Mutagenetix > Incidental Mutations

Incidental Mutation 'R6181:Arhgef2'

488061

Institutional Source

Beutler Lab

Gene Symbol

Arhgef2

Ensembl Gene

ENSMUSG00000028059

Gene Name

rho/rac guanine nucleotide exchange factor (GEF) 2

Synonyms

P40, Lfc, Lbcl1, GEFH1, LFP40, GEF-H1

MMRRC Submission

044323-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.668) question?

Stock #

R6181 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88605966-88648052 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88635620 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 358 (V358E)

Ref Sequence

ENSEMBL: ENSMUSP00000134840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029694] [ENSMUST00000107510] [ENSMUST00000170653] [ENSMUST00000175745] [ENSMUST00000175779] [ENSMUST00000175903] [ENSMUST00000175911] [ENSMUST00000176243] [ENSMUST00000176307] [ENSMUST00000176316] [ENSMUST00000176500] [ENSMUST00000176804] [ENSMUST00000177303] [ENSMUST00000177498] [ENSMUST00000176539] [ENSMUST00000176879] [ENSMUST00000177023]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029694
AA Change: V375E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059
AA Change: V375E

Domain	Start	End	E-Value	Type
C1	40	86	4.22e-9	SMART
low complexity region	90	95	N/A	INTRINSIC
low complexity region	133	146	N/A	INTRINSIC
RhoGEF	240	432	1.86e-58	SMART
PH	474	574	9.56e-11	SMART
coiled coil region	588	619	N/A	INTRINSIC
low complexity region	812	827	N/A	INTRINSIC
coiled coil region	829	866	N/A	INTRINSIC
low complexity region	872	888	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107510
AA Change: V348E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103134
Gene: ENSMUSG00000028059
AA Change: V348E

Domain	Start	End	E-Value	Type
C1	13	59	4.22e-9	SMART
low complexity region	63	68	N/A	INTRINSIC
low complexity region	106	119	N/A	INTRINSIC
RhoGEF	213	405	1.86e-58	SMART
PH	447	547	9.56e-11	SMART
coiled coil region	561	592	N/A	INTRINSIC
low complexity region	785	800	N/A	INTRINSIC
coiled coil region	802	839	N/A	INTRINSIC
low complexity region	845	861	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000170653
AA Change: V346E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127843
Gene: ENSMUSG00000028059
AA Change: V346E

Domain	Start	End	E-Value	Type
C1	13	59	4.22e-9	SMART
low complexity region	63	68	N/A	INTRINSIC
low complexity region	104	117	N/A	INTRINSIC
RhoGEF	211	403	1.86e-58	SMART
PH	445	545	9.56e-11	SMART
coiled coil region	559	590	N/A	INTRINSIC
low complexity region	783	798	N/A	INTRINSIC
coiled coil region	800	837	N/A	INTRINSIC
low complexity region	843	859	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175745

SMART Domains

Protein: ENSMUSP00000135044
Gene: ENSMUSG00000028059

Domain	Start	End	E-Value	Type
C1	13	59	4.22e-9	SMART
low complexity region	63	68	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000175779
AA Change: V360E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135177
Gene: ENSMUSG00000028059
AA Change: V360E

Domain	Start	End	E-Value	Type
C1	25	71	4.22e-9	SMART
low complexity region	75	80	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
RhoGEF	225	417	1.86e-58	SMART
PH	459	559	9.56e-11	SMART
coiled coil region	573	604	N/A	INTRINSIC
low complexity region	797	812	N/A	INTRINSIC
coiled coil region	814	851	N/A	INTRINSIC
low complexity region	857	873	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000175903
AA Change: V358E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135168
Gene: ENSMUSG00000028059
AA Change: V358E

Domain	Start	End	E-Value	Type
C1	25	71	4.22e-9	SMART
low complexity region	75	80	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
RhoGEF	223	415	1.86e-58	SMART
PH	457	557	9.56e-11	SMART
coiled coil region	571	602	N/A	INTRINSIC
low complexity region	795	810	N/A	INTRINSIC
coiled coil region	812	849	N/A	INTRINSIC
low complexity region	855	871	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000175911
AA Change: V367E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135428
Gene: ENSMUSG00000028059
AA Change: V367E

Domain	Start	End	E-Value	Type
C1	32	78	4.22e-9	SMART
low complexity region	82	87	N/A	INTRINSIC
low complexity region	125	138	N/A	INTRINSIC
RhoGEF	232	424	1.86e-58	SMART
PH	466	566	9.56e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176079

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176123

Predicted Effect

probably benign
Transcript: ENSMUST00000176243

SMART Domains

Protein: ENSMUSP00000135771
Gene: ENSMUSG00000028059

Domain	Start	End	E-Value	Type
C1	13	59	4.22e-9	SMART
low complexity region	63	68	N/A	INTRINSIC
low complexity region	104	117	N/A	INTRINSIC
Blast:RhoGEF	170	203	1e-14	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176301

