Mutagenetix > Incidental Mutation

Incidental Mutation 'R5841:Ncf2'

501613

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

044061-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R5841 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152675945-152712742 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 152697269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027754] [ENSMUST00000186568] [ENSMUST00000190323]

AlphaFold

O70145

Predicted Effect

silent
Transcript: ENSMUST00000027754

SMART Domains

Protein: ENSMUSP00000027754
Gene: ENSMUSG00000026480

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

silent
Transcript: ENSMUST00000186568

SMART Domains

Protein: ENSMUSP00000140404
Gene: ENSMUSG00000026480

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

silent
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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (67/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	T	1: 75,150,994 (GRCm39)	F565L	possibly damaging	Het
Abhd6	T	A	14: 8,049,596 (GRCm38)	V188D	probably benign	Het
Bbs12	T	G	3: 37,373,670 (GRCm39)	N39K	probably benign	Het
Bend5	A	G	4: 111,290,667 (GRCm39)	Y221C	probably damaging	Het
Brd8	A	G	18: 34,738,576 (GRCm39)	S683P	probably damaging	Het
Caskin1	A	G	17: 24,715,183 (GRCm39)	D79G	probably damaging	Het
Cdyl	T	C	13: 36,056,544 (GRCm39)	L509P	probably damaging	Het
Cenpf	G	T	1: 189,389,641 (GRCm39)	T1397N	possibly damaging	Het
Ckap5	T	A	2: 91,431,027 (GRCm39)	M1479K	probably benign	Het
Cpsf2	T	C	12: 101,951,497 (GRCm39)	S145P	probably damaging	Het
Cyp4a12a	A	T	4: 115,183,899 (GRCm39)	H235L	probably benign	Het
Cyp7b1	A	T	3: 18,151,670 (GRCm39)	F181Y	probably damaging	Het
Dennd5b	T	C	6: 148,946,253 (GRCm39)	T453A	probably benign	Het
Dlgap3	A	G	4: 127,089,193 (GRCm39)	D263G	probably damaging	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Dync2li1	G	A	17: 84,940,990 (GRCm39)	G69R	probably damaging	Het
Edc3	T	C	9: 57,651,885 (GRCm39)	V331A	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ganc	C	T	2: 120,242,020 (GRCm39)	T66I	possibly damaging	Het
Gm11595	C	A	11: 99,663,143 (GRCm39)	C179F	unknown	Het
Gnptg	A	G	17: 25,454,391 (GRCm39)	S159P	probably damaging	Het
Gsdmc2	C	T	15: 63,698,059 (GRCm39)	V349I	probably benign	Het
Hydin	T	C	8: 111,259,846 (GRCm39)	I2606T	possibly damaging	Het
Ino80d	A	G	1: 63,097,999 (GRCm39)	S632P	probably damaging	Het
Kcnn2	G	A	18: 45,692,463 (GRCm39)	R13H	probably benign	Het
Klb	A	T	5: 65,536,667 (GRCm39)	K666*	probably null	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Kpna7	T	C	5: 144,930,766 (GRCm39)	I360V	possibly damaging	Het
Lmbrd2	A	G	15: 9,182,657 (GRCm39)	K576E	possibly damaging	Het
Lrp2	T	A	2: 69,310,497 (GRCm39)	Y2692F	probably benign	Het
Meis2	T	A	2: 115,889,145 (GRCm39)	E202D	probably benign	Het
Mgat4c	A	T	10: 102,224,826 (GRCm39)	T347S	probably damaging	Het
Mmp12	G	A	9: 7,347,501 (GRCm39)	C26Y	possibly damaging	Het
Mrpl24	G	A	3: 87,830,292 (GRCm39)	R145Q	probably damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Mycbpap	T	A	11: 94,396,436 (GRCm39)	R135W	probably damaging	Het
Myo1g	T	A	11: 6,457,000 (GRCm39)	Y942F	probably benign	Het
Myrf	T	C	19: 10,200,911 (GRCm39)	K52R	probably null	Het
Nherf2	A	T	17: 24,863,851 (GRCm39)	M8K	probably benign	Het
Or51f1e	T	C	7: 102,747,161 (GRCm39)	F71S	probably damaging	Het
Otx1	T	C	11: 21,948,594 (GRCm39)		probably benign	Het
Pcnx1	T	A	12: 81,965,429 (GRCm39)	V532D	possibly damaging	Het
Pik3r5	T	C	11: 68,383,096 (GRCm39)	L305P	probably damaging	Het
Pira13	T	A	7: 3,825,898 (GRCm39)	R324*	probably null	Het
Polr3a	A	T	14: 24,500,766 (GRCm39)	C1341S	probably benign	Het
Ppp1r3a	T	C	6: 14,718,983 (GRCm39)	T644A	probably benign	Het
Pramel22	A	G	4: 143,382,109 (GRCm39)	S196P	possibly damaging	Het
Ptbp1	A	G	10: 79,695,766 (GRCm39)	D289G	probably benign	Het
Pwp2	A	G	10: 78,007,952 (GRCm39)	F868L	probably benign	Het
Rgs8	A	G	1: 153,568,574 (GRCm39)	E153G	probably damaging	Het
Rhbdf2	G	A	11: 116,493,180 (GRCm39)		probably benign	Het
Sbf1	T	C	15: 89,192,271 (GRCm39)	H78R	probably damaging	Het
Sdr16c6	C	T	4: 4,062,728 (GRCm39)	A197T	possibly damaging	Het
Slc36a3	A	T	11: 55,016,547 (GRCm39)	Y349*	probably null	Het
Slc38a9	T	C	13: 112,831,856 (GRCm39)	L202P	possibly damaging	Het
Slc40a1	A	T	1: 45,951,509 (GRCm39)	M216K	probably damaging	Het
Srebf1	T	A	11: 60,094,410 (GRCm39)	Q568H	possibly damaging	Het
Srp54b	A	G	12: 55,299,614 (GRCm39)	N315S	probably benign	Het
Strc	A	G	2: 121,196,358 (GRCm39)	F1557L	probably benign	Het
Susd3	C	A	13: 49,392,202 (GRCm39)		probably benign	Het
Usp54	G	A	14: 20,600,351 (GRCm39)	T1462I	probably benign	Het
Vmn1r11	T	A	6: 57,114,787 (GRCm39)	N150K	probably damaging	Het
Vwa8	C	T	14: 79,231,958 (GRCm39)	H606Y	probably benign	Het
Zmym6	A	G	4: 126,994,463 (GRCm39)	I206V	possibly damaging	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
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'- GTTGTTGAAGGATGCACTTGATAC -3'
(R):5'- CAAGTGGGCTCCAAGGAAAC -3'

Sequencing Primer
(F):5'- AAGGATGCACTTGATACTGGTTTTAG -3'
(R):5'- TGGGCTCCAAGGAAACCCATC -3'

Posted On

2017-12-01