Incidental Mutation 'R3708:Gpr39'
ID |
259419 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpr39
|
Ensembl Gene |
ENSMUSG00000026343 |
Gene Name |
G protein-coupled receptor 39 |
Synonyms |
4933415E13Rik |
MMRRC Submission |
040701-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3708 (G1)
|
Quality Score |
164 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
125604732-125801599 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 125800349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 367
(H367Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027581
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027581]
[ENSMUST00000027582]
[ENSMUST00000159417]
[ENSMUST00000159529]
[ENSMUST00000161361]
[ENSMUST00000162899]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027581
AA Change: H367Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027581 Gene: ENSMUSG00000026343 AA Change: H367Y
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
47 |
344 |
1.2e-36 |
PFAM |
low complexity region
|
397 |
406 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000027582
|
SMART Domains |
Protein: ENSMUSP00000027582 Gene: ENSMUSG00000026344
Domain | Start | End | E-Value | Type |
LU
|
24 |
122 |
5.18e-2 |
SMART |
low complexity region
|
126 |
142 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159359
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159417
|
SMART Domains |
Protein: ENSMUSP00000125149 Gene: ENSMUSG00000026344
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
LU
|
23 |
121 |
2.5e-4 |
SMART |
low complexity region
|
125 |
140 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159529
|
SMART Domains |
Protein: ENSMUSP00000123824 Gene: ENSMUSG00000026344
Domain | Start | End | E-Value | Type |
Blast:LU
|
1 |
69 |
4e-32 |
BLAST |
low complexity region
|
73 |
89 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161361
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162899
|
SMART Domains |
Protein: ENSMUSP00000125158 Gene: ENSMUSG00000026344
Domain | Start | End | E-Value | Type |
Blast:LU
|
1 |
69 |
4e-32 |
BLAST |
low complexity region
|
73 |
89 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.4628 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 92.1%
|
Validation Efficiency |
98% (51/52) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Abcc5 |
G |
T |
16: 20,190,930 (GRCm39) |
Q807K |
probably benign |
Het |
Amfr |
T |
C |
8: 94,709,948 (GRCm39) |
H419R |
probably benign |
Het |
Atp8b2 |
A |
T |
3: 89,852,459 (GRCm39) |
F866I |
probably damaging |
Het |
Atxn7l3 |
G |
A |
11: 102,182,705 (GRCm39) |
|
probably benign |
Het |
Bcs1l |
A |
G |
1: 74,629,264 (GRCm39) |
|
probably benign |
Het |
Card11 |
G |
A |
5: 140,872,890 (GRCm39) |
R608C |
probably damaging |
Het |
Celf2 |
C |
A |
2: 6,629,489 (GRCm39) |
K137N |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,231,874 (GRCm39) |
Y1071* |
probably null |
Het |
Cyp2d10 |
A |
G |
15: 82,287,217 (GRCm39) |
F469L |
possibly damaging |
Het |
Cyp3a41a |
A |
G |
5: 145,654,733 (GRCm39) |
|
probably null |
Het |
Dnah8 |
A |
T |
17: 30,958,631 (GRCm39) |
I2158L |
probably damaging |
Het |
Dtnb |
T |
A |
12: 3,639,156 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
T |
C |
12: 110,609,563 (GRCm39) |
F2782L |
probably damaging |
Het |
Ednrb |
A |
G |
14: 104,054,516 (GRCm39) |
Y439H |
probably damaging |
Het |
Ferd3l |
T |
C |
12: 33,978,748 (GRCm39) |
V87A |
probably benign |
Het |
Gphn |
T |
A |
12: 78,579,467 (GRCm39) |
S320T |
probably benign |
Het |
Hspa4l |
A |
T |
3: 40,736,125 (GRCm39) |
N582I |
possibly damaging |
Het |
Ighv1-85 |
A |
T |
12: 115,963,836 (GRCm39) |
W55R |
probably damaging |
Het |
Lelp1 |
A |
C |
3: 92,042,714 (GRCm39) |
C112G |
unknown |
Het |
Lrba |
A |
G |
3: 86,192,331 (GRCm39) |
M82V |
possibly damaging |
Het |
Macrod2 |
C |
A |
2: 141,652,549 (GRCm39) |
T204K |
probably damaging |
Het |
Map2 |
A |
T |
1: 66,455,714 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
T |
C |
11: 62,235,513 (GRCm39) |
K647R |
probably damaging |
Het |
Nr4a3 |
A |
T |
4: 48,056,699 (GRCm39) |
Y417F |
probably damaging |
Het |
Nup50l |
G |
A |
6: 96,142,933 (GRCm39) |
T37I |
possibly damaging |
Het |
Obox7 |
C |
A |
7: 14,398,122 (GRCm39) |
S54* |
probably null |
Het |
Or2n1c |
A |
G |
17: 38,519,174 (GRCm39) |
I13V |
probably benign |
Het |
Or52r1c |
T |
G |
7: 102,735,501 (GRCm39) |
Y254D |
probably damaging |
Het |
Or8b101 |
T |
C |
9: 38,020,740 (GRCm39) |
S253P |
probably damaging |
Het |
Or9g20 |
T |
A |
2: 85,630,342 (GRCm39) |
I91L |
probably benign |
Het |
Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
Pcdhb19 |
T |
A |
18: 37,630,442 (GRCm39) |
I79K |
probably benign |
Het |
Pi4k2a |
C |
T |
19: 42,079,370 (GRCm39) |
Q144* |
probably null |
Het |
Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
Pnma8a |
T |
A |
7: 16,694,150 (GRCm39) |
S2T |
probably damaging |
Het |
Ppfia4 |
T |
C |
1: 134,237,398 (GRCm39) |
E967G |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rims3 |
A |
G |
4: 120,740,352 (GRCm39) |
T100A |
probably damaging |
Het |
Serpinb9 |
A |
T |
13: 33,192,002 (GRCm39) |
N61I |
possibly damaging |
Het |
Sis |
A |
G |
3: 72,850,856 (GRCm39) |
M614T |
probably benign |
Het |
Slc6a17 |
C |
T |
3: 107,400,401 (GRCm39) |
V243I |
probably benign |
Het |
Smad9 |
A |
T |
3: 54,693,602 (GRCm39) |
Y177F |
probably benign |
Het |
Vmn2r69 |
T |
C |
7: 85,061,029 (GRCm39) |
D185G |
probably damaging |
Het |
Vps36 |
G |
T |
8: 22,682,899 (GRCm39) |
V5L |
probably benign |
Het |
Vwa8 |
T |
A |
14: 79,300,136 (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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATGGCTGCAGCAAAACC -3'
(R):5'- TTGGTCTCTGAGCCAGTCTG -3'
Sequencing Primer
(F):5'- CCAAACATGACTGGACCAGAACG -3'
(R):5'- CTGTGGTGACTCAGGACTCAAG -3'
|
Posted On |
2015-01-23 |