Predicted Effect

probably benign
Transcript: ENSMUST00000176307

SMART Domains

Protein: ENSMUSP00000134843
Gene: ENSMUSG00000028059

Domain	Start	End	E-Value	Type
C1	13	59	4.22e-9	SMART
low complexity region	63	68	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176316

SMART Domains

Protein: ENSMUSP00000135808
Gene: ENSMUSG00000028059

Domain	Start	End	E-Value	Type
C1	32	78	4.22e-9	SMART
low complexity region	82	87	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000176500
AA Change: V360E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134834
Gene: ENSMUSG00000028059
AA Change: V360E

Domain	Start	End	E-Value	Type
C1	25	71	4.22e-9	SMART
low complexity region	75	80	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
RhoGEF	225	417	1.86e-58	SMART
PH	459	559	9.56e-11	SMART
coiled coil region	573	604	N/A	INTRINSIC
low complexity region	797	812	N/A	INTRINSIC
coiled coil region	814	851	N/A	INTRINSIC
low complexity region	857	873	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000176804
AA Change: V373E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059
AA Change: V373E

Domain	Start	End	E-Value	Type
C1	40	86	4.22e-9	SMART
low complexity region	90	95	N/A	INTRINSIC
low complexity region	133	146	N/A	INTRINSIC
RhoGEF	238	430	1.86e-58	SMART
PH	472	572	9.56e-11	SMART
coiled coil region	586	617	N/A	INTRINSIC
low complexity region	810	825	N/A	INTRINSIC
coiled coil region	827	864	N/A	INTRINSIC
low complexity region	870	886	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000177303
AA Change: V346E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135131
Gene: ENSMUSG00000028059
AA Change: V346E

Domain	Start	End	E-Value	Type
C1	13	59	4.22e-9	SMART
low complexity region	63	68	N/A	INTRINSIC
low complexity region	106	119	N/A	INTRINSIC
RhoGEF	211	403	1.86e-58	SMART
PH	445	545	9.56e-11	SMART
coiled coil region	559	590	N/A	INTRINSIC
low complexity region	783	798	N/A	INTRINSIC
coiled coil region	800	837	N/A	INTRINSIC
low complexity region	843	859	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000177498
AA Change: V358E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134840
Gene: ENSMUSG00000028059
AA Change: V358E

Domain	Start	End	E-Value	Type
C1	25	71	4.22e-9	SMART
low complexity region	75	80	N/A	INTRINSIC
low complexity region	116	129	N/A	INTRINSIC
RhoGEF	223	415	1.86e-58	SMART
PH	457	557	9.56e-11	SMART
coiled coil region	571	602	N/A	INTRINSIC
low complexity region	795	810	N/A	INTRINSIC
coiled coil region	812	849	N/A	INTRINSIC
low complexity region	855	871	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176401

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177091

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177418

Predicted Effect

probably benign
Transcript: ENSMUST00000176539

SMART Domains

Protein: ENSMUSP00000135612
Gene: ENSMUSG00000028059

Domain	Start	End	E-Value	Type
C1	25	71	4.22e-9	SMART
low complexity region	75	80	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
Blast:RhoGEF	184	253	2e-28	BLAST
PDB:4D0N\|B	196	255	1e-17	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000176879

SMART Domains

Protein: ENSMUSP00000134766
Gene: ENSMUSG00000028059

Domain	Start	End	E-Value	Type
C1	32	78	4.22e-9	SMART
low complexity region	82	87	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177023

SMART Domains

Protein: ENSMUSP00000134859
Gene: ENSMUSG00000028059

Domain	Start	End	E-Value	Type
C1	25	71	4.22e-9	SMART
low complexity region	75	80	N/A	INTRINSIC
low complexity region	116	129	N/A	INTRINSIC
Blast:RhoGEF	182	208	5e-9	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

