Incidental Mutation 'R9281:Pts'
ID 703633
Institutional Source Beutler Lab
Gene Symbol Pts
Ensembl Gene ENSMUSG00000032067
Gene Name 6-pyruvoyl-tetrahydropterin synthase
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Not available question?
Stock # R9281 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 50432917-50440017 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50433853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 96 (V96A)
Ref Sequence ENSEMBL: ENSMUSP00000034570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034570] [ENSMUST00000213144] [ENSMUST00000214873] [ENSMUST00000215416]
AlphaFold Q9R1Z7
Predicted Effect probably damaging
Transcript: ENSMUST00000034570
AA Change: V96A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034570
Gene: ENSMUSG00000032067
AA Change: V96A

DomainStartEndE-ValueType
Pfam:PTPS 12 144 2.5e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213144
Predicted Effect probably damaging
Transcript: ENSMUST00000214873
AA Change: V29A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000215416
AA Change: V29A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced dopamine and serotonin levels in brain, increased levels of neopterin, biopterin, and phenylalanine in liver, and lethality within the first week after birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A G 7: 41,274,184 (GRCm39) I102M possibly damaging Het
2700049A03Rik G A 12: 71,205,687 (GRCm39) V444I possibly damaging Het
Afdn T A 17: 14,024,270 (GRCm39) C59S probably damaging Het
Ano1 A T 7: 144,149,318 (GRCm39) Y848N probably damaging Het
Arap2 C T 5: 62,906,848 (GRCm39) R57H probably damaging Het
Atp10b C T 11: 43,116,458 (GRCm39) T935I probably benign Het
Bcl11b A G 12: 107,882,257 (GRCm39) L686P possibly damaging Het
Bmp5 T C 9: 75,683,856 (GRCm39) V161A probably benign Het
C1qtnf3 A G 15: 10,978,607 (GRCm39) E196G probably benign Het
Cacng8 T A 7: 3,460,608 (GRCm39) F130L probably damaging Het
Cap1 A G 4: 122,766,226 (GRCm39) M4T probably benign Het
Ccdc57 T C 11: 120,751,413 (GRCm39) K886E probably benign Het
Cdhr2 A C 13: 54,881,703 (GRCm39) T1112P possibly damaging Het
Clcn4 A T 7: 7,294,813 (GRCm39) M316K probably benign Het
Col22a1 A T 15: 71,732,920 (GRCm39) D1099E unknown Het
Csmd3 A C 15: 47,460,272 (GRCm39) N2595K Het
Ctdspl2 A G 2: 121,841,063 (GRCm39) H451R probably benign Het
Cybrd1 A T 2: 70,968,735 (GRCm39) T203S probably benign Het
Dhx29 A G 13: 113,078,240 (GRCm39) N312S possibly damaging Het
Dhx30 A T 9: 109,929,983 (GRCm39) S38T probably benign Het
Dync2i1 G A 12: 116,211,677 (GRCm39) R277* probably null Het
Ercc8 G T 13: 108,320,364 (GRCm39) A317S probably benign Het
Fndc3a T C 14: 72,799,097 (GRCm39) T629A probably benign Het
Frmpd1 G T 4: 45,284,127 (GRCm39) A983S probably benign Het
Gm14325 T A 2: 177,473,597 (GRCm39) Y495F probably damaging Het
Gm5773 A T 3: 93,680,891 (GRCm39) T188S probably benign Het
Gpsm1 C A 2: 26,214,488 (GRCm39) N243K probably damaging Het
