Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02141:Nppb'

281568

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nppb

Ensembl Gene

ENSMUSG00000029019

Gene Name

natriuretic peptide type B

Synonyms

BNP

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

IGL02141

Quality Score

Status

Chromosome

Chromosomal Location

147985788-147987205 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 147986006 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 11 (I11F)

Ref Sequence

ENSEMBL: ENSMUSP00000099521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103231]

AlphaFold

P40753

Predicted Effect

probably benign
Transcript: ENSMUST00000103231
AA Change: I11F

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099521
Gene: ENSMUSG00000029019
AA Change: I11F

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
NAT_PEP	92	115	9.45e-6	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a secreted protein that belongs to the family of natriuretic peptides. Its precursor protein is processed to generate the active mature peptide. The mature peptide is a cardiac hormone that plays a role in ventricular remodeling as well as blood pressure regulation. Mice lacking this gene exhibit cardiac fibrosis. In humans this gene is associated with congestive heart failure, low bone-mineral density and postmenopausal osteoporosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygotes for a targeted null mutation develop multifocal fibrotic ventricular lesions which become larger and more numerous under conditions of ventricular pressure overload. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	C	T	5: 146,183,465 (GRCm38)	A188T	probably benign	Het
2310022B05Rik	A	T	8: 124,637,906 (GRCm38)		probably benign	Het
4931423N10Rik	T	C	2: 23,230,200 (GRCm38)	F203L	probably damaging	Het
Atf6b	C	A	17: 34,653,277 (GRCm38)	H539Q	probably benign	Het
Bmal2	T	A	6: 146,828,095 (GRCm38)		probably benign	Het
Bpifb5	G	T	2: 154,229,557 (GRCm38)		probably null	Het
Cep89	T	A	7: 35,420,924 (GRCm38)	M377K	probably damaging	Het
Clpx	G	T	9: 65,312,118 (GRCm38)		probably null	Het
Cops5	T	C	1: 10,035,117 (GRCm38)	K47E	probably damaging	Het
Cryba2	T	C	1: 74,892,784 (GRCm38)	N35S	probably benign	Het
Ddx27	A	G	2: 167,020,523 (GRCm38)	K162E	possibly damaging	Het
Dhx36	A	G	3: 62,493,889 (GRCm38)	S319P	probably benign	Het
Dram2	A	G	3: 106,571,696 (GRCm38)		probably benign	Het
Eci2	T	A	13: 34,978,673 (GRCm38)	T300S	probably benign	Het
Egf	C	A	3: 129,739,982 (GRCm38)	G70*	probably null	Het
Eif5b	T	C	1: 38,032,322 (GRCm38)	V444A	probably benign	Het
Elf3	T	C	1: 135,257,707 (GRCm38)	D23G	possibly damaging	Het
Epb41l4b	A	T	4: 57,103,422 (GRCm38)		probably null	Het
Fam167a	T	A	14: 63,452,259 (GRCm38)	S2T	probably benign	Het
Flrt3	A	G	2: 140,660,688 (GRCm38)	V340A	probably damaging	Het
Gimap3	T	C	6: 48,765,378 (GRCm38)	E206G	probably benign	Het
Gp6	T	C	7: 4,394,104 (GRCm38)		probably benign	Het
