Mutagenetix > Incidental Mutation

Incidental Mutation 'R7201:Arhgef5'

560297

Institutional Source

Beutler Lab

Gene Symbol

Arhgef5

Ensembl Gene

ENSMUSG00000033542

Gene Name

Rho guanine nucleotide exchange factor (GEF) 5

Synonyms

2210412D05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7201 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43265582-43289320 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 43273232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 306 (Q306*)

Ref Sequence

ENSEMBL: ENSMUSP00000031750 (fasta)

Gene Model

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

AlphaFold

E9Q7D5

Predicted Effect

probably null
Transcript: ENSMUST00000031750
AA Change: Q306*

SMART Domains

Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: Q306*

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

Meta Mutation Damage Score

0.9701

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (80/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,291,627	M1850V	probably benign	Het
4933406M09Rik	A	G	1: 134,390,468	D326G	possibly damaging	Het
Acaca	A	G	11: 84,262,474	T903A	probably benign	Het
Acin1	A	T	14: 54,664,899	S479T	possibly damaging	Het
Actr6	A	T	10: 89,712,512	D370E	probably benign	Het
Adgrl3	T	C	5: 81,724,222	F921S	probably damaging	Het
Ankmy1	A	T	1: 92,886,824	H320Q	possibly damaging	Het
Arntl	T	A	7: 113,285,142	M122K	probably damaging	Het
Art4	A	T	6: 136,854,549	V198E	probably benign	Het
Asph	G	A	4: 9,474,917	R686W	probably damaging	Het
Atg7	A	G	6: 114,777,057	H724R	probably damaging	Het
B020004J07Rik	T	A	4: 101,838,141		probably null	Het
BC034090	A	G	1: 155,241,934	V146A	probably damaging	Het
Bcl2a1d	T	A	9: 88,731,586	Q45L	probably damaging	Het
Ccdc36	A	T	9: 108,404,775	D571E	probably damaging	Het
Cd28	G	T	1: 60,763,173	E84*	probably null	Het
Ceacam3	G	A	7: 17,158,238	W302*	probably null	Het
Cerkl	T	C	2: 79,333,590	N462S	probably benign	Het
Cisd2	A	T	3: 135,411,213	L39H	probably damaging	Het
Col11a1	C	A	3: 114,090,157	T225K	unknown	Het
Col15a1	A	T	4: 47,307,752	Y1178F	possibly damaging	Het
Cul4a	T	C	8: 13,142,991	S630P	probably damaging	Het
Cyp2c38	T	A	19: 39,401,776	I327F	probably damaging	Het
Cyp3a25	A	C	5: 145,991,447	S263A	probably benign	Het
Cyp3a25	T	A	5: 146,003,058	L46F	probably benign	Het
D17Wsu92e	A	C	17: 27,794,070		probably null	Het
Dmrta1	T	A	4: 89,692,171	L456*	probably null	Het
Dnah12	T	C	14: 26,814,622	L2165P	probably benign	Het
Dsg1a	C	A	18: 20,328,311	S253R	probably damaging	Het
Egln2	A	C	7: 27,160,319	I323S	probably damaging	Het
Fam171b	A	G	2: 83,878,230	T359A	probably damaging	Het
Fcgr2b	G	T	1: 170,963,397	Q276K	probably benign	Het
Fcrls	C	T	3: 87,252,627	C440Y	probably damaging	Het
Fmnl2	T	C	2: 53,073,654	V266A	unknown	Het
Glo1	A	T	17: 30,597,854	D109E	probably benign	Het
Grin3b	A	G	10: 79,974,078	R473G	possibly damaging	Het
Ica1	G	A	6: 8,644,015	L425F	probably damaging	Het
Kcnq5	T	C	1: 21,402,875	E716G	possibly damaging	Het
Klra17	A	T	6: 129,873,343	I48K	possibly damaging	Het
Lrrc66	G	T	5: 73,629,897	Q37K	probably benign	Het
Ly6a	T	A	15: 74,996,476	T55S	probably benign	Het
Lyst	T	A	13: 13,709,300	Y2924*	probably null	Het
Lyzl6	A	G	11: 103,631,351	Y140H	probably benign	Het
Mak	T	C	13: 41,051,440	I141V	possibly damaging	Het
Mapk7	A	G	11: 61,489,172	I789T	probably benign	Het
Mrpl4	T	C	9: 21,007,338	I123T	probably benign	Het
Mup18	G	C	4: 61,673,336		probably null	Het
Myef2	T	C	2: 125,096,162		probably null	Het
Myh7	T	C	14: 54,990,945	T235A	possibly damaging	Het
Myo18b	C	T	5: 112,715,459	C2171Y	probably damaging	Het
Nat8	A	T	6: 85,830,895	Y85*	probably null	Het
Nyap1	A	T	5: 137,736,262	S170T	probably damaging	Het
Ogfr	AGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,094		probably benign	Het
Olfr392	A	G	11: 73,814,341	V247A	probably benign	Het
Olfr559	T	A	7: 102,724,485	I2F	probably benign	Het
Olfr718-ps1	A	G	5: 143,137,798	Y157H	probably damaging	Het
Papss1	T	C	3: 131,599,926	L244P	probably damaging	Het
Pibf1	A	T	14: 99,196,408	D597V	probably damaging	Het
Pmpcb	T	A	5: 21,737,179	M1K	probably null	Het
Ppwd1	G	A	13: 104,207,172	P575L	probably damaging	Het
Prc1	A	G	7: 80,311,089	Q457R	possibly damaging	Het
Prdm10	T	C	9: 31,316,306	V69A	possibly damaging	Het
Prkdc	A	G	16: 15,698,803	I1014V	probably benign	Het
Rab3gap2	A	G	1: 185,267,191	Y999C	probably damaging	Het
Robo3	G	A	9: 37,424,330	Q539*	probably null	Het
Rps12	A	G	10: 23,785,231	Y127H	probably benign	Het
Sar1b	A	G	11: 51,788,252	D116G	probably benign	Het
Selenbp2	C	T	3: 94,702,357	P294L	probably benign	Het
Slc6a2	T	C	8: 92,995,672	Y516H	probably damaging	Het
Slit2	A	G	5: 48,237,285	N673S	probably null	Het
Snap91	A	T	9: 86,790,146		probably null	Het
Srpk2	A	G	5: 23,507,628	F653L	possibly damaging	Het
Supt5	A	T	7: 28,316,788	S824T	probably benign	Het
Taar7a	A	G	10: 23,992,460	V341A	probably benign	Het
Tmem52	G	A	4: 155,470,321	G134R	probably damaging	Het
Ush2a	A	G	1: 188,874,754	T3949A	probably benign	Het
Usp32	GAACAAGTCCACAACAA	GAACAA	11: 85,022,855		probably null	Het
Vmn1r173	A	T	7: 23,702,158		probably benign	Het
Vmn2r118	G	A	17: 55,608,496	R485*	probably null	Het
Vwce	A	G	19: 10,638,115	E120G	possibly damaging	Het
Zfp143	T	C	7: 110,093,080	V566A	possibly damaging	Het