Inpp4a C G 1: 37,410,850 (GRCm39) H339Q probably damaging Het
Kat2b A G 17: 53,931,425 (GRCm39) D141G probably benign Het
Kdm4a A G 4: 117,995,728 (GRCm39) V1003A probably damaging Het
Lrrc25 T A 8: 71,073,246 (GRCm39) M276K probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mcmdc2 G A 1: 9,994,425 (GRCm39) G406D probably damaging Het
Mfhas1 G T 8: 36,057,951 (GRCm39) A809S probably benign Het
Mier2 A T 10: 79,378,294 (GRCm39) D376E probably benign Het
Mllt3 A C 4: 87,707,566 (GRCm39) H464Q probably benign Het
Mtrex A T 13: 113,046,443 (GRCm39) C302* probably null Het
Myo6 T A 9: 80,162,164 (GRCm39) Y300* probably null Het
Myzap T C 9: 71,493,482 (GRCm39) D31G unknown Het
Nfatc1 T C 18: 80,741,190 (GRCm39) Y270C probably damaging Het
Nsd3 T C 8: 26,152,961 (GRCm39) S434P probably benign Het
Or13p3 A G 4: 118,566,592 (GRCm39) probably benign Het
Or1e26 T A 11: 73,480,133 (GRCm39) M144L probably benign Het
Osbp2 T A 11: 3,813,375 (GRCm39) T165S probably benign Het
Plxna1 A G 6: 89,300,313 (GRCm39) V1590A probably damaging Het
Pramel7 A G 2: 87,321,495 (GRCm39) L180P probably damaging Het
Prkd1 C T 12: 50,536,758 (GRCm39) D109N probably benign Het
Ptger3 A G 3: 157,273,090 (GRCm39) M146V probably benign Het
Rab11fip5 T C 6: 85,318,834 (GRCm39) E685G probably benign Het
Rab27a C T 9: 72,992,278 (GRCm39) T102I probably damaging Het
Reln A G 5: 22,153,545 (GRCm39) L2253P probably damaging Het
Rock1 C T 18: 10,080,479 (GRCm39) A1022T probably benign Het
Rspry1 T A 8: 95,363,259 (GRCm39) N259K probably damaging Het
Sdha A T 13: 74,472,056 (GRCm39) Y604* probably null Het
Slc12a6 A G 2: 112,164,754 (GRCm39) N151S probably benign Het
Slc26a5 T A 5: 22,019,051 (GRCm39) D596V probably benign Het
Snrpa A G 7: 26,891,051 (GRCm39) V140A probably benign Het
Spta1 T G 1: 174,047,444 (GRCm39) V1696G probably damaging Het
St13 A T 15: 81,261,927 (GRCm39) D179E probably damaging Het
Stpg4 T C 17: 87,702,671 (GRCm39) D182G probably benign Het
Synm A T 7: 67,386,048 (GRCm39) L538* probably null Het
Tigar A T 6: 127,068,157 (GRCm39) L87H probably damaging Het
Tmem67 C A 4: 12,079,962 (GRCm39) V110F possibly damaging Het
Trav6n-5 T A 14: 53,342,744 (GRCm39) L94* probably null Het
Ttf1 A G 2: 28,955,902 (GRCm39) H422R probably benign Het
Ttn A G 2: 76,619,926 (GRCm39) V15914A probably damaging Het
Vmn2r13 C A 5: 109,303,953 (GRCm39) C826F probably damaging Het
Wwc1 C G 11: 35,780,211 (GRCm39) G248A probably benign Het
Zfp120 G A 2: 149,959,615 (GRCm39) H258Y probably damaging Het
Zfp142 A G 1: 74,607,731 (GRCm39) Y1681H probably damaging Het
Zkscan3 A G 13: 21,579,045 (GRCm39) L150P possibly damaging Het
Zscan4-ps1 G T 7: 10,799,589 (GRCm39) F433L possibly damaging Het
Other mutations in Pts
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5715:Pts UTSW 9 50,433,578 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACATTTTCTGTCGTGCTGAAG -3'
(R):5'- CTGCTTTGTACAGCCTGGAAG -3'

Sequencing Primer
(F):5'- TTCTGTCGTGCTGAAGAAAAAG -3'
(R):5'- TTTGTACAGCCTGGAAGGACCG -3'
Posted On 2022-03-25