Incidental Mutation 'R9718:Cyp4v3'
ID 730605
Institutional Source Beutler Lab
Gene Symbol Cyp4v3
Ensembl Gene ENSMUSG00000079057
Gene Name cytochrome P450, family 4, subfamily v, polypeptide 3
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9718 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 45758838-45786200 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45773703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 155 (H155Q)
Ref Sequence ENSEMBL: ENSMUSP00000092966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095328]
AlphaFold Q9DBW0
Predicted Effect probably damaging
Transcript: ENSMUST00000095328
AA Change: H155Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092966
Gene: ENSMUSG00000079057
AA Change: H155Q

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:p450 51 517 2.7e-123 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik A C 2: 32,465,247 (GRCm39) probably benign Het
Acvr1c A T 2: 58,206,007 (GRCm39) D34E probably benign Het
Arhgef19 T C 4: 140,976,603 (GRCm39) V455A probably damaging Het
Cbfa2t3 T A 8: 123,364,936 (GRCm39) D282V probably benign Het
Ccl9 T A 11: 83,466,238 (GRCm39) N114I probably benign Het
Cdan1 G T 2: 120,554,650 (GRCm39) A875E probably damaging Het
Celf2 A T 2: 6,726,349 (GRCm39) F61L probably damaging Het
Chd9 T C 8: 91,712,801 (GRCm39) Y875H unknown Het
Ckap5 A T 2: 91,379,177 (GRCm39) K39M probably benign Het
Clcn3 T C 8: 61,390,434 (GRCm39) H169R possibly damaging Het
Csmd3 C A 15: 47,560,083 (GRCm39) V1416F Het
Dhx36 A G 3: 62,379,466 (GRCm39) F874S possibly damaging Het
Dnah14 A T 1: 181,450,544 (GRCm39) Q719L probably benign Het
Evi2 C T 11: 79,406,583 (GRCm39) V331M probably damaging Het
Fcgrt T G 7: 44,744,853 (GRCm39) E205A possibly damaging Het
Fkrp G T 7: 16,545,112 (GRCm39) T250N probably benign Het
Ftdc1 A G 16: 58,434,974 (GRCm39) L117S probably benign Het
Galc G A 12: 98,225,573 (GRCm39) P6S Het
Gm5134 A T 10: 75,828,331 (GRCm39) M304L possibly damaging Het
Haao T C 17: 84,142,215 (GRCm39) E208G probably damaging Het
Hook1 T A 4: 95,904,678 (GRCm39) H553Q probably benign Het
Igdcc3 A G 9: 65,090,280 (GRCm39) probably null Het
Ighv10-3 C T 12: 114,487,254 (GRCm39) V56I probably benign Het
Ighv1-62-1 G T 12: 115,350,705 (GRCm39) A15E probably benign Het
Krtap24-1 T C 16: 88,408,378 (GRCm39) *249W probably null Het
Ktn1 T G 14: 47,910,508 (GRCm39) I318R probably damaging Het
L3mbtl2 A G 15: 81,572,123 (GRCm39) T710A unknown Het
Ldha A T 7: 46,504,456 (GRCm39) Q326L possibly damaging Het
Map4 G A 9: 109,901,774 (GRCm39) probably null Het
Mdfic T A 6: 15,770,514 (GRCm39) H173Q probably damaging Het
Noxred1 T A 12: 87,271,692 (GRCm39) Q159L possibly damaging Het
Omd T C 13: 49,743,336 (GRCm39) S129P probably damaging Het
Or14j3 C T 17: 37,900,914 (GRCm39) G110D probably benign Het
Or52r1c T C 7: 102,735,196 (GRCm39) V152A probably benign Het
Parp16 A G 9: 65,141,009 (GRCm39) Y193C probably damaging Het
Pdzk1 A G 3: 96,763,174 (GRCm39) T201A Het
Phldb2 T A 16: 45,601,756 (GRCm39) H728L possibly damaging Het
Prrt1b A T 2: 29,637,548 (GRCm39) L42Q probably damaging Het
Ptchd4 C T 17: 42,813,641 (GRCm39) T514I probably damaging Het
Pusl1 T C 4: 155,976,094 (GRCm39) D24G probably benign Het
Rai1 G A 11: 60,080,165 (GRCm39) A1410T probably benign Het
Rint1 T A 5: 24,005,721 (GRCm39) H134Q possibly damaging Het
Rnf170 A G 8: 26,619,243 (GRCm39) S156G unknown Het
Rtf1 A G 2: 119,535,986 (GRCm39) D180G possibly damaging Het
Sectm1a G T 11: 120,960,490 (GRCm39) D108E probably damaging Het
Senp7 T A 16: 55,944,277 (GRCm39) D200E probably damaging Het
Sfswap A G 5: 129,616,848 (GRCm39) S431G probably benign Het
