Incidental Mutation 'IGL01148:Pthlh'
ID51406
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pthlh
Ensembl Gene ENSMUSG00000048776
Gene Nameparathyroid hormone-like peptide
Synonymsparathyroid hormone-like hormone, PTH-related peptide, parathyroid hormone-related peptide, parathyroid hormone-related protein, PTH-like, Pthrp
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01148
Quality Score
Status
Chromosome6
Chromosomal Location147252101-147264183 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 147252575 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 174 (T174M)
Ref Sequence ENSEMBL: ENSMUSP00000145509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052296] [ENSMUST00000204197]
Predicted Effect probably benign
Transcript: ENSMUST00000052296
AA Change: T174M

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000051433
Gene: ENSMUSG00000048776
AA Change: T174M

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 probably benign
Transcript: ENSMUST00000204197
AA Change: T174M

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000145509
Gene: ENSMUSG00000048776
AA Change: T174M

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,685,172 E309G probably benign Het
Acap1 A T 11: 69,890,903 C64* probably null Het
Ccng2 G A 5: 93,270,887 D124N probably damaging Het
Cttnbp2 G A 6: 18,382,818 P1317L probably damaging Het
Dsg1a T A 18: 20,320,925 V29E probably damaging Het
Exoc6b T C 6: 84,908,226 K244E probably benign Het
Fastkd5 A G 2: 130,614,685 F662L probably benign Het
Fbxl18 T C 5: 142,885,825 M488V probably damaging Het
Gas2l3 C T 10: 89,413,504 G584D probably benign Het
Gm28042 T C 2: 120,039,038 F405L possibly damaging Het
Gm5415 A G 1: 32,545,654 S392P possibly damaging Het
Gtf3c2 T C 5: 31,159,824 K635E probably damaging Het
H2-Q2 A G 17: 35,342,678 Y48C probably damaging Het
Hddc2 T C 10: 31,316,334 I78T probably damaging Het
Hspg2 T A 4: 137,546,658 M2708K probably benign Het
Ift88 T C 14: 57,439,732 S119P probably benign Het
Mta2 T C 19: 8,948,304 C388R probably damaging Het
Mymx G T 17: 45,601,668 probably benign Het
Naga A G 15: 82,330,660 Y366H possibly damaging Het
Nlrp9a A G 7: 26,557,581 E208G probably damaging Het
Nr4a2 C T 2: 57,111,971 V94M probably benign Het
Olfr1232 G T 2: 89,326,024 T52K probably benign Het
Osbpl8 G T 10: 111,276,563 probably benign Het
Pitpnb T A 5: 111,338,356 V42D probably damaging Het
Pitrm1 A G 13: 6,573,105 R801G probably benign Het
Sco2 T C 15: 89,371,721 I243M probably benign Het
Sema5a G A 15: 32,681,495 V907M probably benign Het
Stac2 T A 11: 98,043,561 K106* probably null Het
Tas2r105 T A 6: 131,686,852 R204S probably damaging Het
Tgm5 A G 2: 121,046,675 probably null Het
Trpm1 A G 7: 64,243,564 I939V probably damaging Het
Ttll11 T A 2: 35,784,193 N574I probably damaging Het
Zfand3 A T 17: 30,135,400 T64S probably benign Het
Zfyve26 G A 12: 79,260,870 H312Y probably benign Het
Other mutations in Pthlh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02450:Pthlh APN 6 147257168 missense possibly damaging 0.95
R0847:Pthlh UTSW 6 147263268 critical splice donor site probably null
R2171:Pthlh UTSW 6 147257196 missense probably damaging 1.00
R2174:Pthlh UTSW 6 147257012 missense probably benign 0.00
R3123:Pthlh UTSW 6 147263291 missense probably damaging 0.98
R3124:Pthlh UTSW 6 147263291 missense probably damaging 0.98
R3125:Pthlh UTSW 6 147263291 missense probably damaging 0.98
R4660:Pthlh UTSW 6 147257298 missense probably damaging 1.00
R5234:Pthlh UTSW 6 147257094 missense probably damaging 1.00
R5244:Pthlh UTSW 6 147257153 missense probably damaging 1.00
R5809:Pthlh UTSW 6 147257247 missense probably damaging 0.99
R6475:Pthlh UTSW 6 147257190 missense probably damaging 0.98
R7548:Pthlh UTSW 6 147257155 missense possibly damaging 0.56
Posted On2013-06-21