Incidental Mutation 'R5926:Cyb5r4'
ID 459902
Institutional Source Beutler Lab
Gene Symbol Cyb5r4
Ensembl Gene ENSMUSG00000032872
Gene Name cytochrome b5 reductase 4
Synonyms Ncb5or, 2810034J18Rik, B5+B5R, b5/b5r
MMRRC Submission 044121-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5926 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 86904082-86959827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86939314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 366 (L366F)
Ref Sequence ENSEMBL: ENSMUSP00000126119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168529] [ENSMUST00000174294]
AlphaFold Q3TDX8
Predicted Effect probably benign
Transcript: ENSMUST00000168529
AA Change: L366F

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000126119
Gene: ENSMUSG00000032872
AA Change: L366F

DomainStartEndE-ValueType
low complexity region 13 24 N/A INTRINSIC
Cyt-b5 57 130 2.56e-26 SMART
Pfam:CS 175 253 4.1e-16 PFAM
Pfam:FAD_binding_6 284 391 4.1e-22 PFAM
Pfam:NAD_binding_1 402 508 4.7e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174043
Predicted Effect probably benign
Transcript: ENSMUST00000174294
SMART Domains Protein: ENSMUSP00000133918
Gene: ENSMUSG00000032872

DomainStartEndE-ValueType
Pfam:NAD_binding_6 16 89 8.7e-8 PFAM
Pfam:NAD_binding_1 21 88 1.7e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174724
SMART Domains Protein: ENSMUSP00000133556
Gene: ENSMUSG00000032872