Sh3bp4 T A 1: 89,073,472 (GRCm39) D773E probably damaging Het
Shprh T C 10: 11,089,248 (GRCm39) L1662P probably damaging Het
Slx4 G T 16: 3,804,328 (GRCm39) P829T possibly damaging Het
Snapc4 A T 2: 26,268,533 (GRCm39) S43T probably damaging Het
Ssh3 C T 19: 4,312,437 (GRCm39) R636Q probably benign Het
Strn4 G A 7: 16,572,496 (GRCm39) V679M probably damaging Het
Tas2r121 T G 6: 132,677,765 (GRCm39) Y69S probably benign Het
Tcerg1 C T 18: 42,663,836 (GRCm39) T341M unknown Het
Tjp2 A C 19: 24,078,207 (GRCm39) S895R probably damaging Het
Tmem220 G T 11: 66,916,086 (GRCm39) A28S probably damaging Het
Trdv1 G A 14: 54,119,663 (GRCm39) C109Y probably damaging Het
Trpc6 A G 9: 8,634,190 (GRCm39) Y423C probably damaging Het
Ttn T C 2: 76,625,027 (GRCm39) M15184V possibly damaging Het
Ugt2b37 T A 5: 87,390,802 (GRCm39) Y355F probably benign Het
Vnn3 C T 10: 23,745,454 (GRCm39) R468* probably null Het
Washc5 T A 15: 59,217,192 (GRCm39) T792S probably benign Het
Wdfy4 T C 14: 32,847,893 (GRCm39) M820V Het
Zfp961 T A 8: 72,721,933 (GRCm39) C149S possibly damaging Het
Zmat4 G A 8: 24,238,507 (GRCm39) V30M probably damaging Het
Other mutations in Cyp4v3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Cyp4v3 APN 8 45,760,040 (GRCm39) missense probably benign 0.04
IGL00503:Cyp4v3 APN 8 45,760,058 (GRCm39) missense probably damaging 0.98
IGL00757:Cyp4v3 APN 8 45,773,652 (GRCm39) missense probably damaging 0.98
IGL02375:Cyp4v3 APN 8 45,761,411 (GRCm39) splice site probably null
IGL02565:Cyp4v3 APN 8 45,773,674 (GRCm39) missense possibly damaging 0.63
IGL02881:Cyp4v3 APN 8 45,761,753 (GRCm39) missense probably damaging 1.00
R0745:Cyp4v3 UTSW 8 45,761,688 (GRCm39) unclassified probably benign
R1818:Cyp4v3 UTSW 8 45,768,673 (GRCm39) missense possibly damaging 0.77
R1819:Cyp4v3 UTSW 8 45,768,673 (GRCm39) missense possibly damaging 0.77
R1902:Cyp4v3 UTSW 8 45,759,989 (GRCm39) missense probably benign 0.00
R2426:Cyp4v3 UTSW 8 45,770,813 (GRCm39) missense probably benign
R3747:Cyp4v3 UTSW 8 45,768,745 (GRCm39) nonsense probably null
R3748:Cyp4v3 UTSW 8 45,768,745 (GRCm39) nonsense probably null
R3750:Cyp4v3 UTSW 8 45,768,745 (GRCm39) nonsense probably null
R4289:Cyp4v3 UTSW 8 45,781,260 (GRCm39) missense possibly damaging 0.46
R4569:Cyp4v3 UTSW 8 45,760,029 (GRCm39) missense probably damaging 1.00
R4960:Cyp4v3 UTSW 8 45,773,674 (GRCm39) missense possibly damaging 0.63
R5260:Cyp4v3 UTSW 8 45,760,017 (GRCm39) missense probably damaging 1.00
R5479:Cyp4v3 UTSW 8 45,763,243 (GRCm39) missense probably benign 0.00
R5667:Cyp4v3 UTSW 8 45,761,572 (GRCm39) missense possibly damaging 0.94
R5940:Cyp4v3 UTSW 8 45,774,821 (GRCm39) missense probably damaging 1.00
R6102:Cyp4v3 UTSW 8 45,773,197 (GRCm39) missense probably damaging 1.00
R6470:Cyp4v3 UTSW 8 45,770,773 (GRCm39) nonsense probably null
R6592:Cyp4v3 UTSW 8 45,760,018 (GRCm39) missense probably benign 0.02
R6700:Cyp4v3 UTSW 8 45,760,130 (GRCm39) missense probably damaging 1.00
R7027:Cyp4v3 UTSW 8 45,763,289 (GRCm39) missense possibly damaging 0.93
R7341:Cyp4v3 UTSW 8 45,774,787 (GRCm39) missense probably benign 0.01
R7966:Cyp4v3 UTSW 8 45,785,954 (GRCm39) missense probably benign 0.44
R8331:Cyp4v3 UTSW 8 45,768,745 (GRCm39) nonsense probably null
R8886:Cyp4v3 UTSW 8 45,774,785 (GRCm39) nonsense probably null
R8955:Cyp4v3 UTSW 8 45,761,564 (GRCm39) missense probably benign 0.00
R8957:Cyp4v3 UTSW 8 45,760,018 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GTTTGTCCTACCCATGGAATCTTG -3'
(R):5'- TGGCTACACAGAGGGCATTG -3'

Sequencing Primer
(F):5'- TGGAATCTTGTTTTCTAGTTAAGCC -3'
(R):5'- GGGCATTGGTGAAAATATCCTATTCG -3'
Posted On 2022-10-06