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) question?
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

DomainStartEndE-ValueType
Pfam:7tm_1 47 344 1.2e-36 PFAM
low complexity region 397 406 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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