Incidental Mutation 'PIT1430001:Cyb5r4'
ID 499884
Institutional Source Beutler Lab
Gene Symbol Cyb5r4
Ensembl Gene ENSMUSG00000032872
Gene Name cytochrome b5 reductase 4
Synonyms Ncb5or, 2810034J18Rik, B5+B5R, b5/b5r
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT1430001 (G1)
Quality Score 100
Status Validated
Chromosome 9
Chromosomal Location 86904082-86959827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86920791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 142 (G142E)
Ref Sequence ENSEMBL: ENSMUSP00000126119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168529]
AlphaFold Q3TDX8
Predicted Effect probably benign
Transcript: ENSMUST00000168529
AA Change: G142E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126119
Gene: ENSMUSG00000032872
AA Change: G142E

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 noncoding transcript
Transcript: ENSMUST00000174540
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: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (136/137)
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: 139 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,207,160 (GRCm39) I524F possibly damaging Het
4930511M06Rik T C 18: 57,517,241 (GRCm39) probably benign Het
9330159F19Rik T A 10: 29,100,711 (GRCm39) N361K probably damaging Het
Adgra2 A G 8: 27,604,216 (GRCm39) M469V possibly damaging Het
Akap9 A G 5: 4,079,849 (GRCm39) D1867G probably damaging Het
Ankrd17 T C 5: 90,400,832 (GRCm39) T1687A possibly damaging Het
Ap1m2 G A 9: 21,209,548 (GRCm39) P376L probably damaging Het
Bicc1 A G 10: 70,793,511 (GRCm39) S196P possibly damaging Het
Cacnb2 C T 2: 14,976,412 (GRCm39) R228* probably null Het
Ccdc43 A G 11: 102,582,976 (GRCm39) S83P probably damaging Het
Cdc42bpg T A 19: 6,372,582 (GRCm39) probably null Het
Cdh16 C A 8: 105,344,271 (GRCm39) M89I probably benign Het
Cecr2 A C 6: 120,735,440 (GRCm39) H892P probably benign Het
Chd5 T A 4: 152,455,094 (GRCm39) S859T probably damaging Het
Chrd G A 16: 20,557,748 (GRCm39) probably null Het
Chrna2 T A 14: 66,387,186 (GRCm39) L444Q probably benign Het
Ckap4 A G 10: 84,363,630 (GRCm39) S478P probably damaging Het
Cldn4 A T 5: 134,975,514 (GRCm39) M29K possibly damaging Het
Clpb T C 7: 101,435,926 (GRCm39) V615A possibly damaging Het
Cyp1a1 A G 9: 57,608,194 (GRCm39) Y274C probably benign Het
D2hgdh T C 1: 93,754,001 (GRCm39) probably benign Het
Dgkh T A 14: 78,818,953 (GRCm39) E919V probably damaging Het
Dnah1 A G 14: 30,984,537 (GRCm39) Y3916H probably damaging Het
Dpp10 A G 1: 123,268,911 (GRCm39) probably benign Het
Dync2i2 T C 2: 29,922,147 (GRCm39) Y438C probably damaging Het
Egfr A G 11: 16,860,214 (GRCm39) T1043A probably benign Het
Elp5 T G 11: 69,857,935 (GRCm39) probably null Het
Emilin3 A T 2: 160,750,402 (GRCm39) M449K possibly damaging Het
Epb41l4a T G 18: 33,930,400 (GRCm39) T686P probably damaging Het
Eppk1 A G 15: 76,105,236 (GRCm38) C2482R probably benign Het
Eps8l3 T C 3: 107,792,183 (GRCm39) L370P probably damaging Het
Erbin A T 13: 103,996,017 (GRCm39) S228R probably damaging Het
Fam149a C T 8: 45,804,743 (GRCm39) E280K probably benign Het
Fam78b T C 1: 166,829,313 (GRCm39) I60T probably benign Het
Fank1 A T 7: 133,478,529 (GRCm39) R197* probably null Het
Fbxo21 C T 5: 118,115,931 (GRCm39) S83F possibly damaging Het
Fbxo4 G C 15: 4,008,782 (GRCm39) T42R probably benign Het
Fhad1 C G 4: 141,637,060 (GRCm39) E1135D probably damaging Het
Fmo1 T A 1: 162,657,622 (GRCm39) E506D probably benign Het
Glipr1l2 A T 10: 111,942,745 (GRCm39) T231S probably benign Het
Gm11651 C G 11: 105,863,917 (GRCm39) probably benign Het
Gm16043 A G 6: 8,426,969 (GRCm39) probably null Het
Gm572 T G 4: 148,755,850 (GRCm39) W389G unknown Het
Gpc6 G A 14: 118,188,594 (GRCm39) W409* probably null Het
Gpr155 T C 2: 73,200,482 (GRCm39) T342A probably benign Het
Hcn4 A C 9: 58,766,833 (GRCm39) H798P unknown Het
Herc2 T C 7: 55,876,702 (GRCm39) S4513P probably damaging Het
Hmcn1 G A 1: 150,684,488 (GRCm39) R361C probably benign Het
Hoxa4 G T 6: 52,168,199 (GRCm39) P157Q possibly damaging Het
Ift122 A C 6: 115,902,705 (GRCm39) probably benign Het
Igfbpl1 G A 4: 45,826,756 (GRCm39) S13L unknown Het
Igsf10 T C 3: 59,235,579 (GRCm39) D1534G probably benign Het
Il1rap T G 16: 26,529,343 (GRCm39) L339V possibly damaging Het
Irf2bpl C T 12: 86,930,229 (GRCm39) R148H possibly damaging Het
Ivns1abp A T 1: 151,237,356 (GRCm39) R58W probably damaging Het
Kcnq5 C T 1: 21,605,405 (GRCm39) V167M probably damaging Het
Lrrcc1 G A 3: 14,610,656 (GRCm39) C337Y probably damaging Het
Lrriq3 A G 3: 154,804,507 (GRCm39) I56V probably benign Het
Masp1 C A 16: 23,332,694 (GRCm39) S47I probably damaging Het
Mcm7 A T 5: 138,165,708 (GRCm39) probably benign Het
Mdm2 G T 10: 117,530,840 (GRCm39) S210R probably damaging Het
Mical1 A G 10: 41,359,492 (GRCm39) R500G possibly damaging Het
Mtarc1 T G 1: 184,539,246 (GRCm39) T37P probably benign Het
Myc A C 15: 61,859,542 (GRCm39) T73P probably damaging Het
Myh15 G A 16: 49,017,254 (GRCm39) probably null Het
Myh4 A G 11: 67,149,658 (GRCm39) M1768V probably benign Het
Nap1l1 T C 10: 111,322,597 (GRCm39) Y66H probably damaging Het
Ncoa1 C T 12: 4,373,005 (GRCm39) R132K probably benign Het
Nfatc3 C T 8: 106,786,605 (GRCm39) S28F possibly damaging Het
Nhlrc3 T A 3: 53,361,050 (GRCm39) K235M probably damaging Het
Nrk G A X: 137,879,463 (GRCm39) E757K probably damaging Het
Obsl1 G A 1: 75,482,811 (GRCm39) P20S probably damaging Het
P2rx7 C T 5: 122,819,279 (GRCm39) A567V probably damaging Het
Pate9 A T 9: 36,446,295 (GRCm39) L39* probably null Het
Pcdhb15 G A 18: 37,608,724 (GRCm39) R652H probably benign Het
Pcdhga4 T C 18: 37,819,267 (GRCm39) V272A probably benign Het
Pcdhgb1 T G 18: 37,814,472 (GRCm39) V321G probably damaging Het
Pde2a C G 7: 101,100,684 (GRCm39) probably benign Het
Pdhb C T 14: 8,170,425 (GRCm38) E109K probably damaging Het
Pkd1 C A 17: 24,788,485 (GRCm39) L748M probably damaging Het
Pkd2 A T 5: 104,607,654 (GRCm39) E51V probably damaging Het
Pkdrej A G 15: 85,705,493 (GRCm39) Y148H probably damaging Het
Polr3gl C G 3: 96,488,228 (GRCm39) probably benign Het
Ppfia1 A T 7: 144,052,073 (GRCm39) L882Q probably damaging Het
Ppp4r3b G T 11: 29,159,434 (GRCm39) R596L probably benign Het
Ppp6r3 G A 19: 3,521,059 (GRCm39) Q85* probably null Het
Prss8 A G 7: 127,521,424 (GRCm39) probably benign Het
Qng1 T A 13: 58,532,827 (GRCm39) K48* probably null Het
Rab22a A G 2: 173,536,963 (GRCm39) I87V probably benign Het
