Mutagenetix > Incidental Mutation

Incidental Mutation 'R5133:Rab27b'

395988

Institutional Source

Beutler Lab

Gene Symbol

Rab27b

Ensembl Gene

ENSMUSG00000024511

Gene Name

RAB27B, member RAS oncogene family

Synonyms

B130064M09Rik, 2310021G14Rik

MMRRC Submission

042721-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5133 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70112202-70274676 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70122659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 100 (D100G)

Ref Sequence

ENSEMBL: ENSMUSP00000114094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069749] [ENSMUST00000117692] [ENSMUST00000121693]

AlphaFold

Q99P58

Predicted Effect

probably damaging
Transcript: ENSMUST00000069749
AA Change: D100G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068349
Gene: ENSMUSG00000024511
AA Change: D100G

Domain	Start	End	E-Value	Type
RAB	10	184	4.81e-81	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117692
AA Change: D100G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112807
Gene: ENSMUSG00000024511
AA Change: D100G

Domain	Start	End	E-Value	Type
RAB	10	184	4.81e-81	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000121693
AA Change: D100G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114094
Gene: ENSMUSG00000024511
AA Change: D100G

Domain	Start	End	E-Value	Type
RAB	10	184	4.81e-81	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the Rab protein family, including RAB27B, are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking (Chen et al., 1997 [PubMed 9066979]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for one null allele exhibit impaired platelet aggregation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	T	4: 128,655,934 (GRCm39)	T101S	probably damaging	Het
Abraxas2	C	T	7: 132,484,875 (GRCm39)	A306V	probably benign	Het
Acvr1c	T	A	2: 58,173,518 (GRCm39)	N248I	probably damaging	Het
Adgrv1	C	T	13: 81,587,560 (GRCm39)	R4537Q	probably damaging	Het
Adrb3	A	C	8: 27,717,798 (GRCm39)	M217R	probably damaging	Het
Afg3l1	T	C	8: 124,216,532 (GRCm39)	V257A	probably benign	Het
Agbl1	C	A	7: 76,071,904 (GRCm39)	Q334K	probably benign	Het
Aox4	A	T	1: 58,275,835 (GRCm39)	D389V	probably benign	Het
Apob	A	T	12: 8,058,898 (GRCm39)	Q2427L	probably damaging	Het
Asxl3	T	C	18: 22,649,765 (GRCm39)	C585R	probably damaging	Het
Baz2a	G	A	10: 127,951,995 (GRCm39)	G571D	probably damaging	Het
Baz2b	A	T	2: 59,792,368 (GRCm39)	S587T	probably benign	Het
Bicdl2	T	C	17: 23,880,795 (GRCm39)	L14P	unknown	Het
Cachd1	G	A	4: 100,851,935 (GRCm39)	S1177N	probably damaging	Het
Cacna2d3	A	G	14: 29,015,135 (GRCm39)	F86L	possibly damaging	Het
Ccdc192	C	T	18: 57,697,041 (GRCm39)	T65I	possibly damaging	Het
Cd3d	A	T	9: 44,896,296 (GRCm39)	E28D	probably damaging	Het
Cmya5	T	C	13: 93,229,880 (GRCm39)	K1736R	possibly damaging	Het
Col12a1	A	G	9: 79,512,456 (GRCm39)	V2913A	probably damaging	Het
Cops8	A	G	1: 90,538,724 (GRCm39)	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,623 (GRCm39)	E194G	probably benign	Het
Csn1s1	A	G	5: 87,828,737 (GRCm39)	D267G	possibly damaging	Het
Cyp2c40	T	C	19: 39,795,663 (GRCm39)	N172S	probably benign	Het
Dhtkd1	T	A	2: 5,908,813 (GRCm39)	K760N	probably damaging	Het
Dnah17	T	C	11: 118,007,939 (GRCm39)	K691E	probably benign	Het
Dppa4	G	A	16: 48,113,334 (GRCm39)	R189Q	probably benign	Het
Dsp	G	A	13: 38,381,678 (GRCm39)	D2808N	possibly damaging	Het
Egr2	A	G	10: 67,375,605 (GRCm39)	E17G	probably damaging	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Epas1	A	G	17: 87,116,882 (GRCm39)	N184S	probably damaging	Het
Ezh2	C	T	6: 47,517,684 (GRCm39)	C584Y	probably damaging	Het
F10	T	C	8: 13,105,698 (GRCm39)	V421A	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam186a	T	G	15: 99,853,374 (GRCm39)	D122A	unknown	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fam234b	T	C	6: 135,186,193 (GRCm39)	V67A	probably benign	Het
