Mutagenetix > Incidental Mutation

Incidental Mutation 'R2851:Npsr1'

252219

Institutional Source

Beutler Lab

Gene Symbol

Npsr1

Ensembl Gene

ENSMUSG00000043659

Gene Name

neuropeptide S receptor 1

Synonyms

Gpr154, 9330128H10Rik, VRR1, PGR14

MMRRC Submission

040444-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R2851 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24009292-24227694 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 24221301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059650] [ENSMUST00000154644]

AlphaFold

Q8BZP8

Predicted Effect

probably benign
Transcript: ENSMUST00000059650

SMART Domains

Protein: ENSMUSP00000056432
Gene: ENSMUSG00000043659

Domain	Start	End	E-Value	Type
Pfam:7tm_1	66	330	1.4e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154337

Predicted Effect

probably benign
Transcript: ENSMUST00000154644

SMART Domains

Protein: ENSMUSP00000115126
Gene: ENSMUSG00000043659

Domain	Start	End	E-Value	Type
Pfam:7tm_1	2	177	2.7e-27	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (61/62)

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 vasopressin/oxytocin subfamily of G protein-coupled receptors. The encoded membrane protein acts as a receptor for neuropeptide S and affects a variety of cellular processes through its signaling. Increased expression of this gene in ciliated cells of the respiratory epithelium and in bronchial smooth muscle cells is associated with asthma. Polymorphisms in this gene have also been associated with asthma susceptibility, panic disorders, inflammatory bowel disease, and rheumatoid arthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased airway resistance when treated with high concentrations of U-46619. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2cl	T	C	9: 110,723,203 (GRCm39)	S636P	probably damaging	Het
Arhgef4	A	C	1: 34,763,129 (GRCm39)	D795A	unknown	Het
Bank1	A	T	3: 135,948,701 (GRCm39)	S159T	possibly damaging	Het
Catsperd	A	G	17: 56,967,169 (GRCm39)		probably null	Het
Ccdc85a	A	G	11: 28,342,942 (GRCm39)		probably benign	Het
Ceacam11	T	C	7: 17,712,451 (GRCm39)	I300T	probably benign	Het
Cmtm5	A	G	14: 55,175,512 (GRCm39)		probably benign	Het
Cnn3	C	T	3: 121,243,702 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,585,614 (GRCm39)	N1254K	probably damaging	Het
Crispld2	T	A	8: 120,740,828 (GRCm39)	L107Q	probably damaging	Het
Ctr9	C	T	7: 110,652,653 (GRCm39)	R984C	unknown	Het
Cyp1b1	T	C	17: 80,017,649 (GRCm39)	N502S	probably benign	Het
Cyp51	A	T	5: 4,149,183 (GRCm39)	D231E	probably damaging	Het
Depdc5	A	G	5: 33,081,515 (GRCm39)	E559G	probably damaging	Het
Dnai4	A	G	4: 102,953,858 (GRCm39)	S114P	probably benign	Het
Dscam	T	C	16: 96,423,915 (GRCm39)	T1677A	possibly damaging	Het
Dzip1	A	C	14: 119,159,857 (GRCm39)	M117R	possibly damaging	Het
Ednrb	G	T	14: 104,059,110 (GRCm39)	S305R	probably benign	Het
Emilin1	A	G	5: 31,074,509 (GRCm39)	D250G	probably benign	Het
Frrs1	A	G	3: 116,678,778 (GRCm39)	N200S	probably benign	Het
Fstl5	T	A	3: 76,337,045 (GRCm39)		probably benign	Het
Gmcl1	A	C	6: 86,703,159 (GRCm39)	S92A	probably damaging	Het
Gpr62	T	C	9: 106,341,911 (GRCm39)	E339G	probably benign	Het
Hspd1	A	T	1: 55,120,256 (GRCm39)	D315E	probably damaging	Het
Il19	A	G	1: 130,863,694 (GRCm39)	V99A	possibly damaging	Het
Itga9	G	A	9: 118,465,604 (GRCm39)	E153K	probably damaging	Het
Itgad	T	A	7: 127,803,732 (GRCm39)	V42E	probably benign	Het
Krt82	T	C	15: 101,456,870 (GRCm39)	Y170C	probably damaging	Het
Map4k4	T	A	1: 40,039,915 (GRCm39)		probably benign	Het
Mdc1	T	A	17: 36,159,902 (GRCm39)	V670D	probably benign	Het
Mfsd4b2	T	A	10: 39,798,119 (GRCm39)	S79C	probably benign	Het
Mre11a	A	G	9: 14,737,843 (GRCm39)	E599G	probably benign	Het
Mthfsd	G	A	8: 121,832,512 (GRCm39)	T60I	probably benign	Het
Mycbp2	A	T	14: 103,381,769 (GRCm39)	F3724I	probably damaging	Het
Nceh1	A	G	3: 27,295,504 (GRCm39)	Y255C	probably damaging	Het
Ncoa2	C	T	1: 13,257,113 (GRCm39)	V129I	probably damaging	Het
Ndufb5	T	C	3: 32,800,600 (GRCm39)	F58L	probably damaging	Het
Obscn	C	A	11: 58,920,844 (GRCm39)		probably null	Het
Pdzd7	C	G	19: 45,016,113 (GRCm39)	V1003L	probably benign	Het
Pias3	A	G	3: 96,610,853 (GRCm39)	E377G	possibly damaging	Het
Pilra	T	A	5: 137,834,342 (GRCm39)	M14L	probably benign	Het
Pkhd1	T	C	1: 20,128,526 (GRCm39)	Q4059R	probably benign	Het
Ppa2	A	T	3: 133,026,764 (GRCm39)		probably null	Het
Proser1	G	A	3: 53,387,966 (GRCm39)	A885T	probably benign	Het
Robo2	A	G	16: 73,758,776 (GRCm39)	I665T	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Secisbp2	G	A	13: 51,808,671 (GRCm39)		probably null	Het
Setbp1	T	A	18: 78,967,211 (GRCm39)	Q171L	probably benign	Het
Spata1	A	G	3: 146,193,295 (GRCm39)	L96P	possibly damaging	Het
Srprb	G	A	9: 103,076,038 (GRCm39)	Q800*	probably null	Het
Stk11ip	A	G	1: 75,505,911 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,921,557 (GRCm39)	T445A	probably damaging	Het
Tdrd12	G	A	7: 35,184,798 (GRCm39)	T705M	probably damaging	Het
Tek	A	G	4: 94,708,461 (GRCm39)	T340A	probably benign	Het
Timm22	G	A	11: 76,304,925 (GRCm39)	A188T	probably damaging	Het
Tmeff1	T	A	4: 48,604,692 (GRCm39)		probably null	Het
Tmprss12	C	A	15: 100,180,296 (GRCm39)	T112K	possibly damaging	Het
U2surp	A	G	9: 95,382,735 (GRCm39)		probably null	Het
Vmn2r84	T	A	10: 130,230,036 (GRCm39)	E25D	probably benign	Het
Wdr62	A	T	7: 29,960,862 (GRCm39)	N22K	possibly damaging	Het
Zfp653	A	T	9: 21,968,862 (GRCm39)	D426E	probably benign	Het
Zfyve28	G	A	5: 34,354,006 (GRCm39)	P834L	probably damaging	Het
Zkscan16	A	G	4: 58,957,364 (GRCm39)	T549A	possibly damaging	Het

