Incidental Mutation 'R8224:Ncf2'
| ID |
636868 |
| 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 |
067660-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R8224 (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 152706144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 252
(V252A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027754]
[ENSMUST00000186568]
|
| AlphaFold |
O70145 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027754
AA Change: V252A
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027754
Gene: ENSMUSG00000026480
AA Change: V252A
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000186568
AA Change: V252A
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140404
Gene: ENSMUSG00000026480
AA Change: V252A
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.3%
|
| Validation Efficiency |
100% (49/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
T |
10: 29,094,249 (GRCm39) |
E45V |
probably damaging |
Het |
| Adamts9 |
A |
T |
6: 92,773,351 (GRCm39) |
V1754D |
probably damaging |
Het |
| Ankrd26 |
G |
A |
6: 118,502,716 (GRCm39) |
T818M |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,888,632 (GRCm39) |
E242G |
possibly damaging |
Het |
| Cdh20 |
G |
T |
1: 109,921,933 (GRCm39) |
L8F |
probably benign |
Het |
| Cenpa |
T |
C |
5: 30,830,699 (GRCm39) |
|
probably benign |
Het |
| Cfap61 |
T |
C |
2: 145,781,800 (GRCm39) |
V11A |
probably benign |
Het |
| Chfr |
T |
A |
5: 110,308,109 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
A |
T |
15: 55,271,137 (GRCm39) |
Y630F |
unknown |
Het |
| Cst5 |
A |
G |
2: 149,251,902 (GRCm39) |
N126D |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,354,688 (GRCm39) |
T1903A |
probably benign |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Gon4l |
A |
G |
3: 88,802,449 (GRCm39) |
E1020G |
probably damaging |
Het |
| Gp1ba |
A |
G |
11: 70,530,683 (GRCm39) |
N150D |
unknown |
Het |
| Gstm2 |
T |
C |
3: 107,891,314 (GRCm39) |
I169V |
probably benign |
Het |
| Ighv1-75 |
A |
T |
12: 115,797,859 (GRCm39) |
V21D |
probably benign |
Het |
| Il7 |
T |
C |
3: 7,642,308 (GRCm39) |
M51V |
possibly damaging |
Het |
| Insm2 |
A |
T |
12: 55,646,763 (GRCm39) |
D169V |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,080,628 (GRCm39) |
D373G |
noncoding transcript |
Het |
| Kif16b |
T |
C |
2: 142,676,008 (GRCm39) |
N431D |
probably benign |
Het |
| Kmt2a |
A |
C |
9: 44,719,326 (GRCm39) |
I3925S |
unknown |
Het |
| Lgi4 |
G |
A |
7: 30,763,017 (GRCm39) |
C164Y |
probably damaging |
Het |
| Lrfn5 |
A |
T |
12: 61,890,192 (GRCm39) |
I494F |
possibly damaging |
Het |
| Map9 |
T |
C |
3: 82,266,370 (GRCm39) |
I5T |
probably benign |
Het |
| Nlrp4g |
A |
T |
9: 124,353,374 (GRCm38) |
I573F |
noncoding transcript |
Het |
| Nrn1 |
G |
A |
13: 36,918,258 (GRCm39) |
L3F |
probably damaging |
Het |
| Or1ab2 |
A |
G |
8: 72,864,223 (GRCm39) |
D271G |
noncoding transcript |
Het |
| Or2d2 |
T |
A |
7: 106,728,079 (GRCm39) |
I174F |
probably damaging |
Het |
| Or5h24 |
A |
T |
16: 58,919,117 (GRCm39) |
D79E |
unknown |
Het |
| Or6c8 |
A |
G |
10: 128,915,304 (GRCm39) |
F176S |
possibly damaging |
Het |
| Otop1 |
C |
A |
5: 38,457,846 (GRCm39) |
T535K |
possibly damaging |
Het |
| Pacs2 |
A |
G |
12: 113,023,380 (GRCm39) |
T333A |
probably damaging |
Het |
| Pax3 |
T |
C |
1: 78,098,327 (GRCm39) |
Y354C |
probably damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,320,348 (GRCm39) |
S1448P |
probably damaging |
Het |
| Pias4 |
C |
A |
10: 81,003,565 (GRCm39) |
|
probably benign |
Het |
| Ppp1r12b |
T |
C |
1: 134,830,200 (GRCm39) |
N113S |
probably benign |
Het |
| Ptpn12 |
G |
T |
5: 21,203,656 (GRCm39) |
P374Q |
probably damaging |
Het |
| Reg4 |
A |
T |
3: 98,132,011 (GRCm39) |
|
probably benign |
Het |
| Sh3bp5 |
T |
C |
14: 31,099,473 (GRCm39) |
D256G |
probably damaging |
Het |
| Slc25a32 |
C |
G |
15: 38,976,015 (GRCm39) |
|
probably benign |
Het |
| Tnip2 |
C |
T |
5: 34,671,003 (GRCm39) |
R80Q |
possibly damaging |
Het |
| Uroc1 |
A |
G |
6: 90,321,049 (GRCm39) |
|
probably null |
Het |
| Washc2 |
A |
C |
6: 116,218,457 (GRCm39) |
K634T |
probably damaging |
Het |
| Xpot |
A |
T |
10: 121,443,513 (GRCm39) |
Y405N |
probably damaging |
Het |
| Yes1 |
T |
C |
5: 32,816,417 (GRCm39) |
Y365H |
probably benign |
Het |
| Zfp607a |
A |
T |
7: 27,577,536 (GRCm39) |
E202V |
probably damaging |
Het |
| Zfp932 |
T |
C |
5: 110,144,480 (GRCm39) |
|
probably benign |
Het |
| Zfp947 |
A |
C |
17: 22,364,363 (GRCm39) |
M437R |
probably benign |
Het |
| Zscan10 |
A |
G |
17: 23,828,366 (GRCm39) |
T303A |
probably benign |
Het |
|
| Other mutations in Ncf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
R7048:Ncf2
|
UTSW |
1 |
152,683,921 (GRCm39) |
missense |
probably benign |
|
|
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'- ACACTGGTCTTGTAGGCAGTAAG -3'
(R):5'- GCCATGGGTAGAAACAGCAC -3'
Sequencing Primer
(F):5'- GATGTGGAATTAGAGTGAGTGCC -3'
(R):5'- GCACACAGATGATGACCTTTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation