Incidental Mutation 'IGL03201:Pth1r'
ID 412997
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pth1r
Ensembl Gene ENSMUSG00000032492
Gene Name parathyroid hormone 1 receptor
Synonyms PTH-related peptide receptor, PPR, PTH1R, Pthr1, PTH/PTHrP receptor
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL03201
Quality Score
Status
Chromosome 9
Chromosomal Location 110722085-110747145 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110722580 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 484 (K484E)
Ref Sequence ENSEMBL: ENSMUSP00000143298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006005] [ENSMUST00000166716] [ENSMUST00000196057] [ENSMUST00000198865] [ENSMUST00000199862]
AlphaFold P41593
Predicted Effect possibly damaging
Transcript: ENSMUST00000006005
AA Change: K484E

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000006005
Gene: ENSMUSG00000032492
AA Change: K484E

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: K484E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132064
Gene: ENSMUSG00000032492
AA Change: K484E

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 damaging
Transcript: ENSMUST00000198865
AA Change: K484E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143298
Gene: ENSMUSG00000032492
AA Change: K484E

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: ENSMUST00000199862
SMART Domains Protein: ENSMUSP00000142672
Gene: ENSMUSG00000032492

DomainStartEndE-ValueType
HormR 98 173 7.8e-28 SMART
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 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,228,267 E105G probably damaging Het
Apc A G 18: 34,312,376 D757G probably damaging Het
Arpc3 A T 5: 122,401,718 I45F probably damaging Het
C3 C A 17: 57,222,249 V597L probably damaging Het
Ccdc181 A G 1: 164,280,644 N299D probably benign Het
Cdr1 T A X: 61,185,548 Q4L unknown Het
Cep170 G A 1: 176,736,888 S1464F probably damaging Het
Cfh A G 1: 140,102,819 Y826H probably damaging Het
Chic2 A G 5: 75,011,293 probably benign Het
Chrne T C 11: 70,618,512 H81R probably benign Het
Clec4e A G 6: 123,283,640 I153T probably benign Het
Col14a1 A T 15: 55,408,904 D699V unknown Het
Cul3 T G 1: 80,281,427 S379R probably damaging Het
Cyp3a11 T A 5: 145,860,379 I397F possibly damaging Het
Dnah1 T C 14: 31,300,949 K1077R probably benign Het
Dnajc18 A G 18: 35,680,919 S266P probably benign Het
Dydc1 T G 14: 41,078,690 L74R probably damaging Het
Echdc2 G T 4: 108,169,870 A71S possibly damaging Het
Fer1l4 T A 2: 156,044,730 D693V probably benign Het
Fscn3 T C 6: 28,430,605 V258A probably benign Het
Herc2 T A 7: 56,219,768 I4255N probably damaging Het
Il1rl2 A G 1: 40,343,040 I171V possibly damaging Het
Ino80d G T 1: 63,058,308 T809K probably damaging Het
Lama2 A T 10: 27,344,570 L433* probably null Het
Nlrp9c A T 7: 26,385,108 S349T probably benign Het
Parp11 T C 6: 127,490,018 I124T possibly damaging Het
Parp8 A T 13: 116,863,069 probably benign Het
Pgm2 T C 4: 99,970,039 F379L probably damaging Het
Phf21b T C 15: 84,787,247 H482R probably benign Het
Phka1 A C X: 102,541,110 probably null Het
Plekhh1 T C 12: 79,053,656 W133R probably damaging Het
Polr2a A C 11: 69,745,690 L405* probably null Het
Prrg3 T A X: 71,966,502 V3E probably damaging Het
Rcbtb1 T C 14: 59,223,278 L230P probably damaging Het
Slc51a G A 16: 32,478,750 R110C probably damaging Het
Ssbp2 T C 13: 91,524,601 Y27H probably damaging Het
Sult2a4 A G 7: 13,931,767 V157A probably damaging Het
Tbx15 G A 3: 99,351,980 S389N probably benign Het
Ttn T G 2: 76,841,080 probably benign Het
Ube2n T C 10: 95,542,265 probably benign Het
Wdr95 G A 5: 149,581,887 probably null Het
Wsb2 T C 5: 117,376,555 S298P possibly damaging Het
Zc3h7a T C 16: 11,156,302 probably null Het
Zfat A G 15: 68,165,909 C906R probably damaging Het
Zfp747 G A 7: 127,374,008 T330I probably damaging Het
Zfp949 A G 9: 88,568,664 R96G probably benign Het
Other mutations in Pth1r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Pth1r APN 9 110727130 missense probably damaging 0.99
IGL01682:Pth1r APN 9 110723706 splice site probably null
IGL02004:Pth1r APN 9 110742308 intron probably benign
IGL02169:Pth1r APN 9 110724435 missense probably damaging 1.00
IGL02548:Pth1r APN 9 110727680 missense probably damaging 1.00
R0070:Pth1r UTSW 9 110727550 splice site probably null
R0881:Pth1r UTSW 9 110731573 missense probably damaging 1.00
R1022:Pth1r UTSW 9 110729621 missense probably benign 0.01
R1022:Pth1r UTSW 9 110742227 missense probably damaging 0.96
R1024:Pth1r UTSW 9 110729621 missense probably benign 0.01
R1024:Pth1r UTSW 9 110742227 missense probably damaging 0.96
R2071:Pth1r UTSW 9 110727013 missense probably benign 0.34
R2197:Pth1r UTSW 9 110726990 unclassified probably benign
R2206:Pth1r UTSW 9 110723587 missense probably damaging 1.00
R4184:Pth1r UTSW 9 110742232 start codon destroyed probably null
R4590:Pth1r UTSW 9 110722271 missense probably benign 0.04
R4638:Pth1r UTSW 9 110727073 missense possibly damaging 0.60
R4693:Pth1r UTSW 9 110731624 missense probably damaging 1.00
R5457:Pth1r UTSW 9 110726454 missense possibly damaging 0.88
R6235:Pth1r UTSW 9 110722316 missense possibly damaging 0.64
R6682:Pth1r UTSW 9 110727251 splice site probably null
R6683:Pth1r UTSW 9 110727251 splice site probably null
R6914:Pth1r UTSW 9 110728016 splice site probably null
R6942:Pth1r UTSW 9 110728016 splice site probably null
R7164:Pth1r UTSW 9 110723747 missense possibly damaging 0.66
R7638:Pth1r UTSW 9 110722393 missense probably benign
R7883:Pth1r UTSW 9 110731558 missense probably benign 0.02
R8966:Pth1r UTSW 9 110725161 missense possibly damaging 0.79
R9168:Pth1r UTSW 9 110727136 missense probably benign 0.31
Posted On 2016-08-02