Incidental Mutation 'R0070:Pth1r'
ID 262068
Institutional Source Beutler Lab
Gene Symbol Pth1r
Ensembl Gene ENSMUSG00000032492
Gene Name parathyroid hormone 1 receptor
Synonyms PTH/PTHrP receptor, PTH-related peptide receptor, PTH1R, PPR, Pthr1
MMRRC Submission 038361-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0070 (G1)
Quality Score 160
Status Not validated
Chromosome 9
Chromosomal Location 110551153-110576213 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 110556618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006005] [ENSMUST00000166716] [ENSMUST00000196057] [ENSMUST00000198865] [ENSMUST00000199791] [ENSMUST00000199862]
AlphaFold P41593
Predicted Effect probably null
Transcript: ENSMUST00000006005
SMART Domains Protein: ENSMUSP00000006005
Gene: ENSMUSG00000032492

DomainStartEndE-ValueType
HormR 104 179 1.28e-25 SMART
Pfam:7tm_2 184 455 3.5e-89 PFAM
low complexity region 509 525 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000166716
SMART Domains Protein: ENSMUSP00000132064
Gene: ENSMUSG00000032492

DomainStartEndE-ValueType
HormR 104 179 1.28e-25 SMART
Pfam:7tm_2 184 455 9.2e-89 PFAM
low complexity region 509 525 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000196057
SMART Domains Protein: ENSMUSP00000143470
Gene: ENSMUSG00000032492

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
HormR 104 179 7.8e-28 SMART
Predicted Effect probably null
Transcript: ENSMUST00000198865
SMART Domains Protein: ENSMUSP00000143298
Gene: ENSMUSG00000032492

DomainStartEndE-ValueType
HormR 104 179 1.28e-25 SMART
Pfam:7tm_2 184 455 3.5e-89 PFAM
low complexity region 509 525 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199791
SMART Domains Protein: ENSMUSP00000142957
Gene: ENSMUSG00000032492

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000199862
SMART Domains Protein: ENSMUSP00000142672
Gene: ENSMUSG00000032492

