Incidental Mutation 'R5416:Cybb'
ID 427768
Institutional Source Beutler Lab
Gene Symbol Cybb
Ensembl Gene ENSMUSG00000015340
Gene Name cytochrome b-245, beta polypeptide
Synonyms Cgd, Nox2, gp91phox, gp91
MMRRC Submission 042985-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5416 (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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,871,331 (GRCm39) E689D probably damaging Het
Acsl6 A G 11: 54,227,997 (GRCm39) E339G probably benign Het
Adcy3 G A 12: 4,259,308 (GRCm39) E861K probably damaging Het
Adrm1 C T 2: 179,817,930 (GRCm39) T394I probably benign Het
Adsl T A 15: 80,836,384 (GRCm39) probably null Het
Asxl3 T A 18: 22,657,551 (GRCm39) C1854S probably damaging Het
C87436 A G 6: 86,442,832 (GRCm39) Y458C probably damaging Het
Cacna1e T C 1: 154,341,525 (GRCm39) D1161G probably damaging Het
Ccdc187 G A 2: 26,166,104 (GRCm39) P775L possibly damaging Het
Ccr1 G T 9: 123,764,413 (GRCm39) P39H probably damaging Het
Cdh18 A G 15: 23,226,809 (GRCm39) Y90C probably damaging Het
Chadl T C 15: 81,578,100 (GRCm39) R510G probably benign Het
Clcnkb T C 4: 141,141,211 (GRCm39) T115A probably benign Het
Clptm1 C A 7: 19,367,741 (GRCm39) probably benign Het
Col24a1 A T 3: 145,020,786 (GRCm39) R386* probably null Het
Ctsj G T 13: 61,152,337 (GRCm39) L10M probably damaging Het
Dhx40 T C 11: 86,688,517 (GRCm39) D302G probably benign Het
Edrf1 T C 7: 133,243,131 (GRCm39) F166L possibly damaging Het
Epha1 A T 6: 42,342,805 (GRCm39) M248K probably damaging Het
Evpl C A 11: 116,125,085 (GRCm39) V126L probably benign Het
Fam83d T C 2: 158,627,552 (GRCm39) C414R possibly damaging Het
Fat2 T C 11: 55,194,514 (GRCm39) N1175S possibly damaging Het
Fhad1 G A 4: 141,646,113 (GRCm39) T283I probably benign Het
Fuca1 A G 4: 135,650,291 (GRCm39) T121A probably damaging Het
Gm13941 A T 2: 110,925,079 (GRCm39) S175T unknown Het
Gpr107 T A 2: 31,075,560 (GRCm39) I357N probably damaging Het
Gpr161 T A 1: 165,149,030 (GRCm39) H466Q probably benign Het
Hsd3b5 A G 3: 98,526,466 (GRCm39) F327L probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Itgb7 A T 15: 102,125,744 (GRCm39) D628E probably benign Het
Nwd1 A G 8: 73,393,322 (GRCm39) D236G possibly damaging Het
Or56b2j C T 7: 104,352,923 (GRCm39) L50F probably benign Het
Or6d14 A T 6: 116,534,166 (GRCm39) Y260F probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhb8 A G 18: 37,490,008 (GRCm39) Y562C probably damaging Het
Phkg2 A G 7: 127,182,107 (GRCm39) H376R possibly damaging Het
Plxnc1 G A 10: 94,673,416 (GRCm39) T1018I probably damaging Het
Ppp6r1 A T 7: 4,642,747 (GRCm39) D532E possibly damaging Het
Prkdc T C 16: 15,623,814 (GRCm39) L3259P probably damaging Het
Prkg2 A T 5: 99,091,326 (GRCm39) D641E probably benign Het
Psg26 T C 7: 18,216,525 (GRCm39) T105A probably benign Het
Ptprs T C 17: 56,742,724 (GRCm39) T473A probably damaging Het
Pwp2 G T 10: 78,018,835 (GRCm39) N57K probably damaging Het
Rnf216 G T 5: 143,001,526 (GRCm39) C733* probably null Het
Serpina1f T A 12: 103,660,203 (GRCm39) K26N possibly damaging Het
Sez6l2 T A 7: 126,561,058 (GRCm39) C448S probably damaging Het
Slc28a3 A T 13: 58,724,607 (GRCm39) L216M probably damaging Het
Sorbs1 A G 19: 40,365,433 (GRCm39) S117P probably benign Het
Sorl1 A T 9: 41,913,932 (GRCm39) C1332* probably null Het
Specc1 T C 11: 62,009,735 (GRCm39) V497A probably benign Het
Tmem204 T C 17: 25,277,300 (GRCm39) E195G probably damaging Het
Tnfrsf13b T C 11: 61,037,849 (GRCm39) probably null Het
Ttll5 G A 12: 86,059,602 (GRCm39) V1250M possibly damaging Het
Ube4a G A 9: 44,852,476 (GRCm39) T681I probably damaging Het
Ubqln3 C T 7: 103,790,879 (GRCm39) V404I probably benign Het
Yeats2 T C 16: 20,030,319 (GRCm39) S919P probably benign Het
Zfp575 C T 7: 24,286,147 (GRCm39) G3D probably benign Het
Zfp644 C T 5: 106,766,294 (GRCm39) silent 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
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
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'- TCCCACATGTCCTGGTTTGG -3'
(R):5'- TTGCGATATGTGCACAATCAG -3'

Sequencing Primer
(F):5'- CTTCTCAACTTGACACATGCTAGAG -3'
(R):5'- CACAATCAGTGTTGAGGATATAGGCC -3'
Posted On 2016-09-01