Mutagenetix > Incidental Mutation

Incidental Mutation 'R0414:Arhgef2'

216192

Institutional Source

Beutler Lab

Gene Symbol

Arhgef2

Ensembl Gene

ENSMUSG00000028059

Gene Name

Rho/Rac guanine nucleotide exchange factor 2

Synonyms

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

MMRRC Submission

038616-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.664) question?

Stock #

R0414 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

88513273-88555359 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 88539575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134840 (fasta)

Gene Model

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

AlphaFold

Q60875

Predicted Effect

probably benign
Transcript: ENSMUST00000029694

SMART Domains

Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059

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

SMART Domains

Protein: ENSMUSP00000103134
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	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

SMART Domains

Protein: ENSMUSP00000127843
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
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 benign
Transcript: ENSMUST00000175779

SMART Domains

Protein: ENSMUSP00000135177
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
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

SMART Domains

Protein: ENSMUSP00000135168
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
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

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: ENSMUST00000176804

SMART Domains

Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059

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: ENSMUST00000176528

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

noncoding transcript
Transcript: ENSMUST00000176401

Predicted Effect

probably benign
Transcript: ENSMUST00000176500

SMART Domains

Protein: ENSMUSP00000134834
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
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: 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

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: 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: 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

noncoding transcript
Transcript: ENSMUST00000176400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176079

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176123

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176301

Predicted Effect

probably benign
Transcript: ENSMUST00000177498

SMART Domains

Protein: ENSMUSP00000134840
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
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: ENSMUST00000177418

Predicted Effect

probably benign
Transcript: ENSMUST00000177303

SMART Domains

Protein: ENSMUSP00000135131
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	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: ENSMUST00000177091

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177120

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

96% (64/67)

