Incidental Mutation 'R7048:Ncf2'
ID 547406
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 045146-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R7048 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 152675945-152712742 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 152683921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Histidine at position 47 (N47H)
Ref Sequence ENSEMBL: ENSMUSP00000140404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027754] [ENSMUST00000186568] [ENSMUST00000190323]
AlphaFold O70145
Predicted Effect probably benign
Transcript: ENSMUST00000027754
AA Change: N47H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027754
Gene: ENSMUSG00000026480
AA Change: N47H

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 benign
Transcript: ENSMUST00000186568
AA Change: N47H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140404
Gene: ENSMUSG00000026480
AA Change: N47H

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 benign
Transcript: ENSMUST00000190323
SMART Domains Protein: ENSMUSP00000139774
Gene: ENSMUSG00000026480

DomainStartEndE-ValueType
Pfam:TPR_1 1 26 5.8e-4 PFAM
low complexity region 54 69 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 97% (66/68)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl2 T C 3: 148,552,565 (GRCm39) D629G probably damaging Het
Akap11 T A 14: 78,749,954 (GRCm39) Q811L Het
Ank2 T A 3: 126,819,267 (GRCm39) Q468L probably benign Het
Ano3 A T 2: 110,513,116 (GRCm39) Y626* probably null Het
Ap1m1 A G 8: 73,003,642 (GRCm39) N114S probably damaging Het
Asb3 T A 11: 31,051,121 (GRCm39) I525N probably damaging Het
Atg4a-ps A G 3: 103,552,672 (GRCm39) I223T probably damaging Het
B3gnt7 T C 1: 86,233,308 (GRCm39) Y68H probably benign Het
Bbs5 T C 2: 69,484,705 (GRCm39) I125T probably benign Het
Cd180 A G 13: 102,841,431 (GRCm39) N159S probably damaging Het
Cd37 T C 7: 44,887,888 (GRCm39) probably benign Het
Cdk14 T A 5: 5,143,005 (GRCm39) Q242L probably damaging Het
Clcn1 T C 6: 42,284,477 (GRCm39) V605A probably damaging Het
Cped1 G A 6: 22,119,469 (GRCm39) M309I probably benign Het
Cyp2r1 A T 7: 114,151,971 (GRCm39) Y120N probably damaging Het
Ddx3y A T Y: 1,279,491 (GRCm39) S124R probably benign Het
Dlec1 A T 9: 118,972,472 (GRCm39) probably null Het
Dnah17 T C 11: 117,936,944 (GRCm39) E3420G possibly damaging Het
Dnajc13 C T 9: 104,080,613 (GRCm39) probably null Het
Dusp23 A T 1: 172,459,253 (GRCm39) Y136* probably null Het
Eif4b A G 15: 102,001,571 (GRCm39) probably benign Het
F13a1 A G 13: 37,082,117 (GRCm39) V529A probably benign Het
Fhl2 A G 1: 43,162,808 (GRCm39) Y236H probably damaging Het
Gm826 C T 2: 160,169,026 (GRCm39) W94* probably null Het
Gpsm2 C T 3: 108,610,361 (GRCm39) R33H probably damaging Het
Hmcn1 T C 1: 150,475,404 (GRCm39) probably null Het
Ifit1bl2 T C 19: 34,596,551 (GRCm39) D355G probably benign Het
Itga8 A G 2: 12,115,895 (GRCm39) V77A probably damaging Het
Kcmf1 C T 6: 72,826,450 (GRCm39) R40K probably damaging Het
Kdm7a T C 6: 39,145,982 (GRCm39) E315G probably damaging Het
Kmt2b C T 7: 30,268,731 (GRCm39) G2666D probably damaging Het
Lrrtm1 A G 6: 77,221,152 (GRCm39) N203S probably damaging Het
Mdn1 A G 4: 32,767,969 (GRCm39) N5301D probably benign Het
Mest T G 6: 30,742,723 (GRCm39) H108Q probably damaging Het
Mettl25b A G 3: 87,837,167 (GRCm39) I36T probably damaging Het
Moxd1 C A 10: 24,157,374 (GRCm39) D335E probably damaging Het
Npc1 A G 18: 12,337,822 (GRCm39) probably null Het
Or14j2 A T 17: 37,886,114 (GRCm39) S67T probably damaging Het
Pcid2 A G 8: 13,128,243 (GRCm39) V386A probably benign Het
Phactr2 T A 10: 13,121,168 (GRCm39) T444S probably benign Het
Plekha7 T C 7: 115,747,559 (GRCm39) N710D probably benign Het
Ppp1r16b C T 2: 158,599,174 (GRCm39) T382I probably benign Het
Pramel15 T C 4: 144,103,754 (GRCm39) D124G probably benign Het
Ptprz1 A T 6: 22,961,622 (GRCm39) Y111F probably benign Het
Rbbp8 A G 18: 11,865,277 (GRCm39) E722G possibly damaging Het
Rimbp3 A G 16: 17,028,190 (GRCm39) D538G probably benign Het
Rims1 A G 1: 22,511,901 (GRCm39) S551P probably damaging Het
Rsrc1 A G 3: 67,088,164 (GRCm39) D166G probably damaging Het
Selenon T C 4: 134,270,154 (GRCm39) N350S probably benign Het
Sh3gl2 T A 4: 85,295,802 (GRCm39) L168H probably damaging Het
Smc3 T C 19: 53,617,682 (GRCm39) Y560H probably benign Het
Syce1 C T 7: 140,359,281 (GRCm39) D147N possibly damaging Het
Syt10 A C 15: 89,675,008 (GRCm39) V446G probably damaging Het
Taar1 T C 10: 23,796,722 (GRCm39) L140P probably benign Het
Tfpi2 C A 6: 3,968,032 (GRCm39) C36F probably damaging Het
Thoc5 G A 11: 4,876,237 (GRCm39) probably null Het
Tnrc6c T A 11: 117,612,800 (GRCm39) N319K probably benign Het
Trhr2 C T 8: 123,085,418 (GRCm39) D189N probably damaging Het
Trim42 A T 9: 97,245,474 (GRCm39) F442Y probably damaging Het
Ubap2 G A 4: 41,196,033 (GRCm39) T949I possibly damaging Het
Ugt1a8 T C 1: 88,016,024 (GRCm39) F146L probably benign Het
Vmn2r80 C A 10: 79,030,153 (GRCm39) Q660K probably damaging Het
Vstm2b C T 7: 40,578,800 (GRCm39) T258I possibly damaging Het
Washc2 T C 6: 116,197,544 (GRCm39) L259P possibly damaging Het
Zscan18 A T 7: 12,508,671 (GRCm39) probably benign Het
Zzef1 T G 11: 72,757,525 (GRCm39) Y1193* probably null 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
R0560:Ncf2 UTSW 1 152,697,273 (GRCm39) missense probably damaging 1.00
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
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'- CATCCTGCCTTCTGGTAAGC -3'
(R):5'- GATCTCATAAAGAGCAGAGCCC -3'

Sequencing Primer
(F):5'- TTCTGGTAAGCACCTAACCATG -3'
(R):5'- GCCCTGGGAGCTTTTAAAAC -3'
Posted On 2019-05-13