Mutagenetix > Incidental Mutation

Incidental Mutation 'R6750:Rab27a'

530712

Institutional Source

Beutler Lab

Gene Symbol

Rab27a

Ensembl Gene

ENSMUSG00000032202

Gene Name

RAB27A, member RAS oncogene family

Synonyms

2410003M20Rik, 4933437C11Rik, 2210402C08Rik

MMRRC Submission

044867-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.502) question?

Stock #

R6750 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72952136-73004911 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72992290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 106 (S106N)

Ref Sequence

ENSEMBL: ENSMUSP00000139310 (fasta)

Gene Model

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

AlphaFold

Q9ERI2

Predicted Effect

probably damaging
Transcript: ENSMUST00000034722
AA Change: S106N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034722
Gene: ENSMUSG00000032202
AA Change: S106N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000184146
AA Change: S106N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139310
Gene: ENSMUSG00000032202
AA Change: S106N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184575

Meta Mutation Damage Score

0.9499

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	A	T	2: 120,973,130 (GRCm39)	L62F	probably damaging	Het
Akap13	C	T	7: 75,389,206 (GRCm39)	P2375S	probably benign	Het
Apob	T	A	12: 8,047,853 (GRCm39)	L931Q	probably damaging	Het
Arcn1	A	G	9: 44,661,691 (GRCm39)	V391A	possibly damaging	Het
Ccdc162	A	T	10: 41,437,222 (GRCm39)	I1729N	possibly damaging	Het
Cd24a	T	C	10: 43,458,721 (GRCm39)	L86P	unknown	Het
Cdcp3	T	A	7: 130,889,974 (GRCm39)		probably benign	Het
Churc1	C	A	12: 76,822,405 (GRCm39)	H71Q	probably damaging	Het
Clcn3	A	G	8: 61,367,809 (GRCm39)	L780P	possibly damaging	Het
Cldn17	C	T	16: 88,303,195 (GRCm39)	G178E	possibly damaging	Het
Cmah	A	G	13: 24,648,235 (GRCm39)	Y345C	probably damaging	Het
Cntnap5b	C	T	1: 100,202,224 (GRCm39)	S357L	probably damaging	Het
Col6a6	A	G	9: 105,660,879 (GRCm39)	I410T	probably damaging	Het
Crmp1	T	C	5: 37,422,666 (GRCm39)		probably null	Het
Csmd2	A	C	4: 128,091,018 (GRCm39)	N186H	possibly damaging	Het
Cyp1a1	A	T	9: 57,607,539 (GRCm39)	M56L	probably benign	Het
D2hgdh	G	C	1: 93,754,129 (GRCm39)	R56P	probably benign	Het
Dapk2	A	G	9: 66,128,034 (GRCm39)	E104G	probably damaging	Het
Dld	T	C	12: 31,382,213 (GRCm39)	N498S	probably benign	Het
Dyrk4	G	T	6: 126,875,918 (GRCm39)	Q106K	probably benign	Het
Eif2b4	T	C	5: 31,347,304 (GRCm39)	I333V	probably damaging	Het
F5	A	G	1: 164,021,076 (GRCm39)	T1184A	possibly damaging	Het
Fbxl6	C	T	15: 76,422,612 (GRCm39)	G102D	probably damaging	Het
Foxa1	C	T	12: 57,589,396 (GRCm39)	G275R	probably benign	Het
Fryl	A	G	5: 73,179,575 (GRCm39)	I2944T	probably damaging	Het
Gna15	T	C	10: 81,350,117 (GRCm39)	D95G	probably benign	Het
Greb1	T	A	12: 16,738,584 (GRCm39)	M1460L	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,747,195 (GRCm39)	I444T	probably damaging	Het
Ifngr1	T	A	10: 19,485,099 (GRCm39)	M366K	probably benign	Het
