Mutagenetix > Incidental Mutations

Incidental Mutation 'R2155:Arhgef2'

234690

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

040158-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.751) question?

Stock #

R2155 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88605966-88648052 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88636044 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 454 (R454Q)

Ref Sequence

ENSEMBL: ENSMUSP00000134840 (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]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029694
AA Change: R471Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059
AA Change: R471Q

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: R444Q

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

SMART Domains

Protein: ENSMUSP00000103134
Gene: ENSMUSG00000028059
AA Change: R444Q

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: R442Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127843
Gene: ENSMUSG00000028059
AA Change: R442Q

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: R456Q

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

SMART Domains

Protein: ENSMUSP00000135177
Gene: ENSMUSG00000028059
AA Change: R456Q

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: R454Q

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

SMART Domains

Protein: ENSMUSP00000135168
Gene: ENSMUSG00000028059
AA Change: R454Q

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: R463Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135428
Gene: ENSMUSG00000028059
AA Change: R463Q

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

noncoding transcript
Transcript: ENSMUST00000176400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176401

Predicted Effect

probably damaging
Transcript: ENSMUST00000176500
AA Change: R456Q

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

SMART Domains

Protein: ENSMUSP00000134834
Gene: ENSMUSG00000028059
AA Change: R456Q

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

noncoding transcript
Transcript: ENSMUST00000176528

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 damaging
Transcript: ENSMUST00000176804
AA Change: R469Q

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

SMART Domains

Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059
AA Change: R469Q

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

noncoding transcript
Transcript: ENSMUST00000177091

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177120

Predicted Effect

probably damaging
Transcript: ENSMUST00000177303
AA Change: R442Q

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

SMART Domains

Protein: ENSMUSP00000135131
Gene: ENSMUSG00000028059
AA Change: R442Q

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

noncoding transcript
Transcript: ENSMUST00000177418

Predicted Effect

probably damaging
Transcript: ENSMUST00000177498
AA Change: R454Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134840
Gene: ENSMUSG00000028059
AA Change: R454Q

