Incidental Mutation 'R2426:Cyp4v3'
ID 250222
Institutional Source Beutler Lab
Gene Symbol Cyp4v3
Ensembl Gene ENSMUSG00000079057
Gene Name cytochrome P450, family 4, subfamily v, polypeptide 3
Synonyms
MMRRC Submission 040388-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2426 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 45304944-45333216 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45317776 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 231 (Y231F)
Ref Sequence ENSEMBL: ENSMUSP00000092966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095328]
AlphaFold Q9DBW0
Predicted Effect probably benign
Transcript: ENSMUST00000095328
AA Change: Y231F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092966
Gene: ENSMUSG00000079057
AA Change: Y231F

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:p450 51 517 2.7e-123 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency
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 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit corneoretinal crystal accumulation and systemic dyslipidemia characteristic of Bietti Crystalline Dystrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik T A 11: 23,576,801 (GRCm38) R190W probably damaging Het
Abca14 G T 7: 120,283,223 (GRCm38) V1203L probably benign Het
Adamtsl1 G A 4: 86,156,788 (GRCm38) V131I probably benign Het
Adgra3 A T 5: 50,009,449 (GRCm38) M187K possibly damaging Het
Agbl1 T C 7: 76,421,902 (GRCm38) V324A probably damaging Het
Ahnak A T 19: 9,002,851 (GRCm38) I500F possibly damaging Het
Aldh1l1 A G 6: 90,598,284 (GRCm38) D851G probably damaging Het
Amot T C X: 145,476,291 (GRCm38) K460E probably damaging Het
Arhgef3 G T 14: 27,384,181 (GRCm38) E161* probably null Het
Atg9b A T 5: 24,386,994 (GRCm38) I669N probably damaging Het
AY761184 T G 8: 21,702,637 (GRCm38) K114N possibly damaging Het
Ccdc83 A G 7: 90,228,431 (GRCm38) Y268H probably damaging Het
Cep170 A G 1: 176,774,635 (GRCm38) S302P probably benign Het
Cyp4a31 T A 4: 115,571,016 (GRCm38) M303K probably damaging Het
Dock3 A T 9: 106,914,541 (GRCm38) L1411Q possibly damaging Het
Dsg1a T A 18: 20,336,804 (GRCm38) I629N probably damaging Het
Dst A T 1: 34,192,812 (GRCm38) H2837L probably benign Het
Fam114a2 G A 11: 57,493,080 (GRCm38) P343L probably benign Het
Fbrs A G 7: 127,487,339 (GRCm38) probably null Het
Fbxl13 A C 5: 21,522,137 (GRCm38) D620E probably damaging Het
Frmd4a T A 2: 4,529,862 (GRCm38) S164T probably damaging Het
Gdi2 T G 13: 3,562,034 (GRCm38) S330A probably benign Het
Gm5878 A T 6: 85,118,631 (GRCm38) M70K probably benign Het
H2-Q6 G T 17: 35,424,937 (GRCm38) A21S probably benign Het
Hfm1 A T 5: 106,847,653 (GRCm38) probably null Het
Hnmt C T 2: 24,019,155 (GRCm38) C82Y probably benign Het
Il1rl1 C A 1: 40,446,619 (GRCm38) A310D probably damaging Het
Ints1 A T 5: 139,771,814 (GRCm38) probably null Het
Kcne4 C A 1: 78,817,971 (GRCm38) A112E possibly damaging Het
Krt32 T C 11: 100,086,366 (GRCm38) K236R possibly damaging Het
Maml2 T C 9: 13,706,498 (GRCm38) L380P probably damaging Het
Meis1 A T 11: 18,988,356 (GRCm38) D218E possibly damaging Het
Mon1b G A 8: 113,639,120 (GRCm38) G360D probably damaging Het
Mpp4 A G 1: 59,130,057 (GRCm38) S383P probably damaging Het
Neb A G 2: 52,169,053 (GRCm38) probably null Het
Nlgn2 A T 11: 69,827,086 (GRCm38) I431N probably damaging Het
Nr2e1 A G 10: 42,563,485 (GRCm38) L134P probably damaging Het
Olfr329-ps A T 11: 58,543,094 (GRCm38) Y127* probably null Het
Olfr371 T C 8: 85,231,064 (GRCm38) S190P probably damaging Het
Olfr777 T C 10: 129,269,266 (GRCm38) Q19R probably benign Het
Opcml G A 9: 28,903,367 (GRCm38) probably null Het
Pate2 A T 9: 35,670,480 (GRCm38) probably null Het
Pgr G A 9: 8,900,717 (GRCm38) V84M probably damaging Het
Pigu A T 2: 155,299,082 (GRCm38) V296D probably damaging Het
