Incidental Mutation 'R2232:Pth2r'
ID 240074
Institutional Source Beutler Lab
Gene Symbol Pth2r
Ensembl Gene ENSMUSG00000025946
Gene Name parathyroid hormone 2 receptor
Synonyms Pthr2
MMRRC Submission 040233-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2232 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 65321215-65428403 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 65375928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 62 (W62L)
Ref Sequence ENSEMBL: ENSMUSP00000114594 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027083] [ENSMUST00000140190]
AlphaFold Q91V95
Predicted Effect probably damaging
Transcript: ENSMUST00000027083
AA Change: W67L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027083
Gene: ENSMUSG00000025946
AA Change: W67L

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: W62L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114594
Gene: ENSMUSG00000025946
AA Change: W62L

DomainStartEndE-ValueType
HormR 54 129 8.15e-28 SMART
Pfam:7tm_2 134 174 1.1e-13 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a A C 5: 121,657,795 (GRCm39) D499E possibly damaging Het
Adamtsl2 G A 2: 26,993,190 (GRCm39) G740E probably damaging Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Akap9 G A 5: 4,096,603 (GRCm39) V2493I probably damaging Het
Ankra2 T C 13: 98,407,646 (GRCm39) F199L probably damaging Het
Ankrd63 A G 2: 118,533,846 (GRCm39) probably benign Het
Asns A G 6: 7,689,316 (GRCm39) I62T possibly damaging Het
Celf3 T A 3: 94,387,566 (GRCm39) probably null Het
Cyp4f37 A G 17: 32,853,244 (GRCm39) T403A probably benign Het
Dennd2b T C 7: 109,156,414 (GRCm39) D112G probably benign Het
Dgkd T A 1: 87,857,464 (GRCm39) S725R probably benign Het
Dnah5 G A 15: 28,408,563 (GRCm39) probably null Het
Entrep2 G A 7: 64,408,970 (GRCm39) H475Y probably damaging Het
Ergic3 A G 2: 155,859,736 (GRCm39) T346A probably damaging Het
Fam227a T A 15: 79,499,582 (GRCm39) Y591F possibly damaging Het
Gal3st1 T C 11: 3,948,282 (GRCm39) I163T probably benign Het
Ghrhr T C 6: 55,362,444 (GRCm39) F347S probably damaging Het
Htr2a A T 14: 74,882,469 (GRCm39) I152F probably damaging Het
Il17re T C 6: 113,441,761 (GRCm39) C219R probably damaging Het
Kansl2 A G 15: 98,422,359 (GRCm39) L403S probably damaging Het
Kif21a G A 15: 90,869,565 (GRCm39) Q429* probably null Het
L1cam T A X: 72,904,947 (GRCm39) N503I possibly damaging Het
Lrrk2 A G 15: 91,648,919 (GRCm39) K1638E probably benign Het
Mcpt9 A T 14: 56,265,445 (GRCm39) C85S probably benign Het
Mindy3 C A 2: 12,408,856 (GRCm39) R73M probably benign Het
Mrgprb3 T C 7: 48,292,770 (GRCm39) I260M probably benign Het
Nes T A 3: 87,886,238 (GRCm39) I1499N possibly damaging Het
Ninl A G 2: 150,791,970 (GRCm39) V851A probably benign Het
Oaz3 T C 3: 94,341,846 (GRCm39) T130A probably benign Het
Or10j7 A G 1: 173,011,182 (GRCm39) I273T probably benign Het
Or4c3d A T 2: 89,882,569 (GRCm39) F33Y probably benign Het
Pacs2 G A 12: 113,026,987 (GRCm39) D605N probably damaging Het
Pcare A G 17: 72,056,279 (GRCm39) S1133P probably benign Het
Pdk3 G T X: 92,857,604 (GRCm39) N59K probably damaging Het
Pigq T C 17: 26,151,183 (GRCm39) H322R probably benign Het
Ppp3r1 G A 11: 17,143,115 (GRCm39) G68R probably damaging Het
Proz A G 8: 13,113,356 (GRCm39) Y59C probably damaging Het
Prpf39 C T 12: 65,090,786 (GRCm39) R32* probably null Het
Prr5 T C 15: 84,586,981 (GRCm39) S244P probably benign Het
Scin T A 12: 40,118,930 (GRCm39) K622I probably damaging Het
