Incidental Mutation 'IGL03051:Gpr39'
| ID |
409053 |
| 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 # |
IGL03051
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
125604732-125801599 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125605485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 138
(C138S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027581]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027581
AA Change: C138S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027581
Gene: ENSMUSG00000026343
AA Change: C138S
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
G |
T |
6: 86,964,283 (GRCm39) |
|
probably benign |
Het |
| Abhd14a |
A |
T |
9: 106,321,128 (GRCm39) |
F76I |
possibly damaging |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,260,233 (GRCm39) |
C149* |
probably null |
Het |
| Appbp2 |
A |
T |
11: 85,082,565 (GRCm39) |
D555E |
possibly damaging |
Het |
| Arhgap25 |
T |
C |
6: 87,472,896 (GRCm39) |
Q87R |
probably null |
Het |
| Baz1b |
T |
A |
5: 135,246,079 (GRCm39) |
N509K |
probably benign |
Het |
| Ccn4 |
T |
A |
15: 66,778,399 (GRCm39) |
C73* |
probably null |
Het |
| Ces5a |
C |
A |
8: 94,255,226 (GRCm39) |
G156C |
probably damaging |
Het |
| Chtf18 |
G |
A |
17: 25,939,938 (GRCm39) |
R723W |
probably damaging |
Het |
| Clec4e |
A |
G |
6: 123,266,692 (GRCm39) |
S6P |
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,769,696 (GRCm39) |
I468V |
probably damaging |
Het |
| Epb41l4a |
A |
T |
18: 34,007,825 (GRCm39) |
Y233N |
probably damaging |
Het |
| Fam210b |
C |
T |
2: 172,194,612 (GRCm39) |
H155Y |
probably benign |
Het |
| Frmd4b |
A |
T |
6: 97,272,943 (GRCm39) |
C770* |
probably null |
Het |
| Gpa33 |
A |
G |
1: 165,992,790 (GRCm39) |
H301R |
probably benign |
Het |
| Gtf2i |
T |
A |
5: 134,271,768 (GRCm39) |
K858* |
probably null |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,576 (GRCm39) |
|
probably benign |
Het |
| Iglv1 |
T |
C |
16: 18,903,973 (GRCm39) |
T49A |
possibly damaging |
Het |
| Kif17 |
A |
C |
4: 138,016,565 (GRCm39) |
D416A |
probably damaging |
Het |
| Mib2 |
T |
C |
4: 155,741,747 (GRCm39) |
T431A |
probably damaging |
Het |
| Mpz |
G |
A |
1: 170,986,380 (GRCm39) |
R98H |
probably damaging |
Het |
| Naa16 |
T |
C |
14: 79,606,522 (GRCm39) |
E337G |
probably benign |
Het |
| Odam |
G |
A |
5: 88,040,335 (GRCm39) |
|
probably benign |
Het |
| Or1e1f |
T |
A |
11: 73,855,860 (GRCm39) |
L142H |
probably benign |
Het |
| Parp2 |
T |
C |
14: 51,056,805 (GRCm39) |
|
probably benign |
Het |
| Pcdh7 |
T |
G |
5: 58,286,415 (GRCm39) |
S1164A |
probably damaging |
Het |
| Pkp4 |
G |
T |
2: 59,142,106 (GRCm39) |
A470S |
probably benign |
Het |
| Plin4 |
A |
T |
17: 56,412,417 (GRCm39) |
M538K |
possibly damaging |
Het |
| Prex2 |
T |
C |
1: 11,212,889 (GRCm39) |
V624A |
probably damaging |
Het |
| Rps6ka5 |
A |
C |
12: 100,582,250 (GRCm39) |
|
probably null |
Het |
| Simc1 |
T |
C |
13: 54,674,036 (GRCm39) |
S795P |
probably benign |
Het |
| Slc35b4 |
A |
T |
6: 34,137,406 (GRCm39) |
|
probably null |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Syt14 |
T |
C |
1: 192,615,528 (GRCm39) |
N486S |
probably benign |
Het |
| Trim59 |
T |
C |
3: 68,944,206 (GRCm39) |
N378S |
probably benign |
Het |
| Wdr17 |
T |
A |
8: 55,104,349 (GRCm39) |
D908V |
probably damaging |
Het |
| Wdr74 |
A |
G |
19: 8,716,875 (GRCm39) |
|
probably benign |
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 |
|
IGL01593:Gpr39
|
APN |
1 |
125,605,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2016-08-02 |
Incidental Mutation