Incidental Mutation 'IGL02054:Pth2r'
ID185173
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 #IGL02054
Quality Score
Status
Chromosome1
Chromosomal Location65282056-65389244 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 65336781 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 66 (I66N)
Ref Sequence ENSEMBL: ENSMUSP00000114594 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027083] [ENSMUST00000140190]
Predicted Effect probably damaging
Transcript: ENSMUST00000027083
AA Change: I71N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027083
Gene: ENSMUSG00000025946
AA Change: I71N

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
Predicted Effect probably damaging
Transcript: ENSMUST00000140190
AA Change: I66N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114594
Gene: ENSMUSG00000025946
AA Change: I66N

DomainStartEndE-ValueType
HormR 54 129 8.15e-28 SMART
Pfam:7tm_2 134 174 1.1e-13 PFAM
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G T 11: 110,292,123 P1036Q probably damaging Het
Bag4 T C 8: 25,771,225 S163G probably benign Het
Camkk1 G A 11: 73,025,882 R102Q probably damaging Het
Caprin1 A C 2: 103,771,798 probably null Het
Cct8 A T 16: 87,490,476 probably benign Het
Dlgap2 A G 8: 14,843,552 M941V probably damaging Het
Dock7 C T 4: 98,973,409 R1327Q probably damaging Het
Fam160a2 A G 7: 105,384,423 S529P probably damaging Het
Gbp9 T C 5: 105,082,807 D417G probably benign Het
Gemin2 G A 12: 59,021,737 probably null Het
Grk6 G T 13: 55,454,397 A346S probably benign Het
Gtf2h1 A G 7: 46,815,425 probably benign Het
Irak3 T A 10: 120,176,259 Q200L probably benign Het
Irx4 A G 13: 73,268,828 T448A probably damaging Het
Iws1 T C 18: 32,090,542 probably null Het
Kcnk18 G A 19: 59,235,613 probably benign Het
Klk1b11 C A 7: 43,998,827 S86Y possibly damaging Het
Lgals7 T C 7: 28,866,189 F136S probably damaging Het
Luc7l T A 17: 26,279,340 probably benign Het
Mta2 T A 19: 8,950,912 V525E probably benign Het
Mtnr1b G T 9: 15,874,240 A74E possibly damaging Het
Myo1c A G 11: 75,661,136 T354A probably benign Het
Nat1 T C 8: 67,491,422 F153S probably damaging Het
Oasl2 T C 5: 114,897,806 C48R probably damaging Het
Olfr1313 T G 2: 112,071,924 I220L probably benign Het
Pkm C A 9: 59,678,201 R489S probably damaging Het
Slc25a18 T C 6: 120,792,397 probably null Het
Tnip3 T C 6: 65,590,611 S2P possibly damaging Het
Vmn2r61 T C 7: 42,276,734 probably null Het
Other mutations in Pth2r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01333:Pth2r APN 1 65388725 missense probably benign 0.08
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 missense not run
Z1176:Pth2r UTSW 1 65363308 missense not run
Posted On2014-05-07