Incidental Mutation 'R5124:Cyp26a1'
ID 393479
Institutional Source Beutler Lab
Gene Symbol Cyp26a1
Ensembl Gene ENSMUSG00000024987
Gene Name cytochrome P450, family 26, subfamily a, polypeptide 1
Synonyms retinoic acid hydrolase, P450RA, Cyp26, P450RAI, RAH
MMRRC Submission 042712-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5124 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 37686246-37689984 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37689665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 454 (I454L)
Ref Sequence ENSEMBL: ENSMUSP00000025946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025946]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025946
AA Change: I454L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000025946
Gene: ENSMUSG00000024987
AA Change: I454L

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:p450 45 487 2.4e-68 PFAM
Meta Mutation Damage Score 0.1391 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die during mid-late gestation and exhibit spina bifida, caudal agenesis, and abnormalities of the kidneys, urogenital tract, hindgut, cervical vertebrae, and rostral hindbrain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A T 4: 144,401,289 (GRCm39) I65N probably damaging Het
Adpgk A G 9: 59,222,561 (GRCm39) D496G possibly damaging Het
Agbl4 A G 4: 111,513,525 (GRCm39) M424V probably benign Het
Akap10 C T 11: 61,807,015 (GRCm39) A72T probably damaging Het
Bpifa3 C T 2: 153,980,057 (GRCm39) Q230* probably null Het
Cog4 G T 8: 111,573,825 (GRCm39) R48L probably damaging Het
Cop1 A G 1: 159,105,682 (GRCm39) Y33C probably damaging Het
Ddr1 T C 17: 35,994,489 (GRCm39) H762R probably damaging Het
Dnajc2 A T 5: 21,968,482 (GRCm39) S328T probably benign Het
Dppa2 G T 16: 48,131,986 (GRCm39) V28F probably damaging Het
Dusp15 T A 2: 152,793,275 (GRCm39) M1L possibly damaging Het
Eml5 G A 12: 98,758,301 (GRCm39) T1875M probably damaging Het
Fam186a A G 15: 99,840,977 (GRCm39) S1756P possibly damaging Het
Gm5431 T A 11: 48,779,866 (GRCm39) Q630L probably benign Het
H6pd A G 4: 150,066,512 (GRCm39) S625P possibly damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnj6 G T 16: 94,633,518 (GRCm39) P180T probably damaging Het
Lpin3 T A 2: 160,738,981 (GRCm39) M263K probably benign Het
Lrp2 A T 2: 69,331,834 (GRCm39) D1640E probably damaging Het
Lypd2 C T 15: 74,604,347 (GRCm39) A74T probably benign Het
Map4k1 T C 7: 28,688,257 (GRCm39) L223P probably damaging Het
Myh7 A T 14: 55,223,199 (GRCm39) Y715* probably null Het
Myo9b T C 8: 71,808,483 (GRCm39) S1697P probably damaging Het
Neb T C 2: 52,171,510 (GRCm39) E1661G probably damaging Het
Nek8 A T 11: 78,063,765 (GRCm39) M80K probably damaging Het
Nup188 T A 2: 30,220,947 (GRCm39) L979Q probably damaging Het
Or4c113 A T 2: 88,885,431 (GRCm39) V113D probably damaging Het
P4htm T A 9: 108,459,141 (GRCm39) S264C possibly damaging Het
Pcdha8 A G 18: 37,126,768 (GRCm39) T417A probably benign Het
Pclo T C 5: 14,727,406 (GRCm39) probably benign Het
Prox1 T A 1: 189,893,476 (GRCm39) N323I possibly damaging Het
Prune2 A T 19: 17,177,274 (GRCm39) R222S probably damaging Het
Psmd2 C A 16: 20,471,448 (GRCm39) R100S possibly damaging Het
Qrich2 A T 11: 116,337,599 (GRCm39) M1963K probably damaging Het
Rbm39 C T 2: 156,001,082 (GRCm39) G324D probably damaging Het
