Mutagenetix > Incidental Mutation

Incidental Mutation 'R7353:Arhgef2'

570717

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.485) question?

Stock #

R7353 (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 88635686 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 397 (V397E)

Ref Sequence

ENSEMBL: ENSMUSP00000029694 (fasta)

Gene Model

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

AlphaFold

Q60875

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029694
AA Change: V397E

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059
AA Change: V397E

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

possibly damaging
Transcript: ENSMUST00000107510
AA Change: V370E

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103134
Gene: ENSMUSG00000028059
AA Change: V370E

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

possibly damaging
Transcript: ENSMUST00000170653
AA Change: V368E

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127843
Gene: ENSMUSG00000028059
AA Change: V368E

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

possibly damaging
Transcript: ENSMUST00000175779
AA Change: V382E

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135177
Gene: ENSMUSG00000028059
AA Change: V382E

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

possibly damaging
Transcript: ENSMUST00000175903
AA Change: V380E

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135168
Gene: ENSMUSG00000028059
AA Change: V380E

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

possibly damaging
Transcript: ENSMUST00000175911
AA Change: V389E

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135428
Gene: ENSMUSG00000028059
AA Change: V389E

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

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

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

possibly damaging
Transcript: ENSMUST00000176500
AA Change: V382E

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134834
Gene: ENSMUSG00000028059
AA Change: V382E

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 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

possibly damaging
Transcript: ENSMUST00000176804
AA Change: V395E

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059
AA Change: V395E

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 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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177303
AA Change: V368E

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135131
Gene: ENSMUSG00000028059
AA Change: V368E

