Incidental Mutation 'IGL02047:Galr1'
| ID |
184968 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Galr1
|
| Ensembl Gene |
ENSMUSG00000024553 |
| Gene Name |
galanin receptor 1 |
| Synonyms |
Galnr1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02047
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
82410621-82424902 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 82424118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 53
(L53Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065224]
|
| AlphaFold |
P56479 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065224
AA Change: L53Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066381
Gene: ENSMUSG00000024553
AA Change: L53Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srw
|
38 |
320 |
3e-8 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
44 |
317 |
1.5e-11 |
PFAM |
|
Pfam:7tm_1
|
50 |
302 |
3.6e-56 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
53 |
319 |
1.2e-7 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The neuropeptide galanin elicits a range of biological effects by interaction with specific G-protein-coupled receptors. Galanin receptors are seven-transmembrane proteins shown to activate a variety of intracellular second-messenger pathways. GALR1 inhibits adenylyl cyclase via a G protein of the Gi/Go family. GALR1 is widely expressed in the brain and spinal cord, as well as in peripheral sites such as the small intestine and heart. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
G |
T |
6: 92,808,909 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,728,324 (GRCm39) |
N681S |
possibly damaging |
Het |
| Arpp19 |
T |
G |
9: 74,964,058 (GRCm39) |
S137A |
probably damaging |
Het |
| Bmp2 |
T |
C |
2: 133,402,896 (GRCm39) |
L149P |
probably damaging |
Het |
| Bpifb1 |
T |
C |
2: 154,044,536 (GRCm39) |
M1T |
probably null |
Het |
| Btbd7 |
T |
C |
12: 102,760,038 (GRCm39) |
S637G |
probably benign |
Het |
| Cyp51 |
T |
A |
5: 4,149,244 (GRCm39) |
H211L |
possibly damaging |
Het |
| Cyth1 |
C |
A |
11: 118,059,958 (GRCm39) |
Q333H |
probably damaging |
Het |
| Dennd5a |
G |
A |
7: 109,533,991 (GRCm39) |
T67M |
possibly damaging |
Het |
| Dse |
A |
T |
10: 34,038,841 (GRCm39) |
Y51* |
probably null |
Het |
| Dynlt3 |
A |
T |
X: 9,522,665 (GRCm39) |
Y76* |
probably null |
Het |
| Fabp12 |
T |
C |
3: 10,312,778 (GRCm39) |
|
probably benign |
Het |
| Igkv4-70 |
A |
T |
6: 69,244,911 (GRCm39) |
D103E |
probably damaging |
Het |
| Il2 |
T |
C |
3: 37,180,000 (GRCm39) |
N19S |
probably benign |
Het |
| Jhy |
T |
C |
9: 40,828,476 (GRCm39) |
I477V |
probably benign |
Het |
| Kcnk4 |
A |
G |
19: 6,903,626 (GRCm39) |
S308P |
probably benign |
Het |
| Lipo3 |
A |
T |
19: 33,534,562 (GRCm39) |
I299K |
probably benign |
Het |
| Mark3 |
T |
A |
12: 111,584,797 (GRCm39) |
I131N |
probably damaging |
Het |
| Msr1 |
A |
G |
8: 40,077,001 (GRCm39) |
V137A |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,316,361 (GRCm39) |
V482E |
probably benign |
Het |
| Pcsk1 |
T |
C |
13: 75,246,108 (GRCm39) |
V162A |
probably benign |
Het |
| Phf8-ps |
C |
T |
17: 33,286,275 (GRCm39) |
V176M |
probably damaging |
Het |
| Plekhb1 |
A |
G |
7: 100,304,506 (GRCm39) |
V47A |
probably damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,552,258 (GRCm39) |
M418I |
probably benign |
Het |
| Slc24a4 |
T |
C |
12: 102,220,882 (GRCm39) |
F438L |
probably damaging |
Het |
| Slc38a5 |
G |
T |
X: 8,139,879 (GRCm39) |
V127L |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,233,834 (GRCm39) |
|
probably benign |
Het |
| Tdh |
A |
T |
14: 63,734,407 (GRCm39) |
H80Q |
probably benign |
Het |
| Tshz3 |
A |
C |
7: 36,469,893 (GRCm39) |
K627N |
probably damaging |
Het |
| Usp28 |
C |
T |
9: 48,946,941 (GRCm39) |
P791S |
probably damaging |
Het |
| Wdr81 |
A |
G |
11: 75,336,332 (GRCm39) |
Y1686H |
probably damaging |
Het |
| Xpot |
G |
T |
10: 121,437,267 (GRCm39) |
|
probably benign |
Het |
| Zfand4 |
G |
A |
6: 116,291,889 (GRCm39) |
G627R |
probably damaging |
Het |
|
| Other mutations in Galr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01992:Galr1
|
APN |
18 |
82,411,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02985:Galr1
|
APN |
18 |
82,411,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0147:Galr1
|
UTSW |
18 |
82,423,695 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0148:Galr1
|
UTSW |
18 |
82,423,695 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0417:Galr1
|
UTSW |
18 |
82,423,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1080:Galr1
|
UTSW |
18 |
82,423,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1481:Galr1
|
UTSW |
18 |
82,423,866 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2422:Galr1
|
UTSW |
18 |
82,424,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4896:Galr1
|
UTSW |
18 |
82,412,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5219:Galr1
|
UTSW |
18 |
82,412,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5272:Galr1
|
UTSW |
18 |
82,423,761 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5506:Galr1
|
UTSW |
18 |
82,423,989 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5870:Galr1
|
UTSW |
18 |
82,424,197 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5900:Galr1
|
UTSW |
18 |
82,411,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7229:Galr1
|
UTSW |
18 |
82,423,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7408:Galr1
|
UTSW |
18 |
82,411,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7897:Galr1
|
UTSW |
18 |
82,424,256 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8551:Galr1
|
UTSW |
18 |
82,424,191 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8952:Galr1
|
UTSW |
18 |
82,411,909 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9632:Galr1
|
UTSW |
18 |
82,424,103 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9710:Galr1
|
UTSW |
18 |
82,424,103 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9801:Galr1
|
UTSW |
18 |
82,423,912 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Z1177:Galr1
|
UTSW |
18 |
82,423,897 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation