Incidental Mutation 'R7662:Cyb5r4'
ID 591649
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 045737-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7662 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 86904082-86959827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86909091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 56 (E56G)
Ref Sequence ENSEMBL: ENSMUSP00000126119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168529]
AlphaFold Q3TDX8
Predicted Effect possibly damaging
Transcript: ENSMUST00000168529
AA Change: E56G

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126119
Gene: ENSMUSG00000032872
AA Change: E56G

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
Meta Mutation Damage Score 0.0982 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (82/82)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,885,999 (GRCm39) S48L probably benign Het
Abi3bp A G 16: 56,437,686 (GRCm39) probably null Het
Adss1 T A 12: 112,606,172 (GRCm39) V456E probably damaging Het
Aimp1 A T 3: 132,379,827 (GRCm39) V105E probably benign Het
Ankrd6 G A 4: 32,818,694 (GRCm39) R270C probably damaging Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Asb15 T A 6: 24,566,089 (GRCm39) D347E probably benign Het
Axin2 T A 11: 108,833,282 (GRCm39) L489Q possibly damaging Het
Baiap2l1 G A 5: 144,294,700 (GRCm39) probably benign Het
Cdc6 T A 11: 98,801,438 (GRCm39) N194K possibly damaging Het
Cdc6 T C 11: 98,807,836 (GRCm39) L443P probably benign Het
Celf2 C A 2: 6,558,728 (GRCm39) G393C probably damaging Het
Cep290 T A 10: 100,373,665 (GRCm39) M1315K probably benign Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Cntn5 A T 9: 9,661,390 (GRCm39) M887K probably benign Het
Col17a1 T C 19: 47,669,940 (GRCm39) I71V probably benign Het
Crot T C 5: 9,019,072 (GRCm39) M494V probably damaging Het
Ctnna2 A T 6: 77,613,852 (GRCm39) V246D probably damaging Het
Dennd2a A G 6: 39,470,037 (GRCm39) Y552H probably benign Het
Dennd4a A G 9: 64,759,713 (GRCm39) I273V probably damaging Het
Dkk2 A G 3: 131,883,629 (GRCm39) probably null Het
Dnaja2 A C 8: 86,265,905 (GRCm39) D393E probably benign Het
Dscc1 T A 15: 54,939,561 (GRCm39) I461F possibly damaging Het
Dspp A T 5: 104,325,736 (GRCm39) S700C unknown Het
Ect2 T A 3: 27,185,947 (GRCm39) H512L probably damaging Het
Eif1b A G 9: 120,323,277 (GRCm39) T46A possibly damaging Het
Fam114a2 A T 11: 57,398,391 (GRCm39) D182E probably damaging Het
Fez1 C A 9: 36,781,796 (GRCm39) P347H probably damaging Het
Fgd5 G A 6: 92,026,912 (GRCm39) probably null Het
Flad1 T A 3: 89,310,758 (GRCm39) I430F probably damaging Het
Gal3st2b T C 1: 93,868,614 (GRCm39) Y282H probably damaging Het
Gm29106 T A 1: 118,127,137 (GRCm39) N276K possibly damaging Het
Gm36176 C A 10: 77,682,686 (GRCm39) S16Y unknown Het
Gm5624 T C 14: 44,799,390 (GRCm39) R56G possibly damaging Het
Gpatch11 A C 17: 79,146,484 (GRCm39) Q43P probably benign Het
Gtpbp2 A G 17: 46,477,361 (GRCm39) T409A probably benign Het
Hmcn2 T C 2: 31,272,357 (GRCm39) I1279T probably benign Het
Itih3 T A 14: 30,639,287 (GRCm39) N429Y probably benign Het
Lrp5 A G 19: 3,736,353 (GRCm39) probably null Het
Lrrc34 T A 3: 30,697,452 (GRCm39) Y93F probably benign Het
Lypd9 T C 11: 58,338,269 (GRCm39) N41S probably benign Het
Malrd1 T A 2: 15,876,265 (GRCm39) V1404D unknown Het
Med1 T C 11: 98,046,218 (GRCm39) N1526S unknown Het
Myt1l A G 12: 29,876,868 (GRCm39) D173G unknown Het
Nckap1l A T 15: 103,371,012 (GRCm39) H197L probably damaging Het
Nipa1 T C 7: 55,629,372 (GRCm39) E247G probably damaging Het
Nmrk1 A T 19: 18,619,542 (GRCm39) R132* probably null Het
Nrap G T 19: 56,308,715 (GRCm39) A1700E probably benign Het
Odr4 T C 1: 150,258,045 (GRCm39) S197G probably benign Het
Or13p8 T A 4: 118,583,504 (GRCm39) F20Y probably damaging Het
Or8g32 A T 9: 39,305,389 (GRCm39) M98L probably benign Het
Padi6 T C 4: 140,456,306 (GRCm39) T563A probably benign Het
Pcdhb19 G A 18: 37,631,788 (GRCm39) E528K probably damaging Het
Pcnt T C 10: 76,223,356 (GRCm39) D1942G probably benign Het
Pcnx2 C T 8: 126,545,510 (GRCm39) W1167* probably null Het
Pkp3 C T 7: 140,658,292 (GRCm39) T19I probably benign Het
Plekhg5 T C 4: 152,188,755 (GRCm39) L199P probably damaging Het
Rasal1 A G 5: 120,800,249 (GRCm39) T171A probably benign Het
Rgsl1 T C 1: 153,701,225 (GRCm39) I410V probably benign Het
Scart2 T C 7: 139,874,725 (GRCm39) V401A possibly damaging Het
Sftpa1 C A 14: 40,856,169 (GRCm39) N171K probably damaging Het
Slc5a9 A T 4: 111,734,737 (GRCm39) *686R probably null Het
Smap1 A T 1: 23,916,855 (GRCm39) N91K probably damaging Het
Tenm3 A G 8: 48,788,762 (GRCm39) S695P probably benign Het
Thoc3 A T 13: 54,611,617 (GRCm39) H223Q probably damaging Het
Tmco4 T C 4: 138,737,872 (GRCm39) F156L probably benign Het
Tmem30a C T 9: 79,682,513 (GRCm39) V188I probably benign Het
Trim27 T A 13: 21,376,328 (GRCm39) C359S probably benign Het
Trrap A G 5: 144,769,321 (GRCm39) T2609A probably benign Het
Ttn A G 2: 76,692,744 (GRCm39) V446A Het
Vat1l T A 8: 115,009,084 (GRCm39) Y273N probably damaging Het
Vmn1r129 T A 7: 21,094,552 (GRCm39) H222L possibly damaging Het
Vmn2r19 A G 6: 123,308,521 (GRCm39) T533A probably benign Het
Vmn2r77 T A 7: 86,460,492 (GRCm39) L606* probably null Het
Vmn2r93 G T 17: 18,525,631 (GRCm39) V430L probably benign Het
Vps50 T A 6: 3,562,304 (GRCm39) N466K probably damaging Het
Zfp507 A T 7: 35,487,229 (GRCm39) Y746* probably null Het
Zfp521 A C 18: 13,977,173 (GRCm39) L1080R probably damaging Het
Zfp74 A G 7: 29,653,278 (GRCm39) probably null Het
Zfp831 G A 2: 174,487,934 (GRCm39) A870T possibly damaging Het
Zfp936 A T 7: 42,839,336 (GRCm39) K268* probably null Het
Zhx2 C A 15: 57,685,572 (GRCm39) R314S probably damaging Het
Zkscan16 A T 4: 58,957,679 (GRCm39) K654* probably null 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
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
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'- TAGTCCAAAGGCAAATTGACGG -3'
(R):5'- TTGGCAAACACCTGCTTCC -3'

Sequencing Primer
(F):5'- CCAAAGGCAAATTGACGGAGGAG -3'
(R):5'- CCTTTCAAAGGGAATGCAACATAAG -3'
Posted On 2019-11-12