Mutagenetix > Incidental Mutation

Incidental Mutation 'R1640:Ncf2'

173419

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

039676-MU

Accession Numbers

Essential gene?

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

Stock #

R1640 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152675945-152712742 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 152683784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000140404 (fasta)

Gene Model

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

AlphaFold

O70145

Predicted Effect

probably null
Transcript: ENSMUST00000027754
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027754
Gene: ENSMUSG00000026480
AA Change: M1K

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 null
Transcript: ENSMUST00000186568
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140404
Gene: ENSMUSG00000026480
AA Change: M1K

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: ENSMUST00000187641

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.2%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	C	A	8: 125,566,584 (GRCm39)	V279L	probably damaging	Het
Acot6	A	T	12: 84,147,900 (GRCm39)	Y52F	probably damaging	Het
Adam22	C	T	5: 8,195,689 (GRCm39)	V284I	probably damaging	Het
Agl	A	T	3: 116,545,739 (GRCm39)	H1352Q	probably benign	Het
Aldh18a1	G	A	19: 40,573,943 (GRCm39)	P27S	probably benign	Het
C1ra	A	G	6: 124,499,233 (GRCm39)	N473S	probably benign	Het
C87436	T	C	6: 86,423,233 (GRCm39)	L269P	probably damaging	Het
Calcrl	A	G	2: 84,164,021 (GRCm39)	V390A	probably damaging	Het
Ccp110	T	G	7: 118,314,751 (GRCm39)		probably null	Het
Cerk	A	G	15: 86,033,601 (GRCm39)	V274A	probably damaging	Het
Chd1l	A	T	3: 97,488,307 (GRCm39)	S570T	probably benign	Het
Chst14	T	A	2: 118,757,379 (GRCm39)	W83R	probably damaging	Het
Chsy1	A	T	7: 65,821,262 (GRCm39)	D499V	probably benign	Het
Ckmt1	C	A	2: 121,190,198 (GRCm39)		probably null	Het
Cnot1	A	T	8: 96,496,460 (GRCm39)	V282D	probably damaging	Het
Cntn3	A	T	6: 102,218,974 (GRCm39)	S549T	possibly damaging	Het
Cntnap5c	A	T	17: 58,702,289 (GRCm39)	D1203V	probably benign	Het
Col4a4	A	G	1: 82,513,491 (GRCm39)	Y169H	unknown	Het
Cwc22	A	G	2: 77,745,874 (GRCm39)	F454S	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dhrs7	A	T	12: 72,699,089 (GRCm39)	W298R	possibly damaging	Het
Dock7	G	T	4: 98,833,483 (GRCm39)	T1906N	probably damaging	Het
Dpy19l3	T	C	7: 35,449,203 (GRCm39)	T67A	probably benign	Het
Drc1	A	G	5: 30,521,301 (GRCm39)	D654G	possibly damaging	Het
Ech1	A	T	7: 28,531,264 (GRCm39)	H284L	probably damaging	Het
Epc1	G	A	18: 6,441,175 (GRCm39)	Q8*	probably null	Het
Etv5	A	T	16: 22,254,664 (GRCm39)	D65E	probably damaging	Het
F2rl3	A	G	8: 73,489,534 (GRCm39)	R254G	probably benign	Het
Fabp5	T	G	3: 10,080,170 (GRCm39)	F73L	probably benign	Het
Fbrs	T	C	7: 127,086,483 (GRCm39)	I611T	probably damaging	Het
Flnc	T	C	6: 29,433,806 (GRCm39)	S117P	possibly damaging	Het
Frmd4b	A	C	6: 97,285,634 (GRCm39)	S291A	possibly damaging	Het
Galnt13	A	G	2: 54,950,558 (GRCm39)	Y413C	probably damaging	Het
Gfer	A	G	17: 24,914,337 (GRCm39)	Y109H	possibly damaging	Het
Gli2	T	C	1: 118,764,254 (GRCm39)	H1299R	possibly damaging	Het
