (GRCm39)	L324P	probably damaging	Het
Or4d6	A	G	19: 12,086,745 (GRCm39)	L55P	probably damaging	Het
Or52n3	A	T	7: 104,530,706 (GRCm39)	H264L	probably damaging	Het
Or5a3	G	A	19: 12,400,047 (GRCm39)	V125I	probably benign	Het
Or9s13	T	C	1: 92,548,102 (GRCm39)	V158A	probably benign	Het
Pld4	A	G	12: 112,728,988 (GRCm39)	E19G	probably benign	Het
Plvap	T	C	8: 71,964,173 (GRCm39)	E63G	probably damaging	Het
Ppig	A	G	2: 69,580,703 (GRCm39)	T746A	probably benign	Het
Prdm2	GCTCCTCCTCCTCCTCCTCCTCCTC	GCTCCTCCTCCTCCTCCTCCTC	4: 142,862,463 (GRCm39)		probably benign	Het
Rbm15b	A	G	9: 106,763,316 (GRCm39)	L284P	probably benign	Het
Relch	G	A	1: 105,678,698 (GRCm39)	V1130I	probably damaging	Het
Rhbdl3	T	C	11: 80,222,668 (GRCm39)	V239A	probably damaging	Het
Sae1	T	C	7: 16,100,781 (GRCm39)	E197G	probably benign	Het
Sdhaf2	C	T	19: 10,494,394 (GRCm39)	R105H	probably damaging	Het
Senp3	T	C	11: 69,567,965 (GRCm39)	D425G	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc46a1	T	C	11: 78,357,376 (GRCm39)	F143S	probably benign	Het
Tom1	T	A	8: 75,783,848 (GRCm39)	N52K	probably damaging	Het
Vmn1r11	A	T	6: 57,114,617 (GRCm39)	T94S	probably damaging	Het
Zfp236	A	G	18: 82,676,147 (GRCm39)	I390T	probably damaging	Het
Zfp709	A	T	8: 72,643,900 (GRCm39)	H443L	probably damaging	Het
Zfp960	C	T	17: 17,307,996 (GRCm39)	P237S	possibly 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
R4304: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
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'- AAGGCCAGCACTTGTATCACTG -3'
(R):5'- GGCTTGTCTCCATATCCGAAG -3'

Sequencing Primer
(F):5'- AGGCCAGCACTTGTATCACTGTATAC -3'
(R):5'- GCCATACTATTAGGTGTATGGTCAC -3'

Posted On

2016-11-08