Mutagenetix > Incidental Mutation

Incidental Mutation 'R1481:Rab27a'

164380

Institutional Source

Beutler Lab

Gene Symbol

Rab27a

Ensembl Gene

ENSMUSG00000032202

Gene Name

RAB27A, member RAS oncogene family

Synonyms

2410003M20Rik, 4933437C11Rik, 2210402C08Rik

MMRRC Submission

039534-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.502) question?

Stock #

R1481 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72952136-73004911 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72989684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 52 (V52M)

Ref Sequence

ENSEMBL: ENSMUSP00000139310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034722] [ENSMUST00000184146]

AlphaFold

Q9ERI2

Predicted Effect

probably benign
Transcript: ENSMUST00000034722
AA Change: V52M

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000034722
Gene: ENSMUSG00000032202
AA Change: V52M

Domain	Start	End	E-Value	Type
RAB	10	184	9.9e-92	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184146
AA Change: V52M

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139310
Gene: ENSMUSG00000032202
AA Change: V52M

Domain	Start	End	E-Value	Type
RAB	10	184	9.9e-92	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184575

Meta Mutation Damage Score

0.0848

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the Rab family of proteins, which is the largest family within the Ras superfamily of GTPases. This gene product is thought to regulate vesicular transport, together with its specific effectors. Mutations in this gene cause several defects, including actin-based melanosome transport defects and immunodeficiency. Mutations in the human ortholog of this gene are associated with Griscelli syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygotes have abnormal melanocyte development producing abnormal pigmentation and a gray coat color. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef5	A	G	6: 43,251,568 (GRCm39)	H773R	probably damaging	Het
Bltp1	T	C	3: 37,062,583 (GRCm39)	V3365A	probably damaging	Het
Bmp3	G	A	5: 99,020,329 (GRCm39)	V251M	probably damaging	Het
Ccdc175	C	A	12: 72,148,722 (GRCm39)		probably benign	Het
Ccdc178	C	T	18: 22,238,678 (GRCm39)	G313D	probably benign	Het
Cd300ld2	T	A	11: 114,903,459 (GRCm39)	I129F	probably benign	Het
Cep170	T	C	1: 176,609,951 (GRCm39)	Q120R	possibly damaging	Het
Ckb	T	C	12: 111,637,696 (GRCm39)	H145R	probably benign	Het
Cntnap5a	T	A	1: 116,045,393 (GRCm39)	N336K	probably damaging	Het
Coil	T	A	11: 88,864,886 (GRCm39)	C38S	possibly damaging	Het
Cps1	T	C	1: 67,183,041 (GRCm39)	V133A	probably damaging	Het
Cspg4	A	G	9: 56,795,094 (GRCm39)	E943G	probably damaging	Het
Cyp2c54	C	T	19: 40,036,032 (GRCm39)	D293N	probably benign	Het
Cyp2f2	T	C	7: 26,821,302 (GRCm39)	S72P	probably benign	Het
Dip2c	G	A	13: 9,601,902 (GRCm39)		probably null	Het
Dock6	T	C	9: 21,731,918 (GRCm39)	T1158A	probably benign	Het
Dscaml1	G	A	9: 45,583,941 (GRCm39)	V469I	probably benign	Het
Efcab14	A	G	4: 115,613,714 (GRCm39)	T221A	probably benign	Het
Ehbp1	T	C	11: 21,956,782 (GRCm39)	*1207W	probably null	Het
Eln	T	C	5: 134,735,426 (GRCm39)	K786E	probably damaging	Het
Fyb1	C	T	15: 6,649,128 (GRCm39)	P385S	probably benign	Het
Galr1	A	G	18: 82,423,866 (GRCm39)	I137T	possibly damaging	Het
Gcm1	A	T	9: 77,966,999 (GRCm39)	K73*	probably null	Het
Gemin5	T	C	11: 58,032,480 (GRCm39)	N775D	probably damaging	Het
Gli3	C	T	13: 15,788,435 (GRCm39)	H147Y	probably damaging	Het
Gm10754	G	T	10: 97,518,089 (GRCm39)		probably benign	Het
Gpr37	T	C	6: 25,669,137 (GRCm39)	D569G	probably damaging	Het
Grina	T	A	15: 76,133,289 (GRCm39)	Y286N	probably damaging	Het
Gtf3c1	C	A	7: 125,292,310 (GRCm39)		probably null	Het
Kcnc4	C	T	3: 107,355,534 (GRCm39)	V305M	probably benign	Het
Kntc1	T	C	5: 123,916,338 (GRCm39)	F724L	probably benign	Het
Kpnb1	T	C	11: 97,069,136 (GRCm39)	Y249C	probably damaging	Het
Krt6b	T	C	15: 101,586,809 (GRCm39)	T269A	probably benign	Het
Lamc1	T	C	1: 153,097,380 (GRCm39)	K1555E	probably damaging	Het
Maneal	T	C	4: 124,755,650 (GRCm39)	Y104C	probably damaging	Het
Map1b	T	C	13: 99,567,679 (GRCm39)	T1681A	unknown	Het
Mettl17	T	C	14: 52,128,160 (GRCm39)	L272P	probably benign	Het
Mib2	T	A	4: 155,741,456 (GRCm39)	S357C	probably benign	Het
Mmp19	C	A	10: 128,634,047 (GRCm39)	T316K	possibly damaging	Het
Mroh9	C	T	1: 162,854,078 (GRCm39)	G774E	probably damaging	Het
Myh1	T	C	11: 67,096,325 (GRCm39)		probably benign	Het
Ncor2	C	A	5: 125,104,202 (GRCm39)	E963*	probably null	Het
Nol6	T	A	4: 41,123,596 (GRCm39)	T51S	probably benign	Het
Nsun3	A	T	16: 62,555,732 (GRCm39)	C265S	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Nutm2	T	A	13: 50,623,517 (GRCm39)	N71K	probably damaging	Het
Or10a5	T	G	7: 106,635,356 (GRCm39)	L5R	probably benign	Het
Or5p73	C	T	7: 108,065,167 (GRCm39)	T212I	probably benign	Het
Orc3	T	A	4: 34,607,228 (GRCm39)	E34V	possibly damaging	Het
Pcdhb13	T	A	18: 37,575,889 (GRCm39)	L89Q	probably damaging	Het
Polr3a	A	T	14: 24,502,616 (GRCm39)	V1241E	probably null	Het
Prpf39	C	T	12: 65,100,088 (GRCm39)	P135S	probably damaging	Het
Psrc1	T	C	3: 108,292,309 (GRCm39)	V34A	probably benign	Het
Rassf9	A	G	10: 102,381,895 (GRCm39)	T424A	probably benign	Het
Ripor3	G	T	2: 167,842,297 (GRCm39)	R61S	possibly damaging	Het
Ryr3	C	T	2: 112,466,867 (GRCm39)		probably benign	Het
Samd4b	C	T	7: 28,113,435 (GRCm39)	G177R	probably damaging	Het
Setbp1	C	T	18: 78,826,516 (GRCm39)	V1366M	probably benign	Het
Smad1	G	A	8: 80,070,359 (GRCm39)	A393V	probably benign	Het
Tctn2	T	C	5: 124,745,826 (GRCm39)		noncoding transcript	Het
Tmem45a	A	T	16: 56,631,965 (GRCm39)	F218I	possibly damaging	Het
Tpte	A	T	8: 22,845,487 (GRCm39)	R512S	probably damaging	Het
Trim37	T	A	11: 87,020,585 (GRCm39)	L22*	probably null	Het
Ttc6	A	G	12: 57,783,916 (GRCm39)	N1792D	probably damaging	Het
Ttn	A	G	2: 76,775,960 (GRCm39)	M1694T	probably damaging	Het
Vmn1r181	T	A	7: 23,684,137 (GRCm39)	W201R	probably damaging	Het
Wdr74	C	T	19: 8,715,592 (GRCm39)	L198F	possibly damaging	Het
Zfp560	T	C	9: 20,260,086 (GRCm39)	T259A	probably benign	Het