Gm10110	T	C	14: 90,135,679 (GRCm39)		noncoding transcript	Het
Gprc5a	T	G	6: 135,055,652 (GRCm39)	L33W	probably damaging	Het
Grin3a	T	C	4: 49,844,721 (GRCm39)	T121A	probably benign	Het
Grk3	A	G	5: 113,163,248 (GRCm39)	V33A	probably benign	Het
Hc	A	T	2: 34,947,336 (GRCm39)	Y59*	probably null	Het
Hrnr	A	G	3: 93,239,823 (GRCm39)	I3354V	unknown	Het
Hyou1	C	G	9: 44,300,703 (GRCm39)	T924S	probably benign	Het
Ifi209	T	G	1: 173,464,931 (GRCm39)	H20Q	probably damaging	Het
Ifi44	A	G	3: 151,438,171 (GRCm39)	V372A	probably benign	Het
Igdcc4	T	A	9: 65,030,077 (GRCm39)	L328H	probably damaging	Het
Jkampl	A	G	6: 73,445,869 (GRCm39)	Y227H	probably benign	Het
Kif18a	A	G	2: 109,120,161 (GRCm39)	T155A	probably benign	Het
Kmt2d	A	G	15: 98,742,938 (GRCm39)		probably benign	Het
Kri1	T	C	9: 21,191,753 (GRCm39)	D281G	possibly damaging	Het
Larp1b	T	A	3: 40,988,507 (GRCm39)	M1K	probably null	Het
Loxhd1	A	G	18: 77,490,259 (GRCm39)	D1225G	probably damaging	Het
Mzf1	A	G	7: 12,777,197 (GRCm39)	*736Q	probably null	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Or5t15	T	A	2: 86,681,571 (GRCm39)	H157L	probably benign	Het
Or8h10	A	C	2: 86,808,963 (GRCm39)	M59R	probably damaging	Het
Parp12	T	C	6: 39,073,574 (GRCm39)	D417G	probably benign	Het
Parp12	T	C	6: 39,088,612 (GRCm39)	H208R	probably damaging	Het
Pcif1	T	C	2: 164,727,603 (GRCm39)	I132T	probably benign	Het
Pck2	A	G	14: 55,786,041 (GRCm39)	D610G	possibly damaging	Het
Plbd1	T	C	6: 136,617,123 (GRCm39)	K185E	probably benign	Het
Ppp2r5a	T	C	1: 191,086,126 (GRCm39)	M425V	probably damaging	Het
Rapgef6	T	A	11: 54,548,231 (GRCm39)	V805D	probably damaging	Het
Rprd2	C	T	3: 95,671,059 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,731,178 (GRCm39)	S711P	probably damaging	Het
Slc17a3	T	A	13: 24,036,340 (GRCm39)	L212*	probably null	Het
Slc4a8	A	G	15: 100,681,668 (GRCm39)	D41G	probably benign	Het
Slc9a3	T	A	13: 74,306,937 (GRCm39)	V354E	probably damaging	Het
Spen	A	G	4: 141,196,254 (GRCm39)	I3632T	probably damaging	Het
Tesc	A	G	5: 118,192,914 (GRCm39)	S77G	probably benign	Het
Tet3	A	T	6: 83,346,297 (GRCm39)	V1245D	probably benign	Het
Tox4	T	A	14: 52,530,000 (GRCm39)	D553E	possibly damaging	Het
Tpmt	A	T	13: 47,180,759 (GRCm39)	Y193*	probably null	Het
Trio	T	C	15: 27,833,130 (GRCm39)	Y1169C	probably damaging	Het
Urb1	G	A	16: 90,569,514 (GRCm39)	T1404I	probably benign	Het
Usp47	T	C	7: 111,682,334 (GRCm39)	S540P	probably damaging	Het
Vmn1r178	A	T	7: 23,593,548 (GRCm39)	M126L	possibly damaging	Het
Vmn1r223	T	C	13: 23,434,348 (GRCm39)	F314S	probably damaging	Het
Vmn2r112	A	T	17: 22,824,097 (GRCm39)	I451L	probably benign	Het
Zfc3h1	A	G	10: 115,242,806 (GRCm39)		probably null	Het
Zfp503	A	T	14: 22,034,969 (GRCm39)	L649Q	probably damaging	Het
Zfp977	A	C	7: 42,229,530 (GRCm39)	C332G	probably 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
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
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'- TCTTAGAGGAACTGACCAGCCCAC -3'
(R):5'- TTCCAGGATAGTGTTCACGCAGCC -3'

Sequencing Primer
(F):5'- CTCATGCTAGTTTATGCGTCAG -3'
(R):5'- TCACGCAGCCTATGTTGAAG -3'

Posted On

2014-04-24