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: 99.2%
3x: 98.6%
10x: 97.4%
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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	G	16: 17,121,396	L41P	probably damaging	Het
Aff4	C	T	11: 53,399,619	L469F	probably damaging	Het
AI182371	G	A	2: 35,085,354	H288Y	probably benign	Het
AK157302	A	T	13: 21,495,657	K118*	probably null	Het
Asb17	C	T	3: 153,844,685	T118M	probably damaging	Het
Atp7b	A	G	8: 22,013,584	V718A	possibly damaging	Het
BC003331	A	G	1: 150,382,335	V183A	possibly damaging	Het
Cdca2	A	G	14: 67,714,838	L28S	probably damaging	Het
Cdh7	G	T	1: 110,048,864	L86F	probably damaging	Het
Cela2a	A	T	4: 141,818,039		probably null	Het
Cers3	T	A	7: 66,783,414	Y160N	probably damaging	Het
Chmp2b	A	G	16: 65,546,991	V56A	probably benign	Het
Cryl1	A	G	14: 57,398,423	V9A	unknown	Het
Dmbt1	A	T	7: 131,097,575	H978L	possibly damaging	Het
Dnm1	C	T	2: 32,314,937	V673M	probably damaging	Het
Dtx4	T	A	19: 12,485,282	K378*	probably null	Het
Extl1	A	T	4: 134,363,180	M328K	possibly damaging	Het
Fcgbp	T	C	7: 28,107,203	S2199P	probably benign	Het
Glis3	G	T	19: 28,531,302	N427K	probably benign	Het
Gm6614	T	C	6: 141,980,944	D552G	probably damaging	Het
Gm884	T	C	11: 103,620,459	T228A	unknown	Het
Hdac7	T	C	15: 97,794,063	K810E	probably benign	Het
Hesx1	A	G	14: 27,001,477	E88G	probably benign	Het
Hmcn2	A	T	2: 31,460,349	Q5086L	possibly damaging	Het
Ier3	A	G	17: 35,822,209	T128A	probably benign	Het
Igsf10	G	T	3: 59,331,680	T360K	probably damaging	Het
Ilkap	A	C	1: 91,384,623	C2G	possibly damaging	Het
Itih1	A	G	14: 30,938,071	F231S	probably damaging	Het
Jrkl	A	T	9: 13,244,908	Y249*	probably null	Het
Kat6a	AGAGGAGGAGGAGGAGGAGGAGGAG	AGAGGAGGAGGAGGAGGAGGAG	8: 22,935,647		probably benign	Het
Katnal2	A	T	18: 77,010,941	S184R	probably benign	Het
Kcnh5	T	A	12: 74,898,456		probably null	Het
Kcnj11	G	T	7: 46,099,357	L181I	probably damaging	Het
Klhl2	T	C	8: 64,749,770	T465A	probably benign	Het
Krt90	T	A	15: 101,562,611	Y72F	probably benign	Het
Lig4	G	A	8: 9,972,766	T338I	probably benign	Het
Magel2	T	C	7: 62,380,792	V1148A	unknown	Het
Mak	C	A	13: 41,032,544	E549D	probably benign	Het
Marf1	G	T	16: 14,132,429	S1001Y	probably damaging	Het
Mcoln1	G	A	8: 3,511,787	V446I	probably damaging	Het
Meig1	T	C	2: 3,409,253	N70S	probably benign	Het
Mfsd14a	G	A	3: 116,647,830	T108I	probably damaging	Het
Mocs1	G	A	17: 49,454,358	M493I	probably damaging	Het
Mrpl11	C	A	19: 4,962,469	A26E	probably damaging	Het
Myh6	A	T	14: 54,953,794	D863E	probably benign	Het
Myom2	T	A	8: 15,084,555	Y453N	probably damaging	Het
Nhlh1	A	G	1: 172,053,957	I114T	probably damaging	Het
Olfr131	G	T	17: 38,082,180	P266Q	probably damaging	Het
Olfr181	G	T	16: 58,926,123	F149L	probably benign	Het
Olfr508	C	G	7: 108,630,777	P262A	probably damaging	Het
Olfr533	A	C	7: 140,466,591	H130P	probably benign	Het
Olfr729	A	T	14: 50,148,697	M59K	probably damaging	Het
Pclo	T	C	5: 14,714,295	S976P	probably benign	Het
Pde3a	G	A	6: 141,483,914	E734K	possibly damaging	Het
Pdzd2	A	T	15: 12,375,793	S1419T	probably benign	Het
Pdzd8	T	A	19: 59,300,421	Y849F	probably damaging	Het
Phldb3	A	G	7: 24,612,645	E128G	probably damaging	Het
Polg	A	G	7: 79,461,720	I261T	possibly damaging	Het
Ppp1r35	T	C	5: 137,780,005	M254T	probably benign	Het
Ppp3ca	G	T	3: 136,890,450	R292M	possibly damaging	Het
Ptk7	T	A	17: 46,579,617	T430S	probably benign	Het
Ptrh1	T	A	2: 32,777,028	N144K	possibly damaging	Het
Rbfox1	A	G	16: 7,294,082	T211A	possibly damaging	Het
Rbpjl	A	G	2: 164,414,423	D443G	possibly damaging	Het
Rcc1	A	G	4: 132,338,049		probably null	Het
Rimbp2	G	T	5: 128,788,165	S706R	probably damaging	Het
Rsph10b	G	C	5: 143,961,256	E96D	probably benign	Het
Scn10a	A	T	9: 119,609,448	I1784K	probably benign	Het
Sfxn2	A	G	19: 46,591,546		probably null	Het
Slamf6	T	A	1: 171,938,008	L233Q	probably damaging	Het
Slc17a5	A	T	9: 78,577,173	Y102N	probably damaging	Het
Slc25a53	T	C	X: 136,983,467	T42A	probably damaging	Het
Smg7	G	A	1: 152,840,313	T1057I	possibly damaging	Het
Speer2	T	A	16: 69,860,597	T53S	possibly damaging	Het
Srm	A	C	4: 148,592,491	I100L	probably benign	Het
Stoml3	A	C	3: 53,507,587	N267H	probably damaging	Het
Thsd7a	A	C	6: 12,379,633	C931G	probably damaging	Het
Tlr11	A	G	14: 50,360,682	I42V	probably benign	Het
Tmigd1	T	C	11: 76,910,173	V162A	probably benign	Het
Tmx3	A	G	18: 90,510,381		probably null	Het
Topors	T	A	4: 40,262,790	R165W	possibly damaging	Het
Ttc17	A	T	2: 94,366,642	S453R	possibly damaging	Het
Vmn1r49	G	T	6: 90,072,459	T187N	probably damaging	Het
Zbtb49	A	T	5: 38,214,120	V139E	possibly damaging	Het
Zfp11	T	C	5: 129,657,152	H415R	probably damaging	Het
Zfp677	A	T	17: 21,397,708	K342N	probably benign	Het
Zfp979	A	C	4: 147,613,458	C265G	possibly damaging	Het
Zfpl1	T	C	19: 6,084,429	R9G	probably damaging	Het
Zkscan8	A	T	13: 21,520,589	C321*	probably null	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
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
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
V1662:Arhgef2	UTSW	3	88633329	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCATTGGTTGAACTCTCTC -3'
(R):5'- AATGGGTTTTGCCTCTGACTC -3'

Sequencing Primer
(F):5'- TCTCTCATGCTGGACCAGG -3'
(R):5'- CTTCCCCTTGCAAGGCCAAAG -3'

Posted On

2014-10-01