Mutagenetix > Incidental Mutation

Incidental Mutation 'R5657:Rabl2'

442400

Institutional Source

Beutler Lab

Gene Symbol

Rabl2

Ensembl Gene

ENSMUSG00000022621

Gene Name

RAB, member RAS oncogene family-like 2

Synonyms

Rabl2a, 1110031N17Rik

MMRRC Submission

043171-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5657 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89466736-89476126 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89472416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 38 (M38V)

Ref Sequence

ENSEMBL: ENSMUSP00000126182 (fasta)

Gene Model

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

AlphaFold

E9Q9D5

Predicted Effect

probably benign
Transcript: ENSMUST00000023294
AA Change: M38V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023294
Gene: ENSMUSG00000022621
AA Change: M38V

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
AA Change: M38V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000126182
Gene: ENSMUSG00000022621
AA Change: M38V

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: ENSMUST00000172053
AA Change: M38V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129253
Gene: ENSMUSG00000022621
AA Change: M38V

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

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: ENSMUST00000171580

SMART Domains

Protein: ENSMUSP00000128799
Gene: ENSMUSG00000022621

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	A	G	5: 31,051,390 (GRCm39)	Y533C	probably damaging	Het
Ahnak	T	C	19: 8,991,979 (GRCm39)	V4421A	probably damaging	Het
Bach1	A	G	16: 87,516,173 (GRCm39)	K238R	probably benign	Het
Bloc1s6	T	A	2: 122,580,577 (GRCm39)	V12D	probably benign	Het
Clca3b	C	A	3: 144,533,144 (GRCm39)	L629F	probably benign	Het
Clhc1	A	G	11: 29,511,431 (GRCm39)	I292V	probably benign	Het
Col27a1	T	C	4: 63,143,547 (GRCm39)	S412P	probably damaging	Het
Col6a4	A	G	9: 105,949,397 (GRCm39)	I746T	probably damaging	Het
Cracr2a	G	A	6: 127,580,970 (GRCm39)	A49T	probably damaging	Het
Cyb561d1	A	G	3: 108,108,008 (GRCm39)	I28T	possibly damaging	Het
Dnah11	T	A	12: 117,847,352 (GRCm39)	M4264L	probably damaging	Het
Dnajc13	A	G	9: 104,105,736 (GRCm39)	L412S	probably damaging	Het
Dpf3	T	C	12: 83,371,785 (GRCm39)	N150S	probably damaging	Het
Epha2	T	C	4: 141,050,805 (GRCm39)	C854R	probably damaging	Het
Fat2	G	T	11: 55,201,507 (GRCm39)	Y522*	probably null	Het
Foxm1	A	T	6: 128,350,351 (GRCm39)	S551C	possibly damaging	Het
Galnt12	T	C	4: 47,104,150 (GRCm39)	V136A	possibly damaging	Het
Gm6647	T	G	5: 13,818,835 (GRCm39)		noncoding transcript	Het
Grin2b	T	A	6: 135,710,085 (GRCm39)	I1154F	possibly damaging	Het
Hmcn1	A	G	1: 150,534,313 (GRCm39)	V2987A	probably benign	Het
Jade2	A	G	11: 51,707,814 (GRCm39)	S800P	probably damaging	Het
Naip6	C	A	13: 100,436,909 (GRCm39)	S538I	probably benign	Het
Or1e33	T	C	11: 73,738,366 (GRCm39)	N195S	probably damaging	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Plod1	T	C	4: 148,003,238 (GRCm39)	E529G	possibly damaging	Het
Plppr2	T	C	9: 21,858,911 (GRCm39)	C343R	probably damaging	Het
Prpf38a	T	C	4: 108,425,621 (GRCm39)	D219G	probably damaging	Het
Ptpra	G	A	2: 130,346,204 (GRCm39)	E122K	probably benign	Het
Reep1	A	G	6: 71,738,358 (GRCm39)	M39V	possibly damaging	Het
Rsf1	GC	GCGGCGGCGTC	7: 97,229,141 (GRCm39)		probably benign	Het
Slc26a10	T	C	10: 127,010,833 (GRCm39)		probably benign	Het
Sun2	C	A	15: 79,612,150 (GRCm39)	E510*	probably null	Het
Tanc1	A	G	2: 59,665,051 (GRCm39)		probably null	Het
Ticam1	TCACACA	TCACA	17: 56,577,629 (GRCm39)		probably null	Het
Tor1aip1	G	T	1: 155,883,234 (GRCm39)	H205N	probably damaging	Het
Trpc6	C	T	9: 8,609,808 (GRCm39)	T92I	probably benign	Het
Vmn2r100	T	A	17: 19,725,178 (GRCm39)	F36I	probably benign	Het
Zfp787	T	C	7: 6,136,053 (GRCm39)	Y66C	probably damaging	Het

Other mutations in Rabl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Rabl2	APN	15	89,474,473 (GRCm39)	splice site	probably benign
IGL01612:Rabl2	APN	15	89,467,615 (GRCm39)	missense	probably benign	0.05
IGL02317:Rabl2	APN	15	89,468,492 (GRCm39)	missense	probably damaging	1.00
R0335:Rabl2	UTSW	15	89,468,169 (GRCm39)	missense	probably damaging	1.00
R4169:Rabl2	UTSW	15	89,474,582 (GRCm39)	start codon destroyed	probably null	0.98
R4276:Rabl2	UTSW	15	89,468,391 (GRCm39)	intron	probably benign
R4330:Rabl2	UTSW	15	89,471,137 (GRCm39)	missense	probably benign	0.09
R6242:Rabl2	UTSW	15	89,468,555 (GRCm39)	missense	probably benign
R9445:Rabl2	UTSW	15	89,468,148 (GRCm39)	missense	probably damaging	1.00
R9513:Rabl2	UTSW	15	89,474,631 (GRCm39)	critical splice acceptor site	probably null
R9516:Rabl2	UTSW	15	89,474,631 (GRCm39)	critical splice acceptor site	probably null
X0023:Rabl2	UTSW	15	89,468,183 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATTTCTGGCAGCAGCTCTGG -3'
(R):5'- AGACTGACCATTGGGAGTCG -3'

Sequencing Primer
(F):5'- CAGCAGCTCTGGGTTGTATG -3'
(R):5'- ACCATTGGGAGTCGCCAGTG -3'

Posted On

2016-11-09