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 that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired response to viral infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	A	G	5: 31,488,055	E384G	probably damaging	Het
Akr1b7	A	G	6: 34,415,378	H42R	possibly damaging	Het
Ankrd26	T	A	6: 118,548,877	H369L	probably benign	Het
Ano7	T	C	1: 93,395,359	S474P	probably damaging	Het
Aox3	T	C	1: 58,158,946	V639A	probably benign	Het
BC017158	A	G	7: 128,297,460		probably null	Het
Brpf3	A	G	17: 28,810,581	Y505C	probably damaging	Het
Casd1	A	G	6: 4,619,331	T120A	probably damaging	Het
Clasp1	T	G	1: 118,419,817	S32A	probably benign	Het
Clca2	A	T	3: 145,090,708	L246*	probably null	Het
Clcn7	A	G	17: 25,151,728	I353V	possibly damaging	Het
Cluap1	T	A	16: 3,933,744	D322E	probably benign	Het
Cmtm4	A	C	8: 104,356,365		probably null	Het
Cntnap2	C	T	6: 46,759,808	P723S	probably damaging	Het
Col6a3	T	A	1: 90,816,374	T84S	possibly damaging	Het
Corin	A	G	5: 72,372,096		probably null	Het
Cubn	G	A	2: 13,349,876	T1903I	probably benign	Het
Cyp27b1	A	C	10: 127,050,410	D320A	probably damaging	Het
Cyp2j6	G	C	4: 96,536,086	L145V	probably damaging	Het
Dennd2a	T	C	6: 39,485,620	K652R	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dock1	T	A	7: 135,158,522	M1638K	probably damaging	Het
Eya1	T	C	1: 14,302,872	S8G	probably damaging	Het
Fam193a	T	A	5: 34,443,540		probably null	Het
Fam208a	T	A	14: 27,472,278	M1145K	probably benign	Het
Fbxw11	T	A	11: 32,742,575	N515K	probably benign	Het
Gm11639	T	C	11: 104,831,333	S1924P	probably benign	Het
Gm13083	T	A	4: 143,616,258		probably null	Het
Gm609	A	G	16: 45,417,897	S185P	probably benign	Het
Gm6408	T	C	5: 146,483,772	V154A	possibly damaging	Het
Guf1	A	G	5: 69,561,716	Y235C	probably damaging	Het
Hnrnpul2	C	T	19: 8,823,232	S224L	possibly damaging	Het
Igkv8-19	T	A	6: 70,340,984	D86V	probably damaging	Het
Iqcf1	A	T	9: 106,501,975	D61V	probably damaging	Het
Lrp5	T	C	19: 3,628,427	D476G	probably damaging	Het
Luzp1	A	G	4: 136,543,267	T934A	probably benign	Het
Mboat7	A	T	7: 3,683,885	Y319N	probably benign	Het
Mdn1	A	G	4: 32,715,953	E2045G	probably damaging	Het
Mfsd14b	T	C	13: 65,112,584	R12G	probably benign	Het
Micall2	T	A	5: 139,716,751	T246S	probably benign	Het
Npepps	A	G	11: 97,242,004	V299A	probably damaging	Het
Olfr1381	T	A	11: 49,552,293	V182D	probably damaging	Het
P2ry13	A	G	3: 59,209,907	V150A	probably benign	Het
Pdc	T	C	1: 150,333,270	I168T	probably damaging	Het
Pde8b	C	T	13: 95,086,808	E313K	probably benign	Het
Pgap1	C	T	1: 54,512,777	G499R	probably benign	Het
Ppp1r15b	T	A	1: 133,132,523	C259*	probably null	Het
Ptgs1	A	G	2: 36,251,119	E526G	probably damaging	Het
Ptpn21	A	G	12: 98,699,999	L271P	probably damaging	Het
Rbm47	T	C	5: 66,026,490	T257A	possibly damaging	Het
Rfc3	C	T	5: 151,647,520	D104N	probably damaging	Het
Rhobtb3	A	G	13: 75,910,689	I330T	probably benign	Het
Rnf207	T	C	4: 152,308,848	T570A	probably benign	Het
Sbpl	T	C	17: 23,953,492	H151R	probably damaging	Het
Sstr3	T	C	15: 78,539,461	D362G	probably benign	Het
St7	T	C	6: 17,694,364		probably null	Het
Tdrd6	A	G	17: 43,628,897	V420A	probably damaging	Het
Tet2	C	A	3: 133,487,759	E305*	probably null	Het
Tmem209	A	T	6: 30,505,971	V68E	probably damaging	Het
Tmod4	A	T	3: 95,127,807	I208F	probably damaging	Het
Tpo	G	A	12: 30,131,885	L4F	probably benign	Het
Urb1	T	C	16: 90,779,094	H858R	probably benign	Het
Utrn	A	G	10: 12,739,456	W324R	probably damaging	Het
V1rd19	T	A	7: 24,003,215	F35L	possibly damaging	Het
Vmn1r170	C	A	7: 23,606,267	N31K	probably damaging	Het
Vmn1r192	T	A	13: 22,187,282	Y256F	probably damaging	Het
Vmn2r124	T	C	17: 18,073,757	I702T	possibly damaging	Het
Vmn2r96	G	A	17: 18,583,864	A459T	probably benign	Het
Vwf	G	T	6: 125,566,146	A132S	probably damaging	Het
Zfp202	G	A	9: 40,207,342	G17E	probably damaging	Het
Zfp608	A	G	18: 54,895,628	S1238P	possibly damaging	Het
Zfp804a	G	T	2: 82,257,142	M438I	probably damaging	Het
Zgrf1	G	A	3: 127,587,941	G246S	probably damaging	Het
Zwint	T	C	10: 72,656,599	V115A	probably benign	Het

