Incidental Mutation 'R0560:Ncf2'
ID 45815
Institutional Source Beutler Lab
Gene Symbol Ncf2
Ensembl Gene ENSMUSG00000026480
Gene Name neutrophil cytosolic factor 2
Synonyms NADPH oxidase subunit (67kDa), Ncf-2, p67phox, NOXA2
MMRRC Submission 038752-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R0560 (G1)
Quality Score 189
Status Validated
Chromosome 1
Chromosomal Location 152675945-152712742 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 152697273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 47 (Y47N)
Ref Sequence ENSEMBL: ENSMUSP00000139774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027754] [ENSMUST00000186568] [ENSMUST00000190323]
AlphaFold O70145
Predicted Effect probably damaging
Transcript: ENSMUST00000027754
AA Change: Y125N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027754
Gene: ENSMUSG00000026480
AA Change: Y125N

DomainStartEndE-ValueType
TPR 37 70 1.42e0 SMART
TPR 71 104 3.58e-6 SMART
TPR 121 154 1.05e1 SMART
SH3 243 298 1.02e-13 SMART
low complexity region 312 326 N/A INTRINSIC
PB1 350 428 2.6e-10 SMART
SH3 459 514 8.36e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000186568
AA Change: Y125N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140404
Gene: ENSMUSG00000026480
AA Change: Y125N

DomainStartEndE-ValueType
TPR 37 70 1.42e0 SMART
TPR 71 104 3.58e-6 SMART
TPR 121 154 1.05e1 SMART
SH3 243 298 1.02e-13 SMART
low complexity region 312 326 N/A INTRINSIC
PB1 350 428 2.6e-10 SMART
SH3 459 514 8.36e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187235
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189135
Predicted Effect probably damaging
Transcript: ENSMUST00000190323
AA Change: Y47N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139774
Gene: ENSMUSG00000026480
AA Change: Y47N

