Incidental Mutation 'R6147:Cybb'
ID 488986
Institutional Source Beutler Lab
Gene Symbol Cybb
Ensembl Gene ENSMUSG00000015340
Gene Name cytochrome b-245, beta polypeptide
Synonyms Cgd, Nox2, gp91phox, gp91
MMRRC Submission 044294-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6147 (G1)
Quality Score 221.999
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: 99.8%
  • 3x: 99.3%
  • 10x: 97.1%
  • 20x: 92.3%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd C T 1: 127,657,157 (GRCm39) probably benign Het
Acsf3 T A 8: 123,508,213 (GRCm39) D236E probably damaging Het
Aqp1 G T 6: 55,313,595 (GRCm39) E40D probably benign Het
Arfgef2 A G 2: 166,713,415 (GRCm39) D1272G probably damaging Het
Arfip1 A G 3: 84,436,485 (GRCm39) V97A probably benign Het
Atp6v1b2 T A 8: 69,555,134 (GRCm39) Y165* probably null Het
Bclaf1 T A 10: 20,199,171 (GRCm39) D189E possibly damaging Het
Camsap2 G A 1: 136,273,138 (GRCm39) T13M probably damaging Het
Cblif G A 19: 11,724,936 (GRCm39) probably benign Het
Cntn5 T A 9: 10,012,894 (GRCm39) Y297F probably damaging Het
Cntnap5b G A 1: 99,978,506 (GRCm39) C174Y probably damaging Het
Cntrl A C 2: 35,055,745 (GRCm39) D1213A possibly damaging Het
Comtd1 C A 14: 21,898,883 (GRCm39) A20S probably damaging Het
Cspg4 A T 9: 56,796,056 (GRCm39) R1264W probably damaging Het
Dlgap2 T A 8: 14,777,294 (GRCm39) C180S probably benign Het
Ednra C T 8: 78,393,951 (GRCm39) probably benign Het
Efcab3 T C 11: 104,858,566 (GRCm39) V3875A unknown Het
Ephb6 A T 6: 41,593,715 (GRCm39) S533C probably damaging Het
Fndc1 A T 17: 7,972,594 (GRCm39) probably null Het
Gm12185 A G 11: 48,806,717 (GRCm39) I158T probably benign Het
Gm14325 A T 2: 177,474,600 (GRCm39) C161S probably damaging Het
Ighv9-1 T A 12: 114,057,840 (GRCm39) Q20L probably damaging Het
Khnyn G C 14: 56,125,060 (GRCm39) S438T probably damaging Het
Krt9 T C 11: 100,079,665 (GRCm39) S576G unknown Het
Lrriq4 A T 3: 30,713,228 (GRCm39) N443I probably damaging Het
Luzp1 A G 4: 136,268,374 (GRCm39) Y199C probably damaging Het
Map2k3 T A 11: 60,840,776 (GRCm39) Y268* probably null Het
Men1 T A 19: 6,387,272 (GRCm39) D248E probably damaging Het
Mfsd4b2 A T 10: 39,797,573 (GRCm39) C261S probably benign Het
Mpeg1 T G 19: 12,440,258 (GRCm39) I572S probably damaging Het
Mrgprb2 A G 7: 48,202,113 (GRCm39) V204A possibly damaging Het
Mycbp2 A T 14: 103,392,945 (GRCm39) C805* probably null Het
Nphs2 A T 1: 156,146,296 (GRCm39) K91* probably null Het
Obox3 A G 7: 15,359,926 (GRCm39) S248P probably damaging Het
Or12d17 T C 17: 37,777,430 (GRCm39) I111T probably benign Het
Or5w19 C T 2: 87,699,061 (GRCm39) T242I probably benign Het
Or8k22 A T 2: 86,162,844 (GRCm39) N285K probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pan3 T C 5: 147,485,093 (GRCm39) probably benign Het
Pate10 A G 9: 35,653,528 (GRCm39) T111A possibly damaging Het
Pate10 A T 9: 35,653,406 (GRCm39) Y70F possibly damaging Het
Pcdhb5 T A 18: 37,453,779 (GRCm39) L53Q probably damaging Het
Pcdhb9 G T 18: 37,535,494 (GRCm39) R496L possibly damaging Het
Peg10 C T 6: 4,754,499 (GRCm39) probably benign Het
Plce1 A G 19: 38,690,481 (GRCm39) K722E probably damaging Het
Plch1 A G 3: 63,630,302 (GRCm39) S489P probably damaging Het
Plekhg3 T C 12: 76,611,985 (GRCm39) V362A probably damaging Het
Prorp A G 12: 55,426,093 (GRCm39) Y168C probably damaging Het
Radil G A 5: 142,483,695 (GRCm39) H264Y probably benign Het
Ranbp2 C A 10: 58,315,250 (GRCm39) T1990K probably damaging Het
Rnf207 T C 4: 152,400,112 (GRCm39) D192G probably damaging Het
Ryr1 A T 7: 28,785,339 (GRCm39) F1784Y possibly damaging Het
Set T A 2: 29,956,836 (GRCm39) S2T probably benign Het
Slc26a2 T A 18: 61,334,757 (GRCm39) Y232F probably damaging Het
Sntb1 T A 15: 55,511,406 (GRCm39) M393L probably benign Het
Stx16 A G 2: 173,932,480 (GRCm39) T18A probably damaging Het
Stxbp5 A T 10: 9,684,216 (GRCm39) S585T possibly damaging Het
Sult2a7 T C 7: 14,199,088 (GRCm39) E313G probably damaging Het
Tbck A G 3: 132,400,207 (GRCm39) K86R probably benign Het
Tom1 A T 8: 75,781,320 (GRCm39) Q255L possibly damaging Het
Trbv4 A G 6: 41,036,637 (GRCm39) Y54C probably damaging Het
Trim34a A T 7: 103,910,398 (GRCm39) Q400L probably damaging Het
Trim42 G T 9: 97,245,382 (GRCm39) H473N probably benign Het
Tsbp1 T C 17: 34,637,897 (GRCm39) S31P possibly damaging Het
Tshr T A 12: 91,505,009 (GRCm39) M649K possibly damaging Het
Vmn2r11 C T 5: 109,202,700 (GRCm39) V126M probably benign Het
Vps13b T A 15: 35,930,177 (GRCm39) H3971Q probably benign Het
Wdr75 T A 1: 45,858,698 (GRCm39) N622K probably benign Het
Wdr93 A T 7: 79,408,245 (GRCm39) Q242L probably benign 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
R5519: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
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'- TCCCACATGTCCTGGTTTGG -3'
(R):5'- TTTGCGATATGTGCACAATCAG -3'

Sequencing Primer
(F):5'- CTTCTCAACTTGACACATGCTAGAG -3'
(R):5'- CACAATCAGTGTTGAGGATATAGGCC -3'
Posted On 2017-10-10