Incidental Mutation 'R7470:Pah'
ID 579132
Institutional Source Beutler Lab
Gene Symbol Pah
Ensembl Gene ENSMUSG00000020051
Gene Name phenylalanine hydroxylase
Synonyms
MMRRC Submission 045544-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7470 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 87357657-87419998 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87399286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 155 (R155Q)
Ref Sequence ENSEMBL: ENSMUSP00000020241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020241] [ENSMUST00000217864] [ENSMUST00000219813]
AlphaFold P16331
Predicted Effect probably damaging
Transcript: ENSMUST00000020241
AA Change: R155Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020241
Gene: ENSMUSG00000020051
AA Change: R155Q

DomainStartEndE-ValueType
Pfam:ACT 35 100 1.8e-10 PFAM
Pfam:Biopterin_H 119 449 1.3e-177 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217864
AA Change: R52Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000218573
Predicted Effect probably benign
Transcript: ENSMUST00000219813
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 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.] PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for ENU-induced mutations of this gene have altered serum and urine phenylalanine levels and may display reduced body size, microcephaly, microphthalmia, decreased litter size, hypopigmentation, impaired balance/swimming, cognitive deficits, and environmentally-induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A T 9: 55,898,622 (GRCm39) V238E possibly damaging Het
Actn3 G A 19: 4,917,842 (GRCm39) S375L possibly damaging Het
Adgrg6 T C 10: 14,319,810 (GRCm39) T476A probably benign Het
Afm T A 5: 90,679,486 (GRCm39) S327T probably damaging Het
Apol7e T A 15: 77,602,143 (GRCm39) M247K probably benign Het
Aqp12 T A 1: 92,936,385 (GRCm39) L237Q probably damaging Het
Arhgef12 A T 9: 42,951,848 (GRCm39) S63T probably damaging Het
Axdnd1 T A 1: 156,204,086 (GRCm39) E393V Het
Cacna1g T A 11: 94,352,765 (GRCm39) D365V possibly damaging Het
Ccdc3 T A 2: 5,143,115 (GRCm39) V124E possibly damaging Het
Ccr7 C T 11: 99,036,383 (GRCm39) V180M possibly damaging Het
Cd47 T A 16: 49,704,585 (GRCm39) I119K Het
Cenpe A T 3: 134,947,916 (GRCm39) L1158F probably damaging Het
Cfi A G 3: 129,648,736 (GRCm39) R207G probably benign Het
Cyp2j6 T C 4: 96,423,708 (GRCm39) Y220C probably benign Het
Ddhd2 A G 8: 26,225,087 (GRCm39) F577L probably benign Het
Dhx40 T C 11: 86,667,528 (GRCm39) E537G probably damaging Het
Disp3 A T 4: 148,345,527 (GRCm39) C438S possibly damaging Het
Dock3 A G 9: 106,882,644 (GRCm39) S380P probably damaging Het
Ehmt2 A G 17: 35,118,372 (GRCm39) E106G possibly damaging Het
Fmnl2 A T 2: 52,932,377 (GRCm39) I119F probably damaging Het
Gm11554 A C 11: 99,695,190 (GRCm39) S8A unknown Het
Grm7 A G 6: 111,478,476 (GRCm39) I54V Het
Hbs1l T C 10: 21,234,683 (GRCm39) F579L possibly damaging Het
Hgf C A 5: 16,823,854 (GRCm39) Q684K probably benign Het
Igsf3 T C 3: 101,358,391 (GRCm39) Y741H possibly damaging Het
Il17rb C A 14: 29,719,990 (GRCm39) G304W probably damaging Het
Ino80c C T 18: 24,241,895 (GRCm39) W163* probably null Het
Kcnt1 A C 2: 25,799,845 (GRCm39) D997A probably damaging Het
Klf7 C T 1: 64,081,472 (GRCm39) probably null Het
Lingo1 T C 9: 56,527,908 (GRCm39) Y233C probably damaging Het
Lmo7 C A 14: 102,138,040 (GRCm39) T914K possibly damaging Het
Mark1 G T 1: 184,660,241 (GRCm39) Y138* probably null Het
Mcm3ap C A 10: 76,344,231 (GRCm39) T1791K probably damaging Het
Mcts2 T C 2: 152,529,582 (GRCm39) I131T probably benign Het
Mipep A G 14: 61,040,344 (GRCm39) D288G probably benign Het
Ms4a8a T A 19: 11,053,714 (GRCm39) N131Y possibly damaging Het
Nalcn T C 14: 123,809,456 (GRCm39) E232G probably benign Het
Nat10 C T 2: 103,565,226 (GRCm39) A452T probably benign Het
Nfatc2 G A 2: 168,365,227 (GRCm39) Q596* probably null Het
Nudt13 G T 14: 20,359,791 (GRCm39) G173W probably damaging Het
Or10n1 C A 9: 39,524,998 (GRCm39) T45K probably benign Het
Or1e16 T A 11: 73,286,714 (GRCm39) I45F probably damaging Het
Or5l14 A T 2: 87,792,793 (GRCm39) C148S possibly damaging Het
Or8b4 T A 9: 37,830,592 (GRCm39) I213N probably damaging Het
Otud4 T C 8: 80,399,989 (GRCm39) V901A probably benign Het
Pkd1l3 A G 8: 110,365,008 (GRCm39) H1130R probably benign Het
Pnliprp1 A G 19: 58,720,457 (GRCm39) N111S possibly damaging Het
Ppp1r21 T C 17: 88,869,649 (GRCm39) Y401H probably damaging Het
Prr14 A G 7: 127,074,997 (GRCm39) K466R probably null Het
Ralgapa2 A G 2: 146,266,587 (GRCm39) L663P probably damaging Het
Reg3d A T 6: 78,353,071 (GRCm39) C171S possibly damaging Het
Reln G T 5: 22,147,739 (GRCm39) L2404I probably damaging Het
Rnasel A C 1: 153,629,777 (GRCm39) I98L probably benign Het
Rnf216 T C 5: 142,978,480 (GRCm39) D886G possibly damaging Het
Rp1l1 A G 14: 64,266,015 (GRCm39) R534G probably benign Het
Selenon A C 4: 134,267,061 (GRCm39) S514A probably benign Het
Sema3d T A 5: 12,558,152 (GRCm39) I228N probably damaging Het
Serpinb9g T A 13: 33,670,617 (GRCm39) I35N probably damaging Het
Siglec1 A C 2: 130,917,744 (GRCm39) H1044Q probably benign Het
Skint5 T A 4: 113,614,128 (GRCm39) I693F unknown Het
Skint5 G T 4: 113,743,000 (GRCm39) L370M unknown Het
Slc12a1 G A 2: 125,059,815 (GRCm39) W905* probably null Het
Slc26a9 G C 1: 131,691,781 (GRCm39) V675L probably benign Het
Slc5a7 A T 17: 54,583,990 (GRCm39) Y433* probably null Het
Slc7a4 A G 16: 17,392,977 (GRCm39) I274T probably benign Het
Slmap A G 14: 26,148,575 (GRCm39) V612A probably benign Het
Spen T C 4: 141,206,605 (GRCm39) D674G unknown Het
Ssh1 T C 5: 114,080,488 (GRCm39) T981A possibly damaging Het
Sycp2l T C 13: 41,316,580 (GRCm39) S180P probably benign Het
Tdrd7 C A 4: 45,990,144 (GRCm39) S181R probably benign Het
Thada T C 17: 84,533,469 (GRCm39) N1661D probably benign Het
Tsga13 C A 6: 30,876,981 (GRCm39) D179Y possibly damaging Het
Ttf2 T G 3: 100,870,478 (GRCm39) Q198H possibly damaging Het
Ugt2b37 T G 5: 87,401,971 (GRCm39) Y220S probably benign Het
Unc79 C T 12: 103,061,235 (GRCm39) T1145I probably damaging Het
Unc80 T A 1: 66,661,621 (GRCm39) M1682K probably benign Het
Vcp A G 4: 42,982,891 (GRCm39) S652P probably damaging Het
Vmn2r-ps158 T A 7: 42,697,310 (GRCm39) M789K probably damaging Het
Wrnip1 T A 13: 33,000,310 (GRCm39) L439* probably null Het
Zfhx2 A G 14: 55,304,207 (GRCm39) I1259T possibly damaging Het
Zfp369 A T 13: 65,439,960 (GRCm39) T215S probably benign Het
Zfp64 A T 2: 168,767,731 (GRCm39) V627E probably damaging Het
