Incidental Mutation 'R2965:Pth'
ID 256019
Institutional Source Beutler Lab
Gene Symbol Pth
Ensembl Gene ENSMUSG00000059077
Gene Name parathyroid hormone
Synonyms
MMRRC Submission 040521-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2965 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 112984787-112987777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112985136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 79 (H79R)
Ref Sequence ENSEMBL: ENSMUSP00000078723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079793]
AlphaFold Q9Z0L6
Predicted Effect probably benign
Transcript: ENSMUST00000079793
AA Change: H79R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000078723
Gene: ENSMUSG00000059077
AA Change: H79R

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
PTH 30 65 7.55e-20 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C T 7: 41,275,829 (GRCm39) R511* probably null Het
Add1 C A 5: 34,788,058 (GRCm39) D702E probably benign Het
Aff3 A G 1: 38,248,791 (GRCm39) I772T probably damaging Het
Ankar T C 1: 72,714,979 (GRCm39) I382V probably benign Het
Anks1 A G 17: 28,272,879 (GRCm39) T925A probably benign Het
Asprv1 T A 6: 86,605,348 (GRCm39) C65S probably damaging Het
Atp8a1 T C 5: 67,805,049 (GRCm39) D1022G probably benign Het
Cep250 A G 2: 155,836,798 (GRCm39) K2256E probably benign Het
Chsy1 G A 7: 65,821,912 (GRCm39) G716R probably damaging Het
Cntln T C 4: 84,892,264 (GRCm39) probably null Het
Col13a1 G A 10: 61,797,110 (GRCm39) R106W probably damaging Het
Col2a1 A G 15: 97,873,976 (GRCm39) I1402T unknown Het
Col4a3 T C 1: 82,626,321 (GRCm39) L86P unknown Het
Cul9 A G 17: 46,813,154 (GRCm39) V2355A probably damaging Het
Ddx43 C A 9: 78,313,661 (GRCm39) Y197* probably null Het
Dnah7b T A 1: 46,246,732 (GRCm39) I1636N probably damaging Het
Dpysl5 G A 5: 30,948,941 (GRCm39) D399N probably damaging Het
Dyrk2 T A 10: 118,696,242 (GRCm39) K339* probably null Het
Fam187b A C 7: 30,677,154 (GRCm39) D221A probably benign Het
Fbxw21 A G 9: 108,974,578 (GRCm39) I314T probably benign Het
Fgd6 T A 10: 93,880,056 (GRCm39) F303L probably benign Het
Fstl3 T C 10: 79,617,057 (GRCm39) V200A probably benign Het
Gm10784 A T 13: 50,099,233 (GRCm39) noncoding transcript Het
Gpr45 G A 1: 43,071,668 (GRCm39) D104N possibly damaging Het
Gria1 C T 11: 57,076,627 (GRCm39) Q8* probably null Het
H2-T22 A G 17: 36,351,537 (GRCm39) L231S probably damaging Het
Ice1 A T 13: 70,750,697 (GRCm39) D1796E probably benign Het
Ing1 T A 8: 11,611,641 (GRCm39) S26R probably benign Het
Klhl2 C T 8: 65,205,794 (GRCm39) V376M probably benign Het
Lrriq1 A G 10: 103,050,761 (GRCm39) S664P probably benign Het
Ltf G T 9: 110,857,540 (GRCm39) C443F possibly damaging Het
Mgam T C 6: 40,745,154 (GRCm39) V1807A possibly damaging Het
Mnd1 C A 3: 84,041,416 (GRCm39) C62F probably benign Het
Mycbp2 A G 14: 103,534,794 (GRCm39) V304A probably benign Het
Nek10 T C 14: 14,836,202 (GRCm38) L141P probably damaging Het
Noa1 T C 5: 77,454,191 (GRCm39) E483G possibly damaging Het
Or5b101 C T 19: 13,005,412 (GRCm39) A94T probably benign Het
Pkd1l1 T A 11: 8,824,236 (GRCm39) S1110C probably damaging Het
Potefam1 A T 2: 111,034,364 (GRCm39) S359T possibly damaging Het
Ppp4r4 T C 12: 103,579,080 (GRCm39) S873P probably damaging Het
Prss35 A G 9: 86,637,635 (GRCm39) D135G probably damaging Het
Rab21 T C 10: 115,130,814 (GRCm39) N164S probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Slc4a5 C T 6: 83,273,651 (GRCm39) T997I probably damaging Het
Ssrp1 A G 2: 84,871,930 (GRCm39) T385A possibly damaging Het
Tcf15 T C 2: 151,985,871 (GRCm39) I109T probably damaging Het
Tcp11 C A 17: 28,288,239 (GRCm39) D330Y probably benign Het
Tktl2 T A 8: 66,964,715 (GRCm39) V91E probably benign Het
Usp48 G A 4: 137,341,073 (GRCm39) V358M probably damaging Het
Vmn1r228 A G 17: 20,996,609 (GRCm39) I303T probably damaging Het
Zfp229 T G 17: 21,965,010 (GRCm39) H413Q probably 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
R2966:Pth UTSW 7 112,985,136 (GRCm39) missense probably benign 0.00
R4650:Pth UTSW 7 112,985,026 (GRCm39) makesense probably null
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'- TCATAAGCTTGAAAAGGTAGCAGC -3'
(R):5'- TAAGTGCTGCAGCCCATTG -3'

Sequencing Primer
(F):5'- TAGCAGCATATGTCAGTGCC -3'
(R):5'- CCCATTGTGCACAGGGAAGTG -3'
Posted On 2014-12-29