Incidental Mutation 'R4548:Gpr39'
ID |
333849 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpr39
|
Ensembl Gene |
ENSMUSG00000026343 |
Gene Name |
G protein-coupled receptor 39 |
Synonyms |
4933415E13Rik |
MMRRC Submission |
041594-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4548 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
125604732-125801599 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 125605728 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 219
(V219I)
|
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: V219I
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000027581 Gene: ENSMUSG00000026343 AA Change: V219I
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
47 |
344 |
1.2e-36 |
PFAM |
low complexity region
|
397 |
406 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
T |
17: 24,553,245 (GRCm39) |
F155L |
possibly damaging |
Het |
Adcy6 |
A |
G |
15: 98,496,540 (GRCm39) |
I545T |
probably damaging |
Het |
Afg2a |
T |
A |
3: 37,486,176 (GRCm39) |
N299K |
probably benign |
Het |
Akip1 |
C |
A |
7: 109,304,193 (GRCm39) |
S90* |
probably null |
Het |
Anln |
T |
C |
9: 22,274,184 (GRCm39) |
D551G |
possibly damaging |
Het |
Arhgef17 |
T |
C |
7: 100,580,336 (GRCm39) |
Q204R |
possibly damaging |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Bcl2l11 |
A |
G |
2: 127,971,566 (GRCm39) |
E75G |
probably benign |
Het |
Cfap45 |
A |
G |
1: 172,372,675 (GRCm39) |
I457V |
probably benign |
Het |
Cfap65 |
G |
A |
1: 74,946,771 (GRCm39) |
T1313I |
probably damaging |
Het |
Cntln |
C |
A |
4: 85,015,079 (GRCm39) |
H1123Q |
probably benign |
Het |
Cops3 |
C |
T |
11: 59,718,671 (GRCm39) |
|
probably null |
Het |
Dis3l2 |
A |
T |
1: 86,977,393 (GRCm39) |
T861S |
probably benign |
Het |
Dnajc11 |
A |
G |
4: 152,058,074 (GRCm39) |
N281S |
possibly damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
Fras1 |
A |
G |
5: 96,857,754 (GRCm39) |
D2016G |
probably benign |
Het |
Greb1 |
T |
C |
12: 16,749,676 (GRCm39) |
D1050G |
probably damaging |
Het |
Kcnh6 |
T |
C |
11: 105,899,875 (GRCm39) |
F48S |
probably damaging |
Het |
Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
Mrm2 |
T |
C |
5: 140,314,251 (GRCm39) |
T195A |
probably benign |
Het |
Myzap |
T |
C |
9: 71,457,528 (GRCm39) |
E289G |
possibly damaging |
Het |
Nemp1 |
A |
G |
10: 127,532,213 (GRCm39) |
E373G |
probably benign |
Het |
Or13c7 |
T |
A |
4: 43,854,834 (GRCm39) |
I175N |
probably damaging |
Het |
Or8h10 |
T |
C |
2: 86,809,014 (GRCm39) |
N42S |
probably damaging |
Het |
Polr1c |
A |
T |
17: 46,558,735 (GRCm39) |
|
probably null |
Het |
Rev1 |
A |
G |
1: 38,098,275 (GRCm39) |
M756T |
possibly damaging |
Het |
Sacs |
A |
G |
14: 61,429,387 (GRCm39) |
D482G |
probably damaging |
Het |
Sfrp4 |
A |
G |
13: 19,807,936 (GRCm39) |
M112V |
possibly damaging |
Het |
Slc7a4 |
T |
C |
16: 17,393,209 (GRCm39) |
T197A |
probably benign |
Het |
Snx27 |
C |
T |
3: 94,433,746 (GRCm39) |
|
probably benign |
Het |
Speer2 |
T |
C |
16: 69,655,737 (GRCm39) |
K30E |
probably damaging |
Het |
Ssh2 |
G |
A |
11: 77,341,010 (GRCm39) |
A721T |
probably benign |
Het |
Trappc3 |
A |
G |
4: 126,166,544 (GRCm39) |
D39G |
possibly damaging |
Het |
Ttc28 |
G |
A |
5: 111,419,090 (GRCm39) |
S1362N |
possibly damaging |
Het |
Ugt2b35 |
A |
T |
5: 87,156,134 (GRCm39) |
K409* |
probably null |
Het |
Vmn2r92 |
A |
T |
17: 18,391,578 (GRCm39) |
M527L |
probably benign |
Het |
Zbed5 |
T |
A |
5: 129,931,692 (GRCm39) |
L547* |
probably null |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTTTGTATGGGTCACCTC -3'
(R):5'- CGACCTAGACTCACTCAGGAATATG -3'
Sequencing Primer
(F):5'- TATGGGTCACCTCCGCCC -3'
(R):5'- GACTCACTCAGGAATATGATGGTCTG -3'
|
Posted On |
2015-08-18 |