Mutagenetix > Incidental Mutation

Incidental Mutation 'R1873:Ncf2'

210915

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

039895-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R1873 (G1)

Quality Score

108

Status

Validated

Chromosome

Chromosomal Location

152675945-152712742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152701661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 213 (N213S)

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: N213S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027754
Gene: ENSMUSG00000026480
AA Change: N213S

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

probably benign
Transcript: ENSMUST00000186568
AA Change: N213S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140404
Gene: ENSMUSG00000026480
AA Change: N213S

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

noncoding transcript
Transcript: ENSMUST00000187235

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189135

Predicted Effect

probably benign
Transcript: ENSMUST00000190323

SMART Domains

Protein: ENSMUSP00000139774
Gene: ENSMUSG00000026480

Domain	Start	End	E-Value	Type
Pfam:TPR_1	1	26	5.8e-4	PFAM
low complexity region	54	69	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 92.9%

Validation Efficiency

98% (82/84)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,870,781 (GRCm39)	I124L	probably benign	Het
Abi3bp	A	G	16: 56,394,862 (GRCm39)	Y190C	probably damaging	Het
Adam34	A	C	8: 44,104,843 (GRCm39)	N267K	probably benign	Het
Anxa5	T	C	3: 36,503,551 (GRCm39)	D301G	probably damaging	Het
Atf7ip	G	T	6: 136,536,886 (GRCm39)	D40Y	probably damaging	Het
Cacna2d2	T	G	9: 107,391,071 (GRCm39)	M400R	probably damaging	Het
Cd96	C	A	16: 45,938,335 (GRCm39)	L43F	probably damaging	Het
Cep120	T	C	18: 53,871,560 (GRCm39)	E104G	probably damaging	Het
Cfap221	T	C	1: 119,881,389 (GRCm39)	I358V	probably benign	Het
Cfhr4	C	T	1: 139,702,398 (GRCm39)	E29K	probably damaging	Het
Chil4	C	T	3: 106,113,414 (GRCm39)	E168K	probably benign	Het
Clca3a1	A	G	3: 144,452,590 (GRCm39)	V631A	probably damaging	Het
Cluh	C	T	11: 74,552,902 (GRCm39)	A649V	possibly damaging	Het
Commd9	A	G	2: 101,727,502 (GRCm39)	T99A	probably benign	Het
Csgalnact1	T	C	8: 68,854,036 (GRCm39)	N255S	probably benign	Het
Cyth3	T	A	5: 143,683,516 (GRCm39)	H138Q	possibly damaging	Het
Dnah7a	A	T	1: 53,495,691 (GRCm39)		probably benign	Het
Fbxl18	G	A	5: 142,871,978 (GRCm39)	A419V	probably damaging	Het
Fyco1	A	G	9: 123,652,303 (GRCm39)	V1135A	probably benign	Het
Glcci1	C	A	6: 8,537,837 (GRCm39)	H152N	probably benign	Het
Gm10477	T	A	X: 55,570,127 (GRCm39)	F9Y	probably damaging	Het
Gnrhr	A	G	5: 86,330,060 (GRCm39)	L320P	probably damaging	Het
Gorasp1	A	T	9: 119,759,306 (GRCm39)	S138T	probably benign	Het
Hars1	C	A	18: 36,900,294 (GRCm39)	Q469H	probably damaging	Het
Homer2	T	C	7: 81,286,111 (GRCm39)	K34E	probably damaging	Het
Hscb	T	C	5: 110,978,823 (GRCm39)	I198V	probably benign	Het
Kat6b	T	C	14: 21,567,057 (GRCm39)	S39P	probably damaging	Het
Kcnk12	G	T	17: 88,053,499 (GRCm39)	Q388K	probably damaging	Het
