Mutagenetix > Incidental Mutation

Incidental Mutation 'R2105:Arhgef15'

230888

Institutional Source

Beutler Lab

Gene Symbol

Arhgef15

Ensembl Gene

ENSMUSG00000052921

Gene Name

Rho guanine nucleotide exchange factor (GEF) 15

Synonyms

MMRRC Submission

040109-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2105 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68943155-68957480 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 68947681 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104311 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065040] [ENSMUST00000108671]

AlphaFold

Q5FWH6

Predicted Effect

probably null
Transcript: ENSMUST00000065040

SMART Domains

Protein: ENSMUSP00000067684
Gene: ENSMUSG00000052921

Domain	Start	End	E-Value	Type
low complexity region	6	36	N/A	INTRINSIC
low complexity region	65	79	N/A	INTRINSIC
low complexity region	84	127	N/A	INTRINSIC
low complexity region	202	221	N/A	INTRINSIC
low complexity region	275	285	N/A	INTRINSIC
low complexity region	335	349	N/A	INTRINSIC
RhoGEF	429	608	1.76e-50	SMART
low complexity region	670	680	N/A	INTRINSIC
Blast:RhoGEF	688	746	1e-22	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108670

Predicted Effect

probably null
Transcript: ENSMUST00000108671

SMART Domains

Protein: ENSMUSP00000104311
Gene: ENSMUSG00000052921

Domain	Start	End	E-Value	Type
low complexity region	6	36	N/A	INTRINSIC
low complexity region	65	79	N/A	INTRINSIC
low complexity region	84	127	N/A	INTRINSIC
low complexity region	202	221	N/A	INTRINSIC
low complexity region	275	285	N/A	INTRINSIC
low complexity region	335	349	N/A	INTRINSIC
RhoGEF	429	608	1.76e-50	SMART
low complexity region	670	680	N/A	INTRINSIC
Blast:RhoGEF	688	746	1e-22	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141747

