Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03350:Npsr1'

419676

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Npsr1

Ensembl Gene

ENSMUSG00000043659

Gene Name

neuropeptide S receptor 1

Synonyms

VRR1, PGR14, 9330128H10Rik, Gpr154

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL03350

Quality Score

Status

Chromosome

Chromosomal Location

24097996-24316398 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24098309 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 37 (V37A)

Ref Sequence

ENSEMBL: ENSMUSP00000117786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059650] [ENSMUST00000133787]

Predicted Effect

probably benign
Transcript: ENSMUST00000059650
AA Change: V37A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056432
Gene: ENSMUSG00000043659
AA Change: V37A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000133787
AA Change: V37A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117786
Gene: ENSMUSG00000043659
AA Change: V37A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srbc	18	187	1.3e-7	PFAM
Pfam:7tm_1	66	190	1.8e-25	PFAM

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 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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	C	A	6: 129,331,023	V28L	probably benign	Het
Adam26a	A	T	8: 43,569,552	Y300*	probably null	Het
Adgre1	T	A	17: 57,401,908	V33E	probably benign	Het
AI987944	A	G	7: 41,393,237		probably benign	Het
Atp4a	T	C	7: 30,720,867	L813P	probably damaging	Het
Blmh	A	G	11: 76,971,948	N396D	probably damaging	Het
Brat1	T	C	5: 140,705,995	L9P	probably damaging	Het
Ccdc171	T	C	4: 83,681,378	I810T	possibly damaging	Het
Cyp2a22	T	C	7: 26,934,854	T292A	possibly damaging	Het
Ecm2	C	T	13: 49,520,944	T280I	probably benign	Het
Fa2h	C	T	8: 111,349,296	V232I	probably benign	Het
Fbxw24	T	C	9: 109,607,013	D317G	probably damaging	Het
Flt4	C	A	11: 49,634,793	S722*	probably null	Het
Fryl	T	C	5: 73,133,306	Q85R	probably damaging	Het
Gm3239	A	G	14: 4,667,115	R188G	possibly damaging	Het
Hspa13	A	T	16: 75,757,829	S456R	probably damaging	Het
Htr1b	T	C	9: 81,632,122	Y144C	probably damaging	Het
Hydin	A	G	8: 110,312,224	H198R	possibly damaging	Het
Krt78	A	T	15: 101,946,517	M953K	probably benign	Het
Lgr5	G	T	10: 115,471,988	T255K	probably damaging	Het
Lrp2	T	A	2: 69,438,453	D4162V	probably damaging	Het
Map3k2	A	G	18: 32,212,148	D342G	probably damaging	Het
Miip	A	G	4: 147,862,522	V258A	probably benign	Het
Muc6	T	C	7: 141,652,059	H52R	probably damaging	Het
Nfs1	T	C	2: 156,127,740	E329G	probably benign	Het
Olfr1107	A	C	2: 87,071,560	D191E	probably damaging	Het
Olfr23	A	T	11: 73,940,838	L197F	probably damaging	Het
Olfr356	T	C	2: 36,937,583	Y155H	probably damaging	Het
Pex16	T	A	2: 92,377,497	M98K	probably damaging	Het
Pla2r1	C	T	2: 60,455,173	C699Y	probably damaging	Het
Plcd4	A	T	1: 74,549,301	D103V	probably damaging	Het
Pnpla1	A	G	17: 28,876,992	D129G	probably damaging	Het
Rad23a	T	C	8: 84,837,479	E265G	possibly damaging	Het
Rbm11	C	T	16: 75,600,808	P209S	probably benign	Het
Ribc2	T	A	15: 85,135,502	W162R	probably damaging	Het
Rnf4	A	G	5: 34,346,860	E32G	possibly damaging	Het
Rpe65	A	T	3: 159,614,517	S269C	possibly damaging	Het
Slc7a14	T	A	3: 31,237,409	Y240F	probably benign	Het
Sorbs2	C	T	8: 45,805,807	P1047L	probably damaging	Het
Ttn	T	C	2: 76,749,822	I23576V	probably damaging	Het
Usp24	T	G	4: 106,371,079	Y780*	probably null	Het
Wee2	T	C	6: 40,449,731	S145P	probably damaging	Het
Zcchc7	A	G	4: 44,931,188	T126A	probably benign	Het
Zpld1	A	G	16: 55,241,329		probably benign	Het
Zufsp	G	A	10: 33,928,111	R456C	probably benign	Het

Other mutations in Npsr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Npsr1	APN	9	24254693	missense	probably damaging	1.00
IGL02505:Npsr1	APN	9	24098282	missense	probably benign
IGL03306:Npsr1	APN	9	24313239	missense	probably benign	0.41
R0057:Npsr1	UTSW	9	24300427	missense	probably damaging	1.00
R0385:Npsr1	UTSW	9	24313277	missense	probably damaging	0.99
R1432:Npsr1	UTSW	9	24310075	missense	probably damaging	1.00
R2033:Npsr1	UTSW	9	24313352	missense	probably benign
R2323:Npsr1	UTSW	9	24300436	missense	probably damaging	1.00
R2851:Npsr1	UTSW	9	24310005	splice site	probably benign
R2852:Npsr1	UTSW	9	24310005	splice site	probably benign
R4088:Npsr1	UTSW	9	24313769	missense	possibly damaging	0.56
R4757:Npsr1	UTSW	9	24134768	missense	probably benign	0.00
R4812:Npsr1	UTSW	9	24289956	missense	probably damaging	0.98
R5175:Npsr1	UTSW	9	24134815	missense	probably benign	0.11
R5475:Npsr1	UTSW	9	24300419	missense	probably damaging	1.00
R5568:Npsr1	UTSW	9	24313214	missense	probably damaging	1.00
R5722:Npsr1	UTSW	9	24313800	missense	probably damaging	1.00
R6778:Npsr1	UTSW	9	24254618	missense	possibly damaging	0.96
R6811:Npsr1	UTSW	9	24134809	missense	probably benign	0.03
R6931:Npsr1	UTSW	9	24289997	missense	probably benign	0.27
R7356:Npsr1	UTSW	9	24098261	missense	probably benign	0.29
R7569:Npsr1	UTSW	9	24313730	missense	probably benign	0.00
R7908:Npsr1	UTSW	9	24289800	missense	probably damaging	1.00
R8287:Npsr1	UTSW	9	24289962	missense	probably damaging	1.00
R8325:Npsr1	UTSW	9	24286822	start gained	probably benign
R8392:Npsr1	UTSW	9	24310081	missense	possibly damaging	0.91
R8396:Npsr1	UTSW	9	24310081	missense	possibly damaging	0.91
R8946:Npsr1	UTSW	9	24313229	missense	probably benign

Posted On

2016-08-02