Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02167:Rab2b'

282740

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rab2b

Ensembl Gene

ENSMUSG00000022159

Gene Name

RAB2B, member RAS oncogene family

Synonyms

4930528G15Rik, 1500012D09Rik, D530043M21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

IGL02167

Quality Score

Status

Chromosome

Chromosomal Location

52499216-52516852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52506153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 103 (D103G)

Ref Sequence

ENSEMBL: ENSMUSP00000098197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022765] [ENSMUST00000100631] [ENSMUST00000167116] [ENSMUST00000172488] [ENSMUST00000174020]

AlphaFold

P59279

Predicted Effect

probably damaging
Transcript: ENSMUST00000022765
AA Change: D103G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022765
Gene: ENSMUSG00000022159
AA Change: D103G

Domain	Start	End	E-Value	Type
RAB	7	170	7.66e-107	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000100631
AA Change: D103G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098197
Gene: ENSMUSG00000022159
AA Change: D103G

Domain	Start	End	E-Value	Type
RAB	7	168	6.88e-100	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000167116
AA Change: D103G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131145
Gene: ENSMUSG00000022159
AA Change: D103G

Domain	Start	End	E-Value	Type
RAB	7	170	7.66e-107	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172488

SMART Domains

Protein: ENSMUSP00000133787
Gene: ENSMUSG00000022159

Domain	Start	End	E-Value	Type
Pfam:Miro	8	62	3.5e-7	PFAM
Pfam:Ras	8	62	3.7e-20	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000172634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173046

Predicted Effect

probably benign
Transcript: ENSMUST00000174020

SMART Domains

Protein: ENSMUSP00000134726
Gene: ENSMUSG00000022159

Domain	Start	End	E-Value	Type
small_GTPase	7	70	5.2e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174585

Coding Region Coverage

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 are nontransforming monomeric GTP-binding proteins of the Ras superfamily that contain 4 highly conserved regions involved in GTP binding and hydrolysis. Rab proteins are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking; see MIM 179508.[supplied by OMIM, Apr 2006]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,122,721 (GRCm39)		probably benign	Het
Cacna1f	T	C	X: 7,482,258 (GRCm39)	Y581H	probably damaging	Het
Camsap1	C	T	2: 25,824,312 (GRCm39)	R1416H	probably damaging	Het
Ccdc117	T	C	11: 5,481,333 (GRCm39)	E266G	possibly damaging	Het
Ccdc9	A	T	7: 16,018,284 (GRCm39)	L8*	probably null	Het
Cited2	T	C	10: 17,600,018 (GRCm39)	S109P	probably benign	Het
Cnot4	T	C	6: 35,033,159 (GRCm39)	D286G	possibly damaging	Het
Col5a1	T	C	2: 27,908,568 (GRCm39)	I52T	probably benign	Het
Cry2	T	C	2: 92,264,166 (GRCm39)	N68S	possibly damaging	Het
Cul4a	T	C	8: 13,172,826 (GRCm39)	F153S	probably damaging	Het
Ddr1	T	C	17: 36,000,963 (GRCm39)	S261G	possibly damaging	Het
Depdc5	G	A	5: 33,061,145 (GRCm39)	R324Q	probably damaging	Het
Dmgdh	A	G	13: 93,857,135 (GRCm39)		probably benign	Het
Epha8	A	T	4: 136,658,405 (GRCm39)	M990K	probably damaging	Het
Gpr137c	G	T	14: 45,517,412 (GRCm39)	G383C	probably damaging	Het
Hydin	T	A	8: 111,145,055 (GRCm39)	I802N	possibly damaging	Het
Ifne	A	G	4: 88,798,065 (GRCm39)	Y118H	possibly damaging	Het
Kansl2	T	C	15: 98,431,396 (GRCm39)		probably benign	Het
Lig4	T	A	8: 10,021,821 (GRCm39)	N653I	probably benign	Het
Nagk	A	G	6: 83,778,088 (GRCm39)	D246G	probably damaging	Het
Nav1	A	G	1: 135,398,699 (GRCm39)	S628P	probably damaging	Het
Ncoa3	A	G	2: 165,912,056 (GRCm39)	Y1401C	probably damaging	Het
Ndufa9	A	G	6: 126,821,748 (GRCm39)		probably benign	Het
Nynrin	G	T	14: 56,100,792 (GRCm39)	R194L	probably damaging	Het
Or10a4	A	T	7: 106,696,868 (GRCm39)	R65S	probably benign	Het
Or10ag53	G	A	2: 87,082,542 (GRCm39)	C87Y	probably benign	Het
Or13a17	T	A	7: 140,271,664 (GRCm39)	V282D	probably damaging	Het
Orc2	A	T	1: 58,522,798 (GRCm39)		probably benign	Het
Oxgr1	T	A	14: 120,259,342 (GRCm39)	R288S	probably damaging	Het
Pgap6	T	C	17: 26,338,045 (GRCm39)	S450P	probably damaging	Het
Prkcg	T	C	7: 3,371,097 (GRCm39)		probably null	Het
Prox1	T	C	1: 189,893,477 (GRCm39)	N323D	probably benign	Het
Prrt1	A	C	17: 34,850,829 (GRCm39)	E215A	possibly damaging	Het
Sardh	G	T	2: 27,081,987 (GRCm39)	N846K	probably damaging	Het
Slc38a8	T	A	8: 120,214,099 (GRCm39)	T248S	probably benign	Het
Slc6a18	T	C	13: 73,814,591 (GRCm39)		probably null	Het
Smcp	T	C	3: 92,491,506 (GRCm39)	T114A	unknown	Het
Trpv1	A	G	11: 73,145,623 (GRCm39)	N754D	probably damaging	Het
Txnrd1	A	T	10: 82,717,745 (GRCm39)	H243L	probably benign	Het
Wdfy3	T	C	5: 102,109,023 (GRCm39)	M125V	probably damaging	Het
Wnk2	T	C	13: 49,224,601 (GRCm39)		probably null	Het
Wrn	T	C	8: 33,807,583 (GRCm39)	M292V	probably damaging	Het
Zbtb17	T	C	4: 141,189,140 (GRCm39)	L20P	possibly damaging	Het
Zfp608	T	C	18: 55,121,296 (GRCm39)	H97R	probably damaging	Het
Zfp68	T	A	5: 138,604,629 (GRCm39)	M565L	probably benign	Het
Zfp687	T	C	3: 94,917,841 (GRCm39)	T644A	probably benign	Het
Zfp777	C	T	6: 48,021,460 (GRCm39)	G54D	probably damaging	Het

Other mutations in Rab2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4631:Rab2b	UTSW	14	52,503,699 (GRCm39)	missense	possibly damaging	0.86
R6418:Rab2b	UTSW	14	52,506,164 (GRCm39)	utr 3 prime	probably benign
R7006:Rab2b	UTSW	14	52,503,690 (GRCm39)	missense	probably benign	0.10
R7166:Rab2b	UTSW	14	52,516,802 (GRCm39)	unclassified	probably benign
R7721:Rab2b	UTSW	14	52,501,217 (GRCm39)	missense	probably benign
R7739:Rab2b	UTSW	14	52,503,717 (GRCm39)	missense	probably damaging	0.99
R8051:Rab2b	UTSW	14	52,506,153 (GRCm39)	missense	probably damaging	0.99
R8208:Rab2b	UTSW	14	52,502,224 (GRCm39)	missense	possibly damaging	0.55

Posted On

2015-04-16