Mutagenetix > Incidental Mutation

Incidental Mutation 'R6385:Ncf2'

515532

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

044534-MU

Accession Numbers

Essential gene?

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

Stock #

R6385 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152675945-152712742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 152706173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 262 (M262L)

Ref Sequence

ENSEMBL: ENSMUSP00000140404 (fasta)

Gene Model

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

AlphaFold

O70145

Predicted Effect

probably benign
Transcript: ENSMUST00000027754
AA Change: M262L

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

SMART Domains

Protein: ENSMUSP00000027754
Gene: ENSMUSG00000026480
AA Change: M262L

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: M262L

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

SMART Domains

Protein: ENSMUSP00000140404
Gene: ENSMUSG00000026480
AA Change: M262L

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

Meta Mutation Damage Score

0.0775

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

98% (55/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,236 (GRCm39)	M910L	probably benign	Het
Abca9	T	A	11: 110,025,080 (GRCm39)	I988F	probably damaging	Het
Adgra2	A	T	8: 27,608,878 (GRCm39)	S92C	probably damaging	Het
Apon	A	G	10: 128,090,223 (GRCm39)		probably benign	Het
Arap3	G	A	18: 38,130,084 (GRCm39)	R26*	probably null	Het
Btnl6	T	G	17: 34,727,343 (GRCm39)	I396L	probably benign	Het
Catsper3	G	T	13: 55,934,239 (GRCm39)	Q53H	probably damaging	Het
Cep164	T	G	9: 45,691,081 (GRCm39)	E372A	probably damaging	Het
Cln3	A	T	7: 126,174,207 (GRCm39)	C339S	probably null	Het
Cntnap2	G	A	6: 46,833,114 (GRCm39)	D776N	probably benign	Het
Cttnbp2nl	A	G	3: 104,912,952 (GRCm39)	F311L	probably benign	Het
Daam2	C	T	17: 49,770,964 (GRCm39)	A918T	probably damaging	Het
Dst	T	C	1: 34,346,549 (GRCm39)	V7353A	possibly damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fanca	A	T	8: 124,032,606 (GRCm39)		probably null	Het
Filip1	G	T	9: 79,727,813 (GRCm39)	Q269K	possibly damaging	Het
Fut9	G	A	4: 25,620,328 (GRCm39)	S162L	probably damaging	Het
Gtf2ird1	A	T	5: 134,433,544 (GRCm39)	H294Q	probably benign	Het
Gucy1a1	A	G	3: 82,016,313 (GRCm39)	I225T	probably benign	Het
H2-DMb1	T	A	17: 34,374,576 (GRCm39)	N75K	probably benign	Het
Helz2	C	T	2: 180,875,260 (GRCm39)	E1745K	probably damaging	Het
Hes1	A	G	16: 29,884,424 (GRCm39)	M6V	possibly damaging	Het
Hydin	A	T	8: 111,038,856 (GRCm39)	H198L	possibly damaging	Het
Iars1	T	C	13: 49,855,371 (GRCm39)	L266P	probably damaging	Het
Ifna11	A	G	4: 88,738,386 (GRCm39)	E64G	probably damaging	Het
Inpp5d	T	A	1: 87,627,397 (GRCm39)	L566Q	probably damaging	Het
Kcnh3	T	C	15: 99,125,822 (GRCm39)	S160P	probably benign	Het
Lama5	T	C	2: 179,838,326 (GRCm39)	T850A	probably damaging	Het
Lgi3	A	G	14: 70,768,610 (GRCm39)	T36A	possibly damaging	Het
Lrp2	T	C	2: 69,326,128 (GRCm39)	S1810G	probably benign	Het
Lypd10	A	T	7: 24,413,535 (GRCm39)	I184F	probably damaging	Het
Msln	T	A	17: 25,970,115 (GRCm39)	D280V	probably benign	Het
Myh4	A	T	11: 67,146,663 (GRCm39)	I1513F	probably damaging	Het
Neb	G	T	2: 52,075,311 (GRCm39)	A218D	probably damaging	Het
Notch4	C	A	17: 34,792,788 (GRCm39)	Q640K	probably null	Het
Or4f7	T	C	2: 111,644,964 (GRCm39)	I36V	probably benign	Het
Or52e19b	A	T	7: 103,033,104 (GRCm39)	V35D	possibly damaging	Het
Or6k6	A	T	1: 173,944,862 (GRCm39)	F240Y	probably damaging	Het
Pear1	G	T	3: 87,661,506 (GRCm39)	H562N	probably benign	Het
Poli	C	A	18: 70,663,072 (GRCm39)		probably benign	Het
Ppp3r2	A	G	4: 49,681,767 (GRCm39)	I61T	possibly damaging	Het
Rfc5	T	C	5: 117,523,463 (GRCm39)	T112A	probably benign	Het
Serhl	A	G	15: 82,985,823 (GRCm39)	T5A	probably benign	Het
Shank3	T	C	15: 89,405,578 (GRCm39)		probably null	Het
Slc22a28	A	G	19: 8,078,844 (GRCm39)	S282P	probably damaging	Het
Slc2a12	C	T	10: 22,569,929 (GRCm39)	T540I	possibly damaging	Het
Slurp2	T	C	15: 74,618,524 (GRCm39)	M1V	probably null	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Tln2	C	T	9: 67,185,411 (GRCm39)	A700T	probably benign	Het
Ttn	C	T	2: 76,748,192 (GRCm39)	V4286I	probably benign	Het
Ube2u	A	G	4: 100,389,341 (GRCm39)	K214R	possibly damaging	Het
Vmn1r46	A	G	6: 89,953,427 (GRCm39)	H92R	probably damaging	Het
Wdr90	A	G	17: 26,067,504 (GRCm39)	I1486T	probably damaging	Het
Zc3h11a	A	T	1: 133,565,192 (GRCm39)	S236T	possibly damaging	Het
Zfp318	A	G	17: 46,721,932 (GRCm39)	K1312E	probably damaging	Het
Zfp930	A	G	8: 69,681,283 (GRCm39)	Y326C	probably damaging	Het
Zfp972	G	T	2: 177,563,588 (GRCm39)	D8E	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
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
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'- ACTGGTCTTGTAGGCAGTAAGATG -3'
(R):5'- CAGCCATGGGTAGAAACAGC -3'

Sequencing Primer
(F):5'- ATGTGGAATTAGAGTGAGTGCC -3'
(R):5'- GCACACAGATGATGACCTTTG -3'

Posted On

2018-05-04