Mutagenetix > Incidental Mutation

Incidental Mutation 'R5040:Arhgap15'

393151

Institutional Source

Beutler Lab

Gene Symbol

Arhgap15

Ensembl Gene

ENSMUSG00000049744

Gene Name

Rho GTPase activating protein 15

Synonyms

5830480G12Rik

MMRRC Submission

042630-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.465) question?

Stock #

R5040 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43638836-44285965 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 43734825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055776] [ENSMUST00000112822] [ENSMUST00000112824]

AlphaFold

Q811M1

Predicted Effect

probably null
Transcript: ENSMUST00000055776

SMART Domains

Protein: ENSMUSP00000056461
Gene: ENSMUSG00000049744

Domain	Start	End	E-Value	Type
PH	88	199	1.24e-9	SMART
RhoGAP	298	473	1.55e-63	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112822

SMART Domains

Protein: ENSMUSP00000108441
Gene: ENSMUSG00000049744

Domain	Start	End	E-Value	Type
Blast:PH	88	108	5e-6	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000112824

SMART Domains

Protein: ENSMUSP00000108443
Gene: ENSMUSG00000049744

Domain	Start	End	E-Value	Type
PH	88	199	1.24e-9	SMART
RhoGAP	298	469	1.16e-35	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140528

Meta Mutation Damage Score

0.9484

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a RAC GTPase-activating protein that is regulated through its PH domain and by recruitment to the membrane. The protein accelerates hydrolysis of guanosine triphosphate to guanosine diphosphate to repress Rac activity. Knock-out of Arhgap15 function demonstrates that this gene is required to regulate multiple functions in macrophages and neutrophils. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for disruption of this gene display reduced leukocyte numbers and abnormally shaped macrophage. Chemotactic responses of macrophage are normal while neutrophile chemoattraction and bacterial pagocytosis are increased. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,669,578 (GRCm39)	Q159R	probably benign	Het
Ap2a1	T	C	7: 44,555,228 (GRCm39)	I446V	possibly damaging	Het
Areg	A	T	5: 91,292,198 (GRCm39)	H166L	possibly damaging	Het
Arhgef17	T	C	7: 100,526,032 (GRCm39)	D874G	probably benign	Het
Cast	T	C	13: 74,872,932 (GRCm39)	T452A	probably damaging	Het
Ccdc154	A	T	17: 25,383,566 (GRCm39)	T208S	probably benign	Het
Chst11	T	A	10: 83,026,780 (GRCm39)	L69Q	probably benign	Het
Clec2d	G	A	6: 129,161,793 (GRCm39)	R142K	probably damaging	Het
Dis3l2	A	T	1: 86,785,059 (GRCm39)	I303F	probably damaging	Het
Dync2h1	A	G	9: 6,992,625 (GRCm39)	Y3979H	probably benign	Het
Ehmt1	A	T	2: 24,774,316 (GRCm39)	C162S	probably benign	Het
Eif4g3	G	T	4: 137,824,200 (GRCm39)	M239I	probably damaging	Het
Eif5	A	G	12: 111,506,284 (GRCm39)	D41G	probably damaging	Het
Elapor1	T	A	3: 108,382,317 (GRCm39)	D284V	probably damaging	Het
Fat1	C	T	8: 45,476,417 (GRCm39)	A1821V	probably damaging	Het
Fry	G	A	5: 150,312,319 (GRCm39)	A745T	probably damaging	Het
Galnt9	T	C	5: 110,765,771 (GRCm39)	L491P	probably damaging	Het
Gata3	A	G	2: 9,863,326 (GRCm39)	L396P	probably damaging	Het
Gyg1	A	G	3: 20,176,823 (GRCm39)		probably benign	Het
Hhip	C	A	8: 80,724,235 (GRCm39)	V336L	probably benign	Het
Hipk2	G	A	6: 38,707,816 (GRCm39)	P660S	possibly damaging	Het
Hnrnpul1	G	A	7: 25,442,414 (GRCm39)	T276I	possibly damaging	Het
Ifnl2	G	T	7: 28,208,511 (GRCm39)	R147S	possibly damaging	Het
Ilvbl	A	G	10: 78,419,152 (GRCm39)	D467G	probably damaging	Het
Kcnh1	A	T	1: 192,187,783 (GRCm39)	H748L	probably benign	Het
Lyg1	A	C	1: 37,989,892 (GRCm39)		probably benign	Het
Mak	A	G	13: 41,183,574 (GRCm39)	Y544H	possibly damaging	Het
Med1	A	G	11: 98,046,230 (GRCm39)		probably benign	Het
Mogat2	T	C	7: 98,887,724 (GRCm39)	T17A	possibly damaging	Het
Myom3	T	C	4: 135,516,970 (GRCm39)	S847P	probably damaging	Het
Nprl2	T	G	9: 107,419,599 (GRCm39)	C9G	probably null	Het
Or5b125-ps1	T	A	19: 13,056,307 (GRCm39)		noncoding transcript	Het
Pcmtd1	T	C	1: 7,190,599 (GRCm39)	Y23H	probably damaging	Het
Pkd1	C	A	17: 24,790,234 (GRCm39)	H972Q	probably benign	Het
Rbm26	A	G	14: 105,358,452 (GRCm39)	I929T	probably benign	Het
Scrn2	A	G	11: 96,921,709 (GRCm39)	T60A	probably damaging	Het
Setdb2	A	T	14: 59,653,156 (GRCm39)	I398N	probably damaging	Het
Setx	A	G	2: 29,029,350 (GRCm39)	E206G	probably damaging	Het
Sez6	T	C	11: 77,859,915 (GRCm39)		probably null	Het
Sh3bp4	C	T	1: 89,071,962 (GRCm39)	S270L	probably damaging	Het
Stac3	T	C	10: 127,343,993 (GRCm39)	I297T	probably damaging	Het
Styxl2	G	A	1: 165,927,914 (GRCm39)	T566I	probably benign	Het
Supv3l1	A	T	10: 62,282,844 (GRCm39)	V139E	possibly damaging	Het
Syce1	A	T	7: 140,358,978 (GRCm39)	H178Q	probably damaging	Het
Tamalin	G	A	15: 101,126,923 (GRCm39)	V134I	probably damaging	Het
Tcp10c	T	A	17: 13,588,453 (GRCm39)	M344K	possibly damaging	Het
Tcstv7a	C	T	13: 120,290,025 (GRCm39)	W57*	probably null	Het
Tmc1	A	G	19: 20,801,394 (GRCm39)	V502A	possibly damaging	Het
Tmco4	G	T	4: 138,747,477 (GRCm39)	G242V	probably damaging	Het
Trp53bp2	G	A	1: 182,272,271 (GRCm39)	R460H	probably damaging	Het
Virma	T	A	4: 11,528,746 (GRCm39)	C1328S	probably benign	Het
Zfp366	A	G	13: 99,364,875 (GRCm39)	D12G	probably damaging	Het
Zfp457	C	T	13: 67,440,899 (GRCm39)	A463T	probably benign	Het

