Incidental Mutation 'IGL01350:Pah'
ID 75336
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 # IGL01350
Quality Score
Status
Chromosome 10
Chromosomal Location 87357657-87419998 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 87414221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020241] [ENSMUST00000219813]
AlphaFold P16331
Predicted Effect probably benign
Transcript: ENSMUST00000020241
SMART Domains Protein: ENSMUSP00000020241
Gene: ENSMUSG00000020051

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,187,208 (GRCm39) I926T probably benign Het
Adam39 T A 8: 41,278,876 (GRCm39) C422* probably null Het
Aldh1l1 A G 6: 90,536,338 (GRCm39) N81S probably damaging Het
Amd1 A T 10: 40,166,186 (GRCm39) Y264* probably null Het
Axl T C 7: 25,458,175 (GRCm39) Y851C probably damaging Het
Ccdc70 T C 8: 22,463,690 (GRCm39) L160P probably damaging Het
Cd2ap A T 17: 43,136,812 (GRCm39) Y273* probably null Het
Cyb5rl T C 4: 106,941,409 (GRCm39) V278A possibly damaging Het
Cyp2c29 T C 19: 39,318,771 (GRCm39) F417S probably damaging Het
Dnah7b C A 1: 46,120,592 (GRCm39) probably benign Het
Epha4 A T 1: 77,483,492 (GRCm39) D172E probably damaging Het
Eya4 T A 10: 22,989,873 (GRCm39) I495F possibly damaging Het
Gpr150 A T 13: 76,204,542 (GRCm39) H134Q probably benign Het
Gpr153 T G 4: 152,366,423 (GRCm39) probably benign Het
Hipk2 A G 6: 38,795,250 (GRCm39) Y333H probably damaging Het
Jakmip1 T C 5: 37,242,775 (GRCm39) M21T probably benign Het
Kcnh3 A T 15: 99,139,873 (GRCm39) I920F probably benign Het
Lrp2 G A 2: 69,341,328 (GRCm39) R951C probably damaging Het
Msi1 A G 5: 115,573,580 (GRCm39) K126R possibly damaging Het
Nkx2-6 T A 14: 69,412,222 (GRCm39) F130Y probably damaging Het
Onecut2 T A 18: 64,474,160 (GRCm39) L218Q probably damaging Het
Or12j4 G T 7: 140,046,292 (GRCm39) M59I probably damaging Het
Or5p6 T C 7: 107,630,887 (GRCm39) Y221C probably damaging Het
Or8j3 A G 2: 86,028,149 (GRCm39) *316Q probably null Het
Per2 C T 1: 91,358,583 (GRCm39) E602K probably damaging Het
Plb1 C T 5: 32,474,408 (GRCm39) T623M probably damaging Het
Prkaa2 T C 4: 104,909,109 (GRCm39) probably null Het
Prl7b1 T A 13: 27,786,804 (GRCm39) T142S probably damaging Het
Psd3 T C 8: 68,173,544 (GRCm39) H1090R probably damaging Het
Siglecf G T 7: 43,005,319 (GRCm39) probably benign Het
Tas2r118 A G 6: 23,969,746 (GRCm39) V105A probably damaging Het
Thnsl1 T C 2: 21,217,011 (GRCm39) V255A probably benign Het
Tmprss5 T A 9: 49,020,757 (GRCm39) *84K probably null Het
Trrap C T 5: 144,767,779 (GRCm39) L2579F possibly damaging Het
Vdac1 A G 11: 52,276,489 (GRCm39) T211A probably benign Het
Vmn1r16 A T 6: 57,299,716 (GRCm39) V302D possibly damaging Het
Wdr75 T A 1: 45,857,420 (GRCm39) C572* probably null Het
Xpc A G 6: 91,476,993 (GRCm39) S369P probably benign Het
Zdhhc20 A G 14: 58,111,444 (GRCm39) V52A probably benign Het
Zfp977 T C 7: 42,230,090 (GRCm39) Y145C probably damaging 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
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 2013-10-07