Incidental Mutation 'R6336:Ncf2'
ID 510738
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 044490-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R6336 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 152675945-152712742 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152709821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 393 (Y393H)
Ref Sequence ENSEMBL: ENSMUSP00000140404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027754] [ENSMUST00000043560] [ENSMUST00000073441] [ENSMUST00000111836] [ENSMUST00000186568]
AlphaFold O70145
Predicted Effect probably damaging
Transcript: ENSMUST00000027754
AA Change: Y393H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027754
Gene: ENSMUSG00000026480
AA Change: Y393H

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: ENSMUST00000043560
SMART Domains Protein: ENSMUSP00000041241
Gene: ENSMUSG00000042772

DomainStartEndE-ValueType
Pfam:EST1 63 177 3.4e-30 PFAM
Pfam:EST1_DNA_bind 179 438 3.3e-64 PFAM
low complexity region 457 465 N/A INTRINSIC
low complexity region 615 633 N/A INTRINSIC
low complexity region 682 710 N/A INTRINSIC
low complexity region 711 729 N/A INTRINSIC
low complexity region 874 898 N/A INTRINSIC
low complexity region 906 922 N/A INTRINSIC
low complexity region 931 947 N/A INTRINSIC
low complexity region 1008 1034 N/A INTRINSIC
low complexity region 1126 1140 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073441
SMART Domains Protein: ENSMUSP00000073144
Gene: ENSMUSG00000042772

DomainStartEndE-ValueType
Pfam:EST1 52 172 2.3e-26 PFAM
Pfam:EST1_DNA_bind 171 430 3.6e-66 PFAM
low complexity region 449 457 N/A INTRINSIC
low complexity region 653 671 N/A INTRINSIC
low complexity region 720 748 N/A INTRINSIC
low complexity region 749 767 N/A INTRINSIC
low complexity region 919 935 N/A INTRINSIC
low complexity region 996 1022 N/A INTRINSIC
low complexity region 1114 1128 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111836
SMART Domains Protein: ENSMUSP00000107467
Gene: ENSMUSG00000042772

DomainStartEndE-ValueType
Pfam:EST1 52 172 2.3e-26 PFAM
Pfam:EST1_DNA_bind 171 430 3.7e-66 PFAM
low complexity region 449 457 N/A INTRINSIC
low complexity region 607 625 N/A INTRINSIC
low complexity region 674 702 N/A INTRINSIC
low complexity region 703 721 N/A INTRINSIC
low complexity region 866 890 N/A INTRINSIC
low complexity region 898 914 N/A INTRINSIC
low complexity region 923 939 N/A INTRINSIC
low complexity region 1000 1026 N/A INTRINSIC
low complexity region 1118 1132 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000186568
AA Change: Y393H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140404
Gene: ENSMUSG00000026480
AA Change: Y393H

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
Meta Mutation Damage Score 0.5226 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 98% (45/46)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik G T 5: 113,331,349 (GRCm39) P955Q possibly damaging Het
Adgrv1 T C 13: 81,534,100 (GRCm39) N5827S probably benign Het
Akt3 T C 1: 176,859,278 (GRCm39) D431G probably damaging Het
Anapc16 A T 10: 59,824,651 (GRCm39) V76D possibly damaging Het
Ankib1 A T 5: 3,750,377 (GRCm39) Y755* probably null Het
Ankrd6 A G 4: 32,860,411 (GRCm39) S11P probably damaging Het
Card6 T A 15: 5,128,646 (GRCm39) K917* probably null Het
Ccdc152 T C 15: 3,330,611 (GRCm39) I21M probably damaging Het
Ccdc40 A G 11: 119,122,819 (GRCm39) E207G possibly damaging Het
Clca3a2 G T 3: 144,512,239 (GRCm39) A499E probably benign Het
Cntnap5b C T 1: 100,286,394 (GRCm39) A383V probably benign Het
Ddo T C 10: 40,509,027 (GRCm39) V89A probably damaging Het
Depdc5 T C 5: 33,121,851 (GRCm39) 176 probably null Het
Dlgap1 T A 17: 71,122,284 (GRCm39) D904E probably damaging Het
Ephb4 T A 5: 137,370,347 (GRCm39) L849H probably damaging Het
Fbxl13 A G 5: 21,728,545 (GRCm39) probably null Het
Fer1l6 C A 15: 58,431,081 (GRCm39) Y245* probably null Het
Foxred2 A G 15: 77,839,964 (GRCm39) Y109H probably damaging Het
Gabarapl1 A G 6: 129,514,491 (GRCm39) D43G probably benign Het
Gabrb1 A C 5: 72,187,241 (GRCm39) E178A possibly damaging Het
Gbp11 A G 5: 105,473,355 (GRCm39) Het
Grin3b C A 10: 79,812,295 (GRCm39) A845E probably damaging Het
Hoxd4 A G 2: 74,557,705 (GRCm39) Y28C probably damaging Het
Igsf10 G A 3: 59,237,760 (GRCm39) T807M probably benign Het
Kcnt1 A G 2: 25,778,767 (GRCm39) probably null Het
Kdm5a C A 6: 120,375,939 (GRCm39) T565K probably damaging Het
Map7d1 A G 4: 126,130,475 (GRCm39) S412P probably damaging Het
Mok A G 12: 110,800,558 (GRCm39) probably null Het
Mto1 A T 9: 78,381,117 (GRCm39) I73F probably damaging Het
Mtss2 G A 8: 111,458,796 (GRCm39) D310N probably damaging Het
Or13c25 A T 4: 52,911,459 (GRCm39) C112S probably damaging Het
Or2f1b T C 6: 42,739,591 (GRCm39) S202P probably damaging Het
Or2y14 G T 11: 49,405,369 (GRCm39) K301N probably damaging Het
Or4f47 A C 2: 111,972,751 (GRCm39) I154L probably benign Het
Or4k49 A G 2: 111,494,964 (GRCm39) H131R possibly damaging Het
Or52z1 T C 7: 103,437,452 (GRCm39) T11A possibly damaging Het
Phxr2 T A 10: 98,961,952 (GRCm39) probably benign Het
Potefam3f A G 8: 20,499,951 (GRCm39) K242E unknown Het
Rnf17 A G 14: 56,658,626 (GRCm39) probably null Het
Serpinb9d T C 13: 33,378,677 (GRCm39) M41T probably damaging Het
Slc12a5 T A 2: 164,834,384 (GRCm39) probably null Het
Slc22a6 G A 19: 8,599,494 (GRCm39) R331H probably benign Het
Spg11 G C 2: 121,943,440 (GRCm39) probably null Het
Src T A 2: 157,299,075 (GRCm39) V24E probably benign Het
Srgap1 A T 10: 121,761,846 (GRCm39) Y101N probably benign Het
Vmn2r30 T A 7: 7,337,307 (GRCm39) T110S probably benign Het
Vwa3a A G 7: 120,361,646 (GRCm39) E119G possibly damaging Het
Whamm T A 7: 81,241,512 (GRCm39) D274E 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
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
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'- AGCTTCGGAACATGGTGTC -3'
(R):5'- CTGTAAGCCACAATGTCCCC -3'

Sequencing Primer
(F):5'- TGTCTAAGAAGCTGGCGC -3'
(R):5'- CCATCACTAAGCCAATGTGTG -3'
Posted On 2018-04-02