Mutagenetix > Incidental Mutation

Incidental Mutation 'V1662:Arhgef2'

63477

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.714) question?

Stock #

V1662 () of strain 633

Quality Score

192

Status

Not validated

Chromosome

Chromosomal Location

88605966-88648052 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88633329 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 154 (R154Q)

Ref Sequence

ENSEMBL: ENSMUSP00000135131 (fasta)

Gene Model

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

AlphaFold

Q60875

Predicted Effect

probably damaging
Transcript: ENSMUST00000029694
AA Change: R181Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059
AA Change: R181Q

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: R154Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103134
Gene: ENSMUSG00000028059
AA Change: R154Q

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: R152Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127843
Gene: ENSMUSG00000028059
AA Change: R152Q

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: R166Q

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

SMART Domains

Protein: ENSMUSP00000135177
Gene: ENSMUSG00000028059
AA Change: R166Q

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: R166Q

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

SMART Domains

Protein: ENSMUSP00000135168
Gene: ENSMUSG00000028059
AA Change: R166Q

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: R173Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135428
Gene: ENSMUSG00000028059
AA Change: R173Q

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 damaging
Transcript: ENSMUST00000176243
AA Change: R152Q

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135771
Gene: ENSMUSG00000028059
AA Change: R152Q

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 damaging
Transcript: ENSMUST00000176539
AA Change: R166Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135612
Gene: ENSMUSG00000028059
AA Change: R166Q

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 damaging
Transcript: ENSMUST00000177303
AA Change: R154Q

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

SMART Domains

Protein: ENSMUSP00000135131
Gene: ENSMUSG00000028059
AA Change: R154Q

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: ENSMUST00000176500
AA Change: R166Q

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

SMART Domains

Protein: ENSMUSP00000134834
Gene: ENSMUSG00000028059
AA Change: R166Q

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: ENSMUST00000177023
AA Change: R164Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134859
Gene: ENSMUSG00000028059
AA Change: R164Q

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

probably damaging
Transcript: ENSMUST00000176804
AA Change: R181Q

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

SMART Domains

Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059
AA Change: R181Q

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: ENSMUST00000177498
AA Change: R164Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134840
Gene: ENSMUSG00000028059
AA Change: R164Q

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: ENSMUST00000176400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176401

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177091

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 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

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.6%
20x: 95.4%

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	G	C	5: 114,238,708	G1951R	probably damaging	Het
Adamts12	T	A	15: 11,071,808	L146Q	probably benign	Het
Adgra1	T	C	7: 139,852,579	I111T	probably damaging	Het
Amph	G	A	13: 19,139,370	V601M	probably benign	Het
Arfgef1	T	C	1: 10,173,253	K1024E	probably damaging	Het
Bank1	T	A	3: 136,054,418	D782V	probably damaging	Het
Bhlha9	G	T	11: 76,673,036	R163L	probably benign	Het
Cacna1h	T	C	17: 25,377,309	N1913D	possibly damaging	Het
Cd7	T	C	11: 121,037,126	I184V	probably benign	Het
Cdk2ap1	T	A	5: 124,348,676	I68F	possibly damaging	Het
Cfap44	C	A	16: 44,449,138	Y1168*	probably null	Het
D6Ertd527e	T	C	6: 87,111,892	S346P	unknown	Het
Daam2	A	G	17: 49,464,601	L839P	possibly damaging	Het
Fam198a	A	G	9: 121,965,025	R82G	probably damaging	Het
Gm7030	A	G	17: 36,128,931	Y104H	probably benign	Het
Golgb1	A	G	16: 36,898,542	H270R	probably benign	Het
Itgav	C	T	2: 83,783,854	R519W	possibly damaging	Het
Lrp1b	A	T	2: 41,122,932	I2001K	probably damaging	Het
Lrrc40	T	A	3: 158,052,789	I277K	probably damaging	Het
Olfr1025-ps1	C	A	2: 85,918,594	T223K	probably benign	Het
Olfr1350	A	T	7: 6,570,819	Y276F	probably damaging	Het
Olfr1373	T	C	11: 52,145,177	M118V	probably damaging	Het
Olfr524	C	T	7: 140,201,958	D271N	possibly damaging	Het
Pyroxd1	G	A	6: 142,358,443	G307S	probably damaging	Het
Rp1	T	A	1: 4,349,560	Y443F	probably damaging	Het
Rpusd4	C	A	9: 35,272,761	S237R	probably benign	Het
Sdk2	A	C	11: 113,834,908	W1172G	probably damaging	Het
Utrn	A	G	10: 12,421,640	Y675H	probably damaging	Het
Vmn1r193	A	G	13: 22,219,075	I249T	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTCCTTACAGCGACCACCAGAGAG -3'
(R):5'- GGAACCAAAGTGGCCTTAGCATACC -3'

Sequencing Primer
(F):5'- CTACCAACATTGCTGGGTGAG -3'
(R):5'- GTGGCCTTAGCATACCATAGATG -3'

Posted On

2013-07-30