Incidental Mutation 'R2852:Npsr1'
ID 252320
Institutional Source Beutler Lab
Gene Symbol Npsr1
Ensembl Gene ENSMUSG00000043659
Gene Name neuropeptide S receptor 1
Synonyms Gpr154, 9330128H10Rik, VRR1, PGR14
MMRRC Submission 040445-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R2852 (G1)
Quality Score 225
Status Validated
Chromosome 9
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:7tm_1 2 177 2.7e-27 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (46/46)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
Cblc A G 7: 19,514,889 (GRCm39) probably null Het
Cfap54 T C 10: 92,776,017 (GRCm39) Y48C probably damaging Het
Chrng A G 1: 87,134,428 (GRCm39) I156M probably benign Het
Dennd5a A T 7: 109,532,878 (GRCm39) N297K 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
Dzip1 A C 14: 119,159,857 (GRCm39) M117R possibly damaging Het
Ednrb G T 14: 104,059,110 (GRCm39) S305R probably benign Het
Egflam A T 15: 7,249,182 (GRCm39) W879R probably damaging Het
Ehbp1l1 T A 19: 5,766,515 (GRCm39) D332V probably damaging Het
Far1 T C 7: 113,152,944 (GRCm39) Y351H possibly damaging Het
Glrp1 GTGCTGCTGCTGCTGCTGCTGCTGCTG GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 1: 88,430,997 (GRCm39) probably benign Het
Hspd1 A T 1: 55,120,256 (GRCm39) D315E probably damaging Het
Kap T C 6: 133,827,057 (GRCm39) K92E probably benign Het
Kcnv2 T C 19: 27,300,496 (GRCm39) Y116H probably benign Het
Krt82 T C 15: 101,456,870 (GRCm39) Y170C probably damaging Het
Krtap13 T C 16: 88,548,524 (GRCm39) probably benign Het
Man2a1 A G 17: 65,020,596 (GRCm39) K791E probably benign Het
Map4k4 T A 1: 40,039,915 (GRCm39) probably benign Het
Mdc1 T A 17: 36,159,902 (GRCm39) V670D probably benign Het
Mre11a A G 9: 14,737,843 (GRCm39) E599G probably benign Het
Mrln T C 10: 70,055,456 (GRCm39) I44T possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mycbp2 A T 14: 103,381,769 (GRCm39) F3724I probably damaging Het
Oosp3 T A 19: 11,676,896 (GRCm39) probably null Het
Pah T A 10: 87,403,327 (GRCm39) L131Q probably damaging Het
Pde6h G A 6: 136,940,206 (GRCm39) C64Y probably damaging Het
Pdzd7 C G 19: 45,016,113 (GRCm39) V1003L probably benign Het
Pilra T A 5: 137,834,342 (GRCm39) M14L probably benign Het
Prkdc T C 16: 15,470,416 (GRCm39) probably null Het
Rnf168 A G 16: 32,101,192 (GRCm39) E124G probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Spata1 A G 3: 146,193,295 (GRCm39) L96P possibly damaging Het
Stk11ip A G 1: 75,505,911 (GRCm39) probably benign Het
Stx5a T C 19: 8,732,476 (GRCm39) probably benign Het
Tek A G 4: 94,708,461 (GRCm39) T340A probably benign Het
Tmeff1 T A 4: 48,604,692 (GRCm39) probably null Het
Vmn2r85 T A 10: 130,255,035 (GRCm39) M550L probably benign Het
Zfp14 A G 7: 29,738,596 (GRCm39) Y130H probably benign 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
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GAGAATCTGGGCATTTGCATTG -3'
(R):5'- GCAGCAGTCAAACACACTGG -3'

Sequencing Primer
(F):5'- CATTGGGTTGCAAATTGAGCAGC -3'
(R):5'- CTGGTGAATCCAATACCATTCTTTG -3'
Posted On 2014-12-04