Incidental Mutation 'R5038:Cyb5r4'
ID 393120
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 042628-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5038 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 86904082-86959827 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 86941130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168529] [ENSMUST00000174294]
AlphaFold Q3TDX8
Predicted Effect probably null
Transcript: ENSMUST00000168529
SMART Domains Protein: ENSMUSP00000126119
Gene: ENSMUSG00000032872

DomainStartEndE-ValueType
low complexity region 13 24 N/A INTRINSIC
Cyt-b5 57 130 2.56e-26 SMART
Pfam:CS 175 253 4.1e-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
Meta Mutation Damage Score 0.9480 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 94% (64/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930512M02Rik A T 11: 11,539,375 (GRCm39) probably null Het
Abtb2 G T 2: 103,397,408 (GRCm39) G113C probably damaging Het
Acsm5 A G 7: 119,134,034 (GRCm39) T272A probably damaging Het
Adprs C T 4: 126,211,102 (GRCm39) E272K possibly damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
Atp7b A C 8: 22,518,472 (GRCm39) I122S possibly damaging Het
B230219D22Rik T C 13: 55,847,288 (GRCm39) Y134H probably damaging Het
Bnc1 A G 7: 81,618,462 (GRCm39) S868P probably damaging Het
Camta1 T C 4: 151,229,926 (GRCm39) E302G probably damaging Het
Car1 A G 3: 14,835,933 (GRCm39) Y129H probably damaging Het
Cdh22 T C 2: 164,984,197 (GRCm39) T352A probably benign Het
Ckmt2 T C 13: 92,009,282 (GRCm39) E215G probably benign Het
Dhrs13 A G 11: 77,923,256 (GRCm39) probably benign Het
Dsg1c G A 18: 20,397,901 (GRCm39) A34T probably benign Het
Epb41l1 T C 2: 156,363,330 (GRCm39) V613A probably benign Het
Fam114a1 A G 5: 65,166,388 (GRCm39) M240V probably damaging Het
Gm15455 T C 1: 33,877,257 (GRCm39) noncoding transcript Het
Herc1 T G 9: 66,383,742 (GRCm39) probably benign Het
Ifna11 T C 4: 88,738,314 (GRCm39) V40A probably benign Het
Ifna15 T C 4: 88,476,266 (GRCm39) N73D probably benign Het
Imp4 A T 1: 34,482,016 (GRCm39) L45F probably damaging Het
Jak3 G A 8: 72,138,702 (GRCm39) A967T probably damaging Het
Krtap19-2 A T 16: 88,670,916 (GRCm39) Y76* probably null Het
Map4k5 A T 12: 69,871,388 (GRCm39) N492K probably damaging Het
Mycbp2 C T 14: 103,534,375 (GRCm39) R372H probably damaging Het
Nos2 G A 11: 78,813,140 (GRCm39) S16N probably benign Het
Nr2c2 A G 6: 92,116,803 (GRCm39) T2A probably damaging Het
Nup188 T C 2: 30,199,232 (GRCm39) Y267H probably damaging Het
Nxph2 G A 2: 23,211,556 (GRCm39) probably null Het
Or5b107 T A 19: 13,142,955 (GRCm39) D192E probably benign Het
Or5b96 T A 19: 12,867,770 (GRCm39) H57L probably damaging Het
Or9i1b T A 19: 13,896,822 (GRCm39) V146E possibly damaging Het
Otof C T 5: 30,541,783 (GRCm39) E761K possibly damaging Het
Pik3r1 C T 13: 101,825,952 (GRCm39) R37Q probably damaging Het
Pkn3 T C 2: 29,975,293 (GRCm39) probably null Het
Pold3 A G 7: 99,770,590 (GRCm39) V14A probably damaging Het
Ptpn14 T C 1: 189,519,083 (GRCm39) S38P probably damaging Het
Raf1 G A 6: 115,597,196 (GRCm39) Q35* probably null Het
Rps3a1 C A 3: 86,045,338 (GRCm39) E251D probably benign Het
Scd1 C T 19: 44,390,148 (GRCm39) V207M probably damaging Het
Shq1 A G 6: 100,607,954 (GRCm39) V319A probably benign Het
Slc4a8 T C 15: 100,693,702 (GRCm39) Y416H probably damaging Het
Slco1a5 T C 6: 142,208,363 (GRCm39) T143A probably benign Het
Slco1a5 C T 6: 142,212,090 (GRCm39) G90D probably damaging Het
Snx9 T C 17: 5,937,348 (GRCm39) V30A probably benign Het
Spdya T C 17: 71,895,561 (GRCm39) probably benign Het
Stat1 A T 1: 52,162,368 (GRCm39) N75I probably damaging Het
Sv2b A T 7: 74,807,173 (GRCm39) M159K probably damaging Het
Tdh A T 14: 63,733,575 (GRCm39) Y89* probably null Het
Tmc7 A G 7: 118,142,588 (GRCm39) F600S probably damaging Het
Trpa1 T A 1: 14,981,090 (GRCm39) H104L probably damaging Het
Ttn G A 2: 76,678,984 (GRCm39) probably benign Het
Vmn1r113 A G 7: 20,521,419 (GRCm39) I70M possibly damaging Het
Vmn1r171 A G 7: 23,332,188 (GRCm39) M138V probably benign Het
Zfc3h1 G A 10: 115,240,116 (GRCm39) V550I probably benign Het
Zfp335 G T 2: 164,752,564 (GRCm39) S60* probably null Het
Zfp7 T C 15: 76,776,010 (GRCm39) M684T probably benign Het
Zfp984 T A 4: 147,839,903 (GRCm39) H316L probably damaging Het
Zmym2 T A 14: 57,193,637 (GRCm39) Y1151N possibly 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
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
R5926:Cyb5r4 UTSW 9 86,939,314 (GRCm39) missense probably benign 0.04
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'- TCCTACTACAGAGATGGACGGG -3'
(R):5'- AGGTAACGCAAATAATGAAACCCTG -3'

Sequencing Primer
(F):5'- ATGGACGGGGCAGTCAC -3'
(R):5'- GAAATGAGATCAAAGCACTACGTTC -3'
Posted On 2016-06-15