Incidental Mutation 'R0881:Pth1r'
ID 80562
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 039048-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0881 (G1)
Quality Score 199
Status Validated
Chromosome 9
Chromosomal Location 110551153-110576213 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 110560641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 42 (C42Y)
Ref Sequence ENSEMBL: ENSMUSP00000142672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006005] [ENSMUST00000166716] [ENSMUST00000196057] [ENSMUST00000198865] [ENSMUST00000199791] [ENSMUST00000199862]
AlphaFold P41593
Predicted Effect probably damaging
Transcript: ENSMUST00000006005
AA Change: C48Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006005
Gene: ENSMUSG00000032492
AA Change: C48Y

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 damaging
Transcript: ENSMUST00000166716
AA Change: C48Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132064
Gene: ENSMUSG00000032492
AA Change: C48Y

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 damaging
Transcript: ENSMUST00000196057
AA Change: C48Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143470
Gene: ENSMUSG00000032492
AA Change: C48Y

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
HormR 104 179 7.8e-28 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000198865
AA Change: C48Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143298
Gene: ENSMUSG00000032492
AA Change: C48Y

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 damaging
Transcript: ENSMUST00000199862
AA Change: C42Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142672
Gene: ENSMUSG00000032492
AA Change: C42Y

DomainStartEndE-ValueType
HormR 98 173 7.8e-28 SMART
Meta Mutation Damage Score 0.4229 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 93.0%
Validation Efficiency 96% (51/53)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Abcc9 T A 6: 142,592,029 (GRCm39) I732F probably damaging Het
Adam10 T C 9: 70,653,519 (GRCm39) S248P probably damaging Het
Adam18 A T 8: 25,162,159 (GRCm39) probably benign Het
Angel2 G A 1: 190,669,661 (GRCm39) E114K probably damaging Het
Arhgap29 A G 3: 121,808,328 (GRCm39) T1169A probably damaging Het
Atp13a2 T A 4: 140,731,242 (GRCm39) M759K probably damaging Het
Atxn2l A G 7: 126,095,768 (GRCm39) S450P probably damaging Het
B3glct T A 5: 149,663,034 (GRCm39) V264E probably damaging Het
Bbx A G 16: 50,040,963 (GRCm39) probably benign Het
Bmp3 A G 5: 99,020,461 (GRCm39) N295D possibly damaging Het
C9 G A 15: 6,488,349 (GRCm39) probably benign Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cdan1 A T 2: 120,551,466 (GRCm39) V1039E probably damaging Het
Dennd4a T C 9: 64,758,665 (GRCm39) probably null Het
Ext1 A G 15: 53,207,879 (GRCm39) L294P probably benign Het
Fsip2 C A 2: 82,816,617 (GRCm39) H4117N possibly damaging Het
Itga8 C T 2: 12,267,003 (GRCm39) probably null Het
Itln1 G T 1: 171,360,949 (GRCm39) H48N probably benign Het
Kcna5 T A 6: 126,511,957 (GRCm39) H57L probably benign Het
Klhdc4 A T 8: 122,526,226 (GRCm39) Y304* probably null Het
Klhl25 A G 7: 75,516,027 (GRCm39) Y6C probably damaging Het
Lars1 C T 18: 42,347,851 (GRCm39) V991M probably benign Het
Med20 T C 17: 47,922,605 (GRCm39) M1T probably null Het
Mslnl A T 17: 25,961,939 (GRCm39) H138L possibly damaging Het
Mycbp2 T C 14: 103,457,449 (GRCm39) I1583V probably benign Het
Nipbl A C 15: 8,337,096 (GRCm39) V2093G probably damaging Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Opalin T C 19: 41,052,420 (GRCm39) probably null Het
Or1j12 T G 2: 36,343,452 (GRCm39) L285R probably damaging Het
Or51d1 T A 7: 102,348,291 (GRCm39) V282D possibly damaging Het
Or8g26 A G 9: 39,095,984 (GRCm39) K170R probably benign Het
Pgm2 A T 5: 64,250,351 (GRCm39) T9S unknown Het
Piwil2 A C 14: 70,646,376 (GRCm39) S387A probably benign Het
Polr1c T C 17: 46,555,539 (GRCm39) T240A possibly damaging Het
Polr3c A G 3: 96,631,163 (GRCm39) M118T probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rictor A T 15: 6,821,151 (GRCm39) M1492L probably benign Het
Rrbp1 T A 2: 143,795,173 (GRCm39) Y1277F probably benign Het
Scgb3a2 T G 18: 43,897,549 (GRCm39) probably benign Het
Skint1 G A 4: 111,886,054 (GRCm39) S327N probably benign Het
Steap4 A T 5: 8,030,388 (GRCm39) S415C probably benign Het
Tex48 A G 4: 63,530,228 (GRCm39) probably benign Het
Tox2 T A 2: 163,163,365 (GRCm39) S502T probably benign Het
Usp47 T A 7: 111,690,643 (GRCm39) I762K possibly damaging Het
Vmn2r53 T C 7: 12,334,859 (GRCm39) H267R probably benign Het
Wnt2b A G 3: 104,860,513 (GRCm39) probably benign Het
Xirp1 T C 9: 119,847,483 (GRCm39) N28D possibly damaging Het
Zeb1 T C 18: 5,767,138 (GRCm39) S550P 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
R0070:Pth1r UTSW 9 110,556,618 (GRCm39) splice site probably null
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 PCR Primer
(F):5'- ATCGCCTGAGCCTGTTGACTTCAC -3'
(R):5'- GGTTACTGCTGGACAGACAGACAAG -3'

Sequencing Primer
(F):5'- AGCCTGTTGACTTCACCCTTG -3'
(R):5'- GAGTTACCGTGGCTTCAAAC -3'
Posted On 2013-11-07