Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01612:Rabl2'

92151

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rabl2

Ensembl Gene

ENSMUSG00000022621

Gene Name

RAB, member RAS oncogene family-like 2

Synonyms

Rabl2a, 1110031N17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01612

Quality Score

Status

Chromosome

Chromosomal Location

89466736-89476126 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89467615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 119 (K119E)

Ref Sequence

ENSEMBL: ENSMUSP00000091598 (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: K204E

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

SMART Domains

Protein: ENSMUSP00000023294
Gene: ENSMUSG00000022621
AA Change: K204E

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
AA Change: K119E

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000091598
Gene: ENSMUSG00000022621
AA Change: K119E

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

unknown
Transcript: ENSMUST00000171826
AA Change: K52E

SMART Domains

Protein: ENSMUSP00000129221
Gene: ENSMUSG00000022621
AA Change: K52E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172074

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

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,381,988 (GRCm39)	T1326A	possibly damaging	Het
Afg3l1	C	T	8: 124,221,592 (GRCm39)	R484C	probably benign	Het
Atg2a	C	A	19: 6,302,514 (GRCm39)	Q946K	probably benign	Het
Cdh20	T	C	1: 104,921,895 (GRCm39)	Y731H	probably benign	Het
Cdk15	A	G	1: 59,328,932 (GRCm39)	D282G	possibly damaging	Het
Ctnnd2	T	C	15: 31,005,164 (GRCm39)	S1073P	probably damaging	Het
Dnah2	T	C	11: 69,355,889 (GRCm39)		probably benign	Het
Evi2a	T	A	11: 79,417,978 (GRCm39)	R211W	probably damaging	Het
Fmo1	T	A	1: 162,661,168 (GRCm39)	I372F	probably benign	Het
Glyctk	T	C	9: 106,032,471 (GRCm39)	D514G	probably damaging	Het
Gmnc	G	A	16: 26,779,069 (GRCm39)	Q313*	probably null	Het
Grik1	T	C	16: 87,743,623 (GRCm39)	T520A	probably damaging	Het
Gtsf2	A	T	15: 103,353,340 (GRCm39)	C9S	probably damaging	Het
Ift80	T	G	3: 68,870,996 (GRCm39)	N200T	possibly damaging	Het
Ints1	A	G	5: 139,742,047 (GRCm39)	S1771P	probably benign	Het
Lrba	A	G	3: 86,683,484 (GRCm39)	T2769A	possibly damaging	Het
Lrfn2	G	T	17: 49,377,425 (GRCm39)	V169L	possibly damaging	Het
Mei1	G	A	15: 81,973,753 (GRCm39)	R80H	probably damaging	Het
Nbeal2	A	T	9: 110,473,746 (GRCm39)	V31E	probably damaging	Het
Ncapd2	G	T	6: 125,154,835 (GRCm39)	P546T	probably benign	Het
Or52l1	A	G	7: 104,829,929 (GRCm39)	V212A	probably damaging	Het
Pan3	T	C	5: 147,390,052 (GRCm39)		probably benign	Het
Rab3b	T	A	4: 108,781,223 (GRCm39)		probably null	Het
Reln	A	G	5: 22,101,928 (GRCm39)	V3334A	probably damaging	Het
Rfx1	A	G	8: 84,819,601 (GRCm39)		probably null	Het
Rhod	T	C	19: 4,476,247 (GRCm39)	Y168C	probably damaging	Het
Sag	T	C	1: 87,733,071 (GRCm39)	I13T	probably damaging	Het
Sat2	T	C	11: 69,513,789 (GRCm39)		probably null	Het
Scn5a	A	T	9: 119,315,091 (GRCm39)	D1872E	possibly damaging	Het
Sh2b2	T	G	5: 136,260,656 (GRCm39)	I187L	probably benign	Het
Slit3	G	A	11: 35,591,211 (GRCm39)	G1341D	possibly damaging	Het
Tmed11	A	T	5: 108,927,750 (GRCm39)	S95T	possibly damaging	Het
Tmem186	A	G	16: 8,453,733 (GRCm39)	V176A	possibly damaging	Het
Trim12c	A	T	7: 103,997,422 (GRCm39)	S45T	possibly damaging	Het
Ube4b	C	A	4: 149,468,275 (GRCm39)	R167L	probably damaging	Het
Zfp335	A	T	2: 164,752,540 (GRCm39)		probably null	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
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
R5657:Rabl2	UTSW	15	89,472,416 (GRCm39)	missense	probably benign	0.00
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

Posted On

2013-12-09