Other mutations in Npsr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Npsr1	APN	9	24,165,989 (GRCm39)	missense	probably damaging	1.00
IGL02505:Npsr1	APN	9	24,009,578 (GRCm39)	missense	probably benign
IGL03306:Npsr1	APN	9	24,224,535 (GRCm39)	missense	probably benign	0.41
IGL03350:Npsr1	APN	9	24,009,605 (GRCm39)	missense	probably benign
R0057:Npsr1	UTSW	9	24,211,723 (GRCm39)	missense	probably damaging	1.00
R0385:Npsr1	UTSW	9	24,224,573 (GRCm39)	missense	probably damaging	0.99
R1432:Npsr1	UTSW	9	24,221,371 (GRCm39)	missense	probably damaging	1.00
R2033:Npsr1	UTSW	9	24,224,648 (GRCm39)	missense	probably benign
R2323:Npsr1	UTSW	9	24,211,732 (GRCm39)	missense	probably damaging	1.00
R2852:Npsr1	UTSW	9	24,221,301 (GRCm39)	splice site	probably benign
R4088:Npsr1	UTSW	9	24,225,065 (GRCm39)	missense	possibly damaging	0.56
R4757:Npsr1	UTSW	9	24,046,064 (GRCm39)	missense	probably benign	0.00
R4812:Npsr1	UTSW	9	24,201,252 (GRCm39)	missense	probably damaging	0.98
R5175:Npsr1	UTSW	9	24,046,111 (GRCm39)	missense	probably benign	0.11
R5475:Npsr1	UTSW	9	24,211,715 (GRCm39)	missense	probably damaging	1.00
R5568:Npsr1	UTSW	9	24,224,510 (GRCm39)	missense	probably damaging	1.00
R5722:Npsr1	UTSW	9	24,225,096 (GRCm39)	missense	probably damaging	1.00
R6778:Npsr1	UTSW	9	24,165,914 (GRCm39)	missense	possibly damaging	0.96
R6811:Npsr1	UTSW	9	24,046,105 (GRCm39)	missense	probably benign	0.03
R6931:Npsr1	UTSW	9	24,201,293 (GRCm39)	missense	probably benign	0.27
R7356:Npsr1	UTSW	9	24,009,557 (GRCm39)	missense	probably benign	0.29
R7569:Npsr1	UTSW	9	24,225,026 (GRCm39)	missense	probably benign	0.00
R7908:Npsr1	UTSW	9	24,201,096 (GRCm39)	missense	probably damaging	1.00
R8287:Npsr1	UTSW	9	24,201,258 (GRCm39)	missense	probably damaging	1.00
R8325:Npsr1	UTSW	9	24,198,118 (GRCm39)	start gained	probably benign
R8392:Npsr1	UTSW	9	24,221,377 (GRCm39)	missense	possibly damaging	0.91
R8396:Npsr1	UTSW	9	24,221,377 (GRCm39)	missense	possibly damaging	0.91
R8946:Npsr1	UTSW	9	24,224,525 (GRCm39)	missense	probably benign
R9277:Npsr1	UTSW	9	24,224,493 (GRCm39)	missense	possibly damaging	0.95
R9744:Npsr1	UTSW	9	24,201,182 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGAATCTGGGCATTTGCATTG -3'
(R):5'- TGCAGCAGTCAAACACACTG -3'

Sequencing Primer
(F):5'- CATTGGGTTGCAAATTGAGCAGC -3'
(R):5'- CTGGTGAATCCAATACCATTCTTTG -3'

Posted On

2014-12-04