Incidental Mutation 'R2171:Pthlh'
ID 237481
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 040173-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2171 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 147153607-147165511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 147158694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 89 (K89Q)
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: K89Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051433
Gene: ENSMUSG00000048776
AA Change: K89Q

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: K89Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145509
Gene: ENSMUSG00000048776
AA Change: K89Q

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: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abt1 A G 13: 23,606,387 (GRCm39) L189P probably damaging Het
Adgrl3 C A 5: 81,660,362 (GRCm39) S377* probably null Het
Adgrv1 A G 13: 81,419,037 (GRCm39) V5986A probably damaging Het
Arv1 T G 8: 125,455,094 (GRCm39) C102W probably damaging Het
Asb18 T C 1: 89,896,419 (GRCm39) H207R probably benign Het
Bach2 T C 4: 32,501,662 (GRCm39) V13A probably damaging Het
Bccip T C 7: 133,320,843 (GRCm39) S206P probably benign Het
Cdhr4 T C 9: 107,870,117 (GRCm39) S41P probably benign Het
Chd7 A G 4: 8,752,424 (GRCm39) Y307C probably damaging Het
Clec4f A T 6: 83,629,846 (GRCm39) S237R possibly damaging Het
Cntnap5a A G 1: 116,116,132 (GRCm39) D538G possibly damaging Het
Col9a2 T A 4: 120,902,198 (GRCm39) C173* probably null Het
Ctr9 T A 7: 110,646,117 (GRCm39) M703K possibly damaging Het
Cyp2a12 A G 7: 26,729,057 (GRCm39) Y83C probably damaging Het
Eef1akmt3 A C 10: 126,868,843 (GRCm39) D210E probably benign Het
Erbin A G 13: 103,971,466 (GRCm39) F717L probably benign Het
Gtf3a A G 5: 146,892,272 (GRCm39) N341S probably benign Het
Hltf T C 3: 20,113,245 (GRCm39) V6A probably damaging Het
Itga6 T A 2: 71,650,358 (GRCm39) Y135N probably damaging Het
Krt73 T C 15: 101,709,345 (GRCm39) Q154R possibly damaging Het
Lce1a1 C T 3: 92,554,048 (GRCm39) C142Y unknown Het
Lcorl A T 5: 45,904,493 (GRCm39) I112N probably damaging Het
Ltbp1 C T 17: 75,598,312 (GRCm39) H916Y probably damaging Het
Lypla2 T C 4: 135,697,915 (GRCm39) probably null Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mmp1a T A 9: 7,475,357 (GRCm39) D375E probably damaging Het
Nlrp14 T G 7: 106,781,709 (GRCm39) L302R probably damaging Het
Npy2r T G 3: 82,447,708 (GRCm39) T243P possibly damaging Het
Or11h4 A T 14: 50,973,876 (GRCm39) S248T probably benign Het
Or51k2 T C 7: 103,595,992 (GRCm39) V73A probably damaging Het
Paqr9 A T 9: 95,442,931 (GRCm39) H307L probably damaging Het
Phc3 T C 3: 31,005,078 (GRCm39) T172A probably damaging Het
Pigs A G 11: 78,219,638 (GRCm39) T39A probably damaging Het
Pik3c2g C T 6: 139,801,012 (GRCm39) Q386* probably null Het
Pira2 T C 7: 3,847,417 (GRCm39) S91G probably benign Het
Plxna2 T A 1: 194,482,925 (GRCm39) N1539K probably damaging Het
Poc5 C T 13: 96,547,257 (GRCm39) H507Y probably damaging Het
Pou2f1 A T 1: 165,707,925 (GRCm39) probably benign Het
Rims4 A T 2: 163,706,046 (GRCm39) probably null Het
Rnf138 A G 18: 21,159,143 (GRCm39) N188D probably damaging Het
Rreb1 A G 13: 38,114,822 (GRCm39) D727G probably benign Het
Sc5d T G 9: 42,166,682 (GRCm39) K286Q probably benign Het
Slc10a5 C T 3: 10,400,342 (GRCm39) G106D possibly damaging Het
Smg6 A T 11: 74,929,472 (GRCm39) Q967L probably damaging Het
Spty2d1 C T 7: 46,644,361 (GRCm39) R636H probably damaging Het
Srms A T 2: 180,850,573 (GRCm39) Y195* probably null Het
Susd4 A G 1: 182,719,759 (GRCm39) D458G probably benign Het
Tecta T C 9: 42,270,220 (GRCm39) R1363G probably damaging Het
Thbs1 G A 2: 117,953,060 (GRCm39) G890D probably damaging Het
Tpp2 T C 1: 43,996,606 (GRCm39) V317A probably benign Het
Ttpa T C 4: 20,021,357 (GRCm39) V175A probably damaging Het
Vps13b G T 15: 35,887,343 (GRCm39) D3251Y probably benign Het
Vps54 A G 11: 21,248,810 (GRCm39) D441G probably benign Het
Zfp738 A T 13: 67,819,096 (GRCm39) Y298* probably null Het
Zfp804a G A 2: 82,087,527 (GRCm39) C452Y possibly damaging Het
Zxdc A G 6: 90,359,461 (GRCm39) K698E possibly damaging 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
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'- AGTACCTTAAGCTGGGCTCC -3'
(R):5'- AGGACCTCTGCTGACAATTGTC -3'

Sequencing Primer
(F):5'- GTCCTCAAGCAGGCCACTC -3'
(R):5'- GACAATTGTCTTCTCCCCTAACAG -3'
Posted On 2014-10-02