Other mutations in Arhgef2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01913:Arhgef2	APN	3	88631919	missense	probably damaging	1.00
IGL02165:Arhgef2	APN	3	88646220	missense	probably damaging	1.00
monument	UTSW	3	88633648	critical splice donor site	probably null
R0090:Arhgef2	UTSW	3	88639348	missense	probably damaging	1.00
R0330:Arhgef2	UTSW	3	88642501	missense	probably damaging	1.00
R0414:Arhgef2	UTSW	3	88632268	splice site	probably benign
R0631:Arhgef2	UTSW	3	88634436	missense	probably damaging	0.99
R1635:Arhgef2	UTSW	3	88639321	critical splice acceptor site	probably null
R1688:Arhgef2	UTSW	3	88640300	missense	probably benign	0.32
R1751:Arhgef2	UTSW	3	88643953	missense	probably damaging	1.00
R1767:Arhgef2	UTSW	3	88643953	missense	probably damaging	1.00
R1836:Arhgef2	UTSW	3	88639459	missense	probably damaging	1.00
R1853:Arhgef2	UTSW	3	88632915	missense	possibly damaging	0.48
R1934:Arhgef2	UTSW	3	88629791	missense	probably damaging	0.96
R2155:Arhgef2	UTSW	3	88636044	missense	probably damaging	1.00
R2206:Arhgef2	UTSW	3	88629914	missense	probably damaging	1.00
R2360:Arhgef2	UTSW	3	88634416	missense	probably damaging	1.00
R3916:Arhgef2	UTSW	3	88633033	missense	probably damaging	1.00
R4090:Arhgef2	UTSW	3	88643878	missense	probably benign	0.01
R4732:Arhgef2	UTSW	3	88631940	nonsense	probably null
R4733:Arhgef2	UTSW	3	88631940	nonsense	probably null
R4837:Arhgef2	UTSW	3	88632943	missense	probably damaging	1.00
R4952:Arhgef2	UTSW	3	88642462	missense	probably damaging	1.00
R5152:Arhgef2	UTSW	3	88629568	splice site	probably null
R5194:Arhgef2	UTSW	3	88635649	missense	probably damaging	1.00
R5250:Arhgef2	UTSW	3	88633648	critical splice donor site	probably null
R5334:Arhgef2	UTSW	3	88646329	missense	probably damaging	0.96
R5514:Arhgef2	UTSW	3	88642997	missense	probably benign	0.01
R5560:Arhgef2	UTSW	3	88634437	missense	probably damaging	0.97
R5595:Arhgef2	UTSW	3	88642976	missense	probably benign	0.00
R5879:Arhgef2	UTSW	3	88643617	splice site	probably null
R5910:Arhgef2	UTSW	3	88635020	missense	probably damaging	1.00
R5914:Arhgef2	UTSW	3	88635869	missense	probably benign
R5918:Arhgef2	UTSW	3	88636080	missense	probably damaging	1.00
R6489:Arhgef2	UTSW	3	88643014	missense	probably damaging	1.00
R7167:Arhgef2	UTSW	3	88643872	missense	possibly damaging	0.56
R7289:Arhgef2	UTSW	3	88635885	missense	probably benign
R7318:Arhgef2	UTSW	3	88632303	missense	probably damaging	0.98
R7353:Arhgef2	UTSW	3	88635686	missense	possibly damaging	0.94
R7402:Arhgef2	UTSW	3	88633566	missense	probably damaging	1.00
R7441:Arhgef2	UTSW	3	88643955	missense	probably damaging	0.96
R7899:Arhgef2	UTSW	3	88621262	missense	probably damaging	1.00
R7934:Arhgef2	UTSW	3	88629914	missense	probably damaging	1.00
R8002:Arhgef2	UTSW	3	88646810	missense	probably damaging	1.00
R8254:Arhgef2	UTSW	3	88642603	missense	probably damaging	1.00
R8297:Arhgef2	UTSW	3	88639432	missense	probably benign	0.00
R8314:Arhgef2	UTSW	3	88621293	missense	probably benign	0.00
R8350:Arhgef2	UTSW	3	88646220	missense	probably damaging	1.00
R8450:Arhgef2	UTSW	3	88646220	missense	probably damaging	1.00
V1662:Arhgef2	UTSW	3	88633329	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTCGTCACCACAGATCTG -3'
(R):5'- CTTCACTAGTCCTAGGGCTGAC -3'

Sequencing Primer
(F):5'- ACAGATCTGTGGCATTCTCTTAC -3'
(R):5'- TCCAGCATGAGAGAGAGTTCAACC -3'

Posted On

2017-10-10