DomainStartEndE-ValueType
Pfam:TPR_1 1 26 5.8e-4 PFAM
low complexity region 54 69 N/A INTRINSIC
Meta Mutation Damage Score 0.7424 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (26/26)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob T C 12: 8,055,101 (GRCm39) Y1334H probably damaging Het
Arsb A G 13: 93,926,706 (GRCm39) T159A possibly damaging Het
Asb18 A C 1: 89,942,250 (GRCm39) V17G probably damaging Het
Bicd1 A G 6: 149,413,460 (GRCm39) K284E probably benign Het
Bspry A G 4: 62,404,686 (GRCm39) R161G probably damaging Het
Ccdc138 A G 10: 58,411,539 (GRCm39) T636A probably damaging Het
Cubn A T 2: 13,433,491 (GRCm39) W1140R probably damaging Het
Cyp2t4 A G 7: 26,857,936 (GRCm39) T479A probably damaging Het
Dele1 T A 18: 38,387,551 (GRCm39) L230Q probably damaging Het
Dtx3l A G 16: 35,753,305 (GRCm39) S434P probably damaging Het
Duox2 A G 2: 122,122,035 (GRCm39) V611A probably benign Het
Epb41l3 T G 17: 69,581,892 (GRCm39) probably null Het
Fam161b C T 12: 84,404,492 (GRCm39) D63N probably damaging Het
Gm5422 G A 10: 31,125,240 (GRCm39) noncoding transcript Het
Gpr158 A T 2: 21,830,085 (GRCm39) D710V probably damaging Het
Krtcap2 T C 3: 89,156,449 (GRCm39) probably null Het
Mtrf1 T A 14: 79,644,290 (GRCm39) D199E probably damaging Het
Myorg G A 4: 41,498,167 (GRCm39) R488W probably damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Ovgp1 T C 3: 105,893,726 (GRCm39) probably benign Het
Siglec1 G T 2: 130,912,266 (GRCm39) T1692N probably benign Het
Slc10a2 T C 8: 5,139,092 (GRCm39) N284S probably benign Het
Slfn3 T C 11: 83,103,978 (GRCm39) F283S probably damaging Het
Trank1 T C 9: 111,220,154 (GRCm39) F2297S possibly damaging Het
Vmn2r69 A G 7: 85,058,922 (GRCm39) probably null Het
Vps13d T C 4: 144,780,760 (GRCm39) E3957G probably damaging Het
Other mutations in Ncf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Ncf2 APN 1 152,683,925 (GRCm39) missense possibly damaging 0.49
IGL00952:Ncf2 APN 1 152,711,857 (GRCm39) missense probably benign 0.19
IGL01504:Ncf2 APN 1 152,709,080 (GRCm39) missense probably benign 0.00
IGL01693:Ncf2 APN 1 152,700,074 (GRCm39) missense probably benign 0.00
IGL02005:Ncf2 APN 1 152,692,803 (GRCm39) missense possibly damaging 0.73
IGL02041:Ncf2 APN 1 152,711,871 (GRCm39) utr 3 prime probably benign
IGL02327:Ncf2 APN 1 152,692,744 (GRCm39) missense possibly damaging 0.49
IGL02366:Ncf2 APN 1 152,710,824 (GRCm39) missense probably benign
IGL02627:Ncf2 APN 1 152,686,759 (GRCm39) splice site probably benign
R1136:Ncf2 UTSW 1 152,706,123 (GRCm39) missense probably damaging 1.00
R1640:Ncf2 UTSW 1 152,683,784 (GRCm39) start codon destroyed probably null 1.00
R1673:Ncf2 UTSW 1 152,706,230 (GRCm39) missense probably benign 0.13
R1836:Ncf2 UTSW 1 152,683,822 (GRCm39) missense probably damaging 1.00
R1873:Ncf2 UTSW 1 152,701,661 (GRCm39) missense probably benign 0.00
R1940:Ncf2 UTSW 1 152,709,815 (GRCm39) splice site probably benign
R1967:Ncf2 UTSW 1 152,706,123 (GRCm39) missense probably damaging 1.00
R3405:Ncf2 UTSW 1 152,701,698 (GRCm39) unclassified probably benign
R3406:Ncf2 UTSW 1 152,701,698 (GRCm39) unclassified probably benign
R4501:Ncf2 UTSW 1 152,710,784 (GRCm39) missense probably benign 0.00
R4503:Ncf2 UTSW 1 152,709,529 (GRCm39) missense probably benign 0.20
R4563:Ncf2 UTSW 1 152,683,976 (GRCm39) intron probably benign
R5841:Ncf2 UTSW 1 152,697,269 (GRCm39) splice site silent
R6336:Ncf2 UTSW 1 152,709,821 (GRCm39) missense probably damaging 1.00
R6385:Ncf2 UTSW 1 152,706,173 (GRCm39) missense probably benign 0.00
R6522:Ncf2 UTSW 1 152,703,214 (GRCm39) critical splice donor site probably null
R6811:Ncf2 UTSW 1 152,711,791 (GRCm39) missense probably benign 0.00
R7048:Ncf2 UTSW 1 152,683,921 (GRCm39) missense probably benign
R8224:Ncf2 UTSW 1 152,706,144 (GRCm39) missense possibly damaging 0.83
R8256:Ncf2 UTSW 1 152,692,851 (GRCm39) critical splice donor site probably null
R8863:Ncf2 UTSW 1 152,711,864 (GRCm39) makesense probably null
X0066:Ncf2 UTSW 1 152,686,730 (GRCm39) start codon destroyed probably null 0.27
Z1177:Ncf2 UTSW 1 152,701,693 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GCCCAGGTTCAATAGCAAGAGCAG -3'
(R):5'- AAGTGGGCTCCAAGGAAACCCATC -3'

Sequencing Primer
(F):5'- GATGAAGTGTTTTCTTAACACCGC -3'
(R):5'- AGGAAACCCATCCCCCAC -3'
Posted On 2013-06-11