Mutagenetix > Incidental Mutations

Incidental Mutation 'R7167:Arhgef2'

557970

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

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.724) question?

Stock #

R7167 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88605966-88648052 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88643872 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 780 (N780S)

Ref Sequence

ENSEMBL: ENSMUSP00000029694 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029694
AA Change: N780S

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059
AA Change: N780S

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

possibly damaging
Transcript: ENSMUST00000107510
AA Change: N753S

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103134
Gene: ENSMUSG00000028059
AA Change: N753S

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

possibly damaging
Transcript: ENSMUST00000170653
AA Change: N751S

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127843
Gene: ENSMUSG00000028059
AA Change: N751S

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: N765S

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000135177
Gene: ENSMUSG00000028059
AA Change: N765S

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: N763S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135168
Gene: ENSMUSG00000028059
AA Change: N763S

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: ENSMUST00000176500
AA Change: N765S

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134834
Gene: ENSMUSG00000028059
AA Change: N765S

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: N778S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059
AA Change: N778S

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: ENSMUST00000177303
AA Change: N751S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135131
Gene: ENSMUSG00000028059
AA Change: N751S

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

possibly damaging
Transcript: ENSMUST00000177498
AA Change: N763S

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134840
Gene: ENSMUSG00000028059
AA Change: N763S

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

94% (65/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,647,971	V436A	probably benign	Het
Abcc5	T	C	16: 20,405,501	T111A	possibly damaging	Het
Acsbg2	T	A	17: 56,857,000	D203V	probably benign	Het
Alpk2	G	T	18: 65,306,978	T448K	probably benign	Het
Atxn2l	T	C	7: 126,499,222	N252S	possibly damaging	Het
Bmpr1b	A	T	3: 141,863,080	L163Q	probably benign	Het
Clca2	T	C	3: 145,097,784	R100G	probably benign	Het
Col2a1	A	G	15: 98,000,456	I79T	unknown	Het
Csmd1	A	G	8: 15,926,524	V2898A	probably benign	Het
Cux1	G	A	5: 136,310,041		probably null	Het
Cyp2u1	A	G	3: 131,303,124	S2P	probably benign	Het
Daam1	C	A	12: 71,988,904	H958N	probably damaging	Het
Dnah7a	C	T	1: 53,503,776	V2412I	probably benign	Het
Ergic2	T	C	6: 148,206,635	R2G	probably damaging	Het
Fam159b	A	G	13: 104,863,658	V19A	probably damaging	Het
Fat2	T	C	11: 55,285,001	T1629A	possibly damaging	Het
Ftl1	T	A	7: 45,459,778		probably benign	Het
Fut8	T	C	12: 77,448,632	V332A	possibly damaging	Het
Gm28363	T	C	1: 117,727,389	S113P	probably damaging	Het
Gm6502	G	A	5: 94,317,125	A457T	possibly damaging	Het
Hfe	A	T	13: 23,708,069	V104E	probably damaging	Het
Ifih1	A	T	2: 62,598,896	N899K	probably benign	Het
Krt75	A	G	15: 101,568,315	S380P	possibly damaging	Het
Meiob	T	G	17: 24,836,445	F409V	probably damaging	Het
Mkrn2os	A	T	6: 115,585,513	I163N	probably damaging	Het
Nanos1	G	T	19: 60,756,608	G115W	probably damaging	Het
Naprt	C	T	15: 75,892,612	A276T	probably damaging	Het
Oas1e	G	T	5: 120,795,422	T26N	probably benign	Het
Olfr1179	A	G	2: 88,402,208	V242A	possibly damaging	Het
Olfr1279	T	C	2: 111,306,448	M81T	probably benign	Het
Olfr355	T	C	2: 36,927,521	I198V	probably benign	Het
Olfr53	T	A	7: 140,652,553	C191*	probably null	Het
Olfr766-ps1	T	G	10: 129,063,272	Q245P	probably damaging	Het
Olfr792	T	C	10: 129,540,738	L67P	possibly damaging	Het
Olfr967	T	C	9: 39,750,569	F61S	probably damaging	Het
Oog2	T	G	4: 144,195,175	D218E	probably benign	Het
Optn	T	C	2: 5,042,483	N207S	probably benign	Het
Oxnad1	G	T	14: 32,101,019	E236*	probably null	Het
Pcdha3	G	A	18: 36,946,993	A263T	probably damaging	Het
Pex13	A	T	11: 23,655,472	W253R	possibly damaging	Het
Pip5k1b	T	A	19: 24,397,069	E49D	probably benign	Het
Plau	C	A	14: 20,839,450	F194L	possibly damaging	Het
Ppm1n	A	G	7: 19,279,741	L95S	probably damaging	Het
Radil	G	T	5: 142,485,505		probably null	Het
Ralgapa2	C	T	2: 146,348,454	M1266I	probably benign	Het
Reln	A	T	5: 21,942,620	L2444Q	probably damaging	Het
Rims2	T	C	15: 39,437,077	V260A	probably benign	Het
Rnase2b	T	A	14: 51,162,765	V101E	probably damaging	Het
Rtp3	T	A	9: 110,986,704	T198S	probably benign	Het
Smad3	T	A	9: 63,666,153	D201V	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
Spata7	T	G	12: 98,664,296	F371C	probably damaging	Het
Stag1	T	G	9: 100,945,889	N990K	probably benign	Het
Tbx18	C	T	9: 87,707,830	A352T	probably damaging	Het
Thada	C	T	17: 84,230,963	R1539Q	probably benign	Het
Thrap3	A	C	4: 126,185,127		probably benign	Het
Tnks	G	A	8: 34,849,304	T887M	probably damaging	Het
Trap1	A	C	16: 4,052,928	V393G	probably damaging	Het
Trpm4	A	G	7: 45,327,719		probably null	Het
Trrap	G	T	5: 144,839,614	G3007C	probably benign	Het
U2surp	A	T	9: 95,481,673	N611K	probably damaging	Het
Usp12	A	G	5: 146,768,935		probably null	Het
Vmn1r200	A	G	13: 22,395,317	T97A	possibly damaging	Het
Vmn2r110	C	T	17: 20,574,179	V743I	probably benign	Het
Vps50	C	T	6: 3,600,256	T905M	probably damaging	Het
Wdr48	T	A	9: 119,907,789		probably null	Het
Zfp446	C	T	7: 12,978,122		probably benign	Het
Zfr	T	C	15: 12,180,929	S1012P	probably benign	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
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
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
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'- GAGTTAAGCTCTCTGGGACC -3'
(R):5'- CTCAAGTATAAAGCGTCGCCC -3'

Sequencing Primer
(F):5'- TGGGACCCGGGGATTGAG -3'
(R):5'- GGCTCGTTTTGGCCCAAG -3'

Posted On

2019-06-26