Mutagenetix > Incidental Mutations

Incidental Mutation 'R5595:Arhgef2'

437758

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

043147-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.708) question?

Stock #

R5595 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88605966-88648052 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88642976 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 663 (T663A)

Ref Sequence

ENSEMBL: ENSMUSP00000134840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029694] [ENSMUST00000107510] [ENSMUST00000170653] [ENSMUST00000175779] [ENSMUST00000175903] [ENSMUST00000175911] [ENSMUST00000176500] [ENSMUST00000176804] [ENSMUST00000177303] [ENSMUST00000177498]

Predicted Effect

probably benign
Transcript: ENSMUST00000029694
AA Change: T680A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059
AA Change: T680A

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 benign
Transcript: ENSMUST00000107510
AA Change: T653A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103134
Gene: ENSMUSG00000028059
AA Change: T653A

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 benign
Transcript: ENSMUST00000170653
AA Change: T651A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127843
Gene: ENSMUSG00000028059
AA Change: T651A

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: ENSMUST00000175779
AA Change: T665A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135177
Gene: ENSMUSG00000028059
AA Change: T665A

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: ENSMUST00000175903
AA Change: T663A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135168
Gene: ENSMUSG00000028059
AA Change: T663A

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 benign
Transcript: ENSMUST00000175911

SMART Domains

Protein: ENSMUSP00000135428
Gene: ENSMUSG00000028059

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: ENSMUST00000176272

Predicted Effect

probably benign
Transcript: ENSMUST00000176500
AA Change: T665A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134834
Gene: ENSMUSG00000028059
AA Change: T665A

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: ENSMUST00000176804
AA Change: T678A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059
AA Change: T678A

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

noncoding transcript
Transcript: ENSMUST00000177099

Predicted Effect

probably benign
Transcript: ENSMUST00000177303
AA Change: T651A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135131
Gene: ENSMUSG00000028059
AA Change: T651A

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 benign
Transcript: ENSMUST00000177498
AA Change: T663A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134840
Gene: ENSMUSG00000028059
AA Change: T663A

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: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,864,279	F991S	probably benign	Het
4931406B18Rik	A	G	7: 43,497,872	I218T	possibly damaging	Het
4931440F15Rik	T	C	11: 29,824,288	N390D	probably benign	Het
9930111J21Rik2	C	T	11: 49,019,711	A632T	possibly damaging	Het
Akt1	A	T	12: 112,658,616	L166Q	probably null	Het
Alpk2	A	T	18: 65,266,248	D2086E	probably damaging	Het
Ankrd11	A	T	8: 122,894,304	C915*	probably null	Het
Ankrd44	A	T	1: 54,735,050	I398K	probably damaging	Het
Ankrd44	T	C	1: 54,762,347	T274A	probably damaging	Het
BC048403	T	C	10: 121,740,147		probably benign	Het
Btbd16	G	A	7: 130,823,303	M471I	possibly damaging	Het
Btbd16	C	A	7: 130,823,304	Q472K	probably damaging	Het
Cdc37	G	A	9: 21,143,213	R39C	probably damaging	Het
Cnnm1	A	G	19: 43,465,157	N537S	possibly damaging	Het
Cop1	T	A	1: 159,250,073	D159E	probably benign	Het
Crtac1	C	T	19: 42,413,951	V73I	probably benign	Het
Cryz	T	A	3: 154,606,518	V84E	probably damaging	Het
Ctnnd2	C	T	15: 30,669,543	L433F	probably benign	Het
Ctsq	C	A	13: 61,037,060	D271Y	probably benign	Het
Cyp3a25	A	C	5: 145,994,863		probably null	Het
Dmbt1	G	C	7: 131,054,067	W412C	probably benign	Het
Eif4e1b	G	A	13: 54,786,716	V131I	possibly damaging	Het
Epha1	A	G	6: 42,364,634	V494A	possibly damaging	Het
Fbxl4	T	C	4: 22,433,641	S593P	probably damaging	Het
Fbxo41	G	A	6: 85,479,901	P429S	probably benign	Het
Fgfr3	G	A	5: 33,730,003	C204Y	probably damaging	Het
Gbf1	T	C	19: 46,284,422	V1665A	possibly damaging	Het
Htt	T	A	5: 34,905,397	V2825E	probably damaging	Het
Irs1	A	T	1: 82,289,925	V190E	probably damaging	Het
Klk1	T	C	7: 44,228,737		probably null	Het
Kmt2d	T	C	15: 98,850,024		probably benign	Het
Meox1	T	C	11: 101,879,343	E186G	probably damaging	Het
Micu2	G	A	14: 57,971,744	R86W	probably damaging	Het
Mrgprb1	A	T	7: 48,447,684	I160K	probably damaging	Het
Nckap1l	T	A	15: 103,475,658	M561K	possibly damaging	Het
Olfr1199	A	T	2: 88,756,405	I90N	probably damaging	Het
Olfr605	A	T	7: 103,442,428	S232T	probably damaging	Het
Olfr689	A	T	7: 105,314,006	M1L	probably benign	Het
Otoa	T	A	7: 121,121,977	L405H	probably damaging	Het
Phyhip	A	T	14: 70,466,874	M178L	probably benign	Het
Pkd1l3	A	T	8: 109,655,520	N1630I	probably damaging	Het
Plek2	T	A	12: 78,894,109	T247S	probably benign	Het
Rhbdl3	T	C	11: 80,337,583	V293A	probably damaging	Het
Rock2	T	A	12: 16,942,809	F193Y	probably damaging	Het
Scn3a	C	T	2: 65,460,713	M1896I	probably benign	Het
Snrnp200	T	C	2: 127,226,013	V810A	probably damaging	Het
Taar4	G	A	10: 23,960,741	S83N	probably damaging	Het
Tdpoz4	A	T	3: 93,797,499	T368S	probably benign	Het
Tec	T	A	5: 72,768,744	I322F	possibly damaging	Het
Teddm2	T	C	1: 153,850,400	I190V	probably benign	Het
Tmem117	A	G	15: 95,094,884	E475G	probably damaging	Het
Trip10	T	A	17: 57,262,460	Y495N	probably damaging	Het
Ush2a	T	C	1: 188,906,498	V4035A	possibly damaging	Het
Utrn	C	T	10: 12,682,318	V1466M	possibly damaging	Het
Vasp	A	G	7: 19,257,891		probably benign	Het
Vmn1r89	A	T	7: 13,219,930	M130L	possibly damaging	Het
Vmn2r2	A	T	3: 64,126,615	D495E	possibly damaging	Het
Zfp213	A	G	17: 23,561,186	V120A	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
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
V1662:Arhgef2	UTSW	3	88633329	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGATGTCCCTTGGATGCCAC -3'
(R):5'- GCTCTACAGAGTTCAATGGAGCC -3'

Sequencing Primer
(F):5'- CCACATGGCTGACTGAAGC -3'
(R):5'- GCCTCTCCATCTGTTGCAGAAAAG -3'

Posted On

2016-10-26