Fbn2	T	C	18: 58,172,412 (GRCm39)	D2131G	probably damaging	Het
Fgfr4	T	C	13: 55,307,828 (GRCm39)	Y271H	probably damaging	Het
Gnmt	A	T	17: 47,036,860 (GRCm39)	S250T	probably benign	Het
Golgb1	C	A	16: 36,711,819 (GRCm39)	Q208K	possibly damaging	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Grwd1	T	C	7: 45,475,298 (GRCm39)	T415A	probably benign	Het
Gsk3b	G	A	16: 38,060,882 (GRCm39)	R418H	probably damaging	Het
Hap1	T	G	11: 100,242,357 (GRCm39)	M382L	probably benign	Het
Hspa12b	A	G	2: 130,981,428 (GRCm39)	E221G	possibly damaging	Het
Hspa4l	T	A	3: 40,741,179 (GRCm39)	D709E	possibly damaging	Het
Il17ra	A	G	6: 120,458,514 (GRCm39)	E555G	possibly damaging	Het
Il27ra	T	C	8: 84,760,688 (GRCm39)	T426A	possibly damaging	Het
Jup	T	C	11: 100,273,941 (GRCm39)	D200G	probably benign	Het
Kcnq1	T	C	7: 142,748,083 (GRCm39)		probably null	Het
Kctd9	C	T	14: 67,966,805 (GRCm39)	T106I	probably damaging	Het
Kmt5b	T	A	19: 3,852,240 (GRCm39)	H159Q	probably damaging	Het
Kprp	C	T	3: 92,731,829 (GRCm39)	R407Q	unknown	Het
Kras	T	C	6: 145,177,879 (GRCm39)	Q131R	probably benign	Het
Krt16	T	A	11: 100,138,457 (GRCm39)	R230S	probably damaging	Het
Lpar6	G	A	14: 73,476,147 (GRCm39)	C36Y	probably damaging	Het
Lrp10	T	C	14: 54,707,067 (GRCm39)	S635P	probably benign	Het
Mapre2	C	A	18: 23,991,190 (GRCm39)	H153N	possibly damaging	Het
Mark3	C	A	12: 111,621,762 (GRCm39)	R703S	probably damaging	Het
Mboat2	A	G	12: 25,009,065 (GRCm39)	D457G	probably benign	Het
Med13	T	C	11: 86,210,675 (GRCm39)	D489G	probably benign	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Mtus1	T	C	8: 41,536,229 (GRCm39)	T496A	probably benign	Het
Nckap5	T	C	1: 125,961,697 (GRCm39)	H204R	probably benign	Het
Nlrc4	G	T	17: 74,753,712 (GRCm39)	P224T	possibly damaging	Het
Oprl1	T	A	2: 181,360,403 (GRCm39)	I153N	probably damaging	Het
Or13a27	A	T	7: 139,925,236 (GRCm39)	I222N	probably damaging	Het
Or4c116	A	T	2: 88,942,140 (GRCm39)		probably null	Het
Or5an1	T	C	19: 12,260,670 (GRCm39)	L86P	possibly damaging	Het
Or5b121	T	A	19: 13,507,442 (GRCm39)	M135K	probably damaging	Het
Otud4	G	A	8: 80,382,318 (GRCm39)	V176I	probably damaging	Het
Pcdhb5	T	C	18: 37,453,943 (GRCm39)	F108L	probably benign	Het
Pde8b	T	C	13: 95,223,250 (GRCm39)	I335V	probably benign	Het
Pdzd7	T	A	19: 45,016,868 (GRCm39)	I886L	possibly damaging	Het
Prune2	C	T	19: 16,980,995 (GRCm39)	P51S	probably damaging	Het
Ptpre	C	T	7: 135,270,861 (GRCm39)	H346Y	probably benign	Het
Pwwp3a	T	C	10: 80,068,702 (GRCm39)	L282P	probably benign	Het
Rpf1	A	G	3: 146,212,293 (GRCm39)	L349S	probably damaging	Het
Samd14	T	C	11: 94,912,409 (GRCm39)	S233P	probably damaging	Het
Sema6a	C	A	18: 47,433,195 (GRCm39)	V79F	probably damaging	Het
Setbp1	A	G	18: 78,900,697 (GRCm39)	I990T	probably damaging	Het
Setx	A	G	2: 29,070,093 (GRCm39)	R2633G	probably benign	Het
Siae	T	G	9: 37,557,816 (GRCm39)	I541S	possibly damaging	Het
Slc13a1	A	G	6: 24,103,428 (GRCm39)	S372P	possibly damaging	Het
Smarcc2	T	C	10: 128,297,342 (GRCm39)		probably null	Het
Snrpf	T	C	10: 93,423,985 (GRCm39)	S2G	probably benign	Het
Speer2	C	A	16: 69,655,708 (GRCm39)	K39N	probably null	Het
Spink5	T	G	18: 44,119,490 (GRCm39)	F267C	probably damaging	Het
Tgfbrap1	G	T	1: 43,114,666 (GRCm39)	R145S	probably damaging	Het
Tmem161b	C	A	13: 84,442,887 (GRCm39)	T269K	possibly damaging	Het
Tmem64	T	C	4: 15,281,119 (GRCm39)	I304T	probably damaging	Het
Tomm7	A	G	5: 24,049,004 (GRCm39)	I23T	probably benign	Het
Top6bl	T	A	19: 4,708,449 (GRCm39)	S194C	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttr	C	T	18: 20,803,167 (GRCm39)	A111V	possibly damaging	Het
Usp47	T	A	7: 111,683,089 (GRCm39)	Y561N	probably damaging	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Wdr45b	A	G	11: 121,219,621 (GRCm39)	I309T	probably benign	Het
Wnt6	T	C	1: 74,823,755 (GRCm39)	L364P	probably damaging	Het
Zc3h13	T	C	14: 75,573,449 (GRCm39)	L1530P	probably damaging	Het
Zfp933	A	G	4: 147,911,321 (GRCm39)	W60R	probably benign	Het

