Incidental Mutation 'R3161:Phyh'
ID 258146
Institutional Source Beutler Lab
Gene Symbol Phyh
Ensembl Gene ENSMUSG00000026664
Gene Name phytanoyl-CoA hydroxylase
Synonyms Lnap1
MMRRC Submission 040612-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3161 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 4923830-4943541 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 4942482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027975]
AlphaFold O35386
Predicted Effect probably benign
Transcript: ENSMUST00000027975
SMART Domains Protein: ENSMUSP00000027975
Gene: ENSMUSG00000026664

DomainStartEndE-ValueType
Pfam:PhyH 61 277 1.4e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142299
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: When fed a high phytol diet, mice homozygous for a null allele exhibit hepatic lipidosis and steatosis, ataxia, peripheral neuropathy and loss of spermatogonia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T C 5: 64,053,833 (GRCm39) probably benign Het
1700066M21Rik T A 1: 57,422,234 (GRCm39) N203K probably benign Het
Adcy9 A G 16: 4,129,452 (GRCm39) L715P probably damaging Het
Adgrl2 G A 3: 148,523,187 (GRCm39) L1354F probably damaging Het
Amer2 A G 14: 60,616,000 (GRCm39) D65G probably damaging Het
Aox1 G T 1: 58,343,597 (GRCm39) V427L possibly damaging Het
Atad2b C A 12: 4,989,689 (GRCm39) N133K possibly damaging Het
Bptf A T 11: 106,965,302 (GRCm39) D1182E probably damaging Het
Camk1g T C 1: 193,042,115 (GRCm39) T45A possibly damaging Het
Caps2 C A 10: 112,018,391 (GRCm39) Y180* probably null Het
Cfap54 T A 10: 92,881,140 (GRCm39) K349N probably damaging Het
Chct1 A G 11: 85,064,110 (GRCm39) S84G probably damaging Het
Ciz1 A G 2: 32,260,075 (GRCm39) D207G probably benign Het
Copa T A 1: 171,918,800 (GRCm39) C127S probably damaging Het
Crabp2 A T 3: 87,859,484 (GRCm39) K45* probably null Het
Daam1 C A 12: 71,993,872 (GRCm39) T425K unknown Het
Dapk2 T G 9: 66,161,893 (GRCm39) V267G probably damaging Het
Disp1 T C 1: 182,868,806 (GRCm39) K1205E probably benign Het
Dlg4 G C 11: 69,908,051 (GRCm39) R4T probably damaging Het
Fbf1 A G 11: 116,039,046 (GRCm39) I743T probably damaging Het
Fen1 A G 19: 10,177,655 (GRCm39) L263P probably damaging Het
G6pc2 A G 2: 69,050,456 (GRCm39) N27S probably damaging Het
Garnl3 A T 2: 32,924,723 (GRCm39) N246K probably damaging Het
Gm7337 A C 5: 87,999,416 (GRCm39) noncoding transcript Het
Gpr152 A G 19: 4,192,713 (GRCm39) T85A probably benign Het
Hnrnpu T C 1: 178,158,690 (GRCm39) probably benign Het
Ighv1-81 C G 12: 115,883,949 (GRCm39) E101Q probably benign Het
Ipo9 T C 1: 135,337,214 (GRCm39) T174A probably benign Het
Myo9a C T 9: 59,739,598 (GRCm39) probably benign Het
Nup155 G T 15: 8,177,867 (GRCm39) R1083S possibly damaging Het
Or11g24 T A 14: 50,662,488 (GRCm39) C171S probably damaging Het
Or5an1c T C 19: 12,218,860 (GRCm39) H55R probably benign Het
Or6d13 C T 6: 116,517,807 (GRCm39) A131V probably damaging Het
Or7a35 C A 10: 78,853,438 (GRCm39) T94N probably benign Het
Pkp4 G T 2: 59,138,449 (GRCm39) R233M probably damaging Het
Plcb1 A T 2: 135,177,402 (GRCm39) Q578L probably benign Het
Ppil3 A T 1: 58,473,573 (GRCm39) N92K probably benign Het
Prokr1 C T 6: 87,565,413 (GRCm39) R144H probably damaging Het
Psap T C 10: 60,113,575 (GRCm39) L4P possibly damaging Het
Rai14 T C 15: 10,633,250 (GRCm39) T47A possibly damaging Het
Rps2 G T 17: 24,939,952 (GRCm39) A129S probably benign Het
Sult2a4 T C 7: 13,723,396 (GRCm39) T40A probably benign Het
Tacr2 A G 10: 62,101,024 (GRCm39) D378G probably benign Het
Topaz1 T C 9: 122,578,446 (GRCm39) I452T probably benign Het
Ttn A G 2: 76,663,581 (GRCm39) probably benign Het
Vmn2r115 T A 17: 23,575,998 (GRCm39) M532K possibly damaging Het
Vmn2r117 A G 17: 23,679,352 (GRCm39) L624P probably damaging Het
Vstm5 T G 9: 15,168,594 (GRCm39) S53A probably benign Het
Wipf1 C T 2: 73,265,293 (GRCm39) E437K probably damaging Het
Wls G T 3: 159,603,073 (GRCm39) C162F probably damaging Het
Yeats2 T C 16: 20,012,395 (GRCm39) V531A probably damaging Het
Zfp868 A G 8: 70,064,736 (GRCm39) S200P probably benign Het
Other mutations in Phyh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01299:Phyh APN 2 4,935,604 (GRCm39) missense probably null 1.00
R0552:Phyh UTSW 2 4,940,912 (GRCm39) missense probably damaging 1.00
R1624:Phyh UTSW 2 4,930,494 (GRCm39) missense probably benign 0.11
R1656:Phyh UTSW 2 4,943,164 (GRCm39) missense probably damaging 0.97
R1721:Phyh UTSW 2 4,942,620 (GRCm39) missense probably null 0.24
R5353:Phyh UTSW 2 4,947,012 (GRCm39) unclassified probably benign
R5907:Phyh UTSW 2 4,935,462 (GRCm39) splice site probably null
R6093:Phyh UTSW 2 4,923,896 (GRCm39) missense possibly damaging 0.51
R6188:Phyh UTSW 2 4,932,301 (GRCm39) missense probably damaging 0.96
R6394:Phyh UTSW 2 4,940,814 (GRCm39) missense probably benign 0.02
R7316:Phyh UTSW 2 4,940,855 (GRCm39) nonsense probably null
R8510:Phyh UTSW 2 4,932,244 (GRCm39) missense probably benign
R8798:Phyh UTSW 2 4,923,893 (GRCm39) missense probably damaging 1.00
R9048:Phyh UTSW 2 4,932,249 (GRCm39) missense probably benign
R9200:Phyh UTSW 2 4,932,247 (GRCm39) missense probably benign 0.00
R9482:Phyh UTSW 2 4,923,863 (GRCm39) start gained probably benign
X0060:Phyh UTSW 2 4,943,161 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TATGTCCTCTTGCGACATGC -3'
(R):5'- AGCGTTTCCTCTGTGATCG -3'

Sequencing Primer
(F):5'- TGCATACAAACACACACAAACATTG -3'
(R):5'- TGTGATCGCATGCAGTACC -3'
Posted On 2015-01-23