Rhobtb1 A T 10: 69,105,731 (GRCm39) probably null Het
Rhov G T 2: 119,101,568 (GRCm39) P13T unknown Het
Sec14l3 A G 11: 4,025,209 (GRCm39) D273G possibly damaging Het
Sirpd T A 3: 15,385,639 (GRCm39) R88* probably null Het
Slco2a1 T A 9: 102,927,365 (GRCm39) I86N probably damaging Het
Smg1 A T 7: 117,812,235 (GRCm39) S19T probably benign Het
Stk32a T C 18: 43,438,082 (GRCm39) S194P probably benign Het
Syna G A 5: 134,588,424 (GRCm39) S175L possibly damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tmem151b T C 17: 45,858,045 (GRCm39) Y67C probably damaging Het
Tshz1 C T 18: 84,033,592 (GRCm39) R272Q probably damaging Het
Tti1 A G 2: 157,850,115 (GRCm39) S375P probably damaging Het
Vcan T C 13: 89,873,636 (GRCm39) K73E probably damaging Het
Vmn1r202 C T 13: 22,685,920 (GRCm39) V166I probably benign Het
Vmn2r10 A G 5: 109,154,286 (GRCm39) V6A probably benign Het
Zfhx4 A G 3: 5,307,107 (GRCm39) D111G probably damaging Het
Zhx1 C G 15: 57,917,470 (GRCm39) G259R probably damaging Het
Other mutations in Cyp26a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Cyp26a1 APN 19 37,688,450 (GRCm39) missense probably benign 0.00
IGL01398:Cyp26a1 APN 19 37,686,395 (GRCm39) missense probably damaging 1.00
IGL01624:Cyp26a1 APN 19 37,686,781 (GRCm39) missense possibly damaging 0.94
IGL02398:Cyp26a1 APN 19 37,688,467 (GRCm39) missense probably benign
IGL02437:Cyp26a1 APN 19 37,686,943 (GRCm39) missense probably benign
IGL02709:Cyp26a1 APN 19 37,688,426 (GRCm39) missense probably damaging 1.00
IGL02712:Cyp26a1 APN 19 37,688,426 (GRCm39) missense probably damaging 1.00
R0834:Cyp26a1 UTSW 19 37,688,405 (GRCm39) missense probably damaging 0.96
R1517:Cyp26a1 UTSW 19 37,687,308 (GRCm39) missense probably benign
R1696:Cyp26a1 UTSW 19 37,689,626 (GRCm39) missense probably benign 0.02
R1831:Cyp26a1 UTSW 19 37,689,071 (GRCm39) missense probably damaging 0.98
R2040:Cyp26a1 UTSW 19 37,686,499 (GRCm39) missense possibly damaging 0.46
R2504:Cyp26a1 UTSW 19 37,686,790 (GRCm39) missense probably damaging 1.00
R4693:Cyp26a1 UTSW 19 37,686,925 (GRCm39) missense probably benign 0.11
R4808:Cyp26a1 UTSW 19 37,689,573 (GRCm39) missense probably benign
R5412:Cyp26a1 UTSW 19 37,689,630 (GRCm39) missense probably damaging 1.00
R5964:Cyp26a1 UTSW 19 37,688,410 (GRCm39) missense probably damaging 1.00
R6355:Cyp26a1 UTSW 19 37,687,377 (GRCm39) missense possibly damaging 0.46
R6426:Cyp26a1 UTSW 19 37,687,753 (GRCm39) missense probably benign 0.14
R6501:Cyp26a1 UTSW 19 37,687,518 (GRCm39) missense possibly damaging 0.80
R6734:Cyp26a1 UTSW 19 37,689,660 (GRCm39) missense probably damaging 1.00
R7019:Cyp26a1 UTSW 19 37,687,260 (GRCm39) missense probably damaging 1.00
R7188:Cyp26a1 UTSW 19 37,687,753 (GRCm39) missense possibly damaging 0.64
R7667:Cyp26a1 UTSW 19 37,689,072 (GRCm39) missense possibly damaging 0.83
R7694:Cyp26a1 UTSW 19 37,689,512 (GRCm39) missense possibly damaging 0.80
R8136:Cyp26a1 UTSW 19 37,689,654 (GRCm39) missense probably benign 0.00
R9198:Cyp26a1 UTSW 19 37,686,790 (GRCm39) missense probably damaging 1.00
R9674:Cyp26a1 UTSW 19 37,689,726 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTACAGTATCTGTGACACCCAC -3'
(R):5'- CACGGGACTGTAGTAGAGACAC -3'

Sequencing Primer
(F):5'- CACGATGTGGCAGATATCTTCAC -3'
(R):5'- GGGTAAATCTTGCAGGGA -3'
Posted On 2016-06-15