Incidental Mutation 'IGL02985:Galr1'
ID |
406698 |
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 # |
IGL02985
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
82410621-82424902 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 82411855 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 337
(M337K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066381
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065224]
|
AlphaFold |
P56479 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065224
AA Change: M337K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000066381 Gene: ENSMUSG00000024553 AA Change: M337K
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actc1 |
T |
C |
2: 113,878,641 (GRCm39) |
E318G |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,947,185 (GRCm39) |
V2968A |
probably benign |
Het |
Bltp1 |
T |
C |
3: 37,012,906 (GRCm39) |
L1862S |
probably damaging |
Het |
Cfap91 |
T |
A |
16: 38,118,634 (GRCm39) |
I722F |
probably damaging |
Het |
Csgalnact1 |
A |
G |
8: 68,913,695 (GRCm39) |
V170A |
probably benign |
Het |
Dnaaf10 |
G |
A |
11: 17,179,845 (GRCm39) |
G282E |
probably damaging |
Het |
Dph1 |
A |
G |
11: 75,074,419 (GRCm39) |
V131A |
possibly damaging |
Het |
Gm14214 |
G |
T |
2: 154,611,374 (GRCm39) |
T160N |
probably benign |
Het |
Gpatch8 |
G |
T |
11: 102,372,336 (GRCm39) |
H401N |
unknown |
Het |
Higd1a |
A |
G |
9: 121,681,596 (GRCm39) |
F20L |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,547,668 (GRCm39) |
I2761K |
probably damaging |
Het |
Hspg2 |
T |
A |
4: 137,235,114 (GRCm39) |
Y83N |
probably damaging |
Het |
Ilvbl |
C |
T |
10: 78,414,901 (GRCm39) |
P255S |
probably benign |
Het |
Kpna2 |
T |
C |
11: 106,880,163 (GRCm39) |
Y495C |
probably benign |
Het |
Krt36 |
G |
T |
11: 99,994,005 (GRCm39) |
Q327K |
probably benign |
Het |
Lrrc34 |
T |
C |
3: 30,690,444 (GRCm39) |
M153V |
probably benign |
Het |
Map9 |
A |
T |
3: 82,267,209 (GRCm39) |
R30* |
probably null |
Het |
Mcf2l |
A |
G |
8: 13,013,239 (GRCm39) |
Y48C |
probably damaging |
Het |
Mfsd13b |
T |
A |
7: 120,599,395 (GRCm39) |
I397K |
probably damaging |
Het |
Mpp7 |
C |
A |
18: 7,461,637 (GRCm39) |
|
probably null |
Het |
Mrgprx2 |
C |
T |
7: 48,132,245 (GRCm39) |
C191Y |
probably damaging |
Het |
Or4c58 |
A |
T |
2: 89,674,684 (GRCm39) |
I211N |
possibly damaging |
Het |
Pabpc4l |
A |
G |
3: 46,401,017 (GRCm39) |
V209A |
possibly damaging |
Het |
Pde7a |
T |
A |
3: 19,365,047 (GRCm39) |
H40L |
probably damaging |
Het |
Phactr3 |
T |
C |
2: 177,817,250 (GRCm39) |
V22A |
probably benign |
Het |
Plcl2 |
G |
T |
17: 50,994,842 (GRCm39) |
E1104* |
probably null |
Het |
Ppp2cb |
A |
G |
8: 34,105,474 (GRCm39) |
|
probably benign |
Het |
Prl3c1 |
A |
T |
13: 27,383,370 (GRCm39) |
Y12F |
probably damaging |
Het |
Prune2 |
T |
C |
19: 16,993,723 (GRCm39) |
|
probably null |
Het |
Rfesd |
T |
C |
13: 76,156,331 (GRCm39) |
D25G |
probably damaging |
Het |
Rxfp1 |
C |
A |
3: 79,559,533 (GRCm39) |
M429I |
possibly damaging |
Het |
Tmf1 |
A |
G |
6: 97,153,770 (GRCm39) |
L101P |
probably damaging |
Het |
Ube2d2b |
T |
C |
5: 107,978,663 (GRCm39) |
S105P |
probably damaging |
Het |
Zfp518a |
C |
T |
19: 40,902,111 (GRCm39) |
T680I |
possibly 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 |
IGL02047:Galr1
|
APN |
18 |
82,424,118 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2016-08-02 |