Zfp873 T C 10: 81,895,773 (GRCm39) I168T probably benign Het
Other mutations in Pah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Pah APN 10 87,414,755 (GRCm39) missense probably benign 0.02
IGL00823:Pah APN 10 87,406,193 (GRCm39) missense probably null 1.00
IGL01350:Pah APN 10 87,414,221 (GRCm39) intron probably benign
IGL01668:Pah APN 10 87,414,123 (GRCm39) missense probably damaging 1.00
IGL01794:Pah APN 10 87,414,784 (GRCm39) missense possibly damaging 0.63
IGL01956:Pah APN 10 87,374,061 (GRCm39) missense probably benign 0.03
IGL01985:Pah APN 10 87,414,844 (GRCm39) missense probably damaging 1.00
IGL02014:Pah APN 10 87,417,789 (GRCm39) missense probably benign 0.00
IGL02552:Pah APN 10 87,414,707 (GRCm39) intron probably benign
IGL03096:Pah APN 10 87,374,104 (GRCm39) critical splice donor site probably null
bronze UTSW 10 87,406,088 (GRCm39) missense probably damaging 1.00
parakeet UTSW 10 87,412,077 (GRCm39) critical splice donor site probably null
skeet UTSW 10 87,374,081 (GRCm39) nonsense probably null
R0238:Pah UTSW 10 87,403,143 (GRCm39) missense possibly damaging 0.74
R0239:Pah UTSW 10 87,403,143 (GRCm39) missense possibly damaging 0.74
R0239:Pah UTSW 10 87,403,143 (GRCm39) missense possibly damaging 0.74
R0839:Pah UTSW 10 87,357,924 (GRCm39) missense probably damaging 1.00
R0853:Pah UTSW 10 87,412,080 (GRCm39) splice site probably null
R1474:Pah UTSW 10 87,414,175 (GRCm39) missense probably damaging 1.00
R1762:Pah UTSW 10 87,403,330 (GRCm39) missense possibly damaging 0.91
R1886:Pah UTSW 10 87,364,190 (GRCm39) missense possibly damaging 0.91
R2179:Pah UTSW 10 87,403,197 (GRCm39) missense probably damaging 1.00
R2852:Pah UTSW 10 87,403,327 (GRCm39) missense probably damaging 1.00
R3818:Pah UTSW 10 87,357,866 (GRCm39) start gained probably benign
R4509:Pah UTSW 10 87,412,077 (GRCm39) critical splice donor site probably null
R4725:Pah UTSW 10 87,390,238 (GRCm39) missense probably damaging 1.00
R4911:Pah UTSW 10 87,406,129 (GRCm39) missense probably benign 0.42
R5094:Pah UTSW 10 87,374,081 (GRCm39) nonsense probably null
R5766:Pah UTSW 10 87,403,209 (GRCm39) missense probably damaging 1.00
R6210:Pah UTSW 10 87,419,423 (GRCm39) missense probably benign 0.01
R6273:Pah UTSW 10 87,412,077 (GRCm39) critical splice donor site probably null
R6345:Pah UTSW 10 87,412,049 (GRCm39) missense probably damaging 1.00
R6349:Pah UTSW 10 87,414,831 (GRCm39) missense probably benign 0.01
R7109:Pah UTSW 10 87,406,148 (GRCm39) missense probably damaging 1.00
R7511:Pah UTSW 10 87,390,249 (GRCm39) missense probably damaging 1.00
R8288:Pah UTSW 10 87,374,047 (GRCm39) missense probably benign 0.00
R8447:Pah UTSW 10 87,417,827 (GRCm39) critical splice donor site probably null
R8684:Pah UTSW 10 87,414,827 (GRCm39) missense probably benign
R9216:Pah UTSW 10 87,357,888 (GRCm39) missense probably benign 0.06
R9292:Pah UTSW 10 87,403,218 (GRCm39) missense probably damaging 1.00
R9589:Pah UTSW 10 87,403,197 (GRCm39) missense probably damaging 1.00
Z1088:Pah UTSW 10 87,407,153 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTCTGGGTTTAACAGAGACC -3'
(R):5'- GGCGAGACATAGACTGTAGC -3'

Sequencing Primer
(F):5'- GACCTTATTTTAGAGCATCATCAAGG -3'
(R):5'- GGAAGGTTATACACACACATGTAC -3'
Posted On 2019-10-07