Other mutations in Arhgap15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01533:Arhgap15	APN	2	44,133,165 (GRCm39)	missense	probably damaging	1.00
IGL01779:Arhgap15	APN	2	43,955,057 (GRCm39)	missense	possibly damaging	0.94
IGL02011:Arhgap15	APN	2	43,670,767 (GRCm39)	missense	probably damaging	1.00
IGL02506:Arhgap15	APN	2	43,953,820 (GRCm39)	missense	possibly damaging	0.73
IGL02659:Arhgap15	APN	2	43,953,849 (GRCm39)	missense	probably damaging	1.00
IGL02711:Arhgap15	APN	2	44,006,674 (GRCm39)	missense	possibly damaging	0.67
IGL02944:Arhgap15	APN	2	44,032,362 (GRCm39)	critical splice donor site	probably null
IGL02989:Arhgap15	APN	2	43,670,748 (GRCm39)	missense	probably damaging	1.00
PIT4468001:Arhgap15	UTSW	2	44,133,143 (GRCm39)	missense	probably damaging	1.00
R0140:Arhgap15	UTSW	2	44,212,779 (GRCm39)	missense	probably damaging	1.00
R0403:Arhgap15	UTSW	2	43,953,778 (GRCm39)	missense	probably damaging	0.98
R0557:Arhgap15	UTSW	2	44,006,629 (GRCm39)	missense	possibly damaging	0.60
R0616:Arhgap15	UTSW	2	44,006,729 (GRCm39)	critical splice donor site	probably null
R1122:Arhgap15	UTSW	2	44,032,307 (GRCm39)	missense	probably benign	0.43
R1958:Arhgap15	UTSW	2	44,133,136 (GRCm39)	missense	possibly damaging	0.67
R2258:Arhgap15	UTSW	2	44,276,359 (GRCm39)	missense	probably damaging	1.00
R2905:Arhgap15	UTSW	2	43,953,798 (GRCm39)	missense	probably damaging	0.97
R4788:Arhgap15	UTSW	2	43,638,902 (GRCm39)	start codon destroyed	probably null	0.02
R4793:Arhgap15	UTSW	2	44,032,353 (GRCm39)	missense	probably damaging	1.00
R5093:Arhgap15	UTSW	2	44,212,767 (GRCm39)	missense	probably damaging	1.00
R5114:Arhgap15	UTSW	2	43,670,630 (GRCm39)	missense	probably benign	0.03
R5202:Arhgap15	UTSW	2	43,953,869 (GRCm39)	missense	probably benign	0.22
R5446:Arhgap15	UTSW	2	43,718,772 (GRCm39)	missense	probably benign	0.00
R5661:Arhgap15	UTSW	2	44,212,739 (GRCm39)	missense	possibly damaging	0.54
R6747:Arhgap15	UTSW	2	44,006,689 (GRCm39)	missense	probably damaging	1.00
R7392:Arhgap15	UTSW	2	43,953,786 (GRCm39)	missense	possibly damaging	0.61
R7502:Arhgap15	UTSW	2	43,670,630 (GRCm39)	missense	probably benign	0.03
R7630:Arhgap15	UTSW	2	43,670,648 (GRCm39)	missense	probably benign	0.01
R7658:Arhgap15	UTSW	2	44,032,280 (GRCm39)	missense	probably benign	0.18
R7735:Arhgap15	UTSW	2	44,006,642 (GRCm39)	missense	probably damaging	1.00
R8734:Arhgap15	UTSW	2	44,133,130 (GRCm39)	missense	probably damaging	1.00
R8743:Arhgap15	UTSW	2	43,638,876 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGCTCTGTGACTGGAAGC -3'
(R):5'- GACATCAGCCACTTTTACATTCTGG -3'

Sequencing Primer
(F):5'- GAAGCTTCCATCATTGCAATGGC -3'
(R):5'- CATTCTGGGCAACGCTATAGAATGC -3'

Posted On

2016-06-15