Incidental Mutation 'IGL01120:Pth1r'
ID 51957
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 # IGL01120
Quality Score
Status
Chromosome 9
Chromosomal Location 110722085-110747145 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110727130 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 225 (H225R)
Ref Sequence ENSEMBL: ENSMUSP00000143298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006005] [ENSMUST00000166716] [ENSMUST00000196057] [ENSMUST00000198865] [ENSMUST00000199791] [ENSMUST00000199862]
AlphaFold P41593
Predicted Effect possibly damaging
Transcript: ENSMUST00000006005
AA Change: H225R

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000006005
Gene: ENSMUSG00000032492
AA Change: H225R

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: H225R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132064
Gene: ENSMUSG00000032492
AA Change: H225R

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: H225R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143298
Gene: ENSMUSG00000032492
AA Change: H225R

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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210010C04Rik A T 6: 41,031,673 Y236N probably damaging Het
5830411N06Rik T C 7: 140,296,559 L648P probably benign Het
Abhd11 T A 5: 135,011,475 probably null Het
Armcx5 T C X: 135,746,363 I396T probably damaging Het
Atm T C 9: 53,461,122 probably null Het
Atp6v1c2 C T 12: 17,308,293 E88K probably damaging Het
Caskin1 A G 17: 24,505,369 T1044A possibly damaging Het
Ccdc155 G T 7: 45,184,198 S560Y probably damaging Het
Cyp3a59 T A 5: 146,102,861 S315T probably damaging Het
Dnaja1 T A 4: 40,730,248 I240N probably damaging Het
Dnttip2 C T 3: 122,278,737 probably benign Het
Elavl2 A T 4: 91,264,072 M136K probably damaging Het
Eml5 C T 12: 98,844,019 V893I probably benign Het
Fbxw4 G T 19: 45,640,516 A2E probably benign Het
Flg2 T G 3: 93,201,168 S168A probably damaging Het
Fndc3a G A 14: 72,556,662 T857I probably benign Het
Gria1 A G 11: 57,317,669 K797E probably damaging Het
Herc1 T C 9: 66,428,880 F1569S probably benign Het
Lrrc45 T C 11: 120,720,010 V524A probably benign Het
Myo19 T C 11: 84,907,278 L708P probably damaging Het
Nup107 A G 10: 117,770,241 probably benign Het
Olfr479 T G 7: 108,055,567 M195R probably damaging Het
Olfr651 T C 7: 104,553,345 V142A probably benign Het
Palm A G 10: 79,816,787 probably benign Het
Phf14 T C 6: 11,962,740 V462A probably damaging Het
Pkhd1l1 G A 15: 44,505,312 probably null Het
Pkp3 T A 7: 141,084,182 L424* probably null Het
Prss29 A G 17: 25,322,133 K184E probably benign Het
Ptcd1 C T 5: 145,152,243 probably benign Het
Rffl C T 11: 82,806,022 V332I probably damaging Het
Rsl1 T C 13: 67,177,166 probably benign Het
Scn9a T C 2: 66,526,972 K986R probably benign Het
Slc22a15 A G 3: 101,897,166 L181P probably damaging Het
Slc34a1 T A 13: 55,409,071 L241H probably damaging Het
Slc4a4 C A 5: 89,132,379 H354Q probably damaging Het
Sorcs2 T C 5: 36,021,252 E1131G probably damaging Het
Ssc4d C A 5: 135,967,963 D95Y probably damaging Het
Tcte1 A T 17: 45,539,668 D290V probably damaging Het
Thyn1 T A 9: 27,003,774 M74K probably benign Het
Tlr4 C T 4: 66,840,425 T485I probably benign Het
Trem1 A G 17: 48,237,249 T101A probably benign Het
Ttc17 T C 2: 94,371,796 E387G probably damaging Het
Vmn2r103 A T 17: 19,792,997 T127S probably benign Het
Other mutations in Pth1r
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-06-21