Mutagenetix > Incidental Mutation

Incidental Mutation 'R3412:Arhgef5'

267764

Institutional Source

Beutler Lab

Gene Symbol

Arhgef5

Ensembl Gene

ENSMUSG00000033542

Gene Name

Rho guanine nucleotide exchange factor (GEF) 5

Synonyms

2210412D05Rik

MMRRC Submission

040630-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3412 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43265582-43289320 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43273790 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 492 (I492V)

Ref Sequence

ENSEMBL: ENSMUSP00000031750 (fasta)

Gene Model

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

AlphaFold

E9Q7D5

Predicted Effect

probably benign
Transcript: ENSMUST00000031750
AA Change: I492V

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

SMART Domains

Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: I492V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203387

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (40/41)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	T	C	13: 8,752,618 (GRCm38)	F643S	probably damaging	Het
Ap2a2	T	A	7: 141,598,776 (GRCm38)	N105K	probably benign	Het
Atp8b4	C	A	2: 126,375,757 (GRCm38)	W613L	probably damaging	Het
Ccdc162	T	C	10: 41,539,549 (GRCm38)		probably benign	Het
Duxf4	G	A	10: 58,236,353 (GRCm38)	T13I	possibly damaging	Het
Esp24	T	A	17: 39,038,316 (GRCm38)	I11N	possibly damaging	Het
Exoc4	A	G	6: 33,265,975 (GRCm38)	E41G	probably damaging	Het
Eya1	T	A	1: 14,274,209 (GRCm38)		probably null	Het
Gckr	T	A	5: 31,300,867 (GRCm38)		probably null	Het
Gria4	T	A	9: 4,513,278 (GRCm38)	D277V	probably benign	Het
Il18r1	A	T	1: 40,491,067 (GRCm38)	D318V	probably damaging	Het
Il4i1	T	C	7: 44,836,658 (GRCm38)	L22P	probably damaging	Het
Inpp5d	C	A	1: 87,668,057 (GRCm38)	T175N	possibly damaging	Het
Krt90	T	A	15: 101,560,593 (GRCm38)	L171F	probably damaging	Het
Mthfd1	A	G	12: 76,303,749 (GRCm38)		probably null	Het
Or51f5	T	C	7: 102,774,755 (GRCm38)	L77P	possibly damaging	Het
Or51q1	T	C	7: 103,979,402 (GRCm38)	L76P	probably damaging	Het
Or5an1c	T	C	19: 12,241,590 (GRCm38)	I24V	probably benign	Het
Or6c1b	A	T	10: 129,437,307 (GRCm38)	D165V	probably damaging	Het
Pla2g4f	T	C	2: 120,303,106 (GRCm38)	S579G	probably benign	Het
Ppef2	T	G	5: 92,228,722 (GRCm38)	S649R	probably damaging	Het
Prss43	G	C	9: 110,829,464 (GRCm38)	Q277H	probably damaging	Het
Ramp2	TTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	11: 101,246,545 (GRCm38)		probably benign	Het
Rusc2	T	G	4: 43,415,935 (GRCm38)	S414A	probably damaging	Het
Sez6l	A	G	5: 112,475,361 (GRCm38)	L108P	possibly damaging	Het
Slc12a5	A	G	2: 164,968,431 (GRCm38)	D10G	probably benign	Het
Slc1a7	A	G	4: 108,010,994 (GRCm38)	E497G	probably benign	Het
Sos1	T	C	17: 80,406,717 (GRCm38)	D1108G	probably benign	Het
Spag8	T	A	4: 43,651,606 (GRCm38)	S423C	probably damaging	Het
Tacc2	A	G	7: 130,734,994 (GRCm38)	T2369A	probably benign	Het
Taok2	T	C	7: 126,870,858 (GRCm38)	I933V	possibly damaging	Het
Tex9	C	A	9: 72,477,758 (GRCm38)	Q265H	possibly damaging	Het
Trim69	T	C	2: 122,178,644 (GRCm38)	V395A	probably benign	Het
Tusc1	C	A	4: 93,334,936 (GRCm38)	R162L	probably damaging	Het
Ubr5	T	C	15: 38,004,235 (GRCm38)		probably benign	Het
Utp25	A	C	1: 193,128,502 (GRCm38)	S64R	possibly damaging	Het
Zfyve28	C	T	5: 34,199,684 (GRCm38)	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451 (GRCm38)	M533K	probably damaging	Het

