Incidental Mutation 'IGL00823:Pah'
ID 12898
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pah
Ensembl Gene ENSMUSG00000020051
Gene Name phenylalanine hydroxylase
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00823
Quality Score
Status
Chromosome 10
Chromosomal Location 87357657-87419998 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87406193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 174 (Y174C)
Ref Sequence ENSEMBL: ENSMUSP00000151368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020241] [ENSMUST00000217864] [ENSMUST00000219813]
AlphaFold P16331
Predicted Effect probably damaging
Transcript: ENSMUST00000020241
AA Change: Y277C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020241
Gene: ENSMUSG00000020051
AA Change: Y277C

DomainStartEndE-ValueType
Pfam:ACT 35 100 1.8e-10 PFAM
Pfam:Biopterin_H 119 449 1.3e-177 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000133293
AA Change: Y174C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119455
Gene: ENSMUSG00000020051
AA Change: Y174C

DomainStartEndE-ValueType
Pfam:Biopterin_H 16 174 3.9e-95 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000217864
AA Change: Y174C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000218573
Predicted Effect probably benign
Transcript: ENSMUST00000219813
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 77,026,381 (GRCm39) probably benign Het
Adam5 T C 8: 25,308,758 (GRCm39) E39G probably benign Het
Anapc7 G A 5: 122,571,540 (GRCm39) W205* probably null Het
Arhgap5 C T 12: 52,565,525 (GRCm39) T832I possibly damaging Het
Arhgef10 T A 8: 14,990,378 (GRCm39) probably benign Het
Atg5 A G 10: 44,239,040 (GRCm39) T274A probably benign Het
Baiap2l2 G T 15: 79,168,765 (GRCm39) probably benign Het
Brap T A 5: 121,803,290 (GRCm39) M146K probably damaging Het
Brpf1 T C 6: 113,298,847 (GRCm39) S1074P probably benign Het
Camta1 A C 4: 151,169,058 (GRCm39) I231R probably benign Het
Ccdc15 C T 9: 37,231,709 (GRCm39) G205D probably benign Het
Cd6 G T 19: 10,773,758 (GRCm39) probably benign Het
Cdh17 T G 4: 11,783,412 (GRCm39) S219R possibly damaging Het
Cgn G A 3: 94,674,519 (GRCm39) R873W probably damaging Het
Ctnna3 C T 10: 63,373,322 (GRCm39) P41L possibly damaging Het
Dmbt1 T C 7: 130,659,888 (GRCm39) W484R probably benign Het
Dmd A G X: 83,469,419 (GRCm39) probably null Het
Dnah17 C T 11: 117,937,987 (GRCm39) V3347I probably benign Het
Fgd5 T A 6: 91,965,440 (GRCm39) S400T possibly damaging Het
Kitl C A 10: 99,923,206 (GRCm39) probably benign Het
Lamc3 A T 2: 31,808,533 (GRCm39) D763V probably damaging Het
Lgmn T C 12: 102,364,435 (GRCm39) probably benign Het
Lpcat2 T G 8: 93,591,598 (GRCm39) W81G possibly damaging Het
Myh13 A G 11: 67,246,773 (GRCm39) I1165V probably benign Het
Nf1 A G 11: 79,456,343 (GRCm39) D599G probably damaging Het
Nin T C 12: 70,061,567 (GRCm39) N2099S probably benign Het
Nlrc4 T C 17: 74,754,985 (GRCm39) D77G probably benign Het
Otub1 A G 19: 7,181,416 (GRCm39) probably benign Het
Pabir2 A T X: 52,334,208 (GRCm39) C222S probably damaging Het
Rbbp5 G A 1: 132,417,444 (GRCm39) V88I probably damaging Het
Scn1a C T 2: 66,155,279 (GRCm39) R560H probably benign Het
Snx5 T C 2: 144,097,485 (GRCm39) I217V probably benign Het
Syne2 T C 12: 76,036,016 (GRCm39) S3769P probably damaging Het
Tent2 T C 13: 93,322,905 (GRCm39) T15A probably benign Het
Tmem255b T C 8: 13,507,054 (GRCm39) M261T probably benign Het
Top3b T C 16: 16,705,486 (GRCm39) I417T probably damaging Het
Tspan2 T C 3: 102,665,549 (GRCm39) probably null Het
Ttn T C 2: 76,540,057 (GRCm39) T34310A possibly damaging Het
Ush2a G A 1: 188,643,640 (GRCm39) C4334Y possibly damaging Het
Wdpcp A G 11: 21,609,995 (GRCm39) D21G probably damaging Het
Yy2 A C X: 156,351,207 (GRCm39) D186E probably benign Het
Other mutations in Pah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Pah APN 10 87,414,755 (GRCm39) missense probably benign 0.02
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
R7470:Pah UTSW 10 87,399,286 (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
Posted On 2012-12-06