Incidental Mutation 'IGL00841:Arl2'
| ID |
88912 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arl2
|
| Ensembl Gene |
ENSMUSG00000024944 |
| Gene Name |
ADP-ribosylation factor-like 2 |
| Synonyms |
arf-like protein 2, 2610009M23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
IGL00841
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6184419-6191167 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 6185999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025893
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025893]
|
| AlphaFold |
Q9D0J4 |
| PDB Structure |
Complex of Arl2 and PDE delta, Crystal Form 1 [X-RAY DIFFRACTION]
Complex of Arl2 and PDE delta, Crystal Form 2 (native) [X-RAY DIFFRACTION]
Complex of Arl2 and PDE delta, Crystal Form 2 (SeMet) [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025893
|
| SMART Domains |
Protein: ENSMUSP00000025893
Gene: ENSMUSG00000024944
| Domain | Start | End | E-Value | Type |
|---|
|
ARF
|
1 |
180 |
8.03e-60 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134821
|
| 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 encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankdd1b |
T |
C |
13: 96,554,338 (GRCm39) |
|
probably benign |
Het |
| Atp8b4 |
A |
G |
2: 126,225,689 (GRCm39) |
S514P |
probably damaging |
Het |
| Ces1a |
G |
T |
8: 93,766,164 (GRCm39) |
S150* |
probably null |
Het |
| Ces1g |
T |
A |
8: 94,029,615 (GRCm39) |
D539V |
possibly damaging |
Het |
| Col24a1 |
A |
G |
3: 145,068,064 (GRCm39) |
D752G |
probably damaging |
Het |
| Ctsd |
A |
C |
7: 141,936,418 (GRCm39) |
S128A |
probably damaging |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Dscam |
G |
A |
16: 96,621,077 (GRCm39) |
L544F |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,346,189 (GRCm39) |
I1566N |
probably benign |
Het |
| Fut8 |
T |
A |
12: 77,412,095 (GRCm39) |
H148Q |
probably benign |
Het |
| Ighv1-64 |
A |
T |
12: 115,471,596 (GRCm39) |
M1K |
probably null |
Het |
| Ivd |
T |
C |
2: 118,707,383 (GRCm39) |
V299A |
probably benign |
Het |
| Kcnab3 |
A |
G |
11: 69,222,129 (GRCm39) |
I292V |
probably benign |
Het |
| Mfhas1 |
T |
A |
8: 36,058,040 (GRCm39) |
N838K |
probably damaging |
Het |
| Prom1 |
A |
T |
5: 44,220,458 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
T |
G |
10: 52,020,969 (GRCm39) |
T648P |
possibly damaging |
Het |
| Scel |
A |
T |
14: 103,767,431 (GRCm39) |
Q30L |
probably benign |
Het |
| Skp2 |
A |
C |
15: 9,139,574 (GRCm39) |
S40R |
probably benign |
Het |
| Tm9sf1 |
T |
A |
14: 55,880,184 (GRCm39) |
K71M |
probably damaging |
Het |
| Vegfb |
A |
G |
19: 6,963,846 (GRCm39) |
W38R |
probably damaging |
Het |
| Xpo1 |
T |
G |
11: 23,235,094 (GRCm39) |
F588V |
probably damaging |
Het |
| Zfp990 |
C |
A |
4: 145,264,438 (GRCm39) |
L479M |
probably damaging |
Het |
|
| Other mutations in Arl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00482:Arl2
|
APN |
19 |
6,191,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01883:Arl2
|
APN |
19 |
6,187,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0833:Arl2
|
UTSW |
19 |
6,186,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1300:Arl2
|
UTSW |
19 |
6,191,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3952:Arl2
|
UTSW |
19 |
6,184,707 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4669:Arl2
|
UTSW |
19 |
6,184,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4692:Arl2
|
UTSW |
19 |
6,187,776 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5683:Arl2
|
UTSW |
19 |
6,184,794 (GRCm39) |
missense |
probably benign |
|
|
R6715:Arl2
|
UTSW |
19 |
6,187,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Arl2
|
UTSW |
19 |
6,191,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7100:Arl2
|
UTSW |
19 |
6,184,774 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8212:Arl2
|
UTSW |
19 |
6,187,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8226:Arl2
|
UTSW |
19 |
6,187,506 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation