Mutagenetix > Incidental Mutation

Incidental Mutation 'R0057:Npsr1'

16923

Institutional Source

Beutler Lab

Gene Symbol

Npsr1

Ensembl Gene

ENSMUSG00000043659

Gene Name

neuropeptide S receptor 1

Synonyms

Gpr154, 9330128H10Rik, VRR1, PGR14

MMRRC Submission

038351-MU

Accession Numbers

Essential gene?

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

Stock #

R0057 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

24009292-24227694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24211723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 84 (I84F)

Ref Sequence

ENSEMBL: ENSMUSP00000115126 (fasta)

Gene Model

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

AlphaFold

Q8BZP8

Predicted Effect

probably damaging
Transcript: ENSMUST00000059650
AA Change: I237F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056432
Gene: ENSMUSG00000043659
AA Change: I237F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154337

Predicted Effect

probably damaging
Transcript: ENSMUST00000154644
AA Change: I84F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115126
Gene: ENSMUSG00000043659
AA Change: I84F

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

Meta Mutation Damage Score

0.6416

Coding Region Coverage

1x: 90.1%
3x: 87.8%
10x: 82.7%
20x: 75.7%

Validation Efficiency

89% (65/73)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,832,385 (GRCm39)	F1309L	possibly damaging	Het
Abcc6	C	T	7: 45,669,567 (GRCm39)	A163T	probably benign	Het
Adam23	T	A	1: 63,610,078 (GRCm39)	H693Q	probably damaging	Het
Afg3l2	A	G	18: 67,556,156 (GRCm39)	F392L	probably damaging	Het
Ak9	A	T	10: 41,268,724 (GRCm39)	T1055S	probably benign	Het
Ap5z1	T	C	5: 142,456,144 (GRCm39)		probably benign	Het
Arhgef10l	A	G	4: 140,338,529 (GRCm39)		probably benign	Het
Bloc1s6	T	A	2: 122,586,141 (GRCm39)		probably benign	Het
Caskin1	A	G	17: 24,723,870 (GRCm39)	N886S	probably damaging	Het
Celsr1	A	C	15: 85,914,963 (GRCm39)	S1003R	probably benign	Het
Ctse	G	T	1: 131,591,109 (GRCm39)	D97Y	probably damaging	Het
Cux1	T	A	5: 136,285,136 (GRCm39)	I505F	probably damaging	Het
Dcaf11	T	C	14: 55,806,767 (GRCm39)	V490A	probably benign	Het
Dscam	A	C	16: 96,474,936 (GRCm39)	W1209G	probably damaging	Het
Emc8	A	G	8: 121,385,822 (GRCm39)		probably benign	Het
Entpd6	A	G	2: 150,600,748 (GRCm39)	K152R	probably null	Het
Eps8l2	C	T	7: 140,922,884 (GRCm39)	T49I	probably benign	Het
Fcsk	C	T	8: 111,620,400 (GRCm39)		probably benign	Het
Gm12251	C	A	11: 58,283,867 (GRCm39)		probably benign	Het
Gna11	A	G	10: 81,366,774 (GRCm39)	M312T	probably benign	Het
Hacd2	T	A	16: 34,895,997 (GRCm39)	V105D	probably damaging	Het
Il17a	T	A	1: 20,803,881 (GRCm39)	I92N	probably damaging	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Irak4	A	C	15: 94,451,753 (GRCm39)	R115S	probably benign	Het
Jarid2	C	T	13: 45,038,332 (GRCm39)	H77Y	probably damaging	Het
Kcnk6	A	T	7: 28,925,088 (GRCm39)	L176Q	probably damaging	Het
Kmt2b	A	T	7: 30,276,217 (GRCm39)		probably benign	Het
Kremen2	A	C	17: 23,962,202 (GRCm39)	I210S	possibly damaging	Het
Ldah	T	C	12: 8,288,432 (GRCm39)		probably benign	Het
Lgals9	A	T	11: 78,862,262 (GRCm39)		probably benign	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mfsd4b4	T	A	10: 39,891,097 (GRCm38)		probably benign	Het
Msh4	C	T	3: 153,575,318 (GRCm39)	A686T	probably benign	Het
Mycbp2	T	C	14: 103,389,578 (GRCm39)	N3411D	probably damaging	Het
Myt1l	A	G	12: 29,892,611 (GRCm39)		probably null	Het
Nmbr	A	G	10: 14,636,268 (GRCm39)	N79S	probably damaging	Het
Or52h1	G	T	7: 103,829,536 (GRCm39)	H26Q	probably benign	Het
Or5m10b	C	A	2: 85,699,597 (GRCm39)	Y220*	probably null	Het
Or6z5	T	C	7: 6,477,679 (GRCm39)	L190P	probably damaging	Het
Prlr	A	G	15: 10,328,509 (GRCm39)	Y328C	probably damaging	Het
Rasal3	A	G	17: 32,610,357 (GRCm39)	S977P	probably benign	Het
Ros1	C	T	10: 52,056,287 (GRCm39)	V68I	probably benign	Het
Shmt2	G	A	10: 127,356,917 (GRCm39)	T31M	possibly damaging	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Snrnp200	C	G	2: 127,079,827 (GRCm39)	L1899V	probably damaging	Het
Snrnp48	T	A	13: 38,400,356 (GRCm39)	C154*	probably null	Het
Tdrd6	G	A	17: 43,928,052 (GRCm39)		probably benign	Het
Tmem175	C	T	5: 108,787,428 (GRCm39)	H92Y	probably damaging	Het
Tom1l1	G	A	11: 90,575,975 (GRCm39)		probably benign	Het
Top3a	C	T	11: 60,631,510 (GRCm39)	A951T	probably benign	Het
Tram2	C	T	1: 21,076,378 (GRCm39)	R184Q	probably damaging	Het
Trpc4ap	T	C	2: 155,482,406 (GRCm39)	E528G	possibly damaging	Het
Vwa7	G	A	17: 35,243,523 (GRCm39)	S710N	possibly damaging	Het
Zfa-ps	A	T	10: 52,421,202 (GRCm39)		noncoding transcript	Het
Zfp770	T	A	2: 114,027,713 (GRCm39)	R119*	probably null	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
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
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

Posted On

2013-01-20