Other mutations in Arhgef5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Arhgef5	APN	6	43280269	nonsense	probably null
IGL01341:Arhgef5	APN	6	43283991	missense	probably damaging	1.00
IGL01576:Arhgef5	APN	6	43274028	missense	probably benign	0.38
IGL01761:Arhgef5	APN	6	43274604	missense	probably benign	0.00
IGL02104:Arhgef5	APN	6	43272411	missense	probably damaging	0.99
IGL02208:Arhgef5	APN	6	43275130	missense	probably benign	0.11
IGL02487:Arhgef5	APN	6	43283982	missense	probably damaging	1.00
IGL02650:Arhgef5	APN	6	43272935	nonsense	probably null
IGL03292:Arhgef5	APN	6	43280246	missense	probably damaging	1.00
IGL03334:Arhgef5	APN	6	43274000	missense	possibly damaging	0.47
IGL03341:Arhgef5	APN	6	43280651	missense	probably damaging	0.99
R0047:Arhgef5	UTSW	6	43265621	splice site	probably null
R0206:Arhgef5	UTSW	6	43273341	missense	probably damaging	1.00
R0208:Arhgef5	UTSW	6	43273341	missense	probably damaging	1.00
R0698:Arhgef5	UTSW	6	43273341	missense	probably damaging	1.00
R1145:Arhgef5	UTSW	6	43273088	missense	possibly damaging	0.92
R1145:Arhgef5	UTSW	6	43273088	missense	possibly damaging	0.92
R1168:Arhgef5	UTSW	6	43273396	missense	probably benign	0.00
R1355:Arhgef5	UTSW	6	43283912	missense	probably damaging	1.00
R1370:Arhgef5	UTSW	6	43283912	missense	probably damaging	1.00
R1481:Arhgef5	UTSW	6	43274634	missense	probably damaging	0.99
R1529:Arhgef5	UTSW	6	43279515	missense	probably damaging	0.96
R1532:Arhgef5	UTSW	6	43273403	missense	probably benign
R1663:Arhgef5	UTSW	6	43276965	missense	probably damaging	1.00
R1742:Arhgef5	UTSW	6	43280199	missense	probably damaging	1.00
R1852:Arhgef5	UTSW	6	43275185	missense	probably benign	0.00
R1869:Arhgef5	UTSW	6	43288682	missense	probably damaging	1.00
R1880:Arhgef5	UTSW	6	43273088	missense	possibly damaging	0.92
R2146:Arhgef5	UTSW	6	43283318	missense	probably damaging	1.00
R2169:Arhgef5	UTSW	6	43274420	missense	probably benign	0.11
R3412:Arhgef5	UTSW	6	43273790	missense	probably benign
R4205:Arhgef5	UTSW	6	43273832	missense	possibly damaging	0.76
R4226:Arhgef5	UTSW	6	43279498	missense	probably damaging	1.00
R4227:Arhgef5	UTSW	6	43279498	missense	probably damaging	1.00
R4304:Arhgef5	UTSW	6	43279498	missense	probably damaging	1.00
R4308:Arhgef5	UTSW	6	43279498	missense	probably damaging	1.00
R4457:Arhgef5	UTSW	6	43274093	missense	probably damaging	1.00
R4469:Arhgef5	UTSW	6	43275099	missense	probably benign
R4636:Arhgef5	UTSW	6	43274942	missense	probably benign	0.11
R4791:Arhgef5	UTSW	6	43283183	missense	probably damaging	1.00
R4818:Arhgef5	UTSW	6	43273550	missense	probably benign	0.00
R4910:Arhgef5	UTSW	6	43272828	missense	probably benign	0.01