Gpr158	A	T	2: 21,783,290 (GRCm38)	M581L	probably damaging	Het
Hapln3	A	G	7: 79,118,145 (GRCm38)	V167A	probably damaging	Het
Hnrnpll	G	A	17: 80,050,713 (GRCm38)	T203I	probably benign	Het
Ighv3-6	A	G	12: 114,288,362 (GRCm38)	I47T	probably damaging	Het
Iqgap1	G	A	7: 80,738,121 (GRCm38)	T926M	probably damaging	Het
Lonp1	A	T	17: 56,615,086 (GRCm38)	S765T	probably benign	Het
Lpp	C	T	16: 24,761,615 (GRCm38)	S27F	probably damaging	Het
Lrit2	T	C	14: 37,068,074 (GRCm38)		probably benign	Het
Luc7l	C	A	17: 26,253,080 (GRCm38)	T17K	probably damaging	Het
Mmut	A	G	17: 40,938,817 (GRCm38)	T228A	possibly damaging	Het
Mroh1	G	T	15: 76,446,599 (GRCm38)	S1161I	possibly damaging	Het
Muc5b	T	G	7: 141,853,367 (GRCm38)	C1091G	unknown	Het
Nsf	A	T	11: 103,828,525 (GRCm38)	D650E	probably benign	Het
Ogdh	A	G	11: 6,355,015 (GRCm38)	K907E	probably damaging	Het
Or1b1	G	A	2: 37,105,425 (GRCm38)	S75F	probably benign	Het
Or1j15	A	G	2: 36,568,808 (GRCm38)	D70G	probably damaging	Het
Or7a35	A	G	10: 79,017,721 (GRCm38)	Y133C	probably damaging	Het
Pcnx1	A	T	12: 81,860,382 (GRCm38)	Q4L	possibly damaging	Het
Pgc	T	A	17: 47,726,931 (GRCm38)	L9H	probably damaging	Het
Pikfyve	T	A	1: 65,246,397 (GRCm38)	S887T	probably benign	Het
Plec	T	C	15: 76,175,615 (GRCm38)	D3239G	probably damaging	Het
Pole4	T	C	6: 82,648,034 (GRCm38)	T116A	probably benign	Het
Prpf8	A	G	11: 75,490,672 (GRCm38)	N300D	possibly damaging	Het
Rara	T	A	11: 98,968,081 (GRCm38)	Y119N	probably damaging	Het
Rbck1	G	T	2: 152,318,374 (GRCm38)	R462S	possibly damaging	Het
Setdb2	C	T	14: 59,402,315 (GRCm38)	R709Q	probably damaging	Het
Slfn2	C	A	11: 83,069,844 (GRCm38)	N216K	probably benign	Het
Suox	A	G	10: 128,672,098 (GRCm38)		probably benign	Het
Tars1	T	A	15: 11,391,194 (GRCm38)	Y283F	probably damaging	Het
Trpm4	A	T	7: 45,318,179 (GRCm38)		probably null	Het
Ubtd2	A	T	11: 32,499,262 (GRCm38)	K36N	probably benign	Het
Unkl	T	C	17: 25,229,434 (GRCm38)	L327P	probably damaging	Het
Vmn1r11	T	A	6: 57,137,379 (GRCm38)	Y9*	probably null	Het
Vps13b	T	C	15: 35,572,081 (GRCm38)	V948A	probably benign	Het
Zbtb17	A	G	4: 141,464,953 (GRCm38)	H403R	probably damaging	Het

Other mutations in Nppb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2132:Nppb	UTSW	4	147,985,997 (GRCm38)	missense	probably benign	0.06
R4167:Nppb	UTSW	4	147,986,974 (GRCm38)	nonsense	probably null
R4687:Nppb	UTSW	4	147,986,296 (GRCm38)	missense	probably benign	0.12
R5430:Nppb	UTSW	4	147,986,381 (GRCm38)	missense	probably benign
R6666:Nppb	UTSW	4	147,986,006 (GRCm38)	missense	probably benign	0.00
R7299:Nppb	UTSW	4	147,986,323 (GRCm38)	missense	probably benign	0.40
R7301:Nppb	UTSW	4	147,986,323 (GRCm38)	missense	probably benign	0.40
R8347:Nppb	UTSW	4	147,986,299 (GRCm38)	missense	probably damaging	0.99
R9345:Nppb	UTSW	4	147,986,061 (GRCm38)	missense	probably damaging	0.99
R9658:Nppb	UTSW	4	147,986,494 (GRCm38)	missense	possibly damaging	0.59

Posted On

2015-04-16