Mutagenetix > Incidental Mutation

Incidental Mutation 'R9277:Npsr1'

703379

Institutional Source

Beutler Lab

Gene Symbol

Npsr1

Ensembl Gene

ENSMUSG00000043659

Gene Name

neuropeptide S receptor 1

Synonyms

Gpr154, 9330128H10Rik, VRR1, PGR14

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R9277 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24009292-24227694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24224493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 290 (Y290C)

Ref Sequence

ENSEMBL: ENSMUSP00000056432 (fasta)

Gene Model

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

AlphaFold

Q8BZP8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059650
AA Change: Y290C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000056432
Gene: ENSMUSG00000043659
AA Change: Y290C

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154644
AA Change: Y137C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115126
Gene: ENSMUSG00000043659
AA Change: Y137C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,867,347 (GRCm39)	Y237C	probably damaging	Het
Adam12	T	C	7: 133,521,561 (GRCm39)	S566G	probably benign	Het
Afdn	T	A	17: 14,024,270 (GRCm39)	C59S	probably damaging	Het
Apob	A	T	12: 8,061,183 (GRCm39)	I3222F	probably benign	Het
Cdyl	A	G	13: 36,042,222 (GRCm39)	D420G	probably benign	Het
Cela1	C	A	15: 100,580,894 (GRCm39)	A121S	possibly damaging	Het
Clip2	A	G	5: 134,528,963 (GRCm39)	M822T	probably benign	Het
Coq8a	G	A	1: 180,006,776 (GRCm39)	T84I	probably benign	Het
Dars2	G	A	1: 160,877,527 (GRCm39)	A390V	probably benign	Het
Dhx40	C	T	11: 86,661,056 (GRCm39)	M744I	probably benign	Het
Dnajc14	A	G	10: 128,642,689 (GRCm39)	I204V	probably benign	Het
Eftud2	A	C	11: 102,750,855 (GRCm39)	F322V	probably damaging	Het
Eif4g2	G	A	7: 110,674,066 (GRCm39)	A646V	probably damaging	Het
Faim2	T	C	15: 99,419,097 (GRCm39)	T91A	probably benign	Het
Fancl	A	T	11: 26,418,847 (GRCm39)	I290F	possibly damaging	Het
Fermt3	A	T	19: 6,991,245 (GRCm39)	Y253N	possibly damaging	Het
Fhip1a	C	A	3: 85,579,565 (GRCm39)	R880L	probably benign	Het
Frem3	T	A	8: 81,417,402 (GRCm39)	S2036T	probably damaging	Het
Gm10330	A	T	12: 23,829,911 (GRCm39)	V90E	probably damaging	Het
Golga1	T	C	2: 38,914,255 (GRCm39)	E488G	probably benign	Het
Gpatch11	T	A	17: 79,148,446 (GRCm39)	L128Q	possibly damaging	Het
Hoxd9	A	G	2: 74,529,539 (GRCm39)	N265S	possibly damaging	Het
Igfn1	C	T	1: 135,887,520 (GRCm39)	V2515M	probably damaging	Het
Itga2b	A	G	11: 102,351,982 (GRCm39)	L505P	probably damaging	Het
Klrg2	A	G	6: 38,613,491 (GRCm39)	S171P	probably benign	Het
Lamtor5	A	G	3: 107,186,404 (GRCm39)	T58A	probably benign	Het
Lgr6	G	T	1: 134,915,217 (GRCm39)	C787*	probably null	Het
Madd	A	G	2: 91,006,055 (GRCm39)	F380S	probably damaging	Het
Magi1	A	T	6: 93,920,234 (GRCm39)	H127Q	possibly damaging	Het
Maml2	A	G	9: 13,531,872 (GRCm39)	E362G		Het
Morc2b	C	T	17: 33,354,997 (GRCm39)	G925D	probably benign	Het
Nalcn	C	T	14: 123,518,523 (GRCm39)	R1672H	probably damaging	Het
Obox5	A	T	7: 15,491,877 (GRCm39)	E97D	probably damaging	Het
Parn	C	T	16: 13,482,519 (GRCm39)		probably null	Het
Pip4k2b	A	T	11: 97,613,272 (GRCm39)	N241K	probably damaging	Het
Pkn2	A	G	3: 142,516,509 (GRCm39)	V539A	probably benign	Het
Plpp7	A	T	2: 31,985,824 (GRCm39)	M1L	probably damaging	Het
Pramel43	T	C	5: 94,762,843 (GRCm39)	T60A	probably benign	Het
Pramel44	A	G	5: 94,771,917 (GRCm39)	T16A	probably benign	Het
Prtg	G	A	9: 72,716,929 (GRCm39)	S90N	probably benign	Het
Rgs7bp	G	A	13: 105,100,618 (GRCm39)	T219M	probably damaging	Het
Scgb1b20	G	A	7: 33,072,998 (GRCm39)	D69N	probably benign	Het
Setd2	A	G	9: 110,379,619 (GRCm39)	T1145A	probably damaging	Het
Slc49a3	G	T	5: 108,589,864 (GRCm39)	P513T	probably benign	Het
Tmem145	A	G	7: 25,009,165 (GRCm39)	Q359R	probably benign	Het
Trmt5	C	A	12: 73,329,448 (GRCm39)	D237Y	probably damaging	Het
Vmn1r169	A	T	7: 23,277,390 (GRCm39)	I261F	probably benign	Het
Vmn1r19	A	T	6: 57,382,322 (GRCm39)	I292F	unknown	Het
Vmn2r66	T	C	7: 84,661,164 (GRCm39)	D22G	probably benign	Het
Vwa3b	T	A	1: 37,196,534 (GRCm39)		probably null	Het
Wbp4	T	A	14: 79,714,353 (GRCm39)	D53V	probably benign	Het
Xpo1	A	G	11: 23,241,550 (GRCm39)	I866V	probably benign	Het
Zan	G	A	5: 137,462,254 (GRCm39)	P975L	unknown	Het
Zdhhc19	G	A	16: 32,316,512 (GRCm39)	R89Q	probably benign	Het
Zer1	G	A	2: 30,001,297 (GRCm39)	T69I	probably benign	Het
Zfp827	C	T	8: 79,787,029 (GRCm39)	T65I	probably damaging	Het
Zswim9	A	G	7: 12,994,983 (GRCm39)	F391S	probably 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
R2851:Npsr1	UTSW	9	24,221,301 (GRCm39)	splice site	probably benign
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
R9744:Npsr1	UTSW	9	24,201,182 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATATGTCAGTCATGTTAGCACACC -3'
(R):5'- TCAGCCACTGCCATTAAGC -3'

Sequencing Primer
(F):5'- GTCATGTTAGCACACCCAAGG -3'
(R):5'- GCAAAGCCTTAAACCATCTTATTAC -3'

Posted On

2022-03-25