Incidental Mutation 'R4281:Gpr39'
ID |
322879 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpr39
|
Ensembl Gene |
ENSMUSG00000026343 |
Gene Name |
G protein-coupled receptor 39 |
Synonyms |
4933415E13Rik |
MMRRC Submission |
041649-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4281 (G1)
|
Quality Score |
225 |
Status
|
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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
92% (44/48) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
B9d2 |
A |
G |
7: 25,380,851 (GRCm39) |
T14A |
possibly damaging |
Het |
Cavin3 |
A |
C |
7: 105,130,981 (GRCm39) |
|
probably null |
Het |
Defa27 |
A |
G |
8: 21,805,632 (GRCm39) |
N24S |
probably benign |
Het |
Defb40 |
A |
G |
8: 19,028,093 (GRCm39) |
S14P |
probably damaging |
Het |
Dnaaf11 |
A |
T |
15: 66,252,378 (GRCm39) |
H429Q |
probably benign |
Het |
Dnmt3a |
G |
A |
12: 3,951,665 (GRCm39) |
G681R |
probably damaging |
Het |
Evc2 |
T |
C |
5: 37,495,938 (GRCm39) |
V16A |
probably benign |
Het |
Fam210b |
T |
C |
2: 172,193,468 (GRCm39) |
Y94H |
probably damaging |
Het |
Gimap8 |
A |
C |
6: 48,635,754 (GRCm39) |
R506S |
probably benign |
Het |
Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
Gsn |
A |
G |
2: 35,188,883 (GRCm39) |
Y434C |
probably damaging |
Het |
Gtf2a1l |
A |
G |
17: 89,019,065 (GRCm39) |
N383S |
possibly damaging |
Het |
Hepacam2 |
G |
A |
6: 3,475,938 (GRCm39) |
T329I |
probably damaging |
Het |
Iqgap3 |
T |
C |
3: 88,006,167 (GRCm39) |
V526A |
probably benign |
Het |
Magea14 |
T |
C |
X: 51,057,867 (GRCm39) |
Y273C |
probably damaging |
Het |
Mark4 |
T |
C |
7: 19,167,371 (GRCm39) |
K456R |
probably benign |
Het |
Nox4 |
A |
G |
7: 86,946,732 (GRCm39) |
I143V |
possibly damaging |
Het |
Or11h7 |
T |
C |
14: 50,891,029 (GRCm39) |
C112R |
probably benign |
Het |
Or12j3 |
A |
G |
7: 139,953,385 (GRCm39) |
I46T |
probably benign |
Het |
Pcdh18 |
A |
G |
3: 49,710,982 (GRCm39) |
L111P |
possibly damaging |
Het |
Pnma5 |
T |
C |
X: 72,079,036 (GRCm39) |
M549V |
probably benign |
Het |
Pnpla6 |
T |
C |
8: 3,571,513 (GRCm39) |
L148P |
probably damaging |
Het |
Ppp4r3c1 |
A |
T |
X: 88,976,105 (GRCm39) |
W31R |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,623,963 (GRCm39) |
|
probably null |
Het |
Rars1 |
T |
C |
11: 35,712,051 (GRCm39) |
E275G |
probably damaging |
Het |
Rasa3 |
A |
G |
8: 13,638,946 (GRCm39) |
V287A |
probably benign |
Het |
Rimbp2 |
C |
T |
5: 128,865,404 (GRCm39) |
R641Q |
possibly damaging |
Het |
Slco6b1 |
A |
G |
1: 96,925,115 (GRCm39) |
|
noncoding transcript |
Het |
Sned1 |
A |
T |
1: 93,213,577 (GRCm39) |
R426* |
probably null |
Het |
Tmem132a |
C |
G |
19: 10,839,090 (GRCm39) |
E451Q |
possibly damaging |
Het |
Tmem229b-ps |
A |
G |
10: 53,351,474 (GRCm39) |
|
noncoding transcript |
Het |
Trim33 |
T |
A |
3: 103,236,402 (GRCm39) |
V504D |
probably damaging |
Het |
Usp47 |
A |
T |
7: 111,709,200 (GRCm39) |
E1315D |
probably benign |
Het |
Zbtb24 |
T |
C |
10: 41,340,916 (GRCm39) |
S649P |
probably benign |
Het |
Zfp28 |
A |
T |
7: 6,396,700 (GRCm39) |
Q378H |
probably benign |
Het |
Zfp612 |
A |
G |
8: 110,816,691 (GRCm39) |
I594V |
probably damaging |
Het |
Zfp692 |
T |
C |
11: 58,205,091 (GRCm39) |
F447L |
probably damaging |
Het |
Zranb3 |
A |
C |
1: 127,891,614 (GRCm39) |
S787R |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCAGGTGAAACTGCTGATTG -3'
(R):5'- TCAGGAATATGATGGTCTGTCTTC -3'
Sequencing Primer
(F):5'- TGTATGGGTCACCTCCGC -3'
(R):5'- AATATGATGGTCTGTCTTCTTGCTG -3'
|
Posted On |
2015-06-20 |