Incidental Mutation 'R6715:Arl2'
| ID |
529308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arl2
|
| Ensembl Gene |
ENSMUSG00000024944 |
| Gene Name |
ADP-ribosylation factor-like 2 |
| Synonyms |
arf-like protein 2, 2610009M23Rik |
| MMRRC Submission |
044833-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R6715 (G1)
|
| Quality Score |
97.0078 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6184419-6191167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6187555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 98
(R98C)
|
| 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 damaging
Transcript: ENSMUST00000025893
AA Change: R98C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025893
Gene: ENSMUSG00000024944
AA Change: R98C
| Domain | Start | End | E-Value | Type |
|---|
|
ARF
|
1 |
180 |
8.03e-60 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134150
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134821
|
| Meta Mutation Damage Score |
0.9073 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
| Validation Efficiency |
100% (35/35) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
G |
A |
12: 88,425,850 (GRCm39) |
R426H |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,442,948 (GRCm39) |
I105T |
probably damaging |
Het |
| Cnnm2 |
G |
A |
19: 46,842,412 (GRCm39) |
G565E |
probably damaging |
Het |
| Ddx60 |
G |
A |
8: 62,436,924 (GRCm39) |
G958D |
probably benign |
Het |
| Fbxo2 |
T |
A |
4: 148,250,226 (GRCm39) |
M252K |
probably benign |
Het |
| Filip1 |
C |
A |
9: 79,726,040 (GRCm39) |
A860S |
probably benign |
Het |
| Gm11992 |
C |
A |
11: 9,011,214 (GRCm39) |
S218R |
probably damaging |
Het |
| Gnb3 |
A |
G |
6: 124,814,691 (GRCm39) |
L69P |
possibly damaging |
Het |
| Gpr18 |
T |
G |
14: 122,149,389 (GRCm39) |
H212P |
possibly damaging |
Het |
| Iqcb1 |
T |
C |
16: 36,655,991 (GRCm39) |
F126S |
probably damaging |
Het |
| Katnip |
C |
T |
7: 125,361,001 (GRCm39) |
Q104* |
probably null |
Het |
| Kcnh1 |
A |
G |
1: 192,019,949 (GRCm39) |
D425G |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,536,799 (GRCm39) |
|
probably null |
Het |
| Mcm3ap |
C |
T |
10: 76,325,366 (GRCm39) |
T989M |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,623,004 (GRCm39) |
C1999R |
probably benign |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Myof |
A |
T |
19: 37,956,794 (GRCm39) |
D508E |
probably benign |
Het |
| Or52b2 |
A |
T |
7: 104,986,539 (GRCm39) |
I128N |
probably damaging |
Het |
| Or56b2j |
G |
A |
7: 104,353,163 (GRCm39) |
V130M |
possibly damaging |
Het |
| Or5l13 |
T |
A |
2: 87,780,335 (GRCm39) |
M81L |
probably benign |
Het |
| Osbpl7 |
A |
G |
11: 96,945,425 (GRCm39) |
H266R |
probably damaging |
Het |
| Pear1 |
T |
C |
3: 87,666,424 (GRCm39) |
Y93C |
probably damaging |
Het |
| Pgr |
A |
G |
9: 8,965,000 (GRCm39) |
H881R |
possibly damaging |
Het |
| Rfx1 |
A |
G |
8: 84,822,444 (GRCm39) |
E914G |
possibly damaging |
Het |
| Samm50 |
T |
C |
15: 84,095,259 (GRCm39) |
I415T |
probably benign |
Het |
| Snx7 |
T |
C |
3: 117,575,985 (GRCm39) |
D434G |
possibly damaging |
Het |
| Susd4 |
G |
A |
1: 182,719,602 (GRCm39) |
V406M |
probably benign |
Het |
| Syt15 |
G |
T |
14: 33,944,819 (GRCm39) |
G122V |
probably damaging |
Het |
| Tlr5 |
A |
G |
1: 182,800,224 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
T |
C |
12: 57,721,556 (GRCm39) |
|
probably null |
Het |
| Vmn1r211 |
C |
A |
13: 23,035,949 (GRCm39) |
M239I |
probably benign |
Het |
| Vps37a |
G |
T |
8: 40,993,902 (GRCm39) |
|
probably null |
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 |
|
IGL00841:Arl2
|
APN |
19 |
6,185,999 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATCCAAGTCTCAGCCTG -3'
(R):5'- TTCAACATCAAGACCCTGGAG -3'
Sequencing Primer
(F):5'- CTGGGGCCCAGTGAGAGAAC -3'
(R):5'- TCACCGAGGGCCATTGTG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation