Incidental Mutation 'R1488:Cyb5r4'
ID 165508
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 039540-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1488 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 86904082-86959827 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to G at 86911591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 88 (Y88*)
Ref Sequence ENSEMBL: ENSMUSP00000126119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168529]
AlphaFold Q3TDX8
Predicted Effect probably null
Transcript: ENSMUST00000168529
AA Change: Y88*
SMART Domains Protein: ENSMUSP00000126119
Gene: ENSMUSG00000032872
AA Change: Y88*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.3%
Validation Efficiency 100% (53/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 A G 6: 48,910,381 (GRCm39) N691S possibly damaging Het
Arhgap23 A G 11: 97,391,685 (GRCm39) S1401G possibly damaging Het
Art2b A C 7: 101,229,414 (GRCm39) F162V probably damaging Het
Atg4c T A 4: 99,109,479 (GRCm39) W149R probably damaging Het
Atxn1l A G 8: 110,460,049 (GRCm39) I71T probably benign Het
Axdnd1 T A 1: 156,176,530 (GRCm39) L748F probably damaging Het
Bdh2 A G 3: 135,002,602 (GRCm39) Y157C probably damaging Het
C2cd4a G T 9: 67,738,990 (GRCm39) R18S probably benign Het
Catsperb A G 12: 101,560,526 (GRCm39) H839R probably damaging Het
Ccdc24 C A 4: 117,727,765 (GRCm39) S134I possibly damaging Het
Cd55 G T 1: 130,376,115 (GRCm39) T70K probably damaging Het
Cdh10 A T 15: 19,013,349 (GRCm39) I650F probably damaging Het
Clca3a2 T A 3: 144,789,925 (GRCm39) K470N possibly damaging Het
Csn2 G A 5: 87,842,755 (GRCm39) Q91* probably null Het
Ctsh G A 9: 89,953,944 (GRCm39) D218N possibly damaging Het
Dgkq A G 5: 108,798,743 (GRCm39) F601S probably damaging Het
Eci2 A G 13: 35,161,916 (GRCm39) V352A probably benign Het
Krt28 T C 11: 99,255,997 (GRCm39) T421A probably benign Het
Lamp5 T C 2: 135,911,011 (GRCm39) V248A probably benign Het
Lin9 T A 1: 180,515,850 (GRCm39) L483Q possibly damaging Het
Lrp1b C A 2: 41,392,036 (GRCm39) M509I probably benign Het
Lrrfip1 T C 1: 91,042,354 (GRCm39) V253A probably damaging Het
Mpdz C A 4: 81,266,945 (GRCm39) E981* probably null Het
Mpo A C 11: 87,688,256 (GRCm39) N305T probably damaging Het
Or2y1 A G 11: 49,385,945 (GRCm39) E195G probably benign Het
Or51a24 T C 7: 103,733,859 (GRCm39) I143V probably benign Het
Or5p79 A T 7: 108,221,696 (GRCm39) I226F probably damaging Het
Papss2 T C 19: 32,614,490 (GRCm39) S69P probably benign Het
Pcdhb22 A G 18: 37,652,941 (GRCm39) T470A possibly damaging Het
Plce1 A G 19: 38,705,247 (GRCm39) D884G possibly damaging Het
Prex2 T A 1: 11,263,752 (GRCm39) I1239K probably benign Het
Prkd2 T A 7: 16,592,364 (GRCm39) F625I probably damaging Het
Rab20 A T 8: 11,504,268 (GRCm39) V144E probably benign Het
Rnf213 A G 11: 119,371,715 (GRCm39) N4840S probably benign Het
Scaf8 T G 17: 3,247,872 (GRCm39) M1065R probably damaging Het
Slco3a1 A G 7: 73,996,449 (GRCm39) L319P possibly damaging Het
Slit1 A G 19: 41,596,824 (GRCm39) C1092R probably damaging Het
Tlr4 A G 4: 66,757,786 (GRCm39) D193G probably damaging Het
Tmem145 T A 7: 25,006,860 (GRCm39) probably null Het
Tmem184a T A 5: 139,793,395 (GRCm39) K235N probably benign Het
Tnpo1 A T 13: 98,993,415 (GRCm39) D590E probably damaging Het
Trio C A 15: 27,741,053 (GRCm39) G2724V probably damaging Het
Ttc6 A T 12: 57,696,301 (GRCm39) Y34F possibly damaging Het
Tuba4a T C 1: 75,193,045 (GRCm39) T190A probably benign Het
Tubgcp4 T G 2: 121,007,031 (GRCm39) V136G possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn1r74 T C 7: 11,581,510 (GRCm39) I270T probably benign Het
Vmn2r103 A T 17: 20,013,922 (GRCm39) E238V probably damaging Het
Vmn2r60 T A 7: 41,786,137 (GRCm39) F313L probably benign Het
Zfp710 T C 7: 79,731,752 (GRCm39) Y310H 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
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 PCR Primer
(F):5'- CACCATCACATGGATCTGGGCTTAAA -3'
(R):5'- ATGAATGCAAGCATTTCCTTCCTCCAA -3'

Sequencing Primer
(F):5'- tcactggcatttaggaaggac -3'
(R):5'- AATGTCTCACTGCTAAGTCCACG -3'
Posted On 2014-03-28