Incidental Mutation 'IGL02070:Cyb5r2'
ID 185791
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyb5r2
Ensembl Gene ENSMUSG00000048065
Gene Name cytochrome b5 reductase 2
Synonyms D630003K02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02070
Quality Score
Status
Chromosome 7
Chromosomal Location 107347662-107357239 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107350394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 213 (T213I)
Ref Sequence ENSEMBL: ENSMUSP00000146504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052438] [ENSMUST00000098134] [ENSMUST00000208159] [ENSMUST00000208217]
AlphaFold Q3KNK3
Predicted Effect probably damaging
Transcript: ENSMUST00000052438
AA Change: T229I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050061
Gene: ENSMUSG00000048065
AA Change: T229I

DomainStartEndE-ValueType
Pfam:FAD_binding_6 19 126 5e-37 PFAM
Pfam:NAD_binding_6 163 242 9.7e-8 PFAM
Pfam:NAD_binding_1 168 276 6.8e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098134
SMART Domains Protein: ENSMUSP00000095738
Gene: ENSMUSG00000036528

DomainStartEndE-ValueType
PDB:3QH9|A 185 265 2e-26 PDB
low complexity region 357 374 N/A INTRINSIC
SAM 550 617 1.86e-12 SMART
SAM 622 688 4.07e-9 SMART
SAM 710 782 9.22e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000208159
Predicted Effect probably damaging
Transcript: ENSMUST00000208217
AA Change: T213I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the flavoprotein pyridine nucleotide cytochrome reductase family of proteins. Cytochrome b-type NAD(P)H oxidoreductases are implicated in many processes including cholesterol biosynthesis, fatty acid desaturation and elongation, and respiratory burst in neutrophils and macrophages. Cytochrome b5 reductases have soluble and membrane-bound forms that are the product of alternative splicing. In animal cells, the membrane-bound form binds to the endoplasmic reticulum, where it is a member of a fatty acid desaturation complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for a targeted allele exhibit normal cATR-induced effects on mitochondria membrane potential during respiratory arrest by rotenone or anoxia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,343,336 (GRCm39) Y204H probably damaging Het
Akap13 C A 7: 75,316,293 (GRCm39) T583K probably benign Het
Alms1 C A 6: 85,628,385 (GRCm39) Q2948K possibly damaging Het
Auts2 C T 5: 131,499,259 (GRCm39) R327Q probably damaging Het
Card14 A C 11: 119,235,530 (GRCm39) E988A probably damaging Het
Ccl25 T C 8: 4,398,700 (GRCm39) probably benign Het
Cttnbp2nl A C 3: 104,918,582 (GRCm39) V86G probably damaging Het
Ear6 A G 14: 52,091,903 (GRCm39) H150R probably damaging Het
Ecm2 T C 13: 49,671,846 (GRCm39) C116R probably damaging Het
Gabrr2 G T 4: 33,095,340 (GRCm39) E385* probably null Het
Hyal5 T A 6: 24,876,961 (GRCm39) V278D probably damaging Het
Mboat1 T C 13: 30,408,380 (GRCm39) L181P probably benign Het
Mdm1 A G 10: 117,982,523 (GRCm39) I53V probably damaging Het
Mfrp T C 9: 44,015,986 (GRCm39) Y368H probably benign Het
Myo1b A G 1: 51,833,496 (GRCm39) V365A probably damaging Het
Nexmif G T X: 103,126,817 (GRCm39) H1509Q probably benign Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Obox6 G A 7: 15,568,804 (GRCm39) S24L probably damaging Het
Optc T A 1: 133,828,914 (GRCm39) I178F probably damaging Het
Or4p22 T A 2: 88,317,346 (GRCm39) I90N probably damaging Het
Or56a42-ps1 G T 7: 104,776,254 (GRCm39) L85I probably benign Het
Pcdh15 T A 10: 74,466,700 (GRCm39) N1535K probably benign Het
Pcdhb19 A T 18: 37,631,597 (GRCm39) N464I probably damaging Het
Pcsk5 C T 19: 17,416,406 (GRCm39) V1681I probably benign Het
Phf8-ps T C 17: 33,285,104 (GRCm39) E566G probably damaging Het
Pknox1 T A 17: 31,822,339 (GRCm39) probably benign Het
Ppa2 T C 3: 133,083,623 (GRCm39) F327S probably damaging Het
Rab39b G T X: 74,618,309 (GRCm39) L174M probably damaging Het
Reep5 A T 18: 34,505,526 (GRCm39) Y48* probably null Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sar1a T A 10: 61,520,673 (GRCm39) probably benign Het
Satb1 T A 17: 52,047,095 (GRCm39) D740V probably damaging Het
Sema3f G A 9: 107,569,440 (GRCm39) T128I probably damaging Het
Snx1 A T 9: 66,005,731 (GRCm39) S129R probably damaging Het
Sptb T A 12: 76,652,313 (GRCm39) K1641N possibly damaging Het
Sptbn1 T C 11: 30,095,979 (GRCm39) E305G probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Taar7d A T 10: 23,904,152 (GRCm39) I345F probably benign Het
Tes T C 6: 17,099,779 (GRCm39) L258P probably damaging Het
Trav9-4 A T 14: 53,913,817 (GRCm39) T24S possibly damaging Het
Utp20 A G 10: 88,657,739 (GRCm39) probably benign Het
Vcam1 T A 3: 115,919,646 (GRCm39) T207S probably benign Het
Xkrx T C X: 133,051,311 (GRCm39) S447G probably benign Het
Zfp318 T C 17: 46,707,644 (GRCm39) L234P probably damaging Het
Other mutations in Cyb5r2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1460:Cyb5r2 UTSW 7 107,356,450 (GRCm39) missense probably benign 0.06
R2033:Cyb5r2 UTSW 7 107,356,114 (GRCm39) splice site probably null
R4108:Cyb5r2 UTSW 7 107,353,136 (GRCm39) missense probably damaging 1.00
R4744:Cyb5r2 UTSW 7 107,349,484 (GRCm39) missense possibly damaging 0.47
R6459:Cyb5r2 UTSW 7 107,352,462 (GRCm39) missense possibly damaging 0.49
R7798:Cyb5r2 UTSW 7 107,353,155 (GRCm39) missense possibly damaging 0.93
R9496:Cyb5r2 UTSW 7 107,353,954 (GRCm39) missense probably damaging 1.00
RF011:Cyb5r2 UTSW 7 107,350,375 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07