Mutagenetix > Incidental Mutation

Incidental Mutation 'R0208:Arhgef15'

33483

Institutional Source

Beutler Lab

Gene Symbol

Arhgef15

Ensembl Gene

ENSMUSG00000052921

Gene Name

Rho guanine nucleotide exchange factor 15

Synonyms

D530030K12Rik

MMRRC Submission

038461-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0208 (G1)

Quality Score

159

Status

Validated

Chromosome

Chromosomal Location

68833981-68848306 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 68837199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 797 (N797K)

Ref Sequence

ENSEMBL: ENSMUSP00000104311 (fasta)

Gene Model

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

AlphaFold

Q5FWH6

Predicted Effect

probably benign
Transcript: ENSMUST00000065040
AA Change: N797K

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000067684
Gene: ENSMUSG00000052921
AA Change: N797K

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 benign
Transcript: ENSMUST00000108671
AA Change: N797K

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000104311
Gene: ENSMUSG00000052921
AA Change: N797K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.7%

Validation Efficiency

96% (67/70)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	C	T	3: 59,840,110 (GRCm39)	R61C	probably damaging	Het
Ackr4	A	G	9: 103,976,860 (GRCm39)	V29A	probably benign	Het
Adgrb1	T	C	15: 74,458,656 (GRCm39)	F313L	probably benign	Het
Arfgef2	C	T	2: 166,709,342 (GRCm39)	R1140W	probably damaging	Het
Arhgef5	A	G	6: 43,250,275 (GRCm39)	E342G	probably damaging	Het
Asb2	T	A	12: 103,291,530 (GRCm39)	N466Y	possibly damaging	Het
Atp8a1	A	T	5: 67,932,064 (GRCm39)		probably null	Het
Cacna1b	A	G	2: 24,497,492 (GRCm39)	S2140P	probably damaging	Het
Camsap2	G	C	1: 136,208,738 (GRCm39)	P918R	probably damaging	Het
Cdk7	G	T	13: 100,843,022 (GRCm39)	D202E	probably benign	Het
Cenpj	G	T	14: 56,801,427 (GRCm39)	A182E	probably benign	Het
Clstn3	A	G	6: 124,409,128 (GRCm39)		probably benign	Het
Col9a2	C	T	4: 120,909,485 (GRCm39)		probably benign	Het
D630045J12Rik	A	G	6: 38,116,385 (GRCm39)	M1745T	probably damaging	Het
Dnah11	A	C	12: 118,007,509 (GRCm39)	N2156K	probably damaging	Het
Dock3	G	T	9: 106,874,195 (GRCm39)	Y425*	probably null	Het
Eng	A	T	2: 32,569,005 (GRCm39)	T511S	probably benign	Het
Gcfc2	A	T	6: 81,920,444 (GRCm39)	S410C	probably null	Het
Grik3	T	A	4: 125,579,958 (GRCm39)	Y568N	probably damaging	Het
Gsr	T	A	8: 34,179,383 (GRCm39)	D330E	possibly damaging	Het
H2-M10.4	A	G	17: 36,771,375 (GRCm39)	W268R	probably damaging	Het
Hepacam2	A	T	6: 3,467,505 (GRCm39)		probably benign	Het
Hrct1	C	A	4: 43,727,384 (GRCm39)	T8K	possibly damaging	Het
Idua	T	A	5: 108,829,618 (GRCm39)	F447I	probably damaging	Het
Il2ra	T	C	2: 11,686,828 (GRCm39)		probably benign	Het
Ipcef1	A	G	10: 6,870,062 (GRCm39)	S113P	probably damaging	Het
Klk1b9	T	A	7: 43,628,854 (GRCm39)	N119K	possibly damaging	Het
Krtap9-3	C	A	11: 99,488,663 (GRCm39)	C73F	probably damaging	Het
Loxhd1	T	A	18: 77,492,562 (GRCm39)	F1334L	possibly damaging	Het
Med1	A	G	11: 98,046,515 (GRCm39)		probably benign	Het
Med13	A	G	11: 86,191,682 (GRCm39)		probably benign	Het
Mtor	C	A	4: 148,549,432 (GRCm39)	H605Q	probably benign	Het
Muc19	A	G	15: 91,777,218 (GRCm39)		noncoding transcript	Het
Mybphl	T	C	3: 108,282,731 (GRCm39)	V207A	probably damaging	Het
Nptxr	A	T	15: 79,673,916 (GRCm39)	C366S	probably null	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5p73	A	G	7: 108,064,750 (GRCm39)	D73G	probably damaging	Het
Or8h9	G	T	2: 86,789,748 (GRCm39)	T18K	probably damaging	Het
Pcdhb18	T	C	18: 37,623,240 (GRCm39)	I190T	possibly damaging	Het
Pde3b	A	G	7: 114,097,216 (GRCm39)	T428A	probably benign	Het
Pgbd1	A	C	13: 21,618,651 (GRCm39)	L2R	probably damaging	Het
Pkp4	A	G	2: 59,096,780 (GRCm39)	I61V	probably damaging	Het
Pold4	T	G	19: 4,282,593 (GRCm39)	Y58*	probably null	Het
Polr1d	A	C	5: 147,015,490 (GRCm39)		probably null	Het
Prex2	T	A	1: 11,355,368 (GRCm39)	D1556E	probably damaging	Het
Psmd1	T	C	1: 86,061,463 (GRCm39)	V891A	possibly damaging	Het
Rasip1	C	A	7: 45,281,999 (GRCm39)	P501T	probably damaging	Het
Scgb2b27	C	A	7: 33,711,562 (GRCm39)	E96*	probably null	Het
Sec16b	G	T	1: 157,380,505 (GRCm39)	G359*	probably null	Het
Secisbp2	A	G	13: 51,833,881 (GRCm39)	T674A	probably benign	Het
Serpinb6c	G	A	13: 34,081,379 (GRCm39)	S90L	probably benign	Het
Sgsm2	A	G	11: 74,759,067 (GRCm39)	I170T	probably damaging	Het
Slc28a1	A	T	7: 80,767,454 (GRCm39)		probably benign	Het
Slc35d1	T	C	4: 103,065,351 (GRCm39)	T177A	probably damaging	Het
Spg11	C	T	2: 121,886,177 (GRCm39)		probably null	Het
Spint1	T	C	2: 119,078,826 (GRCm39)		probably benign	Het
Spta1	A	G	1: 174,020,526 (GRCm39)	H545R	probably damaging	Het
Tada3	A	T	6: 113,343,968 (GRCm39)	L227Q	probably damaging	Het
Tln1	C	T	4: 43,549,151 (GRCm39)	V644M	probably damaging	Het
Unc79	G	A	12: 103,058,286 (GRCm39)	V1016I	probably benign	Het
Usf3	C	A	16: 44,037,269 (GRCm39)	A583E	probably damaging	Het
Ush2a	A	C	1: 188,263,958 (GRCm39)	I1612L	probably damaging	Het
Vmn2r6	T	C	3: 64,447,333 (GRCm39)	T578A	probably benign	Het
Zmat4	T	A	8: 24,392,083 (GRCm39)	M13K	probably damaging	Het

