Incidental Mutation 'IGL02450:Pthlh'
ID 294112
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pthlh
Ensembl Gene ENSMUSG00000048776
Gene Name parathyroid hormone-like peptide
Synonyms parathyroid hormone-related protein, Pthrp, parathyroid hormone-like hormone, PTH-related peptide, parathyroid hormone-related peptide, PTH-like
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02450
Quality Score
Status
Chromosome 6
Chromosomal Location 147153607-147165511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 147158666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 98 (D98A)
Ref Sequence ENSEMBL: ENSMUSP00000145509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052296] [ENSMUST00000204197]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000052296
AA Change: D98A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000051433
Gene: ENSMUSG00000048776
AA Change: D98A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
PTH 35 70 2.26e-18 SMART
low complexity region 115 144 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000204197
AA Change: D98A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145509
Gene: ENSMUSG00000048776
AA Change: D98A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
PTH 35 70 2.26e-18 SMART
low complexity region 115 144 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the parathyroid family of hormones that possesses distinct paracrine and intracrine signaling roles such as regulation of circulating calcium, transplacental calcium transport, osteoclast inhibition, renal bicarbonate excretion and regulation of apoptosis. The encoded protein undergoes proteolytic processing to generate multiple active peptides with distinct signaling functions. The homozygous deletion of this gene leads to death shortly after birth with a chondrodystrophic phenotype characterized by premature chondrocyte differentiation and accelerated bone formation. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit dischondroplasia associated with premature maturation of chondrocytes and die postnatally from asphyxia. Mutants rescued from neonatal lethality lack mammary development and tooth eruption. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,798,963 (GRCm39) *781W probably null Het
Adamts16 C A 13: 70,984,419 (GRCm39) R81S probably damaging Het
Aldh1l1 A G 6: 90,546,855 (GRCm39) D386G probably benign Het
Anxa6 G A 11: 54,885,767 (GRCm39) R393W probably damaging Het
Bdnf G A 2: 109,553,949 (GRCm39) V108I possibly damaging Het
Bpgm C T 6: 34,464,399 (GRCm39) R39W probably damaging Het
Cd101 T C 3: 100,901,054 (GRCm39) E1006G probably damaging Het
Cd109 A T 9: 78,603,132 (GRCm39) E972V possibly damaging Het
Cdhr3 T A 12: 33,132,224 (GRCm39) Q133L probably benign Het
Cdk5r1 C T 11: 80,368,666 (GRCm39) A111V probably benign Het
Cnga4 A T 7: 105,054,955 (GRCm39) I77F probably damaging Het
Egfem1 G A 3: 29,711,417 (GRCm39) probably null Het
Fbxl21 T A 13: 56,674,766 (GRCm39) V39D possibly damaging Het
Gimap6 T C 6: 48,681,351 (GRCm39) I94M probably benign Het
Glis1 T C 4: 107,484,726 (GRCm39) V407A probably benign Het
Gm5784 C T 12: 19,437,970 (GRCm39) noncoding transcript Het
Gm9839 A T 1: 32,559,964 (GRCm39) probably benign Het
Heatr5a T A 12: 51,992,213 (GRCm39) M566L probably benign Het
Jph1 G A 1: 17,074,201 (GRCm39) P606S possibly damaging Het
Jup C T 11: 100,269,183 (GRCm39) C410Y probably damaging Het
Kif23 A G 9: 61,831,239 (GRCm39) M777T probably benign Het
Lifr G T 15: 7,220,246 (GRCm39) D959Y probably damaging Het
Lsm1 C A 8: 26,283,806 (GRCm39) L73I possibly damaging Het
Maneal G A 4: 124,750,928 (GRCm39) A276V probably benign Het
Myh4 A G 11: 67,142,635 (GRCm39) D932G probably damaging Het
Nipbl C T 15: 8,373,058 (GRCm39) V1063M probably damaging Het
Nlrx1 A G 9: 44,164,798 (GRCm39) V882A probably benign Het
Obox6 A G 7: 15,567,638 (GRCm39) C270R probably damaging Het
Or13a19 A G 7: 139,903,140 (GRCm39) H176R possibly damaging Het
Pard3b A G 1: 62,571,835 (GRCm39) I925V possibly damaging Het
Pdhx A G 2: 102,872,594 (GRCm39) S163P probably benign Het
Pdzrn3 T C 6: 101,331,461 (GRCm39) D271G probably damaging Het
Plec A G 15: 76,075,515 (GRCm39) I399T probably damaging Het
Spata31f3 A G 4: 42,874,127 (GRCm39) S14P probably benign Het
Spock3 T A 8: 63,698,249 (GRCm39) probably null Het
Tgtp2 C T 11: 48,950,317 (GRCm39) G85D probably benign Het
Tmem94 A G 11: 115,683,897 (GRCm39) D739G probably damaging Het
Washc5 G A 15: 59,204,166 (GRCm39) R706* probably null Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zscan20 G T 4: 128,480,450 (GRCm39) D680E probably damaging Het
Other mutations in Pthlh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01148:Pthlh APN 6 147,154,073 (GRCm39) missense probably benign 0.15
R0847:Pthlh UTSW 6 147,164,766 (GRCm39) critical splice donor site probably null
R2171:Pthlh UTSW 6 147,158,694 (GRCm39) missense probably damaging 1.00
R2174:Pthlh UTSW 6 147,158,510 (GRCm39) missense probably benign 0.00
R3123:Pthlh UTSW 6 147,164,789 (GRCm39) missense probably damaging 0.98
R3124:Pthlh UTSW 6 147,164,789 (GRCm39) missense probably damaging 0.98
R3125:Pthlh UTSW 6 147,164,789 (GRCm39) missense probably damaging 0.98
R4660:Pthlh UTSW 6 147,158,796 (GRCm39) missense probably damaging 1.00
R5234:Pthlh UTSW 6 147,158,592 (GRCm39) missense probably damaging 1.00
R5244:Pthlh UTSW 6 147,158,651 (GRCm39) missense probably damaging 1.00
R5809:Pthlh UTSW 6 147,158,745 (GRCm39) missense probably damaging 0.99
R6475:Pthlh UTSW 6 147,158,688 (GRCm39) missense probably damaging 0.98
R7548:Pthlh UTSW 6 147,158,653 (GRCm39) missense possibly damaging 0.56
R8144:Pthlh UTSW 6 147,158,663 (GRCm39) missense probably damaging 1.00
Z1177:Pthlh UTSW 6 147,164,840 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16