Incidental Mutation 'R5519:Cybb'
ID 431485
Institutional Source Beutler Lab
Gene Symbol Cybb
Ensembl Gene ENSMUSG00000015340
Gene Name cytochrome b-245, beta polypeptide
Synonyms Cgd, Nox2, gp91phox, gp91
MMRRC Submission 043078-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5519 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 9301493-9354005 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 9316989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Histidine at position 246 (D246H)
Ref Sequence ENSEMBL: ENSMUSP00000015484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015484] [ENSMUST00000164685]
AlphaFold Q61093
Predicted Effect probably benign
Transcript: ENSMUST00000015484
AA Change: D246H

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000015484
Gene: ENSMUSG00000015340
AA Change: D246H

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:Ferric_reduct 54 220 8.4e-29 PFAM
Pfam:FAD_binding_6 292 395 1.6e-7 PFAM
Pfam:FAD_binding_8 292 395 1e-24 PFAM
Pfam:NAD_binding_6 401 551 5.7e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154503
Predicted Effect probably benign
Transcript: ENSMUST00000164685
SMART Domains Protein: ENSMUSP00000128963
Gene: ENSMUSG00000015340

DomainStartEndE-ValueType
transmembrane domain 10 29 N/A INTRINSIC
transmembrane domain 50 72 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.6%
  • 10x: 94.7%
  • 20x: 88.5%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the heavy chain component of a heterodimeric transmembrane ion transporter composed of both a heavy and a light chain. This transporter mediates the transfer of electrons from nicotinamide adenine dinucleotide phosphate (NADPH) to oxygen to generate superoxide. This reaction is important in the innate immune response to pathogens. However, increased activity of the encoded protein also leads to the generation of reactive oxygen species that result in oxidative stress and can cause tissue damage. Conversely, loss of function of the related gene in human causes chronic granulomatous disease. Alternative splicing results in multiple transcript variants, although the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]
PHENOTYPE: Nullizygous mice show alterations in acute inflammation, synaptic plasticity, memory, metastatic potential, susceptibility to infection and induced GI injury, inflammatory response to chemical peritonitis, vascular response to Ang II, hypoxia-induced LV remodeling, and L-NAME-caused renal responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik T C 8: 84,729,621 (GRCm39) V99A possibly damaging Het
2510009E07Rik A G 16: 21,472,218 (GRCm39) S91P probably benign Het
2810021J22Rik G A 11: 58,770,923 (GRCm39) S135N probably benign Het
A530084C06Rik T C 13: 31,742,702 (GRCm39) probably benign Het
Acadsb T C 7: 131,031,694 (GRCm39) S177P probably damaging Het
Acp3 C A 9: 104,168,687 (GRCm39) G393W probably damaging Het
Axl G A 7: 25,478,087 (GRCm39) A204V possibly damaging Het
Birc6 A T 17: 74,887,173 (GRCm39) M806L probably benign Het
Cacna1i T C 15: 80,255,700 (GRCm39) L861P probably damaging Het
Cfap44 A T 16: 44,224,451 (GRCm39) D53V probably damaging Het
Col9a1 G A 1: 24,269,335 (GRCm39) probably null Het
Ctf2 T A 7: 127,318,463 (GRCm39) I179L probably benign Het
Emilin2 G A 17: 71,559,930 (GRCm39) P1016S probably benign Het
Gm12790 G A 4: 101,824,888 (GRCm39) P127S probably benign Het
Gsap T A 5: 21,494,857 (GRCm39) V24E probably damaging Het
Ipp T C 4: 116,367,964 (GRCm39) F66L possibly damaging Het
Jakmip3 T C 7: 138,609,520 (GRCm39) I208T probably damaging Het
Med30 G T 15: 52,584,462 (GRCm39) D127Y probably damaging Het
Mosmo C T 7: 120,329,733 (GRCm39) P118L probably benign Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or51a42 G A 7: 103,708,504 (GRCm39) Q102* probably null Het
Padi2 A G 4: 140,676,533 (GRCm39) D557G probably damaging Het
Pde11a T A 2: 75,906,299 (GRCm39) K639N probably damaging Het
Pspc1 T C 14: 57,009,413 (GRCm39) I140M probably benign Het
Rundc3a A T 11: 102,292,857 (GRCm39) I417F probably benign Het
Scn1a T A 2: 66,162,557 (GRCm39) I230F probably damaging Het
Serpinb3b A G 1: 107,087,506 (GRCm39) M1T probably null Het
Sin3a T C 9: 57,025,457 (GRCm39) probably null Het
St8sia1 T C 6: 142,909,287 (GRCm39) N70D probably damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tpm2 T G 4: 43,522,751 (GRCm39) D55A possibly damaging Het
Trdv1 T A 14: 54,119,405 (GRCm39) M22K probably benign Het
Zc3h4 A T 7: 16,169,157 (GRCm39) T1089S unknown Het
Zfp518b G A 5: 38,831,441 (GRCm39) T188M probably damaging Het
Zfp74 G T 7: 29,634,559 (GRCm39) A383D probably damaging Het
Other mutations in Cybb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01125:Cybb APN X 9,312,983 (GRCm39) missense possibly damaging 0.46
IGL02145:Cybb APN X 9,323,257 (GRCm39) missense probably damaging 1.00
IGL02626:Cybb APN X 9,335,439 (GRCm39) splice site probably null
IGL02644:Cybb APN X 9,333,395 (GRCm39) missense probably benign 0.00
IGL02869:Cybb APN X 9,308,828 (GRCm39) missense probably benign 0.00
IGL03145:Cybb APN X 9,319,892 (GRCm39) nonsense probably null
R3978:Cybb UTSW X 9,310,827 (GRCm39) missense probably damaging 1.00
R3980:Cybb UTSW X 9,310,827 (GRCm39) missense probably damaging 1.00
R4758:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R4761:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R4787:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R4788:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R4793:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R4847:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R4901:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R4902:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R4904:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R4914:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R4915:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R4916:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R5058:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R5246:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R5416:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R5538:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R5539:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R5576:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R5578:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R5728:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R5729:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R5761:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R5762:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R5927:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R6057:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R6086:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R6144:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
R6147:Cybb UTSW X 9,316,989 (GRCm39) missense probably benign 0.10
Z1176:Cybb UTSW X 9,306,240 (GRCm39) missense probably damaging 0.96
Z1176:Cybb UTSW X 9,304,479 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATGTTTCCCACATGTCCTGG -3'
(R):5'- TTTGCGATATGTGCACAATCAG -3'

Sequencing Primer
(F):5'- CTTCTCAACTTGACACATGCTAGAG -3'
(R):5'- CACAATCAGTGTTGAGGATATAGGCC -3'
Posted On 2016-10-05