Incidental Mutation 'R6682:Pth1r'
ID 527548
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 044801-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6682 (G1)
Quality Score 122.008
Status Not validated
Chromosome 9
Chromosomal Location 110551153-110576213 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 110556319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143298 (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 benign
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 benign
Transcript: ENSMUST00000199862
SMART Domains Protein: ENSMUSP00000142672
Gene: ENSMUSG00000032492

DomainStartEndE-ValueType
HormR 98 173 7.8e-28 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
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 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aspm T C 1: 139,385,460 (GRCm39) V368A possibly damaging Het
Bcl9l A G 9: 44,412,400 (GRCm39) T92A possibly damaging Het
Celsr2 A T 3: 108,307,817 (GRCm39) probably null Het
Cndp2 T C 18: 84,695,455 (GRCm39) K149E probably benign Het
Cnpy4 T C 5: 138,185,984 (GRCm39) probably null Het
Cox6c A T 15: 35,938,319 (GRCm39) probably null Het
Cpt2 G T 4: 107,761,627 (GRCm39) S158R probably damaging Het
Dlgap1 A G 17: 71,094,118 (GRCm39) K813R probably damaging Het
Dock10 A C 1: 80,490,338 (GRCm39) L1927R probably damaging Het
Gak T A 5: 108,746,742 (GRCm39) K430I probably damaging Het
Grik3 T A 4: 125,544,259 (GRCm39) Y327N probably damaging Het
Ldb3 T A 14: 34,274,221 (GRCm39) T334S possibly damaging Het
Ldlr A G 9: 21,643,671 (GRCm39) D85G probably benign Het
Med26 T A 8: 73,249,927 (GRCm39) T391S probably benign Het
Mmp27 A G 9: 7,573,606 (GRCm39) T233A probably benign Het
Mob1a A G 6: 83,311,132 (GRCm39) Y117C possibly damaging Het
Mrps35 A T 6: 146,949,777 (GRCm39) E97V possibly damaging Het
Msln A T 17: 25,971,993 (GRCm39) S75T probably damaging Het
Myoz1 C T 14: 20,703,687 (GRCm39) probably null Het
Nim1k A G 13: 120,173,724 (GRCm39) I390T probably benign Het
Or10k2 A G 8: 84,268,187 (GRCm39) H138R probably benign Het
Or4k51 C T 2: 111,584,980 (GRCm39) P129S probably damaging Het
Pclo A C 5: 14,589,893 (GRCm39) Q731P unknown Het
Prl3d3 G A 13: 27,345,023 (GRCm39) E132K probably benign Het
Ptpru T C 4: 131,548,093 (GRCm39) M135V probably benign Het
Slc12a9 A T 5: 137,325,663 (GRCm39) L316Q probably damaging Het
Slc35f6 G A 5: 30,814,764 (GRCm39) M177I possibly damaging Het
Smc4 T A 3: 68,914,574 (GRCm39) S62R probably damaging Het
Tmem179 C T 12: 112,469,714 (GRCm39) D29N probably benign Het
Togaram2 A T 17: 72,011,749 (GRCm39) D476V probably benign Het
Trpc4ap C T 2: 155,479,687 (GRCm39) probably null Het
Trpm8 C A 1: 88,254,224 (GRCm39) T149K probably damaging Het
Uhmk1 C T 1: 170,039,804 (GRCm39) probably null Het
Vmn2r79 C A 7: 86,653,370 (GRCm39) T545K possibly damaging Het
Vmn2r95 C A 17: 18,660,489 (GRCm39) N300K probably damaging Het
Wdr41 G A 13: 95,149,639 (GRCm39) G419D probably damaging Het
Zc3hav1 A T 6: 38,302,130 (GRCm39) H597Q probably benign Het
Zfp704 T C 3: 9,630,253 (GRCm39) E36G probably benign Het
Zfp9 A G 6: 118,444,202 (GRCm39) V47A possibly damaging 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
R0070:Pth1r UTSW 9 110,556,618 (GRCm39) splice site probably null
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
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 PCR Primer
(F):5'- TAGAGCACAGCGTCCTTCAC -3'
(R):5'- GGGATATTCCATGTCTCTTGCC -3'

Sequencing Primer
(F):5'- GTCCTTCACGAAGATGCTCG -3'
(R):5'- CGTGGCTGTGCTCATCCTAG -3'
Posted On 2018-07-23