Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02613:Npb'

300546

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Npb

Ensembl Gene

ENSMUSG00000044034

Gene Name

neuropeptide B

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

IGL02613

Quality Score

Status

Chromosome

Chromosomal Location

120499303-120499919 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120499716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 99 (C99S)

Ref Sequence

ENSEMBL: ENSMUSP00000101800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026128] [ENSMUST00000026129] [ENSMUST00000061309] [ENSMUST00000093140] [ENSMUST00000106188] [ENSMUST00000106194] [ENSMUST00000106195]

AlphaFold

Q8K4P1

Predicted Effect

probably benign
Transcript: ENSMUST00000026128

SMART Domains

Protein: ENSMUSP00000026128
Gene: ENSMUSG00000025135

Domain	Start	End	E-Value	Type
RING	23	76	4.48e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000026129

SMART Domains

Protein: ENSMUSP00000026129
Gene: ENSMUSG00000025137

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_like	26	152	2.6e-32	PFAM
Pfam:CTP_transf_like	235	384	8.9e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000061309
AA Change: C91S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000050092
Gene: ENSMUSG00000044034
AA Change: C91S

Domain	Start	End	E-Value	Type
Pfam:NPBW	2	107	1.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093140

SMART Domains

Protein: ENSMUSP00000097714
Gene: ENSMUSG00000025135

Domain	Start	End	E-Value	Type
RING	23	76	4.48e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000106187

Predicted Effect

probably benign
Transcript: ENSMUST00000106188

SMART Domains

Protein: ENSMUSP00000101794
Gene: ENSMUSG00000025137

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_2	26	152	9.8e-25	PFAM
Pfam:CTP_transf_2	217	332	2e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106194
AA Change: C99S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101800
Gene: ENSMUSG00000044034
AA Change: C99S

Domain	Start	End	E-Value	Type
Pfam:NPBW	2	115	5.2e-38	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106195
AA Change: C103S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101801
Gene: ENSMUSG00000044034
AA Change: C103S

Domain	Start	End	E-Value	Type
Pfam:NPBW	5	118	6.9e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129263

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134671

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124468

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neuropeptide B/W family of proteins and preproprotein that is proteolytically processed to generate multiple protein products. The encoded products include neuropeptide B-23 and a C-terminally extended form, neuropeptide B-29, which are characterized by an N-terminal brominated tryptophan amino acid. Both of the encoded peptides bind with higher affinity to neuropeptide B/W (NPB/W) receptor 1 compared to the related NPB/W receptor 2. These peptides may regulate feeding, pain perception, and stress in rodents. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous and heterozygous null mice display hyperalgesia in response to inflammatory pain and mild adult-onset obesity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	G	15: 64,655,833 (GRCm39)	I549L	possibly damaging	Het
Arhgef17	A	T	7: 100,578,103 (GRCm39)	H948Q	probably damaging	Het
Auh	A	G	13: 53,073,035 (GRCm39)		probably null	Het
Btf3	A	G	13: 98,446,714 (GRCm39)		probably benign	Het
Capg	A	G	6: 72,532,594 (GRCm39)	N53S	probably damaging	Het
Cfap70	T	C	14: 20,459,132 (GRCm39)		probably null	Het
Chrna5	A	T	9: 54,913,705 (GRCm39)	E417V	probably damaging	Het
Coch	A	G	12: 51,642,132 (GRCm39)	T35A	possibly damaging	Het
Dock4	T	A	12: 40,860,465 (GRCm39)	L1284M	probably damaging	Het
Etv3	A	G	3: 87,443,702 (GRCm39)	T429A	possibly damaging	Het
Fmnl2	T	C	2: 52,963,747 (GRCm39)		probably null	Het
Glb1	A	G	9: 114,293,130 (GRCm39)	T502A	possibly damaging	Het
Greb1	C	A	12: 16,789,889 (GRCm39)		probably null	Het
Hspg2	A	G	4: 137,271,731 (GRCm39)	Y2499C	probably damaging	Het
Kcnq1	A	T	7: 142,979,863 (GRCm39)		probably benign	Het
Lrriq1	A	G	10: 102,980,409 (GRCm39)	S1497P	probably damaging	Het
Magel2	G	A	7: 62,029,946 (GRCm39)	R950H	unknown	Het
Mcc	A	G	18: 44,563,021 (GRCm39)	L982P	probably damaging	Het
Naif1	T	A	2: 32,345,172 (GRCm39)	M292K	possibly damaging	Het
Obscn	G	T	11: 58,892,958 (GRCm39)	R6763S	probably benign	Het
Or13a21	A	G	7: 139,999,383 (GRCm39)	V101A	probably benign	Het
Or5p56	C	T	7: 107,590,381 (GRCm39)	Q270*	probably null	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Pitpnm3	A	T	11: 71,948,898 (GRCm39)	S736T	probably damaging	Het
Polr1a	A	T	6: 71,944,304 (GRCm39)	E1257V	probably damaging	Het
Sec63	G	A	10: 42,677,703 (GRCm39)	D270N	probably damaging	Het
Snrnp200	C	T	2: 127,060,346 (GRCm39)	T530I	probably damaging	Het
Sorbs1	A	T	19: 40,315,991 (GRCm39)	N383K	probably damaging	Het
Syk	G	A	13: 52,797,076 (GRCm39)	G546R	probably damaging	Het
Tfap2d	T	A	1: 19,189,415 (GRCm39)	L265Q	probably damaging	Het
Trav12-1	C	T	14: 53,775,742 (GRCm39)	S9L	possibly damaging	Het
Trerf1	T	C	17: 47,659,766 (GRCm39)		noncoding transcript	Het
Ttn	T	A	2: 76,558,704 (GRCm39)	I29726L	possibly damaging	Het
Usp18	A	G	6: 121,238,049 (GRCm39)	T143A	probably benign	Het
Usp32	A	T	11: 84,930,896 (GRCm39)	N511K	probably damaging	Het
Wdr64	C	T	1: 175,594,613 (GRCm39)	Q4*	probably null	Het
Zfp277	A	G	12: 40,379,514 (GRCm39)	F340S	probably damaging	Het

Other mutations in Npb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3125:Npb	UTSW	11	120,499,728 (GRCm39)	missense	possibly damaging	0.83
R4998:Npb	UTSW	11	120,499,401 (GRCm39)	missense	probably damaging	1.00
R6950:Npb	UTSW	11	120,499,473 (GRCm39)	missense	probably benign	0.04
R9497:Npb	UTSW	11	120,499,473 (GRCm39)	missense	probably benign	0.04
R9625:Npb	UTSW	11	120,499,375 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16