Serpinb6a T C 13: 34,109,303 (GRCm39) K143R probably damaging Het
Ska1 G T 18: 74,330,137 (GRCm39) probably null Het
Slc30a8 G T 15: 52,169,960 (GRCm39) R62S probably benign Het
Slc8a3 A C 12: 81,361,994 (GRCm39) I275S probably damaging Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Spmap2l A G 5: 77,207,252 (GRCm39) I337V possibly damaging Het
Sspo A G 6: 48,425,606 (GRCm39) I76V probably damaging Het
Sult1c2 G T 17: 54,138,848 (GRCm39) T243K probably benign Het
Svil T A 18: 5,046,640 (GRCm39) M1K probably null Het
Tet3 T C 6: 83,346,453 (GRCm39) D1328G probably damaging Het
Tnfsf14 T C 17: 57,500,876 (GRCm39) D65G probably benign Het
Trmt9b T A 8: 36,979,707 (GRCm39) C437S probably damaging Het
Ttc3 T C 16: 94,260,831 (GRCm39) S1439P probably benign Het
Ttn A T 2: 76,774,497 (GRCm39) F2136L probably damaging Het
Usb1 T G 8: 96,070,674 (GRCm39) L200R probably damaging Het
Usp20 A G 2: 30,908,750 (GRCm39) N777S probably benign Het
Zfp92 G T X: 72,466,358 (GRCm39) L450F possibly damaging Het
Other mutations in Pth2r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01333:Pth2r APN 1 65,427,884 (GRCm39) missense probably benign 0.08
IGL02054:Pth2r APN 1 65,375,940 (GRCm39) missense probably damaging 1.00
IGL02429:Pth2r APN 1 65,385,998 (GRCm39) missense probably benign 0.05
R0277:Pth2r UTSW 1 65,427,775 (GRCm39) missense probably benign
R0323:Pth2r UTSW 1 65,427,775 (GRCm39) missense probably benign
R0415:Pth2r UTSW 1 65,427,598 (GRCm39) missense probably benign
R1067:Pth2r UTSW 1 65,411,507 (GRCm39) missense possibly damaging 0.92
R1463:Pth2r UTSW 1 65,402,436 (GRCm39) missense probably damaging 0.96
R1566:Pth2r UTSW 1 65,427,697 (GRCm39) missense possibly damaging 0.50
R1690:Pth2r UTSW 1 65,411,462 (GRCm39) missense probably benign 0.02
R1710:Pth2r UTSW 1 65,375,997 (GRCm39) missense possibly damaging 0.48
R1957:Pth2r UTSW 1 65,411,514 (GRCm39) missense probably damaging 1.00
R2062:Pth2r UTSW 1 65,382,721 (GRCm39) missense probably damaging 1.00
R2942:Pth2r UTSW 1 65,427,635 (GRCm39) missense probably benign 0.00
R3011:Pth2r UTSW 1 65,376,147 (GRCm39) missense probably benign 0.05
R3857:Pth2r UTSW 1 65,361,206 (GRCm39) missense probably damaging 0.98
R3858:Pth2r UTSW 1 65,361,206 (GRCm39) missense probably damaging 0.98
R3859:Pth2r UTSW 1 65,361,206 (GRCm39) missense probably damaging 0.98
R4540:Pth2r UTSW 1 65,321,360 (GRCm39) missense probably benign
R4694:Pth2r UTSW 1 65,375,920 (GRCm39) missense probably benign
R4777:Pth2r UTSW 1 65,427,676 (GRCm39) missense possibly damaging 0.90
R4926:Pth2r UTSW 1 65,361,143 (GRCm39) missense probably benign 0.27
R5209:Pth2r UTSW 1 65,427,856 (GRCm39) missense probably benign 0.04
R5871:Pth2r UTSW 1 65,427,796 (GRCm39) missense probably damaging 1.00
R6868:Pth2r UTSW 1 65,427,638 (GRCm39) missense probably benign 0.02
R7132:Pth2r UTSW 1 65,361,225 (GRCm39) missense probably benign 0.00
R7242:Pth2r UTSW 1 65,427,779 (GRCm39) missense probably benign 0.42
R7677:Pth2r UTSW 1 65,427,605 (GRCm39) missense probably benign 0.00
R7836:Pth2r UTSW 1 65,390,722 (GRCm39) missense probably damaging 1.00
R8061:Pth2r UTSW 1 65,382,660 (GRCm39) missense possibly damaging 0.64
Z1176:Pth2r UTSW 1 65,402,467 (GRCm39) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- CCTACAAAGTGACTAAGCAGGTG -3'
(R):5'- TCACTGAGGTTGCAAGTTCCC -3'

Sequencing Primer
(F):5'- TACAAAGTGACTAAGCAGGTGATTTG -3'
(R):5'- GGTTGCAAGTTCCCCCACAAG -3'
Posted On 2014-10-15