Incidental Mutation 'IGL00793:Npsr1'
ID12774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npsr1
Ensembl Gene ENSMUSG00000043659
Gene Nameneuropeptide S receptor 1
SynonymsVRR1, PGR14, 9330128H10Rik, Gpr154
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL00793
Quality Score
Status
Chromosome9
Chromosomal Location24097996-24316398 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 24254693 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 125 (R125L)
Ref Sequence ENSEMBL: ENSMUSP00000117786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059650] [ENSMUST00000133787]
Predicted Effect probably damaging
Transcript: ENSMUST00000059650
AA Change: R125L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056432
Gene: ENSMUSG00000043659
AA Change: R125L

DomainStartEndE-ValueType
Pfam:7tm_1 66 330 1.4e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000133787
AA Change: R125L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117786
Gene: ENSMUSG00000043659
AA Change: R125L

DomainStartEndE-ValueType
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A G 9: 108,397,406 D236G probably damaging Het
5031410I06Rik T C 5: 26,104,155 R50G probably damaging Het
Adam32 A T 8: 24,837,830 probably benign Het
Adm A G 7: 110,628,581 Y52C probably damaging Het
Aff4 A G 11: 53,411,990 T1097A probably damaging Het
Ccne1 A C 7: 38,106,301 V50G probably benign Het
Copb2 A G 9: 98,585,004 T636A probably benign Het
Cxadr C A 16: 78,334,227 Y210* probably null Het
Dnajc17 T C 2: 119,180,960 E163G probably benign Het
Dnmt3b T A 2: 153,672,502 M405K possibly damaging Het
Enpp7 A T 11: 118,990,545 N172I probably damaging Het
G2e3 T A 12: 51,367,762 S340T probably benign Het
Kat2b A G 17: 53,665,824 N722S probably benign Het
Kcnh5 C A 12: 75,114,346 V263F probably damaging Het
Ldlrad1 A G 4: 107,217,889 D211G probably damaging Het
Lrp1 A G 10: 127,542,205 V4082A possibly damaging Het
Mycbp2 A T 14: 103,126,753 V4370D possibly damaging Het
Osbpl9 T C 4: 109,087,431 I116V probably damaging Het
Parp4 G T 14: 56,602,877 A580S possibly damaging Het
Pfkm T C 15: 98,125,594 V391A probably benign Het
Psen1 T A 12: 83,723,018 S170T probably damaging Het
Rsbn1l C T 5: 20,896,155 V796I probably benign Het
Slc39a8 A G 3: 135,884,733 I396V probably benign Het
Spag16 T C 1: 70,299,650 C436R probably damaging Het
Stpg1 A G 4: 135,506,407 probably benign Het
Tmem57 A G 4: 134,828,206 S319P probably damaging Het
Tmem86b A G 7: 4,628,757 probably benign Het
Trf A G 9: 103,226,143 probably benign Het
Trim61 A T 8: 65,014,091 Y173N possibly damaging Het
Wrap73 T C 4: 154,152,639 S228P probably damaging Het
Zfc3h1 T C 10: 115,416,874 V1364A probably benign Het
Other mutations in Npsr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02505:Npsr1 APN 9 24098282 missense probably benign
IGL03306:Npsr1 APN 9 24313239 missense probably benign 0.41
IGL03350:Npsr1 APN 9 24098309 missense probably benign
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
Posted On2012-12-06