Incidental Mutation 'IGL01593:Gpr39'
ID |
91647 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gpr39
|
Ensembl Gene |
ENSMUSG00000026343 |
Gene Name |
G protein-coupled receptor 39 |
Synonyms |
4933415E13Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01593
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
125604732-125801599 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 125605188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 39
(I39F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027581
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027581]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027581
AA Change: I39F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000027581 Gene: ENSMUSG00000026343 AA Change: I39F
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
47 |
344 |
1.2e-36 |
PFAM |
low complexity region
|
397 |
406 |
N/A |
INTRINSIC |
|
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 is a member of the ghrelin receptor family and encodes a rhodopsin-type G-protein-coupled receptor (GPCR). The encoded protein is involved in zinc-dependent signaling in epithelial tissue in intestines, prostate and salivary glands. The protein may also be involved in the pathophysiology of depression. [provided by RefSeq, Jun 2016] PHENOTYPE: Mice homozygous for a null mutation display abnormal glucose homeostasis when fed a high sugar diet. Mice homozygous for a different null allele have accelerated gastric emptying, decreased fasting-induced hyperphagia, and increasedbody weight after oneyear of age. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
A |
T |
8: 87,284,279 (GRCm39) |
I310N |
probably damaging |
Het |
Abtb3 |
T |
A |
10: 85,490,339 (GRCm39) |
|
probably benign |
Het |
Ackr4 |
C |
T |
9: 103,963,130 (GRCm39) |
|
probably benign |
Het |
Ankib1 |
A |
T |
5: 3,782,590 (GRCm39) |
D346E |
probably benign |
Het |
Asap2 |
G |
T |
12: 21,263,203 (GRCm39) |
A273S |
probably null |
Het |
Atp6v0d2 |
C |
A |
4: 19,881,436 (GRCm39) |
R219L |
probably damaging |
Het |
Atp6v1e2 |
A |
T |
17: 87,251,727 (GRCm39) |
F224I |
probably damaging |
Het |
Bnc2 |
T |
C |
4: 84,194,478 (GRCm39) |
|
probably null |
Het |
Cd33 |
A |
G |
7: 43,179,705 (GRCm39) |
L241P |
possibly damaging |
Het |
Clec4g |
A |
T |
8: 3,769,474 (GRCm39) |
|
probably null |
Het |
Dym |
C |
T |
18: 75,247,852 (GRCm39) |
|
probably benign |
Het |
Enpp5 |
A |
G |
17: 44,391,612 (GRCm39) |
T14A |
probably benign |
Het |
Ggt1 |
T |
C |
10: 75,421,121 (GRCm39) |
|
probably null |
Het |
Gm17541 |
T |
A |
12: 4,739,868 (GRCm39) |
|
probably benign |
Het |
Kcnb1 |
G |
T |
2: 166,948,127 (GRCm39) |
F240L |
probably damaging |
Het |
Kcnt1 |
T |
A |
2: 25,788,766 (GRCm39) |
V400E |
probably damaging |
Het |
Klhdc7a |
A |
G |
4: 139,694,125 (GRCm39) |
I274T |
probably damaging |
Het |
Lrwd1 |
A |
T |
5: 136,163,483 (GRCm39) |
L71Q |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,528,723 (GRCm39) |
|
probably null |
Het |
Nckap1 |
A |
T |
2: 80,350,914 (GRCm39) |
M725K |
probably benign |
Het |
Odad2 |
T |
C |
18: 7,127,345 (GRCm39) |
K956R |
probably benign |
Het |
Or2b7 |
T |
A |
13: 21,739,389 (GRCm39) |
I268F |
probably damaging |
Het |
Pole2 |
C |
T |
12: 69,269,873 (GRCm39) |
|
probably null |
Het |
Prss32 |
A |
G |
17: 24,074,982 (GRCm39) |
T111A |
probably benign |
Het |
Rgs9 |
A |
G |
11: 109,139,875 (GRCm39) |
|
probably benign |
Het |
Slc2a4 |
A |
G |
11: 69,835,654 (GRCm39) |
C361R |
probably damaging |
Het |
Ston1 |
G |
A |
17: 88,944,438 (GRCm39) |
G615R |
probably null |
Het |
Tas2r139 |
T |
G |
6: 42,117,891 (GRCm39) |
W8G |
probably benign |
Het |
Tmem101 |
A |
T |
11: 102,046,704 (GRCm39) |
L55Q |
probably damaging |
Het |
Tnni3k |
T |
C |
3: 154,646,666 (GRCm39) |
|
probably null |
Het |
Uba2 |
A |
G |
7: 33,845,689 (GRCm39) |
V478A |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,739,545 (GRCm39) |
D52G |
probably damaging |
Het |
|
Other mutations in Gpr39 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Gpr39
|
APN |
1 |
125,800,468 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03051:Gpr39
|
APN |
1 |
125,605,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R0110:Gpr39
|
UTSW |
1 |
125,605,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R0469:Gpr39
|
UTSW |
1 |
125,605,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R1438:Gpr39
|
UTSW |
1 |
125,800,093 (GRCm39) |
utr 3 prime |
probably benign |
|
R1543:Gpr39
|
UTSW |
1 |
125,800,161 (GRCm39) |
missense |
probably damaging |
0.97 |
R1762:Gpr39
|
UTSW |
1 |
125,800,286 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2105:Gpr39
|
UTSW |
1 |
125,605,621 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2291:Gpr39
|
UTSW |
1 |
125,605,278 (GRCm39) |
missense |
probably benign |
0.13 |
R3708:Gpr39
|
UTSW |
1 |
125,800,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R4281:Gpr39
|
UTSW |
1 |
125,605,728 (GRCm39) |
missense |
probably benign |
0.34 |
R4502:Gpr39
|
UTSW |
1 |
125,605,728 (GRCm39) |
missense |
probably benign |
0.34 |
R4503:Gpr39
|
UTSW |
1 |
125,605,728 (GRCm39) |
missense |
probably benign |
0.34 |
R4547:Gpr39
|
UTSW |
1 |
125,605,728 (GRCm39) |
missense |
probably benign |
0.34 |
R4548:Gpr39
|
UTSW |
1 |
125,605,728 (GRCm39) |
missense |
probably benign |
0.34 |
R5198:Gpr39
|
UTSW |
1 |
125,605,173 (GRCm39) |
missense |
probably benign |
|
R6148:Gpr39
|
UTSW |
1 |
125,800,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R7059:Gpr39
|
UTSW |
1 |
125,605,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R7083:Gpr39
|
UTSW |
1 |
125,605,155 (GRCm39) |
missense |
probably damaging |
0.99 |
R7147:Gpr39
|
UTSW |
1 |
125,800,238 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7761:Gpr39
|
UTSW |
1 |
125,605,249 (GRCm39) |
missense |
probably damaging |
0.99 |
R7772:Gpr39
|
UTSW |
1 |
125,605,334 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7887:Gpr39
|
UTSW |
1 |
125,605,279 (GRCm39) |
missense |
probably damaging |
0.99 |
R9262:Gpr39
|
UTSW |
1 |
125,800,524 (GRCm39) |
missense |
probably benign |
0.00 |
R9525:Gpr39
|
UTSW |
1 |
125,800,323 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Gpr39
|
UTSW |
1 |
125,800,580 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2013-12-09 |