Incidental Mutation 'IGL02169:Pth1r'
ID 282818
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 # IGL02169
Quality Score
Status
Chromosome 9
Chromosomal Location 110722085-110747145 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 110724435 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 392 (T392I)
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: T392I

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000006005
Gene: ENSMUSG00000032492
AA Change: T392I

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: T392I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132064
Gene: ENSMUSG00000032492
AA Change: T392I

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: T392I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143298
Gene: ENSMUSG00000032492
AA Change: T392I

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,952,582 I1001F probably damaging Het
Amfr A T 8: 94,005,230 probably null Het
Apol7c T G 15: 77,526,416 D110A possibly damaging Het
Bcr A G 10: 75,159,882 N899S probably benign Het
Ccnt2 T A 1: 127,774,389 probably benign Het
Clptm1l G A 13: 73,611,663 V281I probably damaging Het
Ctsr A G 13: 61,163,240 probably benign Het
Dbh G A 2: 27,174,898 V374M probably damaging Het
Eif3b A G 5: 140,430,081 D385G possibly damaging Het
F830045P16Rik A G 2: 129,463,572 V294A probably damaging Het
Foxj2 A G 6: 122,828,466 N99S probably damaging Het
Gabrr1 T G 4: 33,160,261 V315G probably damaging Het
Gm21988 T C 11: 70,238,938 E25G probably benign Het
Islr A T 9: 58,158,132 F31I possibly damaging Het
L2hgdh A T 12: 69,721,397 L109Q probably damaging Het
Lrp6 A G 6: 134,513,327 I96T probably damaging Het
Nup93 A G 8: 94,302,129 D330G probably damaging Het
Olfr1080 T C 2: 86,553,882 M81V probably benign Het
Olfr703 T A 7: 106,845,266 Y218* probably null Het
Phtf1 C A 3: 103,997,499 L488I probably benign Het
Plac8l1 T C 18: 42,178,943 D137G probably damaging Het
Rab43 A G 6: 87,811,424 F41L probably damaging Het
Ralgapb C T 2: 158,426,204 L76F probably damaging Het
Ros1 A G 10: 52,081,957 probably null Het
Rpl27a T C 7: 109,519,978 I43T probably benign Het
Set G A 2: 30,069,524 D129N possibly damaging Het
Sorbs2 A T 8: 45,823,749 Y604F probably damaging Het
Tg T C 15: 66,757,943 V491A probably benign Het
Txlna T C 4: 129,629,613 T429A probably damaging Het
Vmn1r128 C T 7: 21,350,238 P289L probably damaging Het
Wfs1 A G 5: 36,968,479 F356S probably damaging Het
Zfp687 G A 3: 95,011,432 T343I probably damaging Het
Zfp935 A G 13: 62,456,931 probably null 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
IGL02548:Pth1r APN 9 110727680 missense probably damaging 1.00
IGL03201:Pth1r APN 9 110722580 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 2015-04-16