Incidental Mutation 'R4650:Pth'
ID 351221
Institutional Source Beutler Lab
Gene Symbol Pth
Ensembl Gene ENSMUSG00000059077
Gene Name parathyroid hormone
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4650 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 112984787-112987777 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to T at 112985026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Lysine at position 116 (*116K)
Ref Sequence ENSEMBL: ENSMUSP00000078723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079793]
AlphaFold Q9Z0L6
Predicted Effect probably null
Transcript: ENSMUST00000079793
AA Change: *116K
SMART Domains Protein: ENSMUSP00000078723
Gene: ENSMUSG00000059077
AA Change: *116K

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
PTH 30 65 7.55e-20 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit diminished cartilage mineralization, and reductions in angiopoietin-1, neovascularization, metaphyseal osteoblasts, and trabecular bone. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110025L11Rik T A 16: 88,860,603 (GRCm39) Y77F unknown Het
4933409G03Rik G A 2: 68,436,559 (GRCm39) E168K unknown Het
Aldoa A G 7: 126,396,879 (GRCm39) S71P possibly damaging Het
Arhgef12 A G 9: 42,893,266 (GRCm39) V979A probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Brd8 T C 18: 34,739,752 (GRCm39) T674A probably benign Het
Cacna1d C T 14: 29,817,365 (GRCm39) M1232I probably benign Het
Capza1 A G 3: 104,752,296 (GRCm39) V14A probably damaging Het
Cdk2 A T 10: 128,538,364 (GRCm39) I135N probably damaging Het
Celf4 A T 18: 25,629,302 (GRCm39) M407K possibly damaging Het
Cenpf A T 1: 189,392,235 (GRCm39) D532E probably benign Het
Cideb A G 14: 55,992,688 (GRCm39) V76A possibly damaging Het
Dbpht2 C G 12: 74,345,933 (GRCm39) noncoding transcript Het
Dis3l2 A G 1: 86,918,043 (GRCm39) D550G possibly damaging Het
Dnah1 A T 14: 31,006,844 (GRCm39) probably null Het
Edc4 T A 8: 106,619,307 (GRCm39) L1293* probably null Het
Elp5 A G 11: 69,860,398 (GRCm39) V203A possibly damaging Het
Fndc7 T C 3: 108,770,135 (GRCm39) N597S probably benign Het
Gjb3 T C 4: 127,220,484 (GRCm39) Y16C probably damaging Het
Gm5773 A G 3: 93,680,712 (GRCm39) D128G probably benign Het
Gnb1l T C 16: 18,363,025 (GRCm39) probably null Het
Gon4l G A 3: 88,770,859 (GRCm39) D514N possibly damaging Het
Grhl3 T A 4: 135,276,547 (GRCm39) probably null Het
Hoxc10 T C 15: 102,875,698 (GRCm39) S136P probably benign Het
Ift22 G A 5: 136,940,655 (GRCm39) V107I probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lamc1 T G 1: 153,104,523 (GRCm39) S59R probably damaging Het
Lgi4 G A 7: 30,768,554 (GRCm39) A518T probably benign Het
Lhx2 T A 2: 38,250,052 (GRCm39) N290K probably damaging Het
Ltbp4 A T 7: 27,013,734 (GRCm39) C1092S probably damaging Het
Macf1 T C 4: 123,367,412 (GRCm39) I2450V probably benign Het
Mefv A G 16: 3,535,682 (GRCm39) L82P probably damaging Het
Myb A G 10: 21,028,840 (GRCm39) L86P probably damaging Het
Myh3 C T 11: 66,977,270 (GRCm39) T333M probably damaging Het
Nek11 T C 9: 105,225,279 (GRCm39) N78D possibly damaging Het
Nmi C A 2: 51,838,646 (GRCm39) C296F probably benign Het
Nphs1 A T 7: 30,181,895 (GRCm39) T1163S probably benign Het
Npy4r C T 14: 33,868,181 (GRCm39) G369D possibly damaging Het
Ola1 T C 2: 72,972,309 (GRCm39) T221A probably damaging Het
Or51d1 A G 7: 102,348,027 (GRCm39) D194G probably damaging Het
Or8c11 T C 9: 38,289,699 (GRCm39) F168S probably damaging Het
Pfkfb2 A T 1: 130,633,200 (GRCm39) N184K possibly damaging Het
Plce1 T C 19: 38,513,088 (GRCm39) V129A probably benign Het
Prps2 T C X: 166,135,288 (GRCm39) D183G probably damaging Het
R3hdm1 T C 1: 128,112,181 (GRCm39) S422P probably damaging Het
Rhox2a G C X: 36,508,962 (GRCm39) R43P probably benign Het
Rwdd3 A G 3: 120,952,826 (GRCm39) F55S probably damaging Het
Serpinb9d A T 13: 33,386,836 (GRCm39) L301F probably benign Het
Slc35e4 A G 11: 3,862,677 (GRCm39) C171R probably damaging Het
Slco1a4 A T 6: 141,758,424 (GRCm39) I529K possibly damaging Het
Styk1 A T 6: 131,277,532 (GRCm39) W370R probably damaging Het
Tmprss11e C A 5: 86,875,212 (GRCm39) W18L probably damaging Het
Trpv1 A C 11: 73,129,089 (GRCm39) E2A probably benign Het
Unc13b T A 4: 43,261,035 (GRCm39) I1799N probably damaging Het
Vmn1r213 G A 13: 23,196,422 (GRCm39) C335Y possibly damaging Het
Vps37c C T 19: 10,690,273 (GRCm39) S245L probably benign Het
Wrn T C 8: 33,745,537 (GRCm39) T1191A probably benign Het
Zfp13 A G 17: 23,799,112 (GRCm39) L153P probably damaging Het
Zfp472 T G 17: 33,196,631 (GRCm39) S235R possibly damaging Het
Other mutations in Pth
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2884:Pth UTSW 7 112,985,235 (GRCm39) missense probably damaging 1.00
R2964:Pth UTSW 7 112,985,136 (GRCm39) missense probably benign 0.00
R2965:Pth UTSW 7 112,985,136 (GRCm39) missense probably benign 0.00
R2966:Pth UTSW 7 112,985,136 (GRCm39) missense probably benign 0.00
R5240:Pth UTSW 7 112,985,051 (GRCm39) missense probably damaging 1.00
R7606:Pth UTSW 7 112,985,450 (GRCm39) missense probably benign 0.21
R9050:Pth UTSW 7 112,985,043 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACACTGCTTACTTGATTCATGAGC -3'
(R):5'- TCCATGGAGAGGATGCAATG -3'

Sequencing Primer
(F):5'- CTTACTTGATTCATGAGCATTAAAGC -3'
(R):5'- CAATGGCTGAGAAGGAAGCTGC -3'
Posted On 2015-10-08