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151520

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. Two alternatively spliced transcripts variants that encode the same protein have been found for this gene. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock out allele exhibit increased excitatory synapse formation. Mice homozygous for a knock-out allele exhibit delayed radial growth, sparse vasculature and empty baselment membrane sleeves in the retina. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,673,500	P1189L	probably benign	Het
Acbd4	G	A	11: 103,104,439	D57N	probably damaging	Het
Acot4	A	T	12: 84,038,742	M78L	probably damaging	Het
Ago1	A	T	4: 126,461,788	M76K	probably benign	Het
Agrn	G	T	4: 156,177,299	Y511*	probably null	Het
Atp1a3	A	T	7: 24,989,853	M594K	probably damaging	Het
Atp4a	G	A	7: 30,720,368		probably null	Het
Bckdk	T	A	7: 127,907,317	I272N	probably damaging	Het
Bod1l	A	G	5: 41,832,279	V367A	probably benign	Het
C1galt1c1	T	C	X: 38,631,268	M284V	possibly damaging	Het
Cenpk	T	A	13: 104,229,597	C4*	probably null	Het
Cfap53	T	C	18: 74,283,223	V9A	possibly damaging	Het
Chil3	T	C	3: 106,160,478	I124V	possibly damaging	Het
Creld2	G	A	15: 88,820,631	W103*	probably null	Het
Cyp2c67	T	C	19: 39,626,237	Y282C	probably benign	Het
D5Ertd579e	C	T	5: 36,613,449	A1201T	probably benign	Het
Dock4	A	G	12: 40,692,989	H381R	probably benign	Het
Drc1	C	T	5: 30,356,441	S447F	probably benign	Het
Fam83g	G	T	11: 61,703,458	R606L	probably benign	Het
Fmnl1	A	C	11: 103,194,692	S688R	probably benign	Het
Fryl	C	T	5: 73,122,299	V219I	probably benign	Het
Gm13101	A	T	4: 143,965,820	Y204N	probably benign	Het
Golgb1	T	A	16: 36,914,664	N1424K	probably benign	Het
Gpr39	T	C	1: 125,677,884	V183A	possibly damaging	Het
H2-T22	A	T	17: 36,040,517	Y274N	probably benign	Het
Hif1a	T	A	12: 73,937,745	Y313N	probably damaging	Het
Hip1r	T	A	5: 124,000,204	M787K	probably damaging	Het
Hipk3	T	C	2: 104,439,392	E484G	probably damaging	Het
Hsh2d	T	A	8: 72,200,646	F291I	probably benign	Het
Ino80	T	C	2: 119,431,929	E692G	probably null	Het
Itgam	T	A	7: 128,081,712	V271D	probably damaging	Het
Kansl1	A	C	11: 104,335,559	I924S	probably damaging	Het
Kcnq2	A	G	2: 181,081,352	C628R	probably benign	Het
Krt78	A	C	15: 101,947,414	V654G	possibly damaging	Het
Lrit2	A	G	14: 37,071,956	T326A	probably damaging	Het
Ltk	T	C	2: 119,752,088	E710G	probably damaging	Het
Lysmd1	T	C	3: 95,134,974	L53S	probably damaging	Het
Mc4r	T	C	18: 66,859,598	Y148C	probably damaging	Het
Mfn2	G	A	4: 147,888,705	Q172*	probably null	Het
Mknk2	A	G	10: 80,668,601	L242P	possibly damaging	Het
Mrpl45	A	T	11: 97,325,747	H167L	probably benign	Het
Myc	T	C	15: 61,988,102	V208A	probably damaging	Het
Myh7b	A	G	2: 155,629,457	E1175G	probably benign	Het
Myo18a	A	T	11: 77,850,234	M1456L	probably benign	Het
Myocd	G	A	11: 65,218,658	Q96*	probably null	Het
Nckap5	T	A	1: 126,026,518	I766F	probably damaging	Het
Ndst1	T	C	18: 60,691,253	E784G	probably benign	Het
Nf1	A	T	11: 79,469,826	R1443S	possibly damaging	Het
Nhlrc3	A	G	3: 53,453,651	W228R	probably damaging	Het
Nup107	G	A	10: 117,773,320	T378I	probably damaging	Het
Olfr1033	C	T	2: 86,041,330	T5I	probably damaging	Het
Olfr1131	A	G	2: 87,628,939	T159A	probably benign	Het
Olfr293	A	T	7: 86,664,383	K240N	probably damaging	Het
Olfr524	T	A	7: 140,202,743	D9V	probably benign	Het
Olfr607	T	A	7: 103,460,273		probably null	Het
Olfr98	A	T	17: 37,263,073	M197K	probably benign	Het
Otop1	A	G	5: 38,300,458	D520G	probably benign	Het
Papln	C	T	12: 83,780,236	P712S	probably benign	Het
Pcbd2	T	A	13: 55,733,033	I34N	probably damaging	Het
Pkd1l3	T	A	8: 109,647,573	C29*	probably null	Het
Pou5f1	G	A	17: 35,510,002	V114M	probably benign	Het
Prpf4b	C	A	13: 34,884,231		probably benign	Het
Prr23a1	C	T	9: 98,842,656	P24S	probably damaging	Het
Ptch1	T	A	13: 63,545,245	M65L	probably benign	Het
Rc3h2	A	T	2: 37,399,624	I392K	possibly damaging	Het
Reck	G	T	4: 43,943,195	D916Y	probably damaging	Het
Rtf2	A	G	2: 172,445,365	D68G	probably damaging	Het
Ryr1	G	T	7: 29,090,150	T1513K	probably damaging	Het
Sacs	A	G	14: 61,173,441	D55G	possibly damaging	Het
Scn9a	A	G	2: 66,568,183	S28P	probably benign	Het
Scrn3	A	G	2: 73,329,852	M280V	probably damaging	Het
Snx29	C	T	16: 11,511,034	T559I	possibly damaging	Het
Spn	C	T	7: 127,136,241	E109K	probably damaging	Het
Sra1	C	T	18: 36,675,068	R369H	probably benign	Het
Srsf11	C	T	3: 158,019,345	A64T	probably damaging	Het
Stk17b	A	G	1: 53,776,605	S12P	probably benign	Het
Sult1d1	C	A	5: 87,559,802	G153V	probably damaging	Het
Sycp2	A	T	2: 178,350,138		probably null	Het
Tgfb3	T	C	12: 86,069,769	E165G	possibly damaging	Het
Tns2	C	A	15: 102,107,506	H160N	probably benign	Het
Ubn1	T	A	16: 5,077,224	C711*	probably null	Het
Usp13	A	T	3: 32,901,986	D469V	probably damaging	Het
Vmn1r231	A	T	17: 20,890,118	H178Q	possibly damaging	Het
Vwa1	A	G	4: 155,772,793	S183P	probably damaging	Het
Xpo7	A	G	14: 70,690,991	I424T	probably benign	Het
Zfp109	A	G	7: 24,236,616		probably null	Het

