Incidental Mutation 'R0847:Pthlh'
ID 77011
Institutional Source Beutler Lab
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
MMRRC Submission 039026-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0847 (G1)
Quality Score 199
Status Not validated
Chromosome 6
Chromosomal Location 147153607-147165511 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 147164766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052296] [ENSMUST00000204197]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000052296
SMART Domains Protein: ENSMUSP00000051433
Gene: ENSMUSG00000048776

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 null
Transcript: ENSMUST00000204197
SMART Domains Protein: ENSMUSP00000145509
Gene: ENSMUSG00000048776

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.2%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,895,764 (GRCm39) I899T probably damaging Het
Ahnak C T 19: 8,983,797 (GRCm39) Q1694* probably null Het
Cblc A T 7: 19,524,459 (GRCm39) Y260* probably null Het
Ccn4 T G 15: 66,791,124 (GRCm39) C309G probably damaging Het
Ceacam5 A G 7: 17,491,762 (GRCm39) T711A possibly damaging Het
Cep63 A G 9: 102,465,957 (GRCm39) S690P probably benign Het
Chia1 A T 3: 106,039,253 (GRCm39) I448F probably benign Het
Dmxl2 A T 9: 54,313,112 (GRCm39) F1712I probably damaging Het
Ecpas G A 4: 58,841,439 (GRCm39) T645I probably benign Het
Exosc3 A G 4: 45,319,695 (GRCm39) V109A probably damaging Het
Fxyd7 A G 7: 30,744,029 (GRCm39) C60R probably damaging Het
Gm17349 C A 15: 99,600,289 (GRCm39) probably benign Het
Gpn2 A G 4: 133,315,906 (GRCm39) N199D probably benign Het
Ints12 C T 3: 132,814,603 (GRCm39) T270M possibly damaging Het
Kdm4a C T 4: 118,021,695 (GRCm39) E266K probably damaging Het
Kremen2 G T 17: 23,963,634 (GRCm39) T50N probably damaging Het
Macf1 A T 4: 123,293,159 (GRCm39) D1249E probably benign Het
Mdga2 T A 12: 66,769,854 (GRCm39) K146N probably damaging Het
Med20 G A 17: 47,922,618 (GRCm39) probably null Het
Myo18b T C 5: 113,022,354 (GRCm39) probably benign Het
Nav3 T A 10: 109,739,718 (GRCm39) T84S possibly damaging Het
Olfm2 A G 9: 20,579,953 (GRCm39) V266A probably damaging Het
Or5b101 A T 19: 13,005,095 (GRCm39) Y199* probably null Het
Or5b123 C T 19: 13,596,915 (GRCm39) H87Y probably benign Het
Or6c69b T A 10: 129,627,327 (GRCm39) I44F probably damaging Het
Rpap3 C T 15: 97,601,082 (GRCm39) probably null Het
Rprd2 A G 3: 95,672,725 (GRCm39) S893P probably benign Het
Sacm1l G A 9: 123,377,927 (GRCm39) G69D probably damaging Het
Slc27a4 T C 2: 29,701,261 (GRCm39) S351P probably benign Het
Sobp C G 10: 42,898,415 (GRCm39) R390P probably damaging Het
Spata7 T A 12: 98,614,689 (GRCm39) M107K possibly damaging Het
Sri G A 5: 8,113,755 (GRCm39) probably null Het
Stab2 T C 10: 86,805,735 (GRCm39) I204V probably benign Het
Synm T C 7: 67,384,804 (GRCm39) I511V probably damaging Het
Tbr1 T C 2: 61,635,373 (GRCm39) S108P probably benign Het
Tln1 A G 4: 43,555,333 (GRCm39) F197S probably damaging Het
Tmem167b C T 3: 108,467,537 (GRCm39) G46R probably benign Het
Tmprss11g T C 5: 86,638,585 (GRCm39) K301R probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trpm2 C T 10: 77,765,122 (GRCm39) V960M possibly damaging Het
Ube3a G A 7: 58,926,334 (GRCm39) D371N possibly damaging Het
Vmn2r57 A T 7: 41,078,225 (GRCm39) F78I probably benign Het
Other mutations in Pthlh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01148:Pthlh APN 6 147,154,073 (GRCm39) missense probably benign 0.15
IGL02450:Pthlh APN 6 147,158,666 (GRCm39) missense possibly damaging 0.95
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
Predicted Primers PCR Primer
(F):5'- GGCACACAGACAGTTCCTGAATCC -3'
(R):5'- GTAAAACGCCCGGTTTTCGCTC -3'

Sequencing Primer
(F):5'- GACTCCCTCTTATGGAAAGGC -3'
(R):5'- CAGTTAGAGGCGCTGATTCCTAC -3'
Posted On 2013-10-16