DomainStartEndE-ValueType
low complexity region 13 24 N/A INTRINSIC
Cyt-b5 57 130 2.56e-26 SMART
Pfam:CS 175 253 4.2e-16 PFAM
Pfam:FAD_binding_6 284 391 1.7e-22 PFAM
Pfam:NAD_binding_1 402 509 3.9e-17 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010]
PHENOTYPE: Homozygous null mice exhibit defects in glucose homeostasis and pancreatic abnormalities consistent with symptoms of diabetes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,537,608 (GRCm39) Y701F probably benign Het
Abra T A 15: 41,729,650 (GRCm39) H250L probably damaging Het
Acer2 T C 4: 86,792,805 (GRCm39) V27A probably benign Het
Arhgef15 A G 11: 68,842,781 (GRCm39) L343S possibly damaging Het
Arnt2 G T 7: 83,993,154 (GRCm39) H129N probably damaging Het
Atp9a T A 2: 168,548,191 (GRCm39) Y63F probably damaging Het
Brca2 A G 5: 150,458,087 (GRCm39) T213A probably benign Het
Cdk5r1 T C 11: 80,369,128 (GRCm39) probably null Het
Cyp20a1 T A 1: 60,402,401 (GRCm39) I162K possibly damaging Het
Dcaf1 T C 9: 106,715,561 (GRCm39) V226A probably benign Het
Ddx41 A T 13: 55,682,112 (GRCm39) M232K probably damaging Het
Dnm1 C T 2: 32,205,816 (GRCm39) V99I probably benign Het
Doc2a T C 7: 126,448,697 (GRCm39) V134A probably damaging Het
Ghdc C T 11: 100,659,063 (GRCm39) V380M possibly damaging Het
Gldn A G 9: 54,245,722 (GRCm39) I424M possibly damaging Het
Haus6 A T 4: 86,517,553 (GRCm39) H270Q probably benign Het
Hfe A T 13: 23,892,247 (GRCm39) M39K probably damaging Het
Jakmip1 C T 5: 37,242,624 (GRCm39) probably benign Het
Kcnb2 A G 1: 15,383,235 (GRCm39) N187S probably benign Het
Kcnd2 A G 6: 21,217,084 (GRCm39) S263G probably damaging Het
Kcnh1 A G 1: 192,095,385 (GRCm39) N481S probably benign Het
Kcnn2 A G 18: 45,818,351 (GRCm39) I343V probably benign Het
L3hypdh T A 12: 72,123,959 (GRCm39) S300C probably damaging Het
Lrit1 T A 14: 36,776,966 (GRCm39) C29S probably damaging Het
Mark3 T A 12: 111,559,168 (GRCm39) V70E probably damaging Het
Med16 C T 10: 79,738,362 (GRCm39) V319M probably damaging Het
Mindy3 T C 2: 12,352,911 (GRCm39) Y430C probably damaging Het
Mup5 A T 4: 61,751,286 (GRCm39) F121I probably benign Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Notch1 A G 2: 26,366,116 (GRCm39) Y813H probably benign Het
Or10a3m T C 7: 108,312,794 (GRCm39) L66S probably damaging Het
Or5p53 T C 7: 107,533,110 (GRCm39) S128P probably damaging Het
Or6b2b A T 1: 92,419,288 (GRCm39) L63Q probably damaging Het
Pi4kb A G 3: 94,906,307 (GRCm39) Y301C probably damaging Het
Ptch1 A G 13: 63,692,869 (GRCm39) S244P probably benign Het
Ptprn G A 1: 75,231,242 (GRCm39) T554I probably damaging Het
Ptprt T C 2: 161,406,606 (GRCm39) I969V probably benign Het
Raf1 T C 6: 115,596,859 (GRCm39) M519V probably benign Het
Ryr1 A G 7: 28,803,785 (GRCm39) V622A probably damaging Het
Spaca4 G T 7: 45,374,719 (GRCm39) H94Q probably benign Het
Spata31 A G 13: 65,068,539 (GRCm39) D229G possibly damaging Het
Tbx6 G A 7: 126,384,025 (GRCm39) A359T possibly damaging Het
Trpm8 T A 1: 88,258,469 (GRCm39) Y251N probably damaging Het
Vps16 T A 2: 130,285,476 (GRCm39) N806K probably damaging Het
Vwf T C 6: 125,581,137 (GRCm39) F592L probably damaging Het
Other mutations in Cyb5r4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01833:Cyb5r4 APN 9 86,941,505 (GRCm39) critical splice donor site probably null
cello UTSW 9 86,911,591 (GRCm39) nonsense probably null
viol UTSW 9 86,941,130 (GRCm39) critical splice donor site probably null
PIT1430001:Cyb5r4 UTSW 9 86,920,791 (GRCm39) missense probably benign
R0040:Cyb5r4 UTSW 9 86,948,795 (GRCm39) splice site probably null
R0373:Cyb5r4 UTSW 9 86,909,093 (GRCm39) missense probably damaging 0.99
R0755:Cyb5r4 UTSW 9 86,911,625 (GRCm39) missense probably damaging 1.00
R1381:Cyb5r4 UTSW 9 86,904,286 (GRCm39) missense probably benign 0.03
R1488:Cyb5r4 UTSW 9 86,911,591 (GRCm39) nonsense probably null
R1510:Cyb5r4 UTSW 9 86,948,696 (GRCm39) intron probably benign
R1856:Cyb5r4 UTSW 9 86,904,262 (GRCm39) missense possibly damaging 0.61
R1857:Cyb5r4 UTSW 9 86,923,332 (GRCm39) missense probably benign 0.00
R1858:Cyb5r4 UTSW 9 86,923,332 (GRCm39) missense probably benign 0.00
R1870:Cyb5r4 UTSW 9 86,922,462 (GRCm39) missense probably benign 0.00
R1876:Cyb5r4 UTSW 9 86,937,867 (GRCm39) missense probably damaging 1.00
