Mutagenetix > Incidental Mutation

Incidental Mutation 'R7598:Arhgef15'

587848

Institutional Source

Beutler Lab

Gene Symbol

Arhgef15

Ensembl Gene

ENSMUSG00000052921

Gene Name

Rho guanine nucleotide exchange factor 15

Synonyms

D530030K12Rik

MMRRC Submission

045641-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7598 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68833981-68848306 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 68837236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 785 (L785Q)

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: L785Q

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

SMART Domains

Protein: ENSMUSP00000067684
Gene: ENSMUSG00000052921
AA Change: L785Q

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: L785Q

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

SMART Domains

Protein: ENSMUSP00000104311
Gene: ENSMUSG00000052921
AA Change: L785Q

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (53/53)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,480,370 (GRCm39)	S234G	probably benign	Het
Agtr1b	A	T	3: 20,370,077 (GRCm39)	N176K	possibly damaging	Het
AI661453	T	C	17: 47,777,045 (GRCm39)	V257A	unknown	Het
Alpk2	T	A	18: 65,437,637 (GRCm39)	K1252M	probably damaging	Het
Angpt4	A	G	2: 151,767,445 (GRCm39)	T159A	possibly damaging	Het
Ap1g1	A	G	8: 110,576,308 (GRCm39)	N447S	probably benign	Het
Apoc4	A	G	7: 19,415,265 (GRCm39)	V14A	probably benign	Het
Arfgef2	A	C	2: 166,698,444 (GRCm39)	Q638P	probably benign	Het
Arhgap20	C	A	9: 51,761,090 (GRCm39)	F980L	possibly damaging	Het
Arhgap27	G	A	11: 103,224,879 (GRCm39)	R459*	probably null	Het
B3gnt7	T	C	1: 86,233,500 (GRCm39)	F249L	probably benign	Het
Carmil3	A	G	14: 55,732,278 (GRCm39)	E233G	possibly damaging	Het
Ccdc122	C	A	14: 77,349,006 (GRCm39)	Q279K	probably benign	Het
Cilp2	A	G	8: 70,338,682 (GRCm39)	C134R	probably benign	Het
Clec4b1	G	A	6: 123,048,427 (GRCm39)	W187*	probably null	Het
Ddx11	G	A	17: 66,437,541 (GRCm39)		probably null	Het
Dhrs7c	A	T	11: 67,702,279 (GRCm39)		probably null	Het
Eif4g3	T	A	4: 137,921,435 (GRCm39)	H1387Q	probably benign	Het
Gsdmc4	T	C	15: 63,772,235 (GRCm39)	N148S	probably damaging	Het
Hs6st3	T	A	14: 120,106,750 (GRCm39)	V386E	probably damaging	Het
Itih3	C	T	14: 30,639,334 (GRCm39)	R413Q	possibly damaging	Het
Kcnj4	T	C	15: 79,369,965 (GRCm39)	N5S	probably benign	Het
Klhl18	A	T	9: 110,275,878 (GRCm39)	L155*	probably null	Het
Lima1	G	A	15: 99,717,577 (GRCm39)	P143L	probably benign	Het
Lzts2	G	T	19: 45,012,272 (GRCm39)	G234*	probably null	Het
Map4k5	A	T	12: 69,871,412 (GRCm39)	F503L	possibly damaging	Het
Men1	A	T	19: 6,389,735 (GRCm39)	I463L	probably benign	Het
Muc5b	A	G	7: 141,412,999 (GRCm39)	T1982A	unknown	Het
Myo18a	A	T	11: 77,738,172 (GRCm39)	T1705S	probably damaging	Het
Nipbl	T	C	15: 8,372,977 (GRCm39)	S1090G	probably benign	Het
Or2b7	T	C	13: 21,739,358 (GRCm39)	Y278C	probably damaging	Het
Or8k28	C	A	2: 86,286,234 (GRCm39)	C127F	probably damaging	Het
Pcdhb7	T	C	18: 37,475,833 (GRCm39)	F323S	probably damaging	Het
Pde11a	T	A	2: 75,966,767 (GRCm39)	T561S	probably damaging	Het
Phip	A	C	9: 82,787,711 (GRCm39)	S817R	possibly damaging	Het
Phxr2	T	A	10: 98,961,941 (GRCm39)	M40L	unknown	Het
Pip4k2a	T	A	2: 18,877,098 (GRCm39)	L212F	possibly damaging	Het
Proc	T	A	18: 32,268,929 (GRCm39)	I19L	probably benign	Het
Rbm4	T	C	19: 4,842,539 (GRCm39)	E100G	possibly damaging	Het
Rhobtb3	T	C	13: 76,059,021 (GRCm39)	Y259C	probably benign	Het
Rtkn	A	G	6: 83,124,884 (GRCm39)	D168G	probably null	Het
Sdk1	T	G	5: 141,595,753 (GRCm39)	Y136*	probably null	Het
Slk	G	A	19: 47,624,901 (GRCm39)	E1041K	probably damaging	Het
Smok2b	A	T	17: 13,454,973 (GRCm39)	R378*	probably null	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spag16	T	C	1: 69,909,467 (GRCm39)	F188S	probably damaging	Het
Tlnrd1	A	G	7: 83,531,838 (GRCm39)	C198R	probably damaging	Het
Tor1a	A	C	2: 30,857,796 (GRCm39)	I24S	probably benign	Het
Unc13b	C	A	4: 43,263,569 (GRCm39)	T1598K	probably benign	Het
Uncx	G	A	5: 139,529,809 (GRCm39)	V21M	probably benign	Het
Usp5	A	T	6: 124,803,342 (GRCm39)	F53I	possibly damaging	Het
Wbp2nl	A	G	15: 82,192,762 (GRCm39)	M149V	probably benign	Het
Zfp654	T	A	16: 64,606,297 (GRCm39)	E94V	possibly damaging	Het
Zfp689	A	G	7: 127,047,840 (GRCm39)	L64P	probably benign	Het
Zfyve28	A	C	5: 34,393,461 (GRCm39)	N68K	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
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'- TAGAAAGCAGACTCCAGTGC -3'
(R):5'- ACACCATCTATGAGGACTGTGG -3'

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

Posted On

2019-10-24