Mutagenetix > Incidental Mutation

Incidental Mutation 'R7847:Arhgef5'

606677

Institutional Source

Beutler Lab

Gene Symbol

Arhgef5

Ensembl Gene

ENSMUSG00000033542

Gene Name

Rho guanine nucleotide exchange factor 5

Synonyms

2210412D05Rik

MMRRC Submission

045901-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43242578-43266254 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 43252069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 940 (S940*)

Ref Sequence

ENSEMBL: ENSMUSP00000031750 (fasta)

Gene Model

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

AlphaFold

E9Q7D5

Predicted Effect

probably null
Transcript: ENSMUST00000031750
AA Change: S940*

SMART Domains

Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: S940*

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 null
Transcript: ENSMUST00000182924
AA Change: S208*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (45/45)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	A	17: 35,879,549 (GRCm39)	Y296N	probably benign	Het
Abcc4	T	C	14: 118,864,892 (GRCm39)	E378G	probably damaging	Het
Acp2	C	T	2: 91,041,077 (GRCm39)	H422Y	possibly damaging	Het
Aldoart1	C	T	4: 72,770,193 (GRCm39)	C205Y	probably damaging	Het
Alg9	T	C	9: 50,700,905 (GRCm39)	L225S	possibly damaging	Het
Anapc1	A	C	2: 128,511,828 (GRCm39)	V455G	possibly damaging	Het
Asb15	C	A	6: 24,564,266 (GRCm39)	A240E	probably damaging	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,092,160 (GRCm39)		probably benign	Het
Ccdc17	A	G	4: 116,457,103 (GRCm39)	E529G	probably benign	Het
Cyp2b10	T	C	7: 25,597,185 (GRCm39)	S26P	possibly damaging	Het
Dcp1b	T	C	6: 119,192,256 (GRCm39)	S391P	probably benign	Het
Dock6	A	T	9: 21,712,503 (GRCm39)	L2086Q	unknown	Het
Ephx1	A	G	1: 180,829,426 (GRCm39)	S41P	probably benign	Het
Erbb3	G	A	10: 128,407,058 (GRCm39)	T1034M	probably damaging	Het
Gm17334	T	A	11: 53,663,564 (GRCm39)		probably benign	Het
Golgb1	A	G	16: 36,752,282 (GRCm39)	H3227R	probably damaging	Het
Grin2c	G	A	11: 115,151,804 (GRCm39)	P52L	possibly damaging	Het
Herc2	T	C	7: 55,807,308 (GRCm39)		probably null	Het
Il17rb	A	G	14: 29,718,763 (GRCm39)	Y440H	probably damaging	Het
Kcng4	A	G	8: 120,352,881 (GRCm39)	L343P	probably damaging	Het
Knl1	G	A	2: 118,901,457 (GRCm39)	E1053K	probably benign	Het
Lipo4	A	T	19: 33,491,599 (GRCm39)	V128E	possibly damaging	Het
Lmntd2	T	C	7: 140,790,063 (GRCm39)	N650D	probably benign	Het
Lrrfip2	T	C	9: 111,042,948 (GRCm39)	L460P	probably damaging	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Mtcl1	T	C	17: 66,651,328 (GRCm39)	Q1379R	probably damaging	Het
Mtfr2	G	A	10: 20,233,198 (GRCm39)	A256T	probably benign	Het
Mup17	T	A	4: 61,511,456 (GRCm39)	H159L	probably benign	Het
Ndufaf1	A	T	2: 119,490,534 (GRCm39)	D175E	probably damaging	Het
Nup210l	A	G	3: 90,058,430 (GRCm39)	M610V	probably benign	Het
Or10ak14	G	T	4: 118,611,565 (GRCm39)	H59N	possibly damaging	Het
Or7a38	T	A	10: 78,752,730 (GRCm39)	S19T	probably benign	Het
Or8g35	A	G	9: 39,381,801 (GRCm39)	S74P	probably benign	Het
Pard3b	A	G	1: 62,383,093 (GRCm39)	D729G	probably benign	Het
Phactr1	T	C	13: 43,210,664 (GRCm39)	L169P	possibly damaging	Het
Rad54b	T	A	4: 11,612,655 (GRCm39)	S762R	probably damaging	Het
Senp5	C	T	16: 31,808,991 (GRCm39)	V88I	probably benign	Het
Specc1l	T	C	10: 75,145,670 (GRCm39)	V1105A	probably damaging	Het
Trak2	A	C	1: 58,974,977 (GRCm39)	S72A	possibly damaging	Het
Ttyh2	T	C	11: 114,566,500 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,163,005 (GRCm39)	C1029Y	probably damaging	Het
Vmn2r17	A	G	5: 109,568,063 (GRCm39)	Y62C	probably damaging	Het
Vmn2r41	A	G	7: 8,164,547 (GRCm39)	F2L	probably benign	Het
Xirp1	G	T	9: 119,848,819 (GRCm39)	D21E	possibly damaging	Het
Zfp114	C	A	7: 23,880,460 (GRCm39)	Q270K	possibly damaging	Het
Zfp341	T	C	2: 154,476,114 (GRCm39)	S441P	probably damaging	Het
Zfp780b	A	C	7: 27,663,843 (GRCm39)	H237Q	probably benign	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
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
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'- TCTGTTGGACGAACCTCCTG -3'
(R):5'- TCAGGCAAAATTGAAGGTCTACG -3'

Sequencing Primer
(F):5'- ACGAACCTCCTGGCCTC -3'
(R):5'- GGTCTACGAAGGCCTTGC -3'

Posted On

2019-12-20