DomainStartEndE-ValueType
HormR 98 173 7.8e-28 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (68/70)
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 family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutant mice die in mid-gestation or shortly after birth depending on genetic background, are small in size, have short limbs, and accelerated differentiation of chondrocytes resulting in accelerated bone mineralization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 T C 17: 56,109,154 (GRCm39) I387T probably damaging Het
Alpi A G 1: 87,028,881 (GRCm39) probably benign Het
Ankfn1 A T 11: 89,283,128 (GRCm39) L173Q probably damaging Het
Atp2a1 T C 7: 126,046,624 (GRCm39) E892G probably benign Het
AU018091 T C 7: 3,208,738 (GRCm39) probably null Het
Capn12 T C 7: 28,588,551 (GRCm39) probably benign Het
Capn2 C A 1: 182,301,434 (GRCm39) probably benign Het
Cd79b A G 11: 106,202,744 (GRCm39) probably benign Het
Cdh20 C T 1: 110,026,102 (GRCm39) A446V probably benign Het
Ciapin1 T C 8: 95,551,847 (GRCm39) N246S possibly damaging Het
Cmip T A 8: 118,153,293 (GRCm39) I270N probably damaging Het
Cyp2d40 A G 15: 82,644,975 (GRCm39) V225A unknown Het
Dnah9 A G 11: 66,050,866 (GRCm39) V142A probably benign Het
Dnai4 A T 4: 102,917,131 (GRCm39) I571K probably damaging Het
Flt3 A G 5: 147,309,536 (GRCm39) probably benign Het
Gm10238 A G 15: 75,109,434 (GRCm39) noncoding transcript Het
Gm4787 T A 12: 81,425,840 (GRCm39) D106V probably damaging Het
Hipk2 G A 6: 38,795,919 (GRCm39) R117* probably null Het
Hycc1 T C 5: 24,169,997 (GRCm39) S451G probably damaging Het
Ifna11 A G 4: 88,738,512 (GRCm39) D106G possibly damaging Het
Igkv1-115 G A 6: 68,138,402 (GRCm39) V2I probably benign Het
Itga6 T C 2: 71,657,060 (GRCm39) probably benign Het
Kcnj6 C A 16: 94,742,056 (GRCm39) K5N probably benign Het
Kcnt1 T C 2: 25,782,374 (GRCm39) V191A probably benign Het
Lcorl G A 5: 45,891,043 (GRCm39) R437C probably damaging Het
Man2a1 G A 17: 64,966,074 (GRCm39) probably null Het
Map3k14 T A 11: 103,130,380 (GRCm39) probably null Het
Mtch1 T A 17: 29,559,033 (GRCm39) probably benign Het
Myo1c A G 11: 75,551,076 (GRCm39) N217S probably benign Het
Or2h15 A G 17: 38,441,780 (GRCm39) L101P probably damaging Het
Or2w4 T C 13: 21,795,431 (GRCm39) K236R possibly damaging Het
Orm3 A G 4: 63,274,883 (GRCm39) T64A probably benign Het
Phf20l1 T G 15: 66,511,840 (GRCm39) W940G probably damaging Het
Phldb1 C T 9: 44,619,201 (GRCm39) R844H probably damaging Het
Piezo2 T C 18: 63,235,155 (GRCm39) D814G probably damaging Het
Pkd2 T C 5: 104,614,856 (GRCm39) C233R probably damaging Het
Prkd3 A G 17: 79,261,939 (GRCm39) Y792H probably damaging Het
Pxdn T C 12: 30,032,726 (GRCm39) L146S probably damaging Het
Rnf32 A G 5: 29,430,125 (GRCm39) T315A probably benign Het
Rpl5 T C 5: 108,049,766 (GRCm39) Y12H probably benign Het
Serpinh1 A T 7: 98,998,521 (GRCm39) S36R probably damaging Het
Setx A T 2: 29,051,537 (GRCm39) T2030S probably benign Het
Sf3a3 G A 4: 124,608,748 (GRCm39) V21I probably benign Het
Sin3b T A 8: 73,452,210 (GRCm39) H105Q probably damaging Het
Slitrk1 T C 14: 109,150,749 (GRCm39) probably benign Het
Slx4 A T 16: 3,805,880 (GRCm39) D557E possibly damaging Het
Sprr3 C T 3: 92,364,609 (GRCm39) M78I probably benign Het
Ssmem1 A G 6: 30,519,420 (GRCm39) E35G possibly damaging Het
Stag1 C T 9: 100,838,461 (GRCm39) P1238S probably null Het
Stra6 C T 9: 58,059,898 (GRCm39) probably benign Het
Tmem127 T C 2: 127,098,979 (GRCm39) V171A probably damaging Het
Tmem150a A G 6: 72,335,742 (GRCm39) probably null Het
Top2a C G 11: 98,905,886 (GRCm39) probably null Het
Ttn T C 2: 76,644,771 (GRCm39) probably null Het
Tusc3 G A 8: 39,530,421 (GRCm39) G129R possibly damaging Het
Uspl1 A G 5: 149,146,515 (GRCm39) Y422C probably damaging Het
Vmn2r88 A T 14: 51,651,597 (GRCm39) T312S probably benign Het
Zc3hav1l A T 6: 38,272,125 (GRCm39) S215T probably damaging Het
Zfp947 T A 17: 22,365,165 (GRCm39) T170S probably benign Het
Other mutations in Pth1r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Pth1r APN 9 110,556,198 (GRCm39) missense probably damaging 0.99
IGL01682:Pth1r APN 9 110,552,774 (GRCm39) splice site probably null
IGL02004:Pth1r APN 9 110,571,376 (GRCm39) intron probably benign
IGL02169:Pth1r APN 9 110,553,503 (GRCm39) missense probably damaging 1.00
IGL02548:Pth1r APN 9 110,556,748 (GRCm39) missense probably damaging 1.00
IGL03201:Pth1r APN 9 110,551,648 (GRCm39) missense probably damaging 1.00
R0881:Pth1r UTSW 9 110,560,641 (GRCm39) missense probably damaging 1.00
R1022:Pth1r UTSW 9 110,571,295 (GRCm39) missense probably damaging 0.96
R1022:Pth1r UTSW 9 110,558,689 (GRCm39) missense probably benign 0.01
R1024:Pth1r UTSW 9 110,571,295 (GRCm39) missense probably damaging 0.96
R1024:Pth1r UTSW 9 110,558,689 (GRCm39) missense probably benign 0.01
R2071:Pth1r UTSW 9 110,556,081 (GRCm39) missense probably benign 0.34
R2197:Pth1r UTSW 9 110,556,058 (GRCm39) unclassified probably benign
R2206:Pth1r UTSW 9 110,552,655 (GRCm39) missense probably damaging 1.00
R4184:Pth1r UTSW 9 110,571,300 (GRCm39) start codon destroyed probably null
R4590:Pth1r UTSW 9 110,551,339 (GRCm39) missense probably benign 0.04
R4638:Pth1r UTSW 9 110,556,141 (GRCm39) missense possibly damaging 0.60
R4693:Pth1r UTSW 9 110,560,692 (GRCm39) missense probably damaging 1.00
R5457:Pth1r UTSW 9 110,555,522 (GRCm39) missense possibly damaging 0.88
R6235:Pth1r UTSW 9 110,551,384 (GRCm39) missense possibly damaging 0.64
R6682:Pth1r UTSW 9 110,556,319 (GRCm39) splice site probably null
R6683:Pth1r UTSW 9 110,556,319 (GRCm39) splice site probably null
R6914:Pth1r UTSW 9 110,557,084 (GRCm39) splice site probably null
R6942:Pth1r UTSW 9 110,557,084 (GRCm39) splice site probably null
R7164:Pth1r UTSW 9 110,552,815 (GRCm39) missense possibly damaging 0.66
R7638:Pth1r UTSW 9 110,551,461 (GRCm39) missense probably benign
R7883:Pth1r UTSW 9 110,560,626 (GRCm39) missense probably benign 0.02
R8966:Pth1r UTSW 9 110,554,229 (GRCm39) missense possibly damaging 0.79
R9168:Pth1r UTSW 9 110,556,204 (GRCm39) missense probably benign 0.31
R9585:Pth1r UTSW 9 110,573,847 (GRCm39) missense probably benign 0.00
R9773:Pth1r UTSW 9 110,556,233 (GRCm39) missense possibly damaging 0.89
Predicted Primers
Posted On 2015-02-04