Other mutations in Arhgef15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00929:Arhgef15	APN	11	68,844,928 (GRCm39)	missense	probably damaging	1.00
IGL02382:Arhgef15	APN	11	68,844,856 (GRCm39)	missense	probably damaging	0.98
R0041:Arhgef15	UTSW	11	68,845,342 (GRCm39)	missense	possibly damaging	0.92
R0276:Arhgef15	UTSW	11	68,844,298 (GRCm39)	splice site	probably benign
R0368:Arhgef15	UTSW	11	68,845,519 (GRCm39)	missense	probably damaging	0.99
R0706:Arhgef15	UTSW	11	68,845,402 (GRCm39)	missense	probably damaging	1.00
R1628:Arhgef15	UTSW	11	68,835,640 (GRCm39)	missense	possibly damaging	0.86
R1966:Arhgef15	UTSW	11	68,845,501 (GRCm39)	missense	probably damaging	1.00
R2105:Arhgef15	UTSW	11	68,838,507 (GRCm39)	splice site	probably null
R2278:Arhgef15	UTSW	11	68,842,517 (GRCm39)	missense	probably damaging	1.00
R4667:Arhgef15	UTSW	11	68,845,387 (GRCm39)	missense	probably benign	0.00
R4836:Arhgef15	UTSW	11	68,840,751 (GRCm39)	intron	probably benign
R4898:Arhgef15	UTSW	11	68,842,171 (GRCm39)	missense	probably benign	0.00
R4966:Arhgef15	UTSW	11	68,838,143 (GRCm39)	missense	probably benign	0.08
R5304:Arhgef15	UTSW	11	68,838,063 (GRCm39)	missense	probably null	0.32
R5333:Arhgef15	UTSW	11	68,838,022 (GRCm39)	intron	probably benign
R5546:Arhgef15	UTSW	11	68,844,877 (GRCm39)	missense	probably benign	0.01
R5632:Arhgef15	UTSW	11	68,844,877 (GRCm39)	missense	probably benign	0.01
R5707:Arhgef15	UTSW	11	68,845,541 (GRCm39)	missense	probably damaging	0.98
R5839:Arhgef15	UTSW	11	68,844,982 (GRCm39)	missense	probably benign	0.00
R5926:Arhgef15	UTSW	11	68,842,781 (GRCm39)	missense	possibly damaging	0.76
R6376:Arhgef15	UTSW	11	68,845,796 (GRCm39)	missense	unknown
R6429:Arhgef15	UTSW	11	68,838,622 (GRCm39)	missense	probably damaging	1.00
R6526:Arhgef15	UTSW	11	68,840,820 (GRCm39)	missense	probably damaging	1.00
R6749:Arhgef15	UTSW	11	68,845,383 (GRCm39)	missense	probably damaging	0.99
R7460:Arhgef15	UTSW	11	68,837,861 (GRCm39)	missense	probably damaging	1.00
R7529:Arhgef15	UTSW	11	68,844,848 (GRCm39)	missense	probably damaging	1.00
R7598:Arhgef15	UTSW	11	68,837,236 (GRCm39)	missense	probably damaging	1.00
R7767:Arhgef15	UTSW	11	68,844,673 (GRCm39)	missense	probably damaging	0.99
R7919:Arhgef15	UTSW	11	68,838,431 (GRCm39)	missense	probably benign	0.00
R8488:Arhgef15	UTSW	11	68,838,496 (GRCm39)	critical splice acceptor site	probably null
R8818:Arhgef15	UTSW	11	68,841,938 (GRCm39)	missense	probably damaging	0.99
R9415:Arhgef15	UTSW	11	68,842,233 (GRCm39)	missense	probably damaging	1.00
R9663:Arhgef15	UTSW	11	68,845,255 (GRCm39)	missense	probably damaging	1.00
X0067:Arhgef15	UTSW	11	68,835,656 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TAGAAAGCAGACTCCAGTGCCAGC -3'
(R):5'- TTCCCCAGACACCATCTATGAGGAC -3'

Sequencing Primer
(F):5'- ACTCCAGTGCCAGCTTGTG -3'
(R):5'- CTGTGGTAAGCATCTCTCAAAGG -3'

Posted On

2013-05-09