Other mutations in Arhgef5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Arhgef5	APN	6	43,280,269 (GRCm38)	nonsense	probably null
IGL01341:Arhgef5	APN	6	43,283,991 (GRCm38)	missense	probably damaging	1.00
IGL01576:Arhgef5	APN	6	43,274,028 (GRCm38)	missense	probably benign	0.38
IGL01761:Arhgef5	APN	6	43,274,604 (GRCm38)	missense	probably benign	0.00
IGL02104:Arhgef5	APN	6	43,272,411 (GRCm38)	missense	probably damaging	0.99
IGL02208:Arhgef5	APN	6	43,275,130 (GRCm38)	missense	probably benign	0.11
IGL02487:Arhgef5	APN	6	43,283,982 (GRCm38)	missense	probably damaging	1.00
IGL02650:Arhgef5	APN	6	43,272,935 (GRCm38)	nonsense	probably null
IGL03292:Arhgef5	APN	6	43,280,246 (GRCm38)	missense	probably damaging	1.00
IGL03334:Arhgef5	APN	6	43,274,000 (GRCm38)	missense	possibly damaging	0.47
IGL03341:Arhgef5	APN	6	43,280,651 (GRCm38)	missense	probably damaging	0.99
R0047:Arhgef5	UTSW	6	43,265,621 (GRCm38)	splice site	probably null
R0206:Arhgef5	UTSW	6	43,273,341 (GRCm38)	missense	probably damaging	1.00
R0208:Arhgef5	UTSW	6	43,273,341 (GRCm38)	missense	probably damaging	1.00
R0698:Arhgef5	UTSW	6	43,273,341 (GRCm38)	missense	probably damaging	1.00
R1145:Arhgef5	UTSW	6	43,273,088 (GRCm38)	missense	possibly damaging	0.92
R1145:Arhgef5	UTSW	6	43,273,088 (GRCm38)	missense	possibly damaging	0.92
R1168:Arhgef5	UTSW	6	43,273,396 (GRCm38)	missense	probably benign	0.00
R1355:Arhgef5	UTSW	6	43,283,912 (GRCm38)	missense	probably damaging	1.00
R1370:Arhgef5	UTSW	6	43,283,912 (GRCm38)	missense	probably damaging	1.00
R1481:Arhgef5	UTSW	6	43,274,634 (GRCm38)	missense	probably damaging	0.99
R1529:Arhgef5	UTSW	6	43,279,515 (GRCm38)	missense	probably damaging	0.96
R1532:Arhgef5	UTSW	6	43,273,403 (GRCm38)	missense	probably benign
R1663:Arhgef5	UTSW	6	43,276,965 (GRCm38)	missense	probably damaging	1.00
R1742:Arhgef5	UTSW	6	43,280,199 (GRCm38)	missense	probably damaging	1.00
R1852:Arhgef5	UTSW	6	43,275,185 (GRCm38)	missense	probably benign	0.00
R1869:Arhgef5	UTSW	6	43,288,682 (GRCm38)	missense	probably damaging	1.00
R1880:Arhgef5	UTSW	6	43,273,088 (GRCm38)	missense	possibly damaging	0.92
R2146:Arhgef5	UTSW	6	43,283,318 (GRCm38)	missense	probably damaging	1.00
R2169:Arhgef5	UTSW	6	43,274,420 (GRCm38)	missense	probably benign	0.11
R4205:Arhgef5	UTSW	6	43,273,832 (GRCm38)	missense	possibly damaging	0.76
R4226:Arhgef5	UTSW	6	43,279,498 (GRCm38)	missense	probably damaging	1.00
R4227:Arhgef5	UTSW	6	43,279,498 (GRCm38)	missense	probably damaging	1.00
R4304:Arhgef5	UTSW	6	43,279,498 (GRCm38)	missense	probably damaging	1.00
R4308:Arhgef5	UTSW	6	43,279,498 (GRCm38)	missense	probably damaging	1.00
R4457:Arhgef5	UTSW	6	43,274,093 (GRCm38)	missense	probably damaging	1.00
R4469:Arhgef5	UTSW	6	43,275,099 (GRCm38)	missense	probably benign
R4636:Arhgef5	UTSW	6	43,274,942 (GRCm38)	missense	probably benign	0.11
R4791:Arhgef5	UTSW	6	43,283,183 (GRCm38)	missense	probably damaging	1.00
R4818:Arhgef5	UTSW	6	43,273,550 (GRCm38)	missense	probably benign	0.00
R4910:Arhgef5	UTSW	6	43,272,828 (GRCm38)	missense	probably benign	0.01
R4911:Arhgef5	UTSW	6	43,272,828 (GRCm38)	missense	probably benign	0.01