Krt27	C	T	11: 99,239,806 (GRCm39)	E253K	probably damaging	Het
Mical2	C	T	7: 111,981,046 (GRCm39)	T406I	probably damaging	Het
Mocs2	T	G	13: 114,962,784 (GRCm39)	D156E	probably damaging	Het
Mprip	A	T	11: 59,586,957 (GRCm39)	K43N	probably damaging	Het
Myo5b	A	T	18: 74,750,106 (GRCm39)	T190S	possibly damaging	Het
Naa25	C	T	5: 121,546,372 (GRCm39)	T86M	probably damaging	Het
Ncam1	T	C	9: 49,478,639 (GRCm39)	D163G	probably damaging	Het
Nlrp4f	A	T	13: 65,329,468 (GRCm39)	Y908*	probably null	Het
Nlrp9b	T	A	7: 19,757,159 (GRCm39)	L132*	probably null	Het
Nrg1	A	C	8: 32,308,124 (GRCm39)	S679A	probably damaging	Het
Or1j1	C	A	2: 36,702,954 (GRCm39)	R50M	possibly damaging	Het
Or52p1	C	T	7: 104,267,320 (GRCm39)	R145C	probably damaging	Het
Paqr9	A	T	9: 95,443,050 (GRCm39)	T347S	probably damaging	Het
Pcdhb21	T	C	18: 37,647,501 (GRCm39)	L210P	probably damaging	Het
Pdzd7	T	G	19: 45,016,187 (GRCm39)	D978A	probably benign	Het
Phf8-ps	A	T	17: 33,285,372 (GRCm39)	S477T	possibly damaging	Het
Pkd1l1	A	T	11: 8,923,217 (GRCm39)	S17T	unknown	Het
Plcz1	T	C	6: 139,974,164 (GRCm39)	K93E	possibly damaging	Het
Pom121l2	G	C	13: 22,166,107 (GRCm39)	R126P	probably damaging	Het
Prkg1	C	T	19: 31,741,961 (GRCm39)	E88K	probably benign	Het
Psme4	A	T	11: 30,803,203 (GRCm39)	D15V	probably damaging	Het
Ptprf	A	G	4: 118,088,928 (GRCm39)	V625A	probably benign	Het
Rasa4	A	G	5: 136,129,802 (GRCm39)	T261A	probably benign	Het
Sardh	T	C	2: 27,118,269 (GRCm39)	D487G	probably benign	Het
Sec16a	A	G	2: 26,330,030 (GRCm39)	Y662H	probably benign	Het
Sema3d	T	A	5: 12,635,067 (GRCm39)	L711*	probably null	Het
Septin14	T	A	5: 129,773,181 (GRCm39)	Y152F	probably damaging	Het
Smc5	A	G	19: 23,220,004 (GRCm39)	L411P	probably damaging	Het
Spata31e5	C	A	1: 28,816,495 (GRCm39)	E512D	probably damaging	Het
Spg7	T	A	8: 123,800,650 (GRCm39)	V39E	probably damaging	Het
Tas2r117	A	G	6: 132,779,817 (GRCm39)		probably benign	Het
Tle1	A	T	4: 72,040,687 (GRCm39)	I631N	probably damaging	Het
Tmed3	T	A	9: 89,581,843 (GRCm39)	S207C	probably damaging	Het
Tmem59l	G	A	8: 70,939,022 (GRCm39)	P51S	probably benign	Het
Trpc3	A	G	3: 36,678,542 (GRCm39)	Y848H	probably damaging	Het
Tsen2	T	C	6: 115,526,881 (GRCm39)	F66S	probably damaging	Het
Ttll5	T	A	12: 86,003,384 (GRCm39)	S216R	probably damaging	Het
Usp22	A	T	11: 61,048,042 (GRCm39)	V426E	probably damaging	Het
Vmn2r76	T	C	7: 85,875,114 (GRCm39)	N621S	probably damaging	Het
Wdr75	A	G	1: 45,856,539 (GRCm39)	T521A	probably damaging	Het
Wrnip1	T	A	13: 32,986,739 (GRCm39)	D173E	probably damaging	Het
Zfp317	G	A	9: 19,559,100 (GRCm39)	G438D	probably damaging	Het
Zscan10	T	A	17: 23,826,164 (GRCm39)	S109T	possibly damaging	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
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
R9281:Rab27a	UTSW	9	72,992,278 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGTTCAGGAGTGGGACCATG -3'
(R):5'- AGCTGAAGGGCTTATTCTTAGTAGC -3'

Sequencing Primer
(F):5'- AGGATCTGGCTGGTATACTCCAC -3'
(R):5'- TTAGTAGCCTCGACACTGAGCTG -3'

Posted On

2018-08-01