Incidental Mutation 'IGL02137:Ntsr1'
ID 281386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ntsr1
Ensembl Gene ENSMUSG00000027568
Gene Name neurotensin receptor 1
Synonyms NTR-1, NTR1, Ntsr1, NT-1R
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL02137
Quality Score
Status
Chromosome 2
Chromosomal Location 180141769-180186772 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 180180628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029084] [ENSMUST00000170448]
AlphaFold O88319
Predicted Effect probably null
Transcript: ENSMUST00000029084
SMART Domains Protein: ENSMUSP00000029084
Gene: ENSMUSG00000027568

DomainStartEndE-ValueType
low complexity region 31 49 N/A INTRINSIC
Pfam:7tm_1 80 369 7.5e-55 PFAM
Pfam:7TM_GPCR_Srv 82 386 1e-8 PFAM
low complexity region 392 398 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000170448
SMART Domains Protein: ENSMUSP00000127548
Gene: ENSMUSG00000027568

DomainStartEndE-ValueType
low complexity region 31 49 N/A INTRINSIC
Pfam:7tm_4 70 283 6.7e-9 PFAM
Pfam:7tm_1 80 369 2e-51 PFAM
Pfam:7TM_GPCR_Srv 83 386 1.8e-8 PFAM
low complexity region 392 398 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Neurotensin receptor 1 belongs to the large superfamily of G-protein coupled receptors. NTSR1 mediates the multiple functions of neurotensin, such as hypotension, hyperglycemia, hypothermia, antinociception, and regulation of intestinal motility and secretion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice deficient for this marker have normal baseline prepulse inhibition responses and acoustic startle responses. Mice are heavier, eat more, and have lower body temperatures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik T C X: 80,501,262 (GRCm39) D116G probably benign Het
Acp2 G T 2: 91,034,028 (GRCm39) G66V probably damaging Het
Adam32 C T 8: 25,362,610 (GRCm39) G605D probably damaging Het
Adam4 T C 12: 81,467,877 (GRCm39) D248G possibly damaging Het
Adamts15 C A 9: 30,821,956 (GRCm39) G494W probably damaging Het
Arfgef1 A T 1: 10,283,338 (GRCm39) N190K probably damaging Het
Bach2 C T 4: 32,501,621 (GRCm39) probably benign Het
Bloc1s1 T C 10: 128,758,517 (GRCm39) probably benign Het
Casz1 G T 4: 149,017,925 (GRCm39) A405S possibly damaging Het
Cplx4 T C 18: 66,090,125 (GRCm39) D98G probably benign Het
Dync2h1 T C 9: 7,134,349 (GRCm39) N1553D probably benign Het
Erich5 G A 15: 34,470,900 (GRCm39) C43Y probably damaging Het
Exosc10 A C 4: 148,645,590 (GRCm39) R123S probably damaging Het
Hoatz T C 9: 50,997,408 (GRCm39) probably benign Het
Inpp5f T C 7: 128,296,853 (GRCm39) V377A probably damaging Het
Lrp1b T C 2: 40,620,700 (GRCm39) probably benign Het
Mrps17 G A 5: 129,793,847 (GRCm39) V14M probably benign Het
Mtrr G A 13: 68,716,920 (GRCm39) S431F possibly damaging Het
Myo5a T C 9: 75,068,817 (GRCm39) probably null Het
Nsfl1c T A 2: 151,351,509 (GRCm39) I291N probably damaging Het
Or4n4 T C 14: 50,519,135 (GRCm39) T192A probably benign Het
Park7 T C 4: 150,988,288 (GRCm39) I102M probably benign Het
Pik3c2a T A 7: 115,950,039 (GRCm39) Q1326L probably benign Het
Rapgef3 T C 15: 97,648,025 (GRCm39) D693G probably benign Het
Rep15 G A 6: 146,934,845 (GRCm39) R228H probably benign Het
Slc25a1 A G 16: 17,745,234 (GRCm39) V100A probably benign Het
Slc9a4 T C 1: 40,640,059 (GRCm39) F284L possibly damaging Het
Sox10 G T 15: 79,043,393 (GRCm39) D52E probably benign Het
St3gal5 C A 6: 72,105,266 (GRCm39) T6N probably benign Het
Tbc1d22a A G 15: 86,183,870 (GRCm39) D243G probably benign Het
Tll1 T C 8: 64,469,132 (GRCm39) Y997C possibly damaging Het
Tmem8b A T 4: 43,689,434 (GRCm39) H276L probably benign Het
Tnpo3 T C 6: 29,609,450 (GRCm39) Y12C probably damaging Het
Tns3 A T 11: 8,442,578 (GRCm39) M595K possibly damaging Het
Trav18 T A 14: 54,069,192 (GRCm39) M78K probably benign Het
Uba7 A G 9: 107,856,952 (GRCm39) probably benign Het
Vmn1r167 A T 7: 23,204,864 (GRCm39) S51T probably damaging Het
Vmn1r83 A T 7: 12,055,761 (GRCm39) Y99N probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Other mutations in Ntsr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Ntsr1 APN 2 180,184,335 (GRCm39) missense probably damaging 0.99
IGL01765:Ntsr1 APN 2 180,180,510 (GRCm39) missense possibly damaging 0.56
IGL02321:Ntsr1 APN 2 180,180,627 (GRCm39) critical splice donor site probably null
IGL03349:Ntsr1 APN 2 180,142,295 (GRCm39) missense probably benign
R0482:Ntsr1 UTSW 2 180,142,849 (GRCm39) missense possibly damaging 0.54
R0542:Ntsr1 UTSW 2 180,184,374 (GRCm39) missense probably damaging 1.00
R1081:Ntsr1 UTSW 2 180,180,549 (GRCm39) missense probably benign 0.14
R1241:Ntsr1 UTSW 2 180,142,394 (GRCm39) missense probably damaging 1.00
R1540:Ntsr1 UTSW 2 180,184,440 (GRCm39) missense probably damaging 0.99
R3718:Ntsr1 UTSW 2 180,184,499 (GRCm39) missense probably benign 0.00
R4206:Ntsr1 UTSW 2 180,142,545 (GRCm39) missense probably damaging 1.00
R5481:Ntsr1 UTSW 2 180,183,313 (GRCm39) missense possibly damaging 0.79
R5703:Ntsr1 UTSW 2 180,142,226 (GRCm39) missense probably damaging 0.98
R5975:Ntsr1 UTSW 2 180,142,581 (GRCm39) missense probably damaging 1.00
R6643:Ntsr1 UTSW 2 180,142,719 (GRCm39) missense probably damaging 1.00
R6754:Ntsr1 UTSW 2 180,184,476 (GRCm39) missense probably benign 0.00
R7295:Ntsr1 UTSW 2 180,142,725 (GRCm39) missense probably damaging 1.00
R7316:Ntsr1 UTSW 2 180,142,545 (GRCm39) missense probably damaging 1.00
R7765:Ntsr1 UTSW 2 180,180,610 (GRCm39) missense probably damaging 0.99
R7822:Ntsr1 UTSW 2 180,180,483 (GRCm39) missense probably damaging 1.00
R8087:Ntsr1 UTSW 2 180,141,965 (GRCm39) unclassified probably benign
R8555:Ntsr1 UTSW 2 180,180,470 (GRCm39) missense probably benign 0.08
R9447:Ntsr1 UTSW 2 180,180,540 (GRCm39) missense probably benign 0.10
R9628:Ntsr1 UTSW 2 180,183,274 (GRCm39) missense probably damaging 1.00
R9629:Ntsr1 UTSW 2 180,183,274 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16