Mutagenetix > Incidental Mutation

Incidental Mutation 'R7767:Arhgef15'

598320

Institutional Source

Beutler Lab

Gene Symbol

Arhgef15

Ensembl Gene

ENSMUSG00000052921

Gene Name

Rho guanine nucleotide exchange factor 15

Synonyms

D530030K12Rik

MMRRC Submission

045823-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7767 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68833981-68848306 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68844673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 308 (E308G)

Ref Sequence

ENSEMBL: ENSMUSP00000067684 (fasta)

Gene Model

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

AlphaFold

Q5FWH6

Predicted Effect

probably damaging
Transcript: ENSMUST00000065040
AA Change: E308G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067684
Gene: ENSMUSG00000052921
AA Change: E308G

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

probably damaging
Transcript: ENSMUST00000108671
AA Change: E308G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104311
Gene: ENSMUSG00000052921
AA Change: E308G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	C	A	1: 58,274,366 (GRCm39)	S384Y	probably damaging	Het
Asb15	A	G	6: 24,559,281 (GRCm39)	D142G	probably benign	Het
Atg13	A	G	2: 91,509,711 (GRCm39)	S394P	probably damaging	Het
Atp10a	G	C	7: 58,308,597 (GRCm39)	W132S	probably damaging	Het
Bltp1	G	T	3: 36,974,436 (GRCm39)		probably null	Het
Bod1l	T	A	5: 41,974,099 (GRCm39)	N2405I	probably benign	Het
Capsl	C	T	15: 9,462,770 (GRCm39)	R137C	probably damaging	Het
Cd109	T	A	9: 78,617,441 (GRCm39)	M1313K	probably damaging	Het
Chst13	G	A	6: 90,286,566 (GRCm39)	A132V	possibly damaging	Het
Cobl	T	C	11: 12,362,117 (GRCm39)		probably benign	Het
Coq9	A	T	8: 95,577,214 (GRCm39)	E193V	probably benign	Het
Cpd	T	A	11: 76,704,385 (GRCm39)	I410F	probably benign	Het
Cyth3	T	G	5: 143,693,229 (GRCm39)	V351G	probably damaging	Het
Dcdc2c	T	C	12: 28,520,256 (GRCm39)	K607E		Het
Dcp1a	T	C	14: 30,201,775 (GRCm39)		probably null	Het
Dennd3	A	G	15: 73,394,079 (GRCm39)	I35V	probably benign	Het
Dlgap4	C	T	2: 156,587,973 (GRCm39)	R606W	probably damaging	Het
Dnhd1	A	G	7: 105,343,817 (GRCm39)	I1720M	probably benign	Het
Erbin	A	G	13: 103,995,907 (GRCm39)	L265P	probably damaging	Het
Ern1	T	C	11: 106,291,134 (GRCm39)	D847G	probably damaging	Het
Esyt3	T	G	9: 99,207,024 (GRCm39)	S342R	probably benign	Het
Exoc2	A	T	13: 31,060,752 (GRCm39)	I584K	probably benign	Het
Fam240a	T	C	9: 110,744,090 (GRCm39)	R50G	probably damaging	Het
Glis3	A	T	19: 28,241,360 (GRCm39)	M858K	probably benign	Het
Gls2	C	T	10: 128,030,998 (GRCm39)	R86C	unknown	Het
Gm10972	C	A	3: 94,550,901 (GRCm39)	Y25*	probably null	Het
H2-T10	A	T	17: 36,428,622 (GRCm39)	M350K	probably benign	Het
Has1	A	T	17: 18,070,792 (GRCm39)	V43D	probably damaging	Het
Herc2	T	A	7: 55,878,275 (GRCm39)	S4609R	probably benign	Het
Hmgcs2	A	C	3: 98,198,582 (GRCm39)	T162P	probably damaging	Het
Hspg2	G	T	4: 137,239,177 (GRCm39)	C368F	probably damaging	Het
Ighv11-1	A	G	12: 113,945,722 (GRCm39)	S44P	probably damaging	Het
