Incidental Mutation 'R4276:Rabl2'
| ID |
322719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabl2
|
| Ensembl Gene |
ENSMUSG00000022621 |
| Gene Name |
RAB, member RAS oncogene family-like 2 |
| Synonyms |
Rabl2a, 1110031N17Rik |
| MMRRC Submission |
041647-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4276 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89466736-89476126 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 89468391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023294]
[ENSMUST00000094056]
[ENSMUST00000169466]
[ENSMUST00000170126]
[ENSMUST00000172053]
[ENSMUST00000171580]
|
| AlphaFold |
E9Q9D5 |
| 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 |
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: 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 |
- 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: 26,889,745 (GRCm39) |
Q316H |
probably null |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Brix1 |
T |
C |
15: 10,481,833 (GRCm39) |
D101G |
possibly damaging |
Het |
| Cfap36 |
A |
G |
11: 29,180,584 (GRCm39) |
|
probably null |
Het |
| Chrnb3 |
A |
G |
8: 27,883,779 (GRCm39) |
N172S |
probably damaging |
Het |
| Csnk1e |
T |
C |
15: 79,313,967 (GRCm39) |
N37S |
probably damaging |
Het |
| Ern1 |
T |
C |
11: 106,298,007 (GRCm39) |
I705V |
probably benign |
Het |
| Gimap8 |
T |
C |
6: 48,636,017 (GRCm39) |
M594T |
probably benign |
Het |
| Gm6578 |
G |
A |
6: 12,100,187 (GRCm39) |
|
noncoding transcript |
Het |
| Gpc6 |
A |
G |
14: 117,673,328 (GRCm39) |
D195G |
probably damaging |
Het |
| Gpcpd1 |
T |
C |
2: 132,382,207 (GRCm39) |
K412E |
probably damaging |
Het |
| Insm1 |
C |
A |
2: 146,064,888 (GRCm39) |
H235N |
probably benign |
Het |
| Jmjd8 |
A |
G |
17: 26,048,787 (GRCm39) |
|
probably benign |
Het |
| Kbtbd8 |
T |
C |
6: 95,103,914 (GRCm39) |
V521A |
probably damaging |
Het |
| Kcna5 |
T |
C |
6: 126,510,329 (GRCm39) |
T600A |
probably damaging |
Het |
| Kctd6 |
G |
C |
14: 8,222,806 (GRCm38) |
R216P |
probably damaging |
Het |
| Lbx1 |
C |
A |
19: 45,223,528 (GRCm39) |
V47L |
probably benign |
Het |
| Mefv |
A |
T |
16: 3,533,433 (GRCm39) |
N279K |
probably benign |
Het |
| Mroh1 |
T |
G |
15: 76,278,051 (GRCm39) |
V24G |
probably damaging |
Het |
| Nt5c1b |
A |
G |
12: 10,424,886 (GRCm39) |
E142G |
probably damaging |
Het |
| Or4f4b |
G |
T |
2: 111,313,849 (GRCm39) |
V25L |
probably damaging |
Het |
| Or8u3-ps |
G |
A |
2: 85,952,623 (GRCm39) |
A119T |
probably damaging |
Het |
| Padi2 |
A |
G |
4: 140,663,859 (GRCm39) |
E404G |
possibly damaging |
Het |
| Pitpnb |
A |
G |
5: 111,519,258 (GRCm39) |
|
probably null |
Het |
| Plxna4 |
T |
C |
6: 32,177,883 (GRCm39) |
N1006S |
probably benign |
Het |
| Proc |
A |
G |
18: 32,268,967 (GRCm39) |
V6A |
probably benign |
Het |
| Prrc2c |
T |
A |
1: 162,501,160 (GRCm39) |
K1214N |
probably damaging |
Het |
| Pstpip2 |
A |
G |
18: 77,949,556 (GRCm39) |
I122V |
probably benign |
Het |
| Pus10 |
A |
G |
11: 23,656,895 (GRCm39) |
E207G |
probably damaging |
Het |
| Rbp3 |
G |
A |
14: 33,680,607 (GRCm39) |
V1070I |
probably benign |
Het |
| Rtl6 |
T |
A |
15: 84,441,397 (GRCm39) |
|
probably benign |
Het |
| Scn7a |
T |
G |
2: 66,514,407 (GRCm39) |
K1122N |
probably damaging |
Het |
| Spag16 |
A |
G |
1: 69,912,640 (GRCm39) |
|
probably benign |
Het |
| Spata13 |
C |
T |
14: 60,993,745 (GRCm39) |
R396C |
probably damaging |
Het |
| Stmn4 |
A |
T |
14: 66,593,166 (GRCm39) |
|
probably benign |
Het |
| Syp |
G |
T |
X: 7,504,931 (GRCm39) |
|
probably benign |
Het |
| Tmem260 |
C |
T |
14: 48,715,093 (GRCm39) |
T249M |
probably damaging |
Het |
| Tnrc6b |
A |
G |
15: 80,786,172 (GRCm39) |
I1239V |
probably benign |
Het |
| Ubr3 |
C |
T |
2: 69,768,731 (GRCm39) |
Q510* |
probably null |
Het |
| Vegfa |
A |
G |
17: 46,342,392 (GRCm39) |
V142A |
probably benign |
Het |
| Vmn2r93 |
T |
C |
17: 18,525,092 (GRCm39) |
I250T |
possibly 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 |
|
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 |
|
| 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 |
Incidental Mutation