Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01789:Nos2'

155162

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nos2

Ensembl Gene

ENSMUSG00000020826

Gene Name

nitric oxide synthase 2, inducible

Synonyms

Nos2a, NOS-II, Nos-2, iNOS

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01789

Quality Score

Status

Chromosome

Chromosomal Location

78811613-78851052 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 78835483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018610] [ENSMUST00000214397]

AlphaFold

P29477

Predicted Effect

probably benign
Transcript: ENSMUST00000018610

SMART Domains

Protein: ENSMUSP00000018610
Gene: ENSMUSG00000020826

Domain	Start	End	E-Value	Type
Pfam:NO_synthase	129	491	6.7e-189	PFAM
Pfam:Flavodoxin_1	535	666	5.5e-43	PFAM
Pfam:FAD_binding_1	719	941	8.8e-79	PFAM
Pfam:NAD_binding_1	973	1087	4.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214397

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. This gene encodes a nitric oxide synthase that is inducible by a combination of lipopolysaccharide and certain cytokines. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous deletion of this gene alters susceptibility to infection, response to injury, sepsis and sensory stimuli, cardiac function, osteoclast, platelet and mammary gland physiology, tumor growth, testis and uterus morphology, diet-induced atherosclerosis, and blood, urine and glucose metabolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afm	C	T	5: 90,673,443 (GRCm39)	P232S	probably benign	Het
Atp11b	A	T	3: 35,843,741 (GRCm39)	Q81L	possibly damaging	Het
Cgn	G	A	3: 94,683,528 (GRCm39)	P413S	possibly damaging	Het
Eps8	C	T	6: 137,516,364 (GRCm39)	M5I	probably benign	Het
Fam83h	A	T	15: 75,877,969 (GRCm39)	M143K	probably damaging	Het
Gzf1	G	A	2: 148,525,981 (GRCm39)	A151T	probably benign	Het
Hmcn1	C	T	1: 150,566,352 (GRCm39)	C2217Y	probably damaging	Het
Leo1	T	C	9: 75,361,896 (GRCm39)		probably benign	Het
Lipm	A	G	19: 34,096,147 (GRCm39)	D321G	probably damaging	Het
Phtf2	T	C	5: 20,999,372 (GRCm39)	Y257C	probably benign	Het
Rnpep	T	C	1: 135,195,833 (GRCm39)	K359E	possibly damaging	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Tas2r130	T	A	6: 131,607,118 (GRCm39)	S226C	probably damaging	Het
Tpbg	A	T	9: 85,726,954 (GRCm39)	M308L	probably benign	Het
Trip11	G	A	12: 101,838,090 (GRCm39)	S1715L	probably benign	Het
Unc13b	T	A	4: 43,239,462 (GRCm39)	N3508K	probably damaging	Het
Utp20	A	T	10: 88,634,141 (GRCm39)		probably null	Het
Wdhd1	A	T	14: 47,512,274 (GRCm39)	M39K	probably benign	Het

