Incidental Mutation 'R3123:Pthlh'
ID 264150
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 040596-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3123 (G1)
Quality Score 154
Status Validated
Chromosome 6
Chromosomal Location 147153607-147165511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 147164789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 27 (V27E)
Ref Sequence ENSEMBL: ENSMUSP00000145509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052296] [ENSMUST00000204197]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000052296
AA Change: V27E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000051433
Gene: ENSMUSG00000048776
AA Change: V27E

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 damaging
Transcript: ENSMUST00000204197
AA Change: V27E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145509
Gene: ENSMUSG00000048776
AA Change: V27E

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
PTH 35 70 2.26e-18 SMART
low complexity region 115 144 N/A INTRINSIC
Meta Mutation Damage Score 0.3418 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (46/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak9 A G 10: 41,234,576 (GRCm39) I646V possibly damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Caskin2 T C 11: 115,695,623 (GRCm39) D246G probably damaging Het
Csn1s2b T C 5: 87,966,917 (GRCm39) probably benign Het
Ctsa T A 2: 164,677,152 (GRCm39) probably null Het
Cyp2j8 G A 4: 96,389,450 (GRCm39) probably benign Het
Dach2 T C X: 112,729,664 (GRCm39) I417T possibly damaging Het
Dcaf8l A T X: 88,448,327 (GRCm39) Y601N probably benign Het
Dhx9 T C 1: 153,341,452 (GRCm39) K599E possibly damaging Het
Duox2 A G 2: 122,111,554 (GRCm39) probably benign Het
F2rl3 T C 8: 73,489,840 (GRCm39) S356P probably damaging Het
Fem1b T C 9: 62,703,836 (GRCm39) I475V probably benign Het
Glra3 A G 8: 56,578,244 (GRCm39) R434G possibly damaging Het
Gpr75 T A 11: 30,841,709 (GRCm39) S205T possibly damaging Het
Hsd17b12 C T 2: 93,864,303 (GRCm39) R268Q probably benign Het
Htt T C 5: 34,961,875 (GRCm39) S287P probably benign Het
Ifi27l2b T C 12: 103,417,594 (GRCm39) T198A unknown Het
Kdm5d T C Y: 900,558 (GRCm39) V201A possibly damaging Het
Khdrbs2 C A 1: 32,558,858 (GRCm39) R408L probably damaging Het
Lonp1 A G 17: 56,933,488 (GRCm39) I129T possibly damaging Het
Macc1 T C 12: 119,411,368 (GRCm39) F712S probably damaging Het
Mcpt8 A T 14: 56,321,398 (GRCm39) I22K probably damaging Het
Nop2 G A 6: 125,109,164 (GRCm39) probably benign Het
Or10ag53 A T 2: 87,083,135 (GRCm39) T285S possibly damaging Het
Or2l13 A G 16: 19,305,765 (GRCm39) Y59C probably damaging Het
Or2y3 G A 17: 38,392,903 (GRCm39) probably null Het
Pkd1l1 T A 11: 8,923,021 (GRCm39) D82V unknown Het
Polr2a A T 11: 69,626,536 (GRCm39) S1566T possibly damaging Het
Ppwd1 C T 13: 104,350,198 (GRCm39) E396K possibly damaging Het
Prr30 A G 14: 101,436,425 (GRCm39) S46P probably benign Het
Ptpn4 A G 1: 119,693,153 (GRCm39) probably null Het
Rad18 A T 6: 112,658,307 (GRCm39) D199E probably benign Het
Ralgps1 T C 2: 33,048,968 (GRCm39) T314A possibly damaging Het
Rbm27 A G 18: 42,460,230 (GRCm39) E764G probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Taf15 G A 11: 83,395,154 (GRCm39) probably null Het
Tas2r140 T A 6: 133,032,204 (GRCm39) I185L probably benign Het
Tgfbr2 G A 9: 115,939,137 (GRCm39) T230M possibly damaging Het
Tnpo1 GCACCTCTGCTTCCTC GCACCTCTGCTTCCTCACCTCTGCTTCCTC 13: 99,003,637 (GRCm39) probably null Het
Togaram1 G T 12: 65,013,118 (GRCm39) R123L probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trim9 C T 12: 70,295,167 (GRCm39) G648R probably damaging Het
Upf1 A G 8: 70,790,133 (GRCm39) probably benign Het
Vmn2r109 C T 17: 20,761,248 (GRCm39) C703Y probably damaging Het
Zfp574 G T 7: 24,781,026 (GRCm39) A683S possibly damaging Het
Zfp777 A G 6: 48,006,050 (GRCm39) 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
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
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'- TAGATGGCTTTCCTGGGCTC -3'
(R):5'- AGATGCCCTCGACTTTGGAG -3'

Sequencing Primer
(F):5'- ACTGTGTCCAACTCAGGT -3'
(R):5'- TGGCTGTTGGGAAGCCAC -3'
Posted On 2015-02-05