R1959:Cyb5r4 UTSW 9 86,937,902 (GRCm39) missense possibly damaging 0.82
R2036:Cyb5r4 UTSW 9 86,924,932 (GRCm39) splice site probably benign
R2895:Cyb5r4 UTSW 9 86,922,452 (GRCm39) nonsense probably null
R4226:Cyb5r4 UTSW 9 86,939,282 (GRCm39) missense probably damaging 0.99
R4655:Cyb5r4 UTSW 9 86,941,482 (GRCm39) missense probably benign 0.01
R4971:Cyb5r4 UTSW 9 86,939,224 (GRCm39) missense possibly damaging 0.80
R5038:Cyb5r4 UTSW 9 86,941,130 (GRCm39) critical splice donor site probably null
R5155:Cyb5r4 UTSW 9 86,922,456 (GRCm39) missense probably benign 0.08
R5187:Cyb5r4 UTSW 9 86,909,001 (GRCm39) missense possibly damaging 0.92
R5654:Cyb5r4 UTSW 9 86,929,533 (GRCm39) missense probably damaging 0.98
R5659:Cyb5r4 UTSW 9 86,937,881 (GRCm39) missense probably benign 0.22
R6083:Cyb5r4 UTSW 9 86,939,221 (GRCm39) missense probably damaging 1.00
R6610:Cyb5r4 UTSW 9 86,941,470 (GRCm39) missense probably benign
R7311:Cyb5r4 UTSW 9 86,937,835 (GRCm39) missense probably damaging 1.00
R7662:Cyb5r4 UTSW 9 86,909,091 (GRCm39) missense possibly damaging 0.83
R7748:Cyb5r4 UTSW 9 86,914,434 (GRCm39) missense probably damaging 1.00
R8171:Cyb5r4 UTSW 9 86,924,863 (GRCm39) missense possibly damaging 0.81
R8253:Cyb5r4 UTSW 9 86,941,108 (GRCm39) missense probably damaging 1.00
R8369:Cyb5r4 UTSW 9 86,922,486 (GRCm39) missense probably benign 0.00
R8816:Cyb5r4 UTSW 9 86,904,286 (GRCm39) missense probably benign 0.31
RF001:Cyb5r4 UTSW 9 86,922,469 (GRCm39) small insertion probably benign
RF006:Cyb5r4 UTSW 9 86,922,478 (GRCm39) small insertion probably benign
RF006:Cyb5r4 UTSW 9 86,922,494 (GRCm39) small insertion probably benign
RF013:Cyb5r4 UTSW 9 86,922,485 (GRCm39) small insertion probably benign
RF014:Cyb5r4 UTSW 9 86,922,468 (GRCm39) small insertion probably benign
RF015:Cyb5r4 UTSW 9 86,922,491 (GRCm39) small insertion probably benign
RF015:Cyb5r4 UTSW 9 86,922,485 (GRCm39) small insertion probably benign
RF016:Cyb5r4 UTSW 9 86,922,497 (GRCm39) small insertion probably benign
RF016:Cyb5r4 UTSW 9 86,922,494 (GRCm39) small insertion probably benign
RF016:Cyb5r4 UTSW 9 86,922,478 (GRCm39) small insertion probably benign
RF024:Cyb5r4 UTSW 9 86,922,488 (GRCm39) small insertion probably benign
RF025:Cyb5r4 UTSW 9 86,922,497 (GRCm39) small insertion probably benign
RF026:Cyb5r4 UTSW 9 86,922,486 (GRCm39) small insertion probably benign
RF027:Cyb5r4 UTSW 9 86,922,484 (GRCm39) small insertion probably benign
RF029:Cyb5r4 UTSW 9 86,922,495 (GRCm39) small insertion probably benign
RF029:Cyb5r4 UTSW 9 86,922,483 (GRCm39) small insertion probably benign
RF030:Cyb5r4 UTSW 9 86,922,468 (GRCm39) small insertion probably benign
RF030:Cyb5r4 UTSW 9 86,922,462 (GRCm39) small insertion probably benign
RF031:Cyb5r4 UTSW 9 86,922,498 (GRCm39) small insertion probably benign
RF032:Cyb5r4 UTSW 9 86,922,466 (GRCm39) small insertion probably benign
RF034:Cyb5r4 UTSW 9 86,922,500 (GRCm39) nonsense probably null
RF034:Cyb5r4 UTSW 9 86,922,470 (GRCm39) small insertion probably benign
RF036:Cyb5r4 UTSW 9 86,922,483 (GRCm39) small insertion probably benign
RF038:Cyb5r4 UTSW 9 86,922,495 (GRCm39) small insertion probably benign
RF040:Cyb5r4 UTSW 9 86,922,462 (GRCm39) small insertion probably benign
RF043:Cyb5r4 UTSW 9 86,922,484 (GRCm39) small insertion probably benign
RF043:Cyb5r4 UTSW 9 86,922,464 (GRCm39) small insertion probably benign
RF045:Cyb5r4 UTSW 9 86,922,500 (GRCm39) small insertion probably benign
RF045:Cyb5r4 UTSW 9 86,922,455 (GRCm39) nonsense probably null
RF052:Cyb5r4 UTSW 9 86,922,475 (GRCm39) small insertion probably benign
RF053:Cyb5r4 UTSW 9 86,922,475 (GRCm39) small insertion probably benign
RF055:Cyb5r4 UTSW 9 86,922,491 (GRCm39) small insertion probably benign
RF055:Cyb5r4 UTSW 9 86,922,467 (GRCm39) small insertion probably benign
RF056:Cyb5r4 UTSW 9 86,922,463 (GRCm39) small insertion probably benign
RF059:Cyb5r4 UTSW 9 86,922,498 (GRCm39) small insertion probably benign
RF060:Cyb5r4 UTSW 9 86,922,466 (GRCm39) small insertion probably benign
RF061:Cyb5r4 UTSW 9 86,922,488 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- TGCACACACTGATGGCATCC -3'
(R):5'- CAGGGAATGAGCAAGTGTCC -3'

Sequencing Primer
(F):5'- CACACTGATGGCATCCTAAGATTTG -3'
(R):5'- TGTCCAGAGAAGGGCACAGATG -3'
Posted On 2017-02-28