Other mutations in Arhgef15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00929:Arhgef15	APN	11	68954102	missense	probably damaging	1.00
IGL02382:Arhgef15	APN	11	68954030	missense	probably damaging	0.98
R0041:Arhgef15	UTSW	11	68954516	missense	possibly damaging	0.92
R0208:Arhgef15	UTSW	11	68946373	missense	probably benign	0.09
R0276:Arhgef15	UTSW	11	68953472	splice site	probably benign
R0368:Arhgef15	UTSW	11	68954693	missense	probably damaging	0.99
R0706:Arhgef15	UTSW	11	68954576	missense	probably damaging	1.00
R1628:Arhgef15	UTSW	11	68944814	missense	possibly damaging	0.86
R1966:Arhgef15	UTSW	11	68954675	missense	probably damaging	1.00
R2278:Arhgef15	UTSW	11	68951691	missense	probably damaging	1.00
R4667:Arhgef15	UTSW	11	68954561	missense	probably benign	0.00
R4836:Arhgef15	UTSW	11	68949925	intron	probably benign
R4898:Arhgef15	UTSW	11	68951345	missense	probably benign	0.00
R4966:Arhgef15	UTSW	11	68947317	missense	probably benign	0.08
R5304:Arhgef15	UTSW	11	68947237	missense	probably null	0.32
R5333:Arhgef15	UTSW	11	68947196	intron	probably benign
R5546:Arhgef15	UTSW	11	68954051	missense	probably benign	0.01
R5632:Arhgef15	UTSW	11	68954051	missense	probably benign	0.01
R5707:Arhgef15	UTSW	11	68954715	missense	probably damaging	0.98
R5839:Arhgef15	UTSW	11	68954156	missense	probably benign	0.00
R5926:Arhgef15	UTSW	11	68951955	missense	possibly damaging	0.76
R6376:Arhgef15	UTSW	11	68954970	missense	unknown
R6429:Arhgef15	UTSW	11	68947796	missense	probably damaging	1.00
R6526:Arhgef15	UTSW	11	68949994	missense	probably damaging	1.00
R6749:Arhgef15	UTSW	11	68954557	missense	probably damaging	0.99
R7460:Arhgef15	UTSW	11	68947035	missense	probably damaging	1.00
R7529:Arhgef15	UTSW	11	68954022	missense	probably damaging	1.00
R7598:Arhgef15	UTSW	11	68946410	missense	probably damaging	1.00
R7767:Arhgef15	UTSW	11	68953847	missense	probably damaging	0.99
R7919:Arhgef15	UTSW	11	68947605	missense	probably benign	0.00
R8488:Arhgef15	UTSW	11	68947670	critical splice acceptor site	probably null
R8818:Arhgef15	UTSW	11	68951112	missense	probably damaging	0.99
R9415:Arhgef15	UTSW	11	68951407	missense	probably damaging	1.00
R9663:Arhgef15	UTSW	11	68954429	missense	probably damaging	1.00
X0067:Arhgef15	UTSW	11	68944830	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTTGGGCTGAGTGATAAGCAG -3'
(R):5'- GGAACACCTAGCAAAGCTGG -3'

Sequencing Primer
(F):5'- CTGAGTGATAAGCAGCAGGTCAC -3'
(R):5'- CTAGCAAAGCTGGGCTGG -3'

Posted On

2014-09-18