Other mutations in Nos2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01388:Nos2	APN	11	78,848,278 (GRCm39)	missense	probably damaging	0.96
IGL01503:Nos2	APN	11	78,836,689 (GRCm39)	splice site	probably benign
IGL02797:Nos2	APN	11	78,831,170 (GRCm39)	missense	probably damaging	1.00
IGL02968:Nos2	APN	11	78,828,463 (GRCm39)	missense	probably damaging	1.00
R6762_Nos2_754	UTSW	11	78,850,574 (GRCm39)	missense	possibly damaging	0.90
R0035:Nos2	UTSW	11	78,836,553 (GRCm39)	missense	probably damaging	1.00
R0265:Nos2	UTSW	11	78,828,428 (GRCm39)	missense	probably damaging	0.98
R0441:Nos2	UTSW	11	78,819,409 (GRCm39)	missense	probably benign	0.10
R0504:Nos2	UTSW	11	78,830,903 (GRCm39)	missense	probably damaging	1.00
R0570:Nos2	UTSW	11	78,826,187 (GRCm39)	missense	possibly damaging	0.49
R1356:Nos2	UTSW	11	78,843,629 (GRCm39)	missense	probably benign	0.00
R1538:Nos2	UTSW	11	78,847,396 (GRCm39)	missense	probably benign	0.00
R3414:Nos2	UTSW	11	78,848,414 (GRCm39)	missense	probably benign	0.14
R3418:Nos2	UTSW	11	78,850,521 (GRCm39)	missense	possibly damaging	0.47
R4279:Nos2	UTSW	11	78,820,602 (GRCm39)	missense	probably benign	0.01
R4492:Nos2	UTSW	11	78,840,921 (GRCm39)	missense	probably benign
R4632:Nos2	UTSW	11	78,848,417 (GRCm39)	missense	possibly damaging	0.95
R4686:Nos2	UTSW	11	78,819,456 (GRCm39)	missense	possibly damaging	0.65
R5038:Nos2	UTSW	11	78,813,140 (GRCm39)	missense	probably benign
R5214:Nos2	UTSW	11	78,846,267 (GRCm39)	missense	probably damaging	1.00
R5377:Nos2	UTSW	11	78,848,317 (GRCm39)	missense	probably benign	0.00
R5777:Nos2	UTSW	11	78,830,978 (GRCm39)	missense	probably null	1.00
R5834:Nos2	UTSW	11	78,819,405 (GRCm39)	missense	probably benign	0.01
R5930:Nos2	UTSW	11	78,828,741 (GRCm39)	missense	probably damaging	1.00
R6511:Nos2	UTSW	11	78,846,290 (GRCm39)	splice site	probably null
R6706:Nos2	UTSW	11	78,835,549 (GRCm39)	missense	possibly damaging	0.60
R6747:Nos2	UTSW	11	78,843,780 (GRCm39)	missense	probably damaging	0.99
R6762:Nos2	UTSW	11	78,850,574 (GRCm39)	missense	possibly damaging	0.90
R6817:Nos2	UTSW	11	78,836,092 (GRCm39)	missense	possibly damaging	0.64
R6868:Nos2	UTSW	11	78,848,332 (GRCm39)	missense	probably benign	0.02
R6917:Nos2	UTSW	11	78,842,053 (GRCm39)	missense	possibly damaging	0.50
R7082:Nos2	UTSW	11	78,819,405 (GRCm39)	missense	probably benign	0.02
R7286:Nos2	UTSW	11	78,820,680 (GRCm39)	missense	probably damaging	1.00
R7367:Nos2	UTSW	11	78,840,916 (GRCm39)	missense	possibly damaging	0.77
R7398:Nos2	UTSW	11	78,827,297 (GRCm39)	nonsense	probably null
R7411:Nos2	UTSW	11	78,835,681 (GRCm39)	critical splice donor site	probably null
R7469:Nos2	UTSW	11	78,843,797 (GRCm39)	missense	possibly damaging	0.94
R7736:Nos2	UTSW	11	78,813,192 (GRCm39)	nonsense	probably null
R8694:Nos2	UTSW	11	78,836,515 (GRCm39)	missense	possibly damaging	0.93
R8832:Nos2	UTSW	11	78,846,290 (GRCm39)	splice site	probably null
R8872:Nos2	UTSW	11	78,839,949 (GRCm39)	missense	probably damaging	0.99
R8952:Nos2	UTSW	11	78,836,089 (GRCm39)	missense	probably benign	0.00
R9433:Nos2	UTSW	11	78,850,490 (GRCm39)	missense	probably damaging	1.00
R9580:Nos2	UTSW	11	78,828,457 (GRCm39)	missense	probably benign	0.01
R9612:Nos2	UTSW	11	78,839,984 (GRCm39)	missense	probably damaging	1.00
R9727:Nos2	UTSW	11	78,843,825 (GRCm39)	missense	possibly damaging	0.51
R9747:Nos2	UTSW	11	78,822,472 (GRCm39)	missense	probably damaging	0.96
X0063:Nos2	UTSW	11	78,813,193 (GRCm39)	missense	probably benign	0.01
Z1177:Nos2	UTSW	11	78,822,498 (GRCm39)	missense	probably benign

Posted On

2014-02-04