Incidental Mutation 'IGL03051:Gpr39'
ID409053
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr39
Ensembl Gene ENSMUSG00000026343
Gene NameG protein-coupled receptor 39
Synonyms4933415E13Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03051
Quality Score
Status
Chromosome1
Chromosomal Location125676995-125873862 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 125677748 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 138 (C138S)
Ref Sequence ENSEMBL: ENSMUSP00000027581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027581]
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 G T 6: 86,987,301 probably benign Het
Abhd14a A T 9: 106,443,929 F76I possibly damaging Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Akap13 T A 7: 75,610,485 C149* probably null Het
Appbp2 A T 11: 85,191,739 D555E possibly damaging Het
Arhgap25 T C 6: 87,495,914 Q87R probably null Het
Baz1b T A 5: 135,217,225 N509K probably benign Het
Ces5a C A 8: 93,528,598 G156C probably damaging Het
Chtf18 G A 17: 25,720,964 R723W probably damaging Het
Clec4e A G 6: 123,289,733 S6P probably benign Het
Dennd4a A G 9: 64,862,414 I468V probably damaging Het
Epb41l4a A T 18: 33,874,772 Y233N probably damaging Het
Fam210b C T 2: 172,352,692 H155Y probably benign Het
Frmd4b A T 6: 97,295,982 C770* probably null Het
Gpa33 A G 1: 166,165,221 H301R probably benign Het
Gtf2i T A 5: 134,242,914 K858* probably null Het
Ighv7-1 A T 12: 113,896,956 probably benign Het
Iglv1 T C 16: 19,085,223 T49A possibly damaging Het
Kif17 A C 4: 138,289,254 D416A probably damaging Het
Mib2 T C 4: 155,657,290 T431A probably damaging Het
Mpz G A 1: 171,158,811 R98H probably damaging Het
Naa16 T C 14: 79,369,082 E337G probably benign Het
Odam G A 5: 87,892,476 probably benign Het
Olfr397 T A 11: 73,965,034 L142H probably benign Het
Parp2 T C 14: 50,819,348 probably benign Het
Pcdh7 T G 5: 58,129,073 S1164A probably damaging Het
Pkp4 G T 2: 59,311,762 A470S probably benign Het
Plin4 A T 17: 56,105,417 M538K possibly damaging Het
Prex2 T C 1: 11,142,665 V624A probably damaging Het
Rps6ka5 A C 12: 100,615,991 probably null Het
Simc1 T C 13: 54,526,223 S795P probably benign Het
Slc35b4 A T 6: 34,160,471 probably null Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Syt14 T C 1: 192,933,220 N486S probably benign Het
Trim59 T C 3: 69,036,873 N378S probably benign Het
Wdr17 T A 8: 54,651,314 D908V probably damaging Het
Wdr74 A G 19: 8,739,511 probably benign Het
Wisp1 T A 15: 66,906,550 C73* probably null Het
Other mutations in Gpr39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Gpr39 APN 1 125872731 missense probably benign 0.00
IGL01593:Gpr39 APN 1 125677451 missense probably benign 0.00
R0110:Gpr39 UTSW 1 125677500 missense probably damaging 1.00
R0469:Gpr39 UTSW 1 125677500 missense probably damaging 1.00
R1438:Gpr39 UTSW 1 125872356 utr 3 prime probably benign
R1543:Gpr39 UTSW 1 125872424 missense probably damaging 0.97
R1762:Gpr39 UTSW 1 125872549 missense possibly damaging 0.93
R2105:Gpr39 UTSW 1 125677884 missense possibly damaging 0.95
R2291:Gpr39 UTSW 1 125677541 missense probably benign 0.13
R3708:Gpr39 UTSW 1 125872612 missense probably damaging 1.00
R4281:Gpr39 UTSW 1 125677991 missense probably benign 0.34
R4502:Gpr39 UTSW 1 125677991 missense probably benign 0.34
R4503:Gpr39 UTSW 1 125677991 missense probably benign 0.34
R4547:Gpr39 UTSW 1 125677991 missense probably benign 0.34
R4548:Gpr39 UTSW 1 125677991 missense probably benign 0.34
R5198:Gpr39 UTSW 1 125677436 missense probably benign
R6148:Gpr39 UTSW 1 125872586 missense probably damaging 1.00
R7059:Gpr39 UTSW 1 125677959 missense probably damaging 1.00
R7083:Gpr39 UTSW 1 125677418 missense probably damaging 0.99
R7147:Gpr39 UTSW 1 125872501 missense possibly damaging 0.91
R7761:Gpr39 UTSW 1 125677512 missense probably damaging 0.99
R7772:Gpr39 UTSW 1 125677597 missense possibly damaging 0.83
Posted On2016-08-02