Plcb2 G A 2: 118,715,649 (GRCm38) T555M probably damaging Het
Pld5 T G 1: 175,963,976 (GRCm38) D426A probably benign Het
Prdm2 G T 4: 143,111,750 (GRCm38) C1679* probably null Het
Psme2b A T 11: 48,946,063 (GRCm38) V19D probably benign Het
Ptpn9 A T 9: 57,027,428 (GRCm38) N159Y possibly damaging Het
Sdc3 A T 4: 130,818,803 (GRCm38) T64S unknown Het
Serping1 T G 2: 84,770,219 (GRCm38) S260R probably damaging Het
Slc20a1 T C 2: 129,208,230 (GRCm38) F436S probably benign Het
Sntb1 A T 15: 55,906,179 (GRCm38) I138N probably damaging Het
Sorcs3 A T 19: 48,722,925 (GRCm38) Y643F probably damaging Het
Spink1 G T 18: 43,735,222 (GRCm38) S23* probably null Het
Stag1 T C 9: 100,845,116 (GRCm38) probably null Het
Tnfaip8l1 G A 17: 56,172,030 (GRCm38) V107I probably benign Het
Tnik A G 3: 28,646,681 (GRCm38) S907G probably damaging Het
Ttf1 T A 2: 29,067,185 (GRCm38) M489K probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm38) P46S probably benign Het
Usp54 G A 14: 20,564,940 (GRCm38) A811V probably benign Het
Xirp2 A G 2: 67,514,471 (GRCm38) N2352S probably benign Het
Zan T C 5: 137,388,992 (GRCm38) Y4933C unknown Het
Zbtb8a A G 4: 129,360,219 (GRCm38) S161P probably benign Het
Zkscan5 A T 5: 145,220,940 (GRCm38) I751L probably benign Het
Zscan4d A G 7: 11,165,095 (GRCm38) F85S probably damaging Het
Zzef1 A G 11: 72,915,265 (GRCm38) M2647V probably benign Het
Other mutations in Cyp4v3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Cyp4v3 APN 8 45,307,003 (GRCm38) missense probably benign 0.04
IGL00503:Cyp4v3 APN 8 45,307,021 (GRCm38) missense probably damaging 0.98
IGL00757:Cyp4v3 APN 8 45,320,615 (GRCm38) missense probably damaging 0.98
IGL02375:Cyp4v3 APN 8 45,308,374 (GRCm38) splice site probably null
IGL02565:Cyp4v3 APN 8 45,320,637 (GRCm38) missense possibly damaging 0.63
IGL02881:Cyp4v3 APN 8 45,308,716 (GRCm38) missense probably damaging 1.00
R0745:Cyp4v3 UTSW 8 45,308,651 (GRCm38) unclassified probably benign
R1818:Cyp4v3 UTSW 8 45,315,636 (GRCm38) missense possibly damaging 0.77
R1819:Cyp4v3 UTSW 8 45,315,636 (GRCm38) missense possibly damaging 0.77
R1902:Cyp4v3 UTSW 8 45,306,952 (GRCm38) missense probably benign 0.00
R3747:Cyp4v3 UTSW 8 45,315,708 (GRCm38) nonsense probably null
R3748:Cyp4v3 UTSW 8 45,315,708 (GRCm38) nonsense probably null
R3750:Cyp4v3 UTSW 8 45,315,708 (GRCm38) nonsense probably null
R4289:Cyp4v3 UTSW 8 45,328,223 (GRCm38) missense possibly damaging 0.46
R4569:Cyp4v3 UTSW 8 45,306,992 (GRCm38) missense probably damaging 1.00
R4960:Cyp4v3 UTSW 8 45,320,637 (GRCm38) missense possibly damaging 0.63
R5260:Cyp4v3 UTSW 8 45,306,980 (GRCm38) missense probably damaging 1.00
R5479:Cyp4v3 UTSW 8 45,310,206 (GRCm38) missense probably benign 0.00
R5667:Cyp4v3 UTSW 8 45,308,535 (GRCm38) missense possibly damaging 0.94
R5940:Cyp4v3 UTSW 8 45,321,784 (GRCm38) missense probably damaging 1.00
R6102:Cyp4v3 UTSW 8 45,320,160 (GRCm38) missense probably damaging 1.00
R6470:Cyp4v3 UTSW 8 45,317,736 (GRCm38) nonsense probably null
R6592:Cyp4v3 UTSW 8 45,306,981 (GRCm38) missense probably benign 0.02
R6700:Cyp4v3 UTSW 8 45,307,093 (GRCm38) missense probably damaging 1.00
R7027:Cyp4v3 UTSW 8 45,310,252 (GRCm38) missense possibly damaging 0.93
R7341:Cyp4v3 UTSW 8 45,321,750 (GRCm38) missense probably benign 0.01
R7966:Cyp4v3 UTSW 8 45,332,917 (GRCm38) missense probably benign 0.44
R8331:Cyp4v3 UTSW 8 45,315,708 (GRCm38) nonsense probably null
R8886:Cyp4v3 UTSW 8 45,321,748 (GRCm38) nonsense probably null
R8955:Cyp4v3 UTSW 8 45,308,527 (GRCm38) missense probably benign 0.00
R8957:Cyp4v3 UTSW 8 45,306,981 (GRCm38) missense probably benign 0.02
R9718:Cyp4v3 UTSW 8 45,320,666 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTGCATAACATTGCGAAATC -3'
(R):5'- CTGTAGAGACAAAAGCACTGAC -3'

Sequencing Primer
(F):5'- GCGAAATCATTTAATTCCACTTGAC -3'
(R):5'- ACTGACCAGGGGCTGTCTG -3'
Posted On 2014-11-12