Other mutations in Rab27b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Rab27b	APN	18	70,129,138 (GRCm39)	critical splice donor site	probably null
IGL01387:Rab27b	APN	18	70,118,380 (GRCm39)	missense	possibly damaging	0.95
IGL01395:Rab27b	APN	18	70,118,288 (GRCm39)	missense	probably benign	0.11
IGL01863:Rab27b	APN	18	70,122,625 (GRCm39)	missense	probably damaging	1.00
IGL03399:Rab27b	APN	18	70,120,067 (GRCm39)	missense	possibly damaging	0.58
R0701:Rab27b	UTSW	18	70,118,270 (GRCm39)	missense	probably damaging	1.00
R0744:Rab27b	UTSW	18	70,120,112 (GRCm39)	splice site	probably benign
R0833:Rab27b	UTSW	18	70,120,112 (GRCm39)	splice site	probably benign
R0836:Rab27b	UTSW	18	70,120,112 (GRCm39)	splice site	probably benign
R1797:Rab27b	UTSW	18	70,122,617 (GRCm39)	missense	probably damaging	0.96
R2427:Rab27b	UTSW	18	70,129,205 (GRCm39)	missense	probably damaging	1.00
R4978:Rab27b	UTSW	18	70,127,585 (GRCm39)	missense	probably benign	0.02
R5380:Rab27b	UTSW	18	70,129,226 (GRCm39)	missense	probably damaging	0.99
R6264:Rab27b	UTSW	18	70,122,659 (GRCm39)	missense	probably damaging	0.98
R6603:Rab27b	UTSW	18	70,118,375 (GRCm39)	missense	probably damaging	0.97
R6754:Rab27b	UTSW	18	70,129,174 (GRCm39)	missense	probably damaging	1.00
R8926:Rab27b	UTSW	18	70,129,144 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAAGTCACCCGTTTGGAG -3'
(R):5'- AGCTACAAGTAAATCTTCCCTTCC -3'

Sequencing Primer
(F):5'- CAAGTCACCCGTTTGGAGATGATAC -3'
(R):5'- TGGCCTAGTCTCATGTGTCC -3'

Posted On

2016-06-21