Rev1 A C 1: 38,095,337 (GRCm39) probably benign Het
Rnase13 A G 14: 52,159,987 (GRCm39) Y51H probably damaging Het
Rnf26 T C 9: 44,023,942 (GRCm39) H102R probably damaging Het
Rnf5 T C 17: 34,822,341 (GRCm39) E36G probably damaging Het
Rplp1 T G 9: 61,821,658 (GRCm39) D18A probably benign Het
Rrs1 C A 1: 9,616,150 (GRCm39) D134E probably damaging Het
Sec14l1 A G 11: 117,034,629 (GRCm39) Y166C probably damaging Het
Sec14l2 A T 11: 4,059,209 (GRCm39) Y153* probably null Het
Senp1 A G 15: 97,982,870 (GRCm39) L39P probably damaging Het
Senp2 T A 16: 21,832,864 (GRCm39) probably benign Het
Sh3bp1 G A 15: 78,798,224 (GRCm39) A19T probably benign Het
Sis G A 3: 72,830,162 (GRCm39) P1130S probably damaging Het
Slc16a12 C T 19: 34,654,759 (GRCm39) A95T possibly damaging Het
Slc22a4 A G 11: 53,918,783 (GRCm39) V7A probably benign Het
Slc35c2 C T 2: 165,119,452 (GRCm39) S296N probably benign Het
Slf1 A G 13: 77,198,169 (GRCm39) probably benign Het
Slitrk6 A T 14: 110,987,859 (GRCm39) V616E possibly damaging Het
Smarca2 T A 19: 26,626,493 (GRCm39) M439K probably benign Het
Snx29 G A 16: 11,221,488 (GRCm39) A305T probably benign Het
Socs5 C T 17: 87,441,044 (GRCm39) probably benign Het
Spata31d1a G T 13: 59,849,010 (GRCm39) H1039Q probably benign Het
Srgap1 G A 10: 121,732,658 (GRCm39) probably benign Het
Synj1 A T 16: 90,761,396 (GRCm39) I650N probably damaging Het
Tac4 A C 11: 95,158,190 (GRCm39) probably benign Het
Tbck A C 3: 132,428,487 (GRCm39) T281P probably benign Het
Tbx22 T C X: 106,720,611 (GRCm39) L62P probably damaging Het
Terf2 G C 8: 107,822,934 (GRCm39) R70G probably damaging Het
Tfdp1 C T 8: 13,422,526 (GRCm39) P138S probably benign Het
Tigd2 T C 6: 59,188,233 (GRCm39) Y367H probably damaging Het
Tmprss15 A T 16: 78,821,640 (GRCm39) probably null Het
Tmprss6 C T 15: 78,324,827 (GRCm39) G741D probably damaging Het
Tnrc6b A C 15: 80,813,387 (GRCm39) T1715P probably damaging Het
Tpcn1 T C 5: 120,686,388 (GRCm39) probably benign Het
Trappc2l T C 8: 123,339,874 (GRCm39) S35P probably damaging Het
Trim63 T C 4: 134,048,484 (GRCm39) probably benign Het
Trim66 G T 7: 109,074,454 (GRCm39) D602E probably damaging Het
Trp53bp1 G A 2: 121,101,756 (GRCm39) P2S probably damaging Het
Tspan14 A G 14: 40,637,488 (GRCm39) L100P probably damaging Het
Tspan15 C T 10: 62,023,899 (GRCm39) E260K probably damaging Het
Ubxn10 T C 4: 138,448,199 (GRCm39) D159G probably benign Het
Unc5a T G 13: 55,151,709 (GRCm39) V713G probably damaging Het
Usp16 C T 16: 87,270,020 (GRCm39) A324V probably damaging Het
Uvssa G A 5: 33,559,914 (GRCm39) R422Q possibly damaging Het
Wipf1 A C 2: 73,267,946 (GRCm39) F151V probably damaging Het
Xpo1 A T 11: 23,226,437 (GRCm39) K104N possibly damaging Het
Ybx3 T C 6: 131,356,422 (GRCm39) T150A probably damaging Het
Yju2 C T 17: 56,271,479 (GRCm39) probably benign Het
Zap70 T A 1: 36,818,250 (GRCm39) S312R possibly damaging Het
Zfp534 T G 4: 147,759,880 (GRCm39) K263T probably benign Het
Zfp534 T G 4: 147,759,917 (GRCm39) N251H probably benign 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
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
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
Posted On 2017-11-21