R4911:Arhgef5	UTSW	6	43272828	missense	probably benign	0.01
R5127:Arhgef5	UTSW	6	43273214	missense	probably damaging	0.99
R5209:Arhgef5	UTSW	6	43273700	missense	probably benign	0.01
R5245:Arhgef5	UTSW	6	43265680	start gained	probably benign
R5251:Arhgef5	UTSW	6	43272881	missense	possibly damaging	0.76
R5513:Arhgef5	UTSW	6	43272339	missense	probably damaging	0.96
R5613:Arhgef5	UTSW	6	43274063	missense	probably benign	0.01
R5616:Arhgef5	UTSW	6	43275940	missense	probably benign	0.20
R5817:Arhgef5	UTSW	6	43275104	missense	probably benign	0.15
R6024:Arhgef5	UTSW	6	43275134	missense	probably benign	0.00
R6735:Arhgef5	UTSW	6	43275032	missense	probably benign	0.01
R6825:Arhgef5	UTSW	6	43274961	missense	probably damaging	0.99
R6831:Arhgef5	UTSW	6	43280999	missense	probably damaging	1.00
R6901:Arhgef5	UTSW	6	43273298	missense	probably benign	0.00
R6932:Arhgef5	UTSW	6	43274417	missense	possibly damaging	0.94
R6968:Arhgef5	UTSW	6	43275342	missense	probably benign	0.00
R7018:Arhgef5	UTSW	6	43288731	missense	probably damaging	1.00
R7180:Arhgef5	UTSW	6	43275208	missense	possibly damaging	0.87
R7358:Arhgef5	UTSW	6	43279573	missense	probably damaging	1.00
R7359:Arhgef5	UTSW	6	43280282	missense	probably damaging	1.00
R7468:Arhgef5	UTSW	6	43280671	nonsense	probably null
R7503:Arhgef5	UTSW	6	43273999	missense	probably benign	0.15
R7699:Arhgef5	UTSW	6	43274757	missense	probably benign	0.11
R7700:Arhgef5	UTSW	6	43274757	missense	probably benign	0.11
R7737:Arhgef5	UTSW	6	43273794	missense	possibly damaging	0.84
R7847:Arhgef5	UTSW	6	43275135	nonsense	probably null
R7950:Arhgef5	UTSW	6	43273925	missense	possibly damaging	0.76
R8161:Arhgef5	UTSW	6	43283951	missense	probably damaging	1.00
R8178:Arhgef5	UTSW	6	43275185	missense	probably benign	0.00
R8203:Arhgef5	UTSW	6	43280645	missense	probably damaging	1.00
R8318:Arhgef5	UTSW	6	43275999	critical splice donor site	probably null
R8857:Arhgef5	UTSW	6	43287624	missense	probably damaging	1.00
R9499:Arhgef5	UTSW	6	43284006	missense
R9610:Arhgef5	UTSW	6	43280956	missense	probably damaging	0.99
R9611:Arhgef5	UTSW	6	43280956	missense	probably damaging	0.99
R9623:Arhgef5	UTSW	6	43274802	missense	possibly damaging	0.86
R9685:Arhgef5	UTSW	6	43273593	missense	probably benign	0.11
RF023:Arhgef5	UTSW	6	43279473	missense	probably damaging	1.00
X0028:Arhgef5	UTSW	6	43273701	missense	probably benign	0.03
X0065:Arhgef5	UTSW	6	43272408	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCAATCTCAGGAAGCCCAGG -3'
(R):5'- ACGGGCATCACTTTTCCTG -3'

Sequencing Primer
(F):5'- AACTCTGAACGAAGGCATTTG -3'
(R):5'- GGCATCACTTTTCCTGTTTGATCATG -3'

Posted On

2019-06-26