Mutagenetix > Incidental Mutations

Incidental Mutation 'R3916:Arhgef2'

309728

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

Is this an essential gene?

Possibly essential (E-score: 0.737) question?

Stock #

R3916 (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 88633033 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 127 (N127S)

Ref Sequence

ENSEMBL: ENSMUSP00000135131 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000029694
AA Change: N154S

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

SMART Domains

Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059
AA Change: N154S

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: N127S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103134
Gene: ENSMUSG00000028059
AA Change: N127S

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: N125S

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

SMART Domains

Protein: ENSMUSP00000127843
Gene: ENSMUSG00000028059
AA Change: N125S

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: N139S

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

SMART Domains

Protein: ENSMUSP00000135177
Gene: ENSMUSG00000028059
AA Change: N139S

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: N139S

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

SMART Domains

Protein: ENSMUSP00000135168
Gene: ENSMUSG00000028059
AA Change: N139S

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: N146S

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

SMART Domains

Protein: ENSMUSP00000135428
Gene: ENSMUSG00000028059
AA Change: N146S

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: N125S

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

SMART Domains

Protein: ENSMUSP00000135771
Gene: ENSMUSG00000028059
AA Change: N125S

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

noncoding transcript
Transcript: ENSMUST00000177091

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176401

Predicted Effect

probably damaging
Transcript: ENSMUST00000176500
AA Change: N139S

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

SMART Domains

Protein: ENSMUSP00000134834
Gene: ENSMUSG00000028059
AA Change: N139S

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 damaging
Transcript: ENSMUST00000176539
AA Change: N139S

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

SMART Domains

Protein: ENSMUSP00000135612
Gene: ENSMUSG00000028059
AA Change: N139S

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: N154S

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

SMART Domains

Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059
AA Change: N154S

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: ENSMUST00000177023
AA Change: N137S

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

SMART Domains

Protein: ENSMUSP00000134859
Gene: ENSMUSG00000028059
AA Change: N137S

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: ENSMUST00000177303
AA Change: N127S

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

SMART Domains

Protein: ENSMUSP00000135131
Gene: ENSMUSG00000028059
AA Change: N127S

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: ENSMUST00000177498
AA Change: N137S

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

SMART Domains

Protein: ENSMUSP00000134840
Gene: ENSMUSG00000028059
AA Change: N137S

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: ENSMUST00000177120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177418

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: 99.2%
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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	G	2: 68,731,985	F319V	possibly damaging	Het
Acad12	A	G	5: 121,599,214	V498A	probably damaging	Het
Adam19	A	G	11: 46,060,935	E37G	probably benign	Het
Anks3	A	G	16: 4,947,279	Y423H	probably damaging	Het
Arfgef1	A	T	1: 10,189,443	V600D	probably benign	Het
Arhgef18	T	C	8: 3,454,197	F939L	probably benign	Het
Arid1b	A	G	17: 5,342,653	S2100G	probably benign	Het
Atp1b2	A	G	11: 69,603,075	V93A	probably damaging	Het
Atrnl1	T	C	19: 57,935,652	V1283A	possibly damaging	Het
Bpifb5	A	C	2: 154,228,181	K184Q	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cant1	A	G	11: 118,408,746	V259A	probably damaging	Het
Ccdc89	A	G	7: 90,426,825	D81G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cntnap4	C	G	8: 112,875,533	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,508,611	Y567*	probably null	Het
Cyp4f18	A	T	8: 71,996,037	F256Y	probably benign	Het
Ddx41	G	A	13: 55,534,480	R205W	possibly damaging	Het
Dopey1	G	A	9: 86,521,133	R1462H	probably damaging	Het
Dync1i2	A	G	2: 71,249,372	T377A	probably damaging	Het
F2	G	A	2: 91,625,488	T600M	probably damaging	Het
Fam91a1	C	T	15: 58,430,734	H308Y	probably damaging	Het
Fkbp2	C	A	19: 6,978,557		probably null	Het
Gabarapl2	T	A	8: 111,952,396	F115L	probably benign	Het
Heatr3	T	G	8: 88,150,371		probably null	Het
Ifi204	T	G	1: 173,755,775	K292N	possibly damaging	Het
Itpkc	A	T	7: 27,228,303	I62N	probably benign	Het
Kcnab1	G	A	3: 65,304,164		probably null	Het
Krt88	G	A	15: 101,452,928		probably null	Het
Larp4	C	T	15: 99,990,403	T107I	probably benign	Het
Lmo7	T	C	14: 101,929,342		probably benign	Het
Lrrc37a	T	C	11: 103,455,518	Y3174C	possibly damaging	Het
Lyzl4	T	A	9: 121,583,035	D105V	probably damaging	Het
Mst1	A	G	9: 108,084,295	I575V	probably benign	Het
Myh7	C	A	14: 54,974,046	E1555D	probably damaging	Het
Nwd1	T	A	8: 72,667,811	C608*	probably null	Het
Obox3	C	A	7: 15,627,226	C38F	probably benign	Het
P4ha2	A	G	11: 54,126,248	D441G	probably benign	Het
Pcdhb14	A	T	18: 37,448,545	I235F	possibly damaging	Het
Rasgrf2	A	G	13: 92,030,788	V259A	probably damaging	Het
Scn1a	T	C	2: 66,277,613	T1590A	probably damaging	Het
Sdk1	T	A	5: 142,051,244	D817E	probably damaging	Het
Sema3b	A	G	9: 107,600,458	F482S	probably damaging	Het
Slc35a5	G	C	16: 45,158,158		probably benign	Het
Slc6a3	A	G	13: 73,562,308	I346V	probably benign	Het
Slu7	G	T	11: 43,440,684		probably null	Het
Spns1	A	T	7: 126,371,539		probably null	Het
Supv3l1	T	C	10: 62,449,420	D89G	possibly damaging	Het
Taf1c	G	A	8: 119,600,505	R412W	probably damaging	Het
Tctn3	T	A	19: 40,607,649	T305S	possibly damaging	Het
Tekt1	A	G	11: 72,345,748	I296T	possibly damaging	Het
Tet2	T	C	3: 133,486,055	K873E	possibly damaging	Het
Thada	G	A	17: 84,441,782	A587V	possibly damaging	Het
Tmprss15	T	A	16: 78,985,996	N712Y	probably damaging	Het
Tnks	A	G	8: 34,853,361	S719P	probably damaging	Het
Tnrc6a	A	C	7: 123,181,384	Q1332H	probably damaging	Het
Trpv3	A	G	11: 73,283,734	D309G	possibly damaging	Het
Tti2	A	G	8: 31,153,519	K221E	possibly damaging	Het
Uba5	A	T	9: 104,054,190	C227S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc80	T	C	1: 66,677,495	C2925R	probably benign	Het
Vmn2r83	G	A	10: 79,478,910	G331R	probably benign	Het
Xirp2	G	T	2: 67,511,422	V1336F	probably benign	Het
Zbed5	T	C	5: 129,902,277	Y356H	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
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
V1662:Arhgef2	UTSW	3	88633329	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCCTCTTAGGGAGCTGAG -3'
(R):5'- TCTGAAGGAAGTGGAGGCCATC -3'

Sequencing Primer
(F):5'- AGACAGTTCCCCATGGCTC -3'
(R):5'- GAGGTCCCTTCCCAGGTTG -3'

Posted On

2015-04-17