Mutagenetix > Incidental Mutation

Incidental Mutation 'R5250:Arhgef2'

484454

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

042821-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.664) question?

Stock #

R5250 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88513273-88555359 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 88540955 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] [ENSMUST00000176500] [ENSMUST00000176539] [ENSMUST00000176804] [ENSMUST00000176307] [ENSMUST00000176243] [ENSMUST00000176879] [ENSMUST00000177023] [ENSMUST00000176316] [ENSMUST00000177303] [ENSMUST00000177498]

AlphaFold

Q60875

Predicted Effect

probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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: ENSMUST00000176401

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176123

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176079

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: 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: 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

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: ENSMUST00000177091

Predicted Effect

probably null
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

probably null
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

noncoding transcript
Transcript: ENSMUST00000177120

Meta Mutation Damage Score

0.9591

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (60/60)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,135,182 (GRCm39)	K236*	probably null	Het
Adgre5	A	G	8: 84,460,069 (GRCm39)	V109A	probably benign	Het
Adora2a	T	C	10: 75,161,882 (GRCm39)	I7T	probably damaging	Het
Ankrd6	A	G	4: 32,860,335 (GRCm39)	V36A	probably damaging	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
Atg2b	G	A	12: 105,602,024 (GRCm39)	R1651W	probably damaging	Het
Atp6v0a1	T	A	11: 100,933,870 (GRCm39)	V553D	possibly damaging	Het
Bard1	G	A	1: 71,113,722 (GRCm39)	L420F	probably damaging	Het
Bcat1	C	G	6: 144,993,165 (GRCm39)		probably null	Het
Bpifb5	A	T	2: 154,066,881 (GRCm39)	N45Y	probably benign	Het
Btbd17	G	T	11: 114,682,234 (GRCm39)		probably benign	Het
Ccdc24	T	C	4: 117,726,826 (GRCm39)	T296A	possibly damaging	Het
Col11a1	A	G	3: 114,010,819 (GRCm39)		probably benign	Het
Cspg4b	A	G	13: 113,456,305 (GRCm39)	N784D	possibly damaging	Het
Dhx38	A	T	8: 110,283,152 (GRCm39)	V555D	probably damaging	Het
Dixdc1	T	G	9: 50,595,035 (GRCm39)	E230A	possibly damaging	Het
Dnah7b	T	G	1: 46,412,514 (GRCm39)	V4041G	probably damaging	Het
Dnhd1	A	T	7: 105,334,968 (GRCm39)	I1021L	probably damaging	Het
Fgl2	A	G	5: 21,580,521 (GRCm39)	S288G	possibly damaging	Het
Flt4	T	A	11: 49,521,227 (GRCm39)	I412N	possibly damaging	Het
Gabrb1	A	G	5: 72,026,922 (GRCm39)	I141V	possibly damaging	Het
Gpc2	A	G	5: 138,277,230 (GRCm39)	Y66H	probably damaging	Het
Hoxd3	C	T	2: 74,574,650 (GRCm39)	Q99*	probably null	Het
Inpp5d	T	C	1: 87,637,397 (GRCm39)	V781A	probably damaging	Het
Larp4b	T	C	13: 9,221,013 (GRCm39)		probably benign	Het
Lrrfip1	T	A	1: 91,043,618 (GRCm39)	S674R	possibly damaging	Het
Megf6	A	G	4: 154,340,467 (GRCm39)	T561A	possibly damaging	Het
Mpo	A	T	11: 87,694,259 (GRCm39)	Q83L	probably benign	Het
Mucl2	T	C	15: 103,927,733 (GRCm39)	N75D	possibly damaging	Het
Myh13	C	T	11: 67,218,085 (GRCm39)	Q53*	probably null	Het
Myot	T	A	18: 44,479,137 (GRCm39)	D291E	probably damaging	Het
Nae1	A	G	8: 105,257,023 (GRCm39)		probably null	Het
Ncoa2	A	T	1: 13,294,913 (GRCm39)	S2R	probably damaging	Het
Nktr	T	A	9: 121,578,858 (GRCm39)		probably benign	Het
Nrxn1	A	G	17: 90,842,869 (GRCm39)		probably benign	Het
Or10aa3	T	G	1: 173,878,838 (GRCm39)	F300V	probably benign	Het
Or14j4	A	G	17: 37,920,851 (GRCm39)	S264P	probably damaging	Het
Or5an1b	T	C	19: 12,299,430 (GRCm39)	T254A	probably benign	Het
P2rx2	T	C	5: 110,489,454 (GRCm39)	E160G	probably damaging	Het
Pcdhga11	A	T	18: 37,890,990 (GRCm39)	D666V	probably damaging	Het
Pcm1	A	T	8: 41,765,242 (GRCm39)	E1484D	probably damaging	Het
Pdia4	C	T	6: 47,773,619 (GRCm39)	A577T	possibly damaging	Het
Potefam1	T	G	2: 111,058,422 (GRCm39)	T124P	possibly damaging	Het
Ppm1e	T	C	11: 87,121,744 (GRCm39)	I738V	probably benign	Het
Ppp1r13b	G	T	12: 111,811,394 (GRCm39)	R165S	probably benign	Het
Rasgrp2	T	C	19: 6,454,343 (GRCm39)	W129R	probably damaging	Het
Smurf2	A	G	11: 106,747,005 (GRCm39)		probably null	Het
Spmap1	C	A	11: 97,663,553 (GRCm39)	W99L	possibly damaging	Het
Ubr2	G	T	17: 47,241,368 (GRCm39)	Q1729K	probably benign	Het
Zfp260	T	A	7: 29,804,392 (GRCm39)	H97Q	probably damaging	Het
Zfp429	G	T	13: 67,538,638 (GRCm39)	R269S	probably benign	Het
Zfp568	T	C	7: 29,716,655 (GRCm39)	V185A	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
R0414:Arhgef2	UTSW	3	88,539,575 (GRCm39)	splice site	probably benign
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
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'- GAATCGTGTTGGCAAGACGG -3'
(R):5'- CGAGGACTGACTTGAGCAAG -3'

Sequencing Primer
(F):5'- AGCTAGGCTCTGAGGTGC -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2017-07-19