Other mutations in Rab27a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01144:Rab27a	APN	9	72,982,850 (GRCm39)	critical splice donor site	probably null
IGL02000:Rab27a	APN	9	72,992,254 (GRCm39)	missense	probably damaging	1.00
concrete	UTSW	9	72,989,690 (GRCm39)	missense	possibly damaging	0.89
geodude	UTSW	9	72,992,263 (GRCm39)	missense	probably damaging	1.00
ivan	UTSW	9	72,982,826 (GRCm39)	missense	probably damaging	0.99
R0644:Rab27a	UTSW	9	73,002,705 (GRCm39)	missense	probably benign	0.01
R0671:Rab27a	UTSW	9	72,982,715 (GRCm39)	missense	probably damaging	1.00
R1522:Rab27a	UTSW	9	72,982,764 (GRCm39)	missense	probably damaging	1.00
R1531:Rab27a	UTSW	9	73,002,685 (GRCm39)	missense	probably benign
R1634:Rab27a	UTSW	9	72,982,851 (GRCm39)	critical splice donor site	probably null
R1950:Rab27a	UTSW	9	72,982,751 (GRCm39)	missense	probably damaging	1.00
R2497:Rab27a	UTSW	9	72,992,263 (GRCm39)	missense	probably damaging	1.00
R4083:Rab27a	UTSW	9	72,989,721 (GRCm39)	missense	probably damaging	0.96
R4094:Rab27a	UTSW	9	72,982,826 (GRCm39)	missense	probably damaging	0.99
R5027:Rab27a	UTSW	9	73,002,695 (GRCm39)	missense	probably benign	0.01
R5881:Rab27a	UTSW	9	72,992,321 (GRCm39)	splice site	probably null
R6750:Rab27a	UTSW	9	72,992,290 (GRCm39)	missense	probably damaging	1.00
R9281:Rab27a	UTSW	9	72,992,278 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAGGTGCCATTGCTCAAGTGTG -3'
(R):5'- CCTGTTACCATCAACTCAGGCTGC -3'

Sequencing Primer
(F):5'- CAAGTGTGGTTATTGCACCAAAG -3'
(R):5'- TCATCTTACCAGGTGCAGATGAG -3'

Posted On

2014-03-28