Mutagenetix > Incidental Mutations

Incidental Mutation 'R4276:Rabl2'

322719

Institutional Source

Beutler Lab

Gene Symbol

Rabl2

Ensembl Gene

ENSMUSG00000022621

Gene Name

RAB, member RAS oncogene family-like 2

Synonyms

1110031N17Rik, Rabl2a

MMRRC Submission

041647-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4276 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89582533-89591923 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 89584188 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023294] [ENSMUST00000094056] [ENSMUST00000169466] [ENSMUST00000170126] [ENSMUST00000171580] [ENSMUST00000172053]

Predicted Effect

probably benign
Transcript: ENSMUST00000023294

SMART Domains

Protein: ENSMUSP00000023294
Gene: ENSMUSG00000022621

Domain	Start	End	E-Value	Type
Pfam:Arf	10	196	2.3e-12	PFAM
Pfam:MMR_HSR1	23	134	1.4e-6	PFAM
Pfam:Roc	23	137	2e-35	PFAM
Pfam:Gtr1_RagA	23	171	9e-8	PFAM
Pfam:Ras	23	180	3.8e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094056

SMART Domains

Protein: ENSMUSP00000091598
Gene: ENSMUSG00000022621

Domain	Start	End	E-Value	Type
Blast:RAB	50	94	4e-10	BLAST
SCOP:d3raba_	57	91	1e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165747

Predicted Effect

probably benign
Transcript: ENSMUST00000169466

SMART Domains

Protein: ENSMUSP00000129660
Gene: ENSMUSG00000022621

Domain	Start	End	E-Value	Type
SCOP:d1ek0a_	21	53	8e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170126

SMART Domains

Protein: ENSMUSP00000126182
Gene: ENSMUSG00000022621

Domain	Start	End	E-Value	Type
Pfam:Ras	23	74	1.2e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171142

Predicted Effect

probably benign
Transcript: ENSMUST00000171580

SMART Domains

Protein: ENSMUSP00000128799
Gene: ENSMUSG00000022621

Domain	Start	End	E-Value	Type
SCOP:d1ek0a_	21	38	7e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171826

SMART Domains

Protein: ENSMUSP00000129221
Gene: ENSMUSG00000022621

Domain	Start	End	E-Value	Type
Blast:RAB	2	49	7e-16	BLAST
SCOP:d1fzqa_	3	49	5e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172053

SMART Domains

Protein: ENSMUSP00000129253
Gene: ENSMUSG00000022621

Domain	Start	End	E-Value	Type
Pfam:Arf	10	100	6.5e-9	PFAM
Pfam:Miro	23	102	1.7e-11	PFAM
Pfam:Ras	23	102	4.5e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172074

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (46/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit male infertility, reduced testis weight, oligospermia, asthenozoospermia and short flagellum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	C	A	9: 26,978,449	Q316H	probably null	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Brix1	T	C	15: 10,481,747	D101G	possibly damaging	Het
Cfap36	A	G	11: 29,230,584		probably null	Het
Chrnb3	A	G	8: 27,393,751	N172S	probably damaging	Het
Csnk1e	T	C	15: 79,429,767	N37S	probably damaging	Het
Ern1	T	C	11: 106,407,181	I705V	probably benign	Het
Gimap8	T	C	6: 48,659,083	M594T	probably benign	Het
Gm6578	G	A	6: 12,100,188		noncoding transcript	Het
Gpc6	A	G	14: 117,435,916	D195G	probably damaging	Het
Gpcpd1	T	C	2: 132,540,287	K412E	probably damaging	Het
Insm1	C	A	2: 146,222,968	H235N	probably benign	Het
Jmjd8	A	G	17: 25,829,813		probably benign	Het
Kbtbd8	T	C	6: 95,126,933	V521A	probably damaging	Het
Kcna5	T	C	6: 126,533,366	T600A	probably damaging	Het
Kctd6	G	C	14: 8,222,806	R216P	probably damaging	Het
Lbx1	C	A	19: 45,235,089	V47L	probably benign	Het
Mefv	A	T	16: 3,715,569	N279K	probably benign	Het
Mroh1	T	G	15: 76,393,851	V24G	probably damaging	Het
Nt5c1b	A	G	12: 10,374,886	E142G	probably damaging	Het
Olfr1038-ps	G	A	2: 86,122,279	A119T	probably damaging	Het
Olfr1289	G	T	2: 111,483,504	V25L	probably damaging	Het
Padi2	A	G	4: 140,936,548	E404G	possibly damaging	Het
Pitpnb	A	G	5: 111,371,392		probably null	Het
Plxna4	T	C	6: 32,200,948	N1006S	probably benign	Het
Proc	A	G	18: 32,135,914	V6A	probably benign	Het
Prrc2c	T	A	1: 162,673,591	K1214N	probably damaging	Het
Pstpip2	A	G	18: 77,861,856	I122V	probably benign	Het
Pus10	A	G	11: 23,706,895	E207G	probably damaging	Het
Rbp3	G	A	14: 33,958,650	V1070I	probably benign	Het
Rtl6	T	A	15: 84,557,196		probably benign	Het
Scn7a	T	G	2: 66,684,063	K1122N	probably damaging	Het
Spag16	A	G	1: 69,873,481		probably benign	Het
Spata13	C	T	14: 60,756,296	R396C	probably damaging	Het
Stmn4	A	T	14: 66,355,717		probably benign	Het
Syp	G	T	X: 7,638,692		probably benign	Het
Tmem260	C	T	14: 48,477,636	T249M	probably damaging	Het
Tnrc6b	A	G	15: 80,901,971	I1239V	probably benign	Het
Ubr3	C	T	2: 69,938,387	Q510*	probably null	Het
Vegfa	A	G	17: 46,031,466	V142A	probably benign	Het
Vmn2r93	T	C	17: 18,304,830	I250T	possibly damaging	Het

Other mutations in Rabl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Rabl2	APN	15	89590270	splice site	probably benign
IGL01612:Rabl2	APN	15	89583412	missense	probably benign	0.05
IGL02317:Rabl2	APN	15	89584289	missense	probably damaging	1.00
R0335:Rabl2	UTSW	15	89583966	missense	probably damaging	1.00
R4169:Rabl2	UTSW	15	89590379	start codon destroyed	probably null	0.98
R4330:Rabl2	UTSW	15	89586934	missense	probably benign	0.09
R5657:Rabl2	UTSW	15	89588213	missense	probably benign	0.00
R6242:Rabl2	UTSW	15	89584352	missense	probably benign
X0023:Rabl2	UTSW	15	89583980	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATGTCTGCTGCAGAGAGAAGTG -3'
(R):5'- TACCCTCTGTAGGTATTTGATGTCC -3'

Sequencing Primer
(F):5'- GGGGCATTGGCTTGTCCAC -3'
(R):5'- TTGATGTCCAGAGGAAAATCACC -3'

Posted On

2015-06-20