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
1700016H13Rik	A	T	5: 103,797,356 (GRCm39)	V51E	probably benign	Het
Abo	T	C	2: 26,733,428 (GRCm39)	Y259C	probably damaging	Het
Adamts5	A	G	16: 85,674,794 (GRCm39)	S457P	probably damaging	Het
Alk	G	T	17: 72,206,281 (GRCm39)		probably benign	Het
Alpk2	A	G	18: 65,439,230 (GRCm39)	I1188T	probably benign	Het
Ambra1	T	C	2: 91,706,084 (GRCm39)	S730P	possibly damaging	Het
Atpsckmt	T	A	15: 31,617,148 (GRCm39)	Y126*	probably null	Het
B3gnt7	T	C	1: 86,233,351 (GRCm39)	I82T	probably damaging	Het
B4galnt3	T	C	6: 120,193,526 (GRCm39)	D400G	probably benign	Het
Bag4	A	G	8: 26,258,025 (GRCm39)	V434A	possibly damaging	Het
Cfap251	A	G	5: 123,425,476 (GRCm39)		probably null	Het
Cfc1	A	G	1: 34,576,409 (GRCm39)	D130G	probably damaging	Het
Chd4	T	C	6: 125,084,443 (GRCm39)	Y692H	probably damaging	Het
Cilp2	A	G	8: 70,335,643 (GRCm39)	S452P	probably benign	Het
Clec2m	T	C	6: 129,303,813 (GRCm39)		probably benign	Het
Crybg2	GAGAAGAAG	GAGAAG	4: 133,799,947 (GRCm39)		probably benign	Het
Dnah2	T	C	11: 69,390,064 (GRCm39)	D727G	probably benign	Het
Dock10	C	A	1: 80,513,650 (GRCm39)	V1129F	possibly damaging	Het
Dsc1	A	T	18: 20,221,411 (GRCm39)	I688N	possibly damaging	Het
Dyrk1a	C	G	16: 94,464,701 (GRCm39)	T103R	probably damaging	Het
Ebf1	C	T	11: 44,815,297 (GRCm39)	R304*	probably null	Het
Eif2s2	A	G	2: 154,726,381 (GRCm39)		probably benign	Het
Endov	T	G	11: 119,390,397 (GRCm39)	Y8*	probably null	Het
Eps15	T	A	4: 109,223,677 (GRCm39)	D485E	probably damaging	Het
Fam118a	C	A	15: 84,929,890 (GRCm39)	S39R	probably damaging	Het
Fbxo22	T	A	9: 55,130,910 (GRCm39)	M393K	possibly damaging	Het
Firrm	T	C	1: 163,795,890 (GRCm39)	I434V	probably benign	Het
Gab1	A	G	8: 81,526,918 (GRCm39)	I60T	probably damaging	Het
Gapvd1	A	G	2: 34,583,439 (GRCm39)	L1059P	probably benign	Het
Gbp5	A	G	3: 142,213,674 (GRCm39)		probably null	Het
Glb1l2	T	A	9: 26,676,400 (GRCm39)	K487*	probably null	Het
H1f1	A	G	13: 23,948,141 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,591,573 (GRCm39)	I1875M	possibly damaging	Het
Jkamp	T	C	12: 72,140,919 (GRCm39)		probably null	Het
Kprp	C	T	3: 92,733,020 (GRCm39)	C10Y	probably damaging	Het
Lrig2	A	G	3: 104,401,372 (GRCm39)		probably null	Het
Lrrn3	T	A	12: 41,503,939 (GRCm39)	N126I	probably damaging	Het
Mug1	T	C	6: 121,833,513 (GRCm39)	F325L	probably benign	Het
Myadm	AC	ACC	7: 3,345,276 (GRCm39)		probably null	Het
Nagk	C	T	6: 83,774,249 (GRCm39)	R87*	probably null	Het
Nipal4	T	A	11: 46,052,735 (GRCm39)	I77F	probably damaging	Het
Or4c112	A	G	2: 88,853,490 (GRCm39)	Y286H	probably damaging	Het
Osbp2	T	C	11: 3,769,932 (GRCm39)	H250R	probably damaging	Het
Pcx	T	C	19: 4,657,670 (GRCm39)	V378A	possibly damaging	Het
Pfkp	T	A	13: 6,643,246 (GRCm39)	H524L	probably benign	Het
Picalm	A	T	7: 89,838,406 (GRCm39)	N370I	possibly damaging	Het
Plcl2	A	C	17: 50,914,983 (GRCm39)	D664A	possibly damaging	Het
Ptpn5	G	A	7: 46,732,884 (GRCm39)	P320S	probably benign	Het
Scn3a	T	A	2: 65,356,326 (GRCm39)		probably benign	Het
Sfswap	A	G	5: 129,581,115 (GRCm39)	D96G	possibly damaging	Het
Slfn1	A	G	11: 83,012,096 (GRCm39)	I71V	probably benign	Het
Spata1	A	G	3: 146,181,943 (GRCm39)		probably null	Het
Stx18	T	C	5: 38,262,349 (GRCm39)		probably benign	Het
Suox	T	A	10: 128,507,326 (GRCm39)	H234L	probably benign	Het
Tbc1d17	T	C	7: 44,495,483 (GRCm39)	S114G	probably benign	Het
Tfeb	T	A	17: 48,099,224 (GRCm39)		probably null	Het
Tnks	A	C	8: 35,320,463 (GRCm39)	V736G	probably damaging	Het
Wdhd1	T	C	14: 47,514,045 (GRCm39)	T4A	probably benign	Het

