Incidental Mutation 'IGL02070:Cyb5r2'
ID185791
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyb5r2
Ensembl Gene ENSMUSG00000048065
Gene Namecytochrome b5 reductase 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02070
Quality Score
Status
Chromosome7
Chromosomal Location107748455-107758032 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 107751187 bp
ZygosityHeterozygous
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]
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
4921501E09Rik T C 17: 33,066,130 E566G probably damaging Het
Adgrg6 A G 10: 14,467,592 Y204H probably damaging Het
Akap13 C A 7: 75,666,545 T583K probably benign Het
Alms1 C A 6: 85,651,403 Q2948K possibly damaging Het
Auts2 C T 5: 131,470,421 R327Q probably damaging Het
Card14 A C 11: 119,344,704 E988A probably damaging Het
Ccl25 T C 8: 4,348,700 probably benign Het
Cttnbp2nl A C 3: 105,011,266 V86G probably damaging Het
Ear6 A G 14: 51,854,446 H150R probably damaging Het
Ecm2 T C 13: 49,518,370 C116R probably damaging Het
Gabrr2 G T 4: 33,095,340 E385* probably null Het
Hyal5 T A 6: 24,876,962 V278D probably damaging Het
Mboat1 T C 13: 30,224,397 L181P probably benign Het
Mdm1 A G 10: 118,146,618 I53V probably damaging Het
Mfrp T C 9: 44,104,689 Y368H probably benign Het
Myo1b A G 1: 51,794,337 V365A probably damaging Het
Nexmif G T X: 104,083,211 H1509Q probably benign Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Obox6 G A 7: 15,834,879 S24L probably damaging Het
Olfr1184 T A 2: 88,487,002 I90N probably damaging Het
Olfr682-ps1 G T 7: 105,127,047 L85I probably benign Het
Optc T A 1: 133,901,176 I178F probably damaging Het
Pcdh15 T A 10: 74,630,868 N1535K probably benign Het
Pcdhb19 A T 18: 37,498,544 N464I probably damaging Het
Pcsk5 C T 19: 17,439,042 V1681I probably benign Het
Pknox1 T A 17: 31,603,365 probably benign Het
Ppa2 T C 3: 133,377,862 F327S probably damaging Het
Rab39b G T X: 75,574,703 L174M probably damaging Het
Reep5 A T 18: 34,372,473 Y48* probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sar1a T A 10: 61,684,894 probably benign Het
Satb1 T A 17: 51,740,067 D740V probably damaging Het
Sema3f G A 9: 107,692,241 T128I probably damaging Het
Snx1 A T 9: 66,098,449 S129R probably damaging Het
Sptb T A 12: 76,605,539 K1641N possibly damaging Het
Sptbn1 T C 11: 30,145,979 E305G probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Taar7d A T 10: 24,028,254 I345F probably benign Het
Tes T C 6: 17,099,780 L258P probably damaging Het
Trav9-4 A T 14: 53,676,360 T24S possibly damaging Het
Utp20 A G 10: 88,821,877 probably benign Het
Vcam1 T A 3: 116,125,997 T207S probably benign Het
Xkrx T C X: 134,150,562 S447G probably benign Het
Zfp318 T C 17: 46,396,718 L234P probably damaging Het
Other mutations in Cyb5r2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1460:Cyb5r2 UTSW 7 107757243 missense probably benign 0.06
R2033:Cyb5r2 UTSW 7 107756907 splice site probably null
R4108:Cyb5r2 UTSW 7 107753929 missense probably damaging 1.00
R4744:Cyb5r2 UTSW 7 107750277 missense possibly damaging 0.47
R6459:Cyb5r2 UTSW 7 107753255 missense possibly damaging 0.49
R7798:Cyb5r2 UTSW 7 107753948 missense possibly damaging 0.93
RF011:Cyb5r2 UTSW 7 107751168 missense probably benign 0.00
Posted On2014-05-07