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

possibly damaging
Transcript: ENSMUST00000177498
AA Change: V380E

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134840
Gene: ENSMUSG00000028059
AA Change: V380E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	A	13: 119,488,178	A11S	unknown	Het
Aadacl4	G	A	4: 144,617,920	V89I	probably damaging	Het
Abcc9	T	A	6: 142,601,005	I1369F	probably damaging	Het
Adgrf3	T	A	5: 30,198,497	I427F	probably damaging	Het
Alox12e	T	C	11: 70,321,435	Y139C	probably damaging	Het
Arhgef28	T	A	13: 98,075,202	Y91F	probably damaging	Het
Bcar3	A	G	3: 122,512,692	T454A	probably benign	Het
Bicc1	G	T	10: 70,947,900	T469K	probably benign	Het
Boc	C	T	16: 44,485,737	V1070M	unknown	Het
Ccdc88a	T	A	11: 29,463,368	N635K	probably benign	Het
Ccr2	T	C	9: 124,106,756	S358P	probably damaging	Het
Ccser2	T	C	14: 36,941,143	Q28R	possibly damaging	Het
Cenpf	T	A	1: 189,654,138	K1982*	probably null	Het
Csn1s2a	A	T	5: 87,785,302	I137F	possibly damaging	Het
Cttnbp2	A	T	6: 18,375,944	I1532K	possibly damaging	Het
Dnajc13	C	A	9: 104,230,031	R304L	possibly damaging	Het
Dopey1	T	A	9: 86,512,859	M664K	probably damaging	Het
Emilin3	T	A	2: 160,908,821	E336V	probably damaging	Het
Eml5	A	G	12: 98,825,424	Y63H		Het
Fbxo41	G	T	6: 85,479,976	R404S	possibly damaging	Het
Gm8897	G	A	5: 11,416,436	D7N	possibly damaging	Het
Gpr155	A	T	2: 73,367,491	Y456*	probably null	Het
Gpr156	T	A	16: 37,992,161	N286K	probably damaging	Het
Kcna5	A	G	6: 126,534,845	S107P	probably benign	Het
Kcne2	A	T	16: 92,296,822	H79L	possibly damaging	Het
Kcnh4	T	A	11: 100,757,199	M113L	probably benign	Het
Lad1	T	A	1: 135,827,775	L263Q	probably damaging	Het
Lctl	G	A	9: 64,126,967	G296D	probably damaging	Het
Lmtk3	A	T	7: 45,788,000	I205F	possibly damaging	Het
Magel2	G	T	7: 62,379,331	R661L	unknown	Het
Mcm10	G	A	2: 5,007,109	P180S	possibly damaging	Het
Mia3	G	T	1: 183,327,392	A446D		Het
N4bp2	G	A	5: 65,806,371	V588M	probably benign	Het
Naip6	C	T	13: 100,299,751	V755M	probably benign	Het
Neurl1a	T	C	19: 47,240,660	V213A	probably damaging	Het
Nrd1	A	G	4: 109,039,749	T522A	probably damaging	Het
Ntng1	T	C	3: 110,135,447	Q21R	probably damaging	Het
Nup160	T	C	2: 90,703,952	L707S	probably damaging	Het
Oas2	A	T	5: 120,738,522	V452D	probably damaging	Het
Olfr3	A	G	2: 36,812,903	L63P	probably damaging	Het
Olfr350	A	T	2: 36,850,069	M8L	probably benign	Het
Olfr351	G	A	2: 36,859,668	R227*	probably null	Het
Olfr519	A	G	7: 108,894,222	F67L	probably damaging	Het
Olfr593	A	C	7: 103,212,309	T150P	probably damaging	Het
Plekhg1	A	T	10: 3,964,327	T1405S		Het
Pnrc1	G	A	4: 33,248,300	P33L	probably damaging	Het
Prkag2	A	T	5: 24,880,686	V312E	possibly damaging	Het
Rps17	T	A	7: 81,344,345	E76V	possibly damaging	Het
Rsph10b	G	A	5: 143,967,220	G672S	possibly damaging	Het
Slc2a13	T	C	15: 91,321,604	N460S	probably benign	Het
Slco2b1	A	T	7: 99,690,557	C56S	possibly damaging	Het
Spn	T	C	7: 127,137,006	T110A	probably benign	Het
Sult2a8	T	C	7: 14,413,715	N217S	possibly damaging	Het
Tbx2	C	A	11: 85,833,489	T128N	probably damaging	Het
Tecpr2	A	T	12: 110,967,844	M1313L	probably benign	Het
Tmc2	G	A	2: 130,196,577		probably null	Het
Tstd1	G	T	1: 171,419,955	A69S	probably damaging	Het
Txnrd3	A	G	6: 89,661,585	D252G	probably benign	Het
Ulk2	T	C	11: 61,819,348	N345D	probably damaging	Het
Unc13c	T	C	9: 73,574,073	D1694G	probably benign	Het
Vill	T	C	9: 119,065,493	V406A	probably damaging	Het
Vmn2r115	T	C	17: 23,345,913	V258A	possibly damaging	Het
Vmn2r82	T	A	10: 79,396,618	M817K	probably benign	Het
Xpnpep3	T	C	15: 81,430,887	S263P	probably benign	Het
Zfp980	A	G	4: 145,702,144	D481G	probably benign	Het
Zmpste24	A	G	4: 121,095,581	S81P	probably damaging	Het
Znrf4	A	G	17: 56,512,169	V46A	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
R6181:Arhgef2	UTSW	3	88635620	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
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
R8755:Arhgef2	UTSW	3	88629543	missense	probably benign	0.00
R9632:Arhgef2	UTSW	3	88621269	missense	probably benign	0.43
R9710:Arhgef2	UTSW	3	88621269	missense	probably benign	0.43
V1662:Arhgef2	UTSW	3	88633329	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCCAGAAGCTGTGCCTAG -3'
(R):5'- TTCACTAGTCCTAGGGCTGAC -3'

Sequencing Primer
(F):5'- TGTGCCTAGGCCAACATG -3'
(R):5'- AAGTCTTGGTACTCTTCTTCAACC -3'

Posted On

2019-09-13