R5127:Arhgef5	UTSW	6	43,273,214 (GRCm38)	missense	probably damaging	0.99
R5209:Arhgef5	UTSW	6	43,273,700 (GRCm38)	missense	probably benign	0.01
R5245:Arhgef5	UTSW	6	43,265,680 (GRCm38)	start gained	probably benign
R5251:Arhgef5	UTSW	6	43,272,881 (GRCm38)	missense	possibly damaging	0.76
R5513:Arhgef5	UTSW	6	43,272,339 (GRCm38)	missense	probably damaging	0.96
R5613:Arhgef5	UTSW	6	43,274,063 (GRCm38)	missense	probably benign	0.01
R5616:Arhgef5	UTSW	6	43,275,940 (GRCm38)	missense	probably benign	0.20
R5817:Arhgef5	UTSW	6	43,275,104 (GRCm38)	missense	probably benign	0.15
R6024:Arhgef5	UTSW	6	43,275,134 (GRCm38)	missense	probably benign	0.00
R6735:Arhgef5	UTSW	6	43,275,032 (GRCm38)	missense	probably benign	0.01
R6825:Arhgef5	UTSW	6	43,274,961 (GRCm38)	missense	probably damaging	0.99
R6831:Arhgef5	UTSW	6	43,280,999 (GRCm38)	missense	probably damaging	1.00
R6901:Arhgef5	UTSW	6	43,273,298 (GRCm38)	missense	probably benign	0.00
R6932:Arhgef5	UTSW	6	43,274,417 (GRCm38)	missense	possibly damaging	0.94
R6968:Arhgef5	UTSW	6	43,275,342 (GRCm38)	missense	probably benign	0.00
R7018:Arhgef5	UTSW	6	43,288,731 (GRCm38)	missense	probably damaging	1.00
R7180:Arhgef5	UTSW	6	43,275,208 (GRCm38)	missense	possibly damaging	0.87
R7201:Arhgef5	UTSW	6	43,273,232 (GRCm38)	nonsense	probably null
R7358:Arhgef5	UTSW	6	43,279,573 (GRCm38)	missense	probably damaging	1.00
R7359:Arhgef5	UTSW	6	43,280,282 (GRCm38)	missense	probably damaging	1.00
R7468:Arhgef5	UTSW	6	43,280,671 (GRCm38)	nonsense	probably null
R7503:Arhgef5	UTSW	6	43,273,999 (GRCm38)	missense	probably benign	0.15
R7699:Arhgef5	UTSW	6	43,274,757 (GRCm38)	missense	probably benign	0.11
R7700:Arhgef5	UTSW	6	43,274,757 (GRCm38)	missense	probably benign	0.11
R7737:Arhgef5	UTSW	6	43,273,794 (GRCm38)	missense	possibly damaging	0.84
R7847:Arhgef5	UTSW	6	43,275,135 (GRCm38)	nonsense	probably null
R7950:Arhgef5	UTSW	6	43,273,925 (GRCm38)	missense	possibly damaging	0.76
R8161:Arhgef5	UTSW	6	43,283,951 (GRCm38)	missense	probably damaging	1.00
R8178:Arhgef5	UTSW	6	43,275,185 (GRCm38)	missense	probably benign	0.00
R8203:Arhgef5	UTSW	6	43,280,645 (GRCm38)	missense	probably damaging	1.00
R8318:Arhgef5	UTSW	6	43,275,999 (GRCm38)	critical splice donor site	probably null
R8857:Arhgef5	UTSW	6	43,287,624 (GRCm38)	missense	probably damaging	1.00
R9499:Arhgef5	UTSW	6	43,284,006 (GRCm38)	missense
R9610:Arhgef5	UTSW	6	43,280,956 (GRCm38)	missense	probably damaging	0.99
R9611:Arhgef5	UTSW	6	43,280,956 (GRCm38)	missense	probably damaging	0.99
R9623:Arhgef5	UTSW	6	43,274,802 (GRCm38)	missense	possibly damaging	0.86
R9685:Arhgef5	UTSW	6	43,273,593 (GRCm38)	missense	probably benign	0.11
RF023:Arhgef5	UTSW	6	43,279,473 (GRCm38)	missense	probably damaging	1.00
X0028:Arhgef5	UTSW	6	43,273,701 (GRCm38)	missense	probably benign	0.03
X0065:Arhgef5	UTSW	6	43,272,408 (GRCm38)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CCCAGGTACATTGTTCCCAG -3'
(R):5'- AGTCTCACATGGCCCACAATG -3'

Sequencing Primer
(F):5'- GCTGATATTCCACAGATTCAGAAGG -3'
(R):5'- ACAATGATGTGGAGTGTCAGCTG -3'

Posted On

2015-02-18