Other mutations in Arhgef2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01913:Arhgef2	APN	3	88,539,226 (GRCm39)	missense	probably damaging	1.00
IGL02165:Arhgef2	APN	3	88,553,527 (GRCm39)	missense	probably damaging	1.00
monument	UTSW	3	88,540,955 (GRCm39)	critical splice donor site	probably null
R0090:Arhgef2	UTSW	3	88,546,655 (GRCm39)	missense	probably damaging	1.00
R0330:Arhgef2	UTSW	3	88,549,808 (GRCm39)	missense	probably damaging	1.00
R0631:Arhgef2	UTSW	3	88,541,743 (GRCm39)	missense	probably damaging	0.99
R1635:Arhgef2	UTSW	3	88,546,628 (GRCm39)	critical splice acceptor site	probably null
R1688:Arhgef2	UTSW	3	88,547,607 (GRCm39)	missense	probably benign	0.32
R1751:Arhgef2	UTSW	3	88,551,260 (GRCm39)	missense	probably damaging	1.00
R1767:Arhgef2	UTSW	3	88,551,260 (GRCm39)	missense	probably damaging	1.00
R1836:Arhgef2	UTSW	3	88,546,766 (GRCm39)	missense	probably damaging	1.00
R1853:Arhgef2	UTSW	3	88,540,222 (GRCm39)	missense	possibly damaging	0.48
R1934:Arhgef2	UTSW	3	88,537,098 (GRCm39)	missense	probably damaging	0.96
R2155:Arhgef2	UTSW	3	88,543,351 (GRCm39)	missense	probably damaging	1.00
R2206:Arhgef2	UTSW	3	88,537,221 (GRCm39)	missense	probably damaging	1.00
R2360:Arhgef2	UTSW	3	88,541,723 (GRCm39)	missense	probably damaging	1.00
R3916:Arhgef2	UTSW	3	88,540,340 (GRCm39)	missense	probably damaging	1.00
R4090:Arhgef2	UTSW	3	88,551,185 (GRCm39)	missense	probably benign	0.01
R4732:Arhgef2	UTSW	3	88,539,247 (GRCm39)	nonsense	probably null
R4733:Arhgef2	UTSW	3	88,539,247 (GRCm39)	nonsense	probably null
R4837:Arhgef2	UTSW	3	88,540,250 (GRCm39)	missense	probably damaging	1.00
R4952:Arhgef2	UTSW	3	88,549,769 (GRCm39)	missense	probably damaging	1.00
R5152:Arhgef2	UTSW	3	88,536,875 (GRCm39)	splice site	probably null
R5194:Arhgef2	UTSW	3	88,542,956 (GRCm39)	missense	probably damaging	1.00
R5250:Arhgef2	UTSW	3	88,540,955 (GRCm39)	critical splice donor site	probably null
R5334:Arhgef2	UTSW	3	88,553,636 (GRCm39)	missense	probably damaging	0.96
R5514:Arhgef2	UTSW	3	88,550,304 (GRCm39)	missense	probably benign	0.01
R5560:Arhgef2	UTSW	3	88,541,744 (GRCm39)	missense	probably damaging	0.97
R5595:Arhgef2	UTSW	3	88,550,283 (GRCm39)	missense	probably benign	0.00
R5879:Arhgef2	UTSW	3	88,550,924 (GRCm39)	splice site	probably null
R5910:Arhgef2	UTSW	3	88,542,327 (GRCm39)	missense	probably damaging	1.00
R5914:Arhgef2	UTSW	3	88,543,176 (GRCm39)	missense	probably benign
R5918:Arhgef2	UTSW	3	88,543,387 (GRCm39)	missense	probably damaging	1.00
R6181:Arhgef2	UTSW	3	88,542,927 (GRCm39)	missense	probably damaging	1.00
R6489:Arhgef2	UTSW	3	88,550,321 (GRCm39)	missense	probably damaging	1.00
R7167:Arhgef2	UTSW	3	88,551,179 (GRCm39)	missense	possibly damaging	0.56
R7289:Arhgef2	UTSW	3	88,543,192 (GRCm39)	missense	probably benign
R7318:Arhgef2	UTSW	3	88,539,610 (GRCm39)	missense	probably damaging	0.98
R7353:Arhgef2	UTSW	3	88,542,993 (GRCm39)	missense	possibly damaging	0.94
R7402:Arhgef2	UTSW	3	88,540,873 (GRCm39)	missense	probably damaging	1.00
R7441:Arhgef2	UTSW	3	88,551,262 (GRCm39)	missense	probably damaging	0.96
R7899:Arhgef2	UTSW	3	88,528,569 (GRCm39)	missense	probably damaging	1.00
R7934:Arhgef2	UTSW	3	88,537,221 (GRCm39)	missense	probably damaging	1.00
R8002:Arhgef2	UTSW	3	88,554,117 (GRCm39)	missense	probably damaging	1.00
R8254:Arhgef2	UTSW	3	88,549,910 (GRCm39)	missense	probably damaging	1.00
R8297:Arhgef2	UTSW	3	88,546,739 (GRCm39)	missense	probably benign	0.00
R8314:Arhgef2	UTSW	3	88,528,600 (GRCm39)	missense	probably benign	0.00
R8350:Arhgef2	UTSW	3	88,553,527 (GRCm39)	missense	probably damaging	1.00
R8450:Arhgef2	UTSW	3	88,553,527 (GRCm39)	missense	probably damaging	1.00
R8755:Arhgef2	UTSW	3	88,536,850 (GRCm39)	missense	probably benign	0.00
R9632:Arhgef2	UTSW	3	88,528,576 (GRCm39)	missense	probably benign	0.43
R9710:Arhgef2	UTSW	3	88,528,576 (GRCm39)	missense	probably benign	0.43
V1662:Arhgef2	UTSW	3	88,540,636 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTAAACACAGCCCTGCCAC -3'
(R):5'- GGCATCACGCTTTCCTGAACTGAC -3'

Sequencing Primer
(F):5'- ACACTAGTTTACCTATATCCCGATG -3'
(R):5'- TTCCTGAACTGACAGTGGAC -3'

Posted On

2014-07-29