Incidental Mutation 'IGL01333:Pth2r'
ID74537
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pth2r
Ensembl Gene ENSMUSG00000025946
Gene Nameparathyroid hormone 2 receptor
SynonymsPthr2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01333
Quality Score
Status
Chromosome1
Chromosomal Location65282056-65389244 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 65388725 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 519 (D519V)
Ref Sequence ENSEMBL: ENSMUSP00000027083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027083]
Predicted Effect probably benign
Transcript: ENSMUST00000027083
AA Change: D519V

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000027083
Gene: ENSMUSG00000025946
AA Change: D519V

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
HormR 59 134 8.15e-28 SMART
Pfam:7tm_2 139 406 5.1e-81 PFAM
low complexity region 447 461 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.] The protein encoded by this gene is a member of the G-protein coupled receptor 2 family. This protein is a receptor for parathyroid hormone (PTH). This receptor is more selective in ligand recognition and has a more specific tissue distribution compared to parathyroid hormone receptor 1 (PTHR1). It is activated only by PTH and not by parathyroid hormone-like hormone (PTHLH) and is particularly abundant in brain and pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 G T 7: 120,382,308 C995F probably damaging Het
Adamts7 G T 9: 90,186,979 G525C probably damaging Het
AI481877 T C 4: 59,047,870 N1250D possibly damaging Het
Akap1 T C 11: 88,845,605 E110G probably damaging Het
Ankrd7 A G 6: 18,879,346 H263R probably damaging Het
Cav3 T C 6: 112,459,927 probably null Het
Ccdc66 T C 14: 27,493,315 R423G possibly damaging Het
Cep76 C T 18: 67,640,117 R37Q probably benign Het
Chfr A G 5: 110,143,573 K86E possibly damaging Het
Eif2b3 T A 4: 117,070,690 S369T probably benign Het
Hgf A T 5: 16,576,941 R221* probably null Het
Hspg2 T C 4: 137,540,314 Y2078H probably damaging Het
Kif22 A C 7: 127,034,195 V55G probably damaging Het
Mme T C 3: 63,346,091 I452T probably damaging Het
Mrpl41 T C 2: 24,974,441 N73S probably benign Het
Mup6 T C 4: 60,005,529 F112S probably damaging Het
Nktr A G 9: 121,731,564 I125V possibly damaging Het
Nup205 T C 6: 35,241,063 F1784L probably benign Het
Nwd1 A G 8: 72,666,811 D275G possibly damaging Het
Olfr1423 G A 19: 12,035,941 T267I probably benign Het
Olfr187 T C 16: 59,035,906 Y277C probably damaging Het
Pde6c G A 19: 38,175,695 E666K probably benign Het
Reln A T 5: 22,171,251 I169N probably damaging Het
Slc25a13 A G 6: 6,042,739 probably null Het
Smg1 A G 7: 118,163,378 probably benign Het
Sp1 A G 15: 102,430,929 E434G probably damaging Het
Stt3b A T 9: 115,257,544 Y336N probably damaging Het
Vmn2r104 T A 17: 20,042,793 R135S probably benign Het
Zfhx4 C T 3: 5,399,327 T1515I probably damaging Het
Zfp280d A G 9: 72,335,114 probably benign Het
Other mutations in Pth2r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02054:Pth2r APN 1 65336781 missense probably damaging 1.00
IGL02429:Pth2r APN 1 65346839 missense probably benign 0.05
R0277:Pth2r UTSW 1 65388616 missense probably benign
R0323:Pth2r UTSW 1 65388616 missense probably benign
R0415:Pth2r UTSW 1 65388439 missense probably benign
R1067:Pth2r UTSW 1 65372348 missense possibly damaging 0.92
R1463:Pth2r UTSW 1 65363277 missense probably damaging 0.96
R1566:Pth2r UTSW 1 65388538 missense possibly damaging 0.50
R1690:Pth2r UTSW 1 65372303 missense probably benign 0.02
R1710:Pth2r UTSW 1 65336838 missense possibly damaging 0.48
R1957:Pth2r UTSW 1 65372355 missense probably damaging 1.00
R2062:Pth2r UTSW 1 65343562 missense probably damaging 1.00
R2232:Pth2r UTSW 1 65336769 missense probably damaging 1.00
R2942:Pth2r UTSW 1 65388476 missense probably benign 0.00
R3011:Pth2r UTSW 1 65336988 missense probably benign 0.05
R3857:Pth2r UTSW 1 65322047 missense probably damaging 0.98
R3858:Pth2r UTSW 1 65322047 missense probably damaging 0.98
R3859:Pth2r UTSW 1 65322047 missense probably damaging 0.98
R4540:Pth2r UTSW 1 65282201 missense probably benign
R4694:Pth2r UTSW 1 65336761 missense probably benign
R4777:Pth2r UTSW 1 65388517 missense possibly damaging 0.90
R4926:Pth2r UTSW 1 65321984 missense probably benign 0.27
R5209:Pth2r UTSW 1 65388697 missense probably benign 0.04
R5871:Pth2r UTSW 1 65388637 missense probably damaging 1.00
R6868:Pth2r UTSW 1 65388479 missense probably benign 0.02
R7132:Pth2r UTSW 1 65322066 missense probably benign 0.00
R7242:Pth2r UTSW 1 65388620 missense probably benign 0.42
R7677:Pth2r UTSW 1 65388446 missense probably benign 0.00
R7836:Pth2r UTSW 1 65351563 missense probably damaging 1.00
R7919:Pth2r UTSW 1 65351563 missense probably damaging 1.00
R8061:Pth2r UTSW 1 65343501
Z1176:Pth2r UTSW 1 65363308
Posted On2013-10-07