Kcnq3	A	G	15: 65,874,104 (GRCm39)	I548T	probably benign	Het
Mark2	A	G	19: 7,261,880 (GRCm39)	Y351H	probably damaging	Het
Masp2	A	T	4: 148,698,952 (GRCm39)	I678F	probably damaging	Het
Mc4r	A	T	18: 66,992,531 (GRCm39)	I194N	probably damaging	Het
Ms4a6d	A	G	19: 11,579,223 (GRCm39)	S85P	probably damaging	Het
Myh4	T	A	11: 67,145,569 (GRCm39)	Y1351N	probably benign	Het
Myo16	A	G	8: 10,322,789 (GRCm39)	D73G	probably damaging	Het
Mzt1	C	T	14: 99,278,097 (GRCm39)		probably null	Het
Nalcn	G	A	14: 123,521,013 (GRCm39)	H1631Y	probably benign	Het
Nf1	C	A	11: 79,437,987 (GRCm39)	T99K	probably damaging	Het
Nsf	T	C	11: 103,749,843 (GRCm39)	S547G	probably damaging	Het
Ntrk3	T	A	7: 78,112,587 (GRCm39)	I190F	probably benign	Het
Obsl1	T	C	1: 75,474,877 (GRCm39)	Y841C	probably damaging	Het
Ogdh	A	T	11: 6,290,438 (GRCm39)		probably benign	Het
Or2ag12	T	A	7: 106,277,691 (GRCm39)	M1L	probably damaging	Het
Or5b12	C	T	19: 12,896,852 (GRCm39)	V274M	probably damaging	Het
Otog	G	A	7: 45,918,767 (GRCm39)	V948I	probably damaging	Het
Plekhm1	T	C	11: 103,264,824 (GRCm39)	D880G	probably benign	Het
Pnliprp2	G	T	19: 58,751,821 (GRCm39)	V189L	probably benign	Het
Polg	A	G	7: 79,106,241 (GRCm39)	L678S	probably benign	Het
Ptprm	C	T	17: 66,995,350 (GRCm39)	V1293I	probably damaging	Het
Pwwp3a	T	A	10: 80,068,442 (GRCm39)	D195E	possibly damaging	Het
Rhou	A	T	8: 124,387,990 (GRCm39)	R241W	probably damaging	Het
Rtn4	A	T	11: 29,686,437 (GRCm39)	N264I	probably damaging	Het
Sez6l	T	C	5: 112,621,276 (GRCm39)		probably benign	Het
Sost	T	C	11: 101,855,069 (GRCm39)	E80G	probably damaging	Het
Spag16	C	T	1: 69,935,744 (GRCm39)		probably benign	Het
Speer4f2	A	T	5: 17,579,447 (GRCm39)	N82I	probably damaging	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
Taf1b	T	A	12: 24,606,668 (GRCm39)	L496Q	possibly damaging	Het
Tarbp1	A	G	8: 127,173,786 (GRCm39)	I976T	probably damaging	Het
Tex14	T	A	11: 87,390,431 (GRCm39)	V376D	probably damaging	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tm9sf1	T	C	14: 55,873,680 (GRCm39)	D606G	probably damaging	Het
Tmc2	A	C	2: 130,090,676 (GRCm39)	N674T	possibly damaging	Het
Top3a	C	A	11: 60,638,810 (GRCm39)	E562*	probably null	Het
Umodl1	A	T	17: 31,201,238 (GRCm39)	D389V	probably damaging	Het
Uso1	T	C	5: 92,340,718 (GRCm39)		probably benign	Het
Vmn1r205	A	G	13: 22,776,223 (GRCm39)	V293A	possibly damaging	Het
Vmn2r107	A	G	17: 20,565,840 (GRCm39)	T52A	probably benign	Het
Vmn2r4	C	T	3: 64,298,479 (GRCm39)	V461I	possibly damaging	Het
Vmn2r99	A	T	17: 19,582,415 (GRCm39)	I7F	probably benign	Het
Vps11	A	G	9: 44,271,233 (GRCm39)	F80S	probably damaging	Het
Wdr43	A	G	17: 71,940,647 (GRCm39)	S258G	probably benign	Het
Zbtb24	A	G	10: 41,327,123 (GRCm39)	D3G	probably benign	Het
Zc3hav1	C	T	6: 38,309,692 (GRCm39)	V377I	possibly damaging	Het
Zfp668	T	C	7: 127,465,654 (GRCm39)		probably null	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
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'- AGAGGTGCCTTACTTCCCAC -3'
(R):5'- TCAGTGGATCTCTTAGGACCAC -3'

Sequencing Primer
(F):5'- CCTCCCTCCAAAAGCTACCTGAG -3'
(R):5'- ATCTCTTAGGACCACCGGCAG -3'

Posted On

2014-06-30