Mutagenetix > Incidental Mutation

Incidental Mutation 'R1634:Rab27a'

172990

Institutional Source

Beutler Lab

Gene Symbol

Rab27a

Ensembl Gene

ENSMUSG00000032202

Gene Name

RAB27A, member RAS oncogene family

Synonyms

2410003M20Rik, 4933437C11Rik, 2210402C08Rik

MMRRC Submission

039671-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.474) question?

Stock #

R1634 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72952136-73004911 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 72982851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139310 (fasta)

Gene Model

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

AlphaFold

Q9ERI2

Predicted Effect

probably null
Transcript: ENSMUST00000034722

SMART Domains

Protein: ENSMUSP00000034722
Gene: ENSMUSG00000032202

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

Predicted Effect

probably null
Transcript: ENSMUST00000184146

SMART Domains

Protein: ENSMUSP00000139310
Gene: ENSMUSG00000032202

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184575

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.4%

Validation Efficiency

97% (67/69)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	T	14: 66,295,180 (GRCm39)	F222I	probably damaging	Het
Adam34	A	T	8: 44,105,127 (GRCm39)	C173S	possibly damaging	Het
Ahi1	T	C	10: 20,841,592 (GRCm39)	V293A	probably damaging	Het
AI182371	A	T	2: 34,976,497 (GRCm39)	Y223N	probably damaging	Het
Asmt	C	A	X: 169,109,564 (GRCm39)	F181L	probably damaging	Het
Axin1	T	A	17: 26,406,965 (GRCm39)	H519Q	probably damaging	Het
Cdc5l	A	T	17: 45,715,632 (GRCm39)	V660E	probably damaging	Het
Cep152	C	T	2: 125,425,809 (GRCm39)	R852H	probably benign	Het
Cpne4	T	C	9: 104,866,778 (GRCm39)	V230A	possibly damaging	Het
Cttnbp2	A	T	6: 18,408,656 (GRCm39)	N988K	probably benign	Het
D430041D05Rik	A	G	2: 104,051,556 (GRCm39)	I767T	probably damaging	Het
Dgki	A	G	6: 36,892,425 (GRCm39)	M851T	probably benign	Het
Dnah8	T	C	17: 30,932,072 (GRCm39)		probably null	Het
Dscaml1	A	G	9: 45,584,047 (GRCm39)	E504G	probably damaging	Het
Dzank1	G	A	2: 144,323,589 (GRCm39)	A618V	probably benign	Het
Entrep3	A	C	3: 89,095,401 (GRCm39)	Y511S	probably damaging	Het
Fat2	T	A	11: 55,158,510 (GRCm39)	S3403C	probably damaging	Het
Fat2	C	T	11: 55,175,545 (GRCm39)	V1723I	probably benign	Het
Flt1	A	T	5: 147,613,240 (GRCm39)	F334I	probably damaging	Het
Galnt12	G	T	4: 47,108,585 (GRCm39)		probably null	Het
Gzmc	T	C	14: 56,469,737 (GRCm39)	I188V	possibly damaging	Het
Herc1	T	C	9: 66,380,820 (GRCm39)	S3566P	possibly damaging	Het
Hoxb4	C	A	11: 96,211,099 (GRCm39)		probably benign	Het
Idh3b	C	T	2: 130,123,665 (GRCm39)	V141I	probably benign	Het
Kif24	A	G	4: 41,393,529 (GRCm39)	S1249P	probably benign	Het
Leo1	T	C	9: 75,373,542 (GRCm39)	Y656H	possibly damaging	Het
Map3k20	G	A	2: 72,240,521 (GRCm39)	W339*	probably null	Het
Map3k5	T	C	10: 20,012,657 (GRCm39)	V1259A	possibly damaging	Het
Masp2	A	G	4: 148,698,812 (GRCm39)	D631G	probably damaging	Het
Mink1	T	C	11: 70,499,706 (GRCm39)	S713P	probably benign	Het
Mpp7	A	T	18: 7,350,984 (GRCm39)	V571E	possibly damaging	Het
Nell1	A	G	7: 50,498,306 (GRCm39)	D574G	possibly damaging	Het
Obscn	T	C	11: 58,967,722 (GRCm39)	Y392C	probably damaging	Het
Odad2	A	G	18: 7,286,688 (GRCm39)	L181P	probably damaging	Het
Olfml2a	A	T	2: 38,850,231 (GRCm39)	Y649F	probably benign	Het
Or1f19	A	G	16: 3,411,073 (GRCm39)	D271G	probably benign	Het
Or4k45	T	C	2: 111,395,691 (GRCm39)	M33V	probably benign	Het
Prkcg	A	G	7: 3,371,986 (GRCm39)	D484G	probably damaging	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rgl1	C	T	1: 152,400,523 (GRCm39)	R624H	probably damaging	Het
Ric8b	G	A	10: 84,806,612 (GRCm39)	G159D	probably damaging	Het
Sbno2	C	A	10: 79,896,468 (GRCm39)	A880S	possibly damaging	Het
Scn9a	A	G	2: 66,318,361 (GRCm39)	S1477P	probably damaging	Het
Sec22a	T	C	16: 35,139,243 (GRCm39)		probably benign	Het
Snx14	T	C	9: 88,267,792 (GRCm39)	I714M	probably benign	Het
Snx14	T	C	9: 88,289,543 (GRCm39)		probably benign	Het
Sphk2	T	A	7: 45,360,964 (GRCm39)	T347S	probably benign	Het
Spns1	C	T	7: 125,970,343 (GRCm39)		probably benign	Het
Susd2	A	G	10: 75,473,389 (GRCm39)	V675A	probably benign	Het
Sytl2	A	T	7: 90,044,390 (GRCm39)	D566V	probably damaging	Het
Tcf25	T	A	8: 124,123,830 (GRCm39)	I464N	possibly damaging	Het
Tex261	A	T	6: 83,752,004 (GRCm39)	I49N	possibly damaging	Het
Tjp1	A	G	7: 64,952,700 (GRCm39)	F1545L	possibly damaging	Het
Tmem176b	A	G	6: 48,811,500 (GRCm39)	S216P	probably damaging	Het
Topaz1	C	T	9: 122,609,740 (GRCm39)		probably benign	Het
Tra2a	C	T	6: 49,227,891 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,553,126 (GRCm39)	F22794S	possibly damaging	Het
Uox	G	A	3: 146,318,138 (GRCm39)	W93*	probably null	Het
Zan	A	T	5: 137,411,052 (GRCm39)		probably benign	Het
Zfp106	G	A	2: 120,364,158 (GRCm39)	R750*	probably null	Het
Zfp638	A	T	6: 83,956,894 (GRCm39)		probably null	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
R1481:Rab27a	UTSW	9	72,989,684 (GRCm39)	missense	probably benign	0.13
R1522:Rab27a	UTSW	9	72,982,764 (GRCm39)	missense	probably damaging	1.00
R1531:Rab27a	UTSW	9	73,002,685 (GRCm39)	missense	probably benign
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'- CCGTTTCTTCGTGTCTTACAGGTGA -3'
(R):5'- TCCCGAGCACAGAACCCTTGTT -3'

Sequencing Primer
(F):5'- TCTTACAGGTGAGGCACAGAG -3'
(R):5'- gtttgtttgcttgcttgcttg -3'

Posted On

2014-04-24