Inppl1	A	G	7: 101,473,545 (GRCm39)	V1035A	probably benign	Het
Kmt2a	C	T	9: 44,730,295 (GRCm39)	V3341I	unknown	Het
Lrp1b	T	C	2: 40,691,517 (GRCm39)	N3434S		Het
Lrriq1	G	C	10: 103,051,815 (GRCm39)	S312R	probably damaging	Het
Map1a	G	A	2: 121,132,517 (GRCm39)	S1111N	probably damaging	Het
Myo15a	T	C	11: 60,392,922 (GRCm39)	V1029A		Het
Nol11	T	C	11: 107,069,908 (GRCm39)	H314R	possibly damaging	Het
Nphs1	A	T	7: 30,162,733 (GRCm39)	D404V	probably damaging	Het
Odr4	A	G	1: 150,247,788 (GRCm39)	V387A	probably benign	Het
Or51r1	A	T	7: 102,220,971 (GRCm39)		probably benign	Het
Pabpc2	T	C	18: 39,907,607 (GRCm39)	Y291H	possibly damaging	Het
Pcdh15	G	A	10: 74,322,088 (GRCm39)	A1020T	probably benign	Het
Pla2g4f	A	C	2: 120,135,490 (GRCm39)	S395A	possibly damaging	Het
Ppp1r18	A	G	17: 36,178,176 (GRCm39)	Q17R	probably damaging	Het
Prokr2	A	T	2: 132,215,996 (GRCm39)	V155D	probably damaging	Het
Pwwp2a	T	G	11: 43,596,696 (GRCm39)	C620W	probably damaging	Het
Rabepk	T	C	2: 34,675,605 (GRCm39)	D175G	probably damaging	Het
Rad54l	T	C	4: 115,956,866 (GRCm39)	Y485C	probably damaging	Het
Rasef	A	G	4: 73,652,771 (GRCm39)	S577P	probably damaging	Het
Rgma	C	A	7: 73,067,752 (GRCm39)	L446I	unknown	Het
Rnf212b	T	C	14: 55,079,825 (GRCm39)	S182P	probably damaging	Het
Rnf6	C	A	5: 146,147,986 (GRCm39)	R344I	probably damaging	Het
Rnf6	T	A	5: 146,147,987 (GRCm39)	R344*	probably null	Het
Sgo1	A	G	17: 53,986,639 (GRCm39)	I184T	possibly damaging	Het
Sgpl1	A	T	10: 60,953,502 (GRCm39)	I78N	possibly damaging	Het
Snx13	T	A	12: 35,157,483 (GRCm39)	Y510N	probably damaging	Het
Sptbn2	G	A	19: 4,784,171 (GRCm39)	E638K	possibly damaging	Het
Sspo	A	G	6: 48,428,316 (GRCm39)	T349A	probably damaging	Het
Sv2c	C	T	13: 96,126,223 (GRCm39)	S343N	probably damaging	Het
Syne1	C	A	10: 5,283,560 (GRCm39)	V1502F	possibly damaging	Het
Syne1	T	A	10: 5,283,632 (GRCm39)	I1478F	possibly damaging	Het
Tmem121	C	T	12: 113,151,992 (GRCm39)	A70V	probably damaging	Het
Tmem215	A	G	4: 40,474,042 (GRCm39)	I40V	possibly damaging	Het
Trim25	A	G	11: 88,899,943 (GRCm39)		probably null	Het
Trio	A	G	15: 27,889,504 (GRCm39)	V534A	unknown	Het
Tyr	T	A	7: 87,142,218 (GRCm39)	E114V	probably benign	Het
Ush2a	A	T	1: 188,285,457 (GRCm39)	T1998S	probably benign	Het
Usp40	G	T	1: 87,909,900 (GRCm39)	A518E	probably benign	Het
Usp48	T	A	4: 137,331,956 (GRCm39)		probably null	Het
Vash1	T	A	12: 86,733,767 (GRCm39)	F152L	probably damaging	Het
Vsig10l	C	A	7: 43,113,141 (GRCm39)	P31Q	probably damaging	Het
Xab2	C	T	8: 3,669,018 (GRCm39)	E43K	probably benign	Het
Zfp423	G	A	8: 88,507,512 (GRCm39)	S944F	probably damaging	Het
Zp2	A	T	7: 119,736,392 (GRCm39)	D350E	probably benign	Het
Zscan4e	T	G	7: 11,041,461 (GRCm39)	Q165P	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
R0208:Arhgef15	UTSW	11	68,837,199 (GRCm39)	missense	probably benign	0.09
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
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'- CTGGCACTGAGAATACCACTCC -3'
(R):5'- GCATCAATCCTCCAGTCATCAG -3'

Sequencing Primer
(F):5'- CGATAGGGGTGTAGCTGACCAC -3'
(R):5'- AGTCATCAGTCACCCTCCAGTTG -3'

Posted On

2019-11-26