Incidental Mutation 'IGL00479:Pah'
ID 13669
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 # IGL00479
Quality Score
Status
Chromosome 10
Chromosomal Location 87357657-87419998 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87414755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 369 (L369P)
Ref Sequence ENSEMBL: ENSMUSP00000020241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020241] [ENSMUST00000219813]
AlphaFold P16331
Predicted Effect probably benign
Transcript: ENSMUST00000020241
AA Change: L369P

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000020241
Gene: ENSMUSG00000020051
AA Change: L369P

DomainStartEndE-ValueType
Pfam:ACT 35 100 1.8e-10 PFAM
Pfam:Biopterin_H 119 449 1.3e-177 PFAM
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A C 4: 156,255,029 (GRCm39) probably benign Het
Antkmt A G 17: 26,010,418 (GRCm39) Y104H probably damaging Het
Arid4a A G 12: 71,119,367 (GRCm39) K651E probably damaging Het
Atpaf2 A T 11: 60,300,410 (GRCm39) probably null Het
Cd177 G T 7: 24,457,440 (GRCm39) S200R probably benign Het
Cd209g A T 8: 4,185,622 (GRCm39) T19S probably benign Het
Cxcr4 A G 1: 128,516,792 (GRCm39) W290R probably damaging Het
D930020B18Rik T C 10: 121,521,489 (GRCm39) L491P probably damaging Het
Dnah7a T C 1: 53,458,843 (GRCm39) D3765G probably damaging Het
Dpy19l4 T G 4: 11,290,411 (GRCm39) M327L probably benign Het
Eya3 G A 4: 132,431,709 (GRCm39) G314D probably damaging Het
Fmo1 G A 1: 162,657,632 (GRCm39) T503I probably benign Het
Galnt3 A G 2: 65,925,628 (GRCm39) S370P probably damaging Het
Gm5431 A T 11: 48,786,241 (GRCm39) S45T probably benign Het
Gnai3 A G 3: 108,023,073 (GRCm39) probably benign Het
Gpat2 A G 2: 127,276,381 (GRCm39) E637G probably damaging Het
Gpr84 T C 15: 103,217,834 (GRCm39) Y81C probably damaging Het
Hnmt A T 2: 23,893,896 (GRCm39) Y199* probably null Het
Homer1 G T 13: 93,483,156 (GRCm39) R81L probably damaging Het
Hspa4 A T 11: 53,171,544 (GRCm39) probably null Het
Marchf6 A G 15: 31,475,909 (GRCm39) I649T probably benign Het
Mcm8 A G 2: 132,659,094 (GRCm39) N26S probably benign Het
Mgat5 T C 1: 127,315,204 (GRCm39) L310P probably damaging Het
Parp4 A C 14: 56,853,917 (GRCm39) K844N possibly damaging Het
Tlr5 A G 1: 182,801,394 (GRCm39) T233A probably benign Het
Tsnaxip1 A G 8: 106,568,055 (GRCm39) T274A probably benign Het
Wdr48 A G 9: 119,734,456 (GRCm39) Y125C probably damaging Het
Other mutations in Pah
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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