Incidental Mutation 'R5703:Ntsr1'
ID 451782
Institutional Source Beutler Lab
Gene Symbol Ntsr1
Ensembl Gene ENSMUSG00000027568
Gene Name neurotensin receptor 1
Synonyms NTR-1, NTR1, Ntsr1, NT-1R
MMRRC Submission 043183-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R5703 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 180141769-180186772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 180142226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 6 (S6P)
Ref Sequence ENSEMBL: ENSMUSP00000127548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029084] [ENSMUST00000170448]
AlphaFold O88319
Predicted Effect probably damaging
Transcript: ENSMUST00000029084
AA Change: S6P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029084
Gene: ENSMUSG00000027568
AA Change: S6P

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 damaging
Transcript: ENSMUST00000170448
AA Change: S6P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127548
Gene: ENSMUSG00000027568
AA Change: S6P

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T A 1: 25,459,640 (GRCm39) N605I probably damaging Het
Btd C T 14: 31,389,004 (GRCm39) R242* probably null Het
Cdc42bpg A G 19: 6,372,703 (GRCm39) D1502G possibly damaging Het
Chst2 A G 9: 95,286,985 (GRCm39) F454L probably damaging Het
Col16a1 G A 4: 129,947,092 (GRCm39) A146T probably damaging Het
Cyp3a11 A T 5: 145,797,183 (GRCm39) S399T probably benign Het
Dspp C T 5: 104,324,917 (GRCm39) H427Y possibly damaging Het
Dtx4 A T 19: 12,459,574 (GRCm39) M410K possibly damaging Het
Ecpas A T 4: 58,877,171 (GRCm39) probably null Het
Epb41l2 C T 10: 25,317,665 (GRCm39) R61W probably damaging Het
Gbp6 T C 5: 105,421,147 (GRCm39) K553E probably benign Het
Git1 CCG C 11: 77,395,494 (GRCm39) probably null Het
Gm13199 C T 2: 5,867,259 (GRCm39) probably benign Het
Gramd2a G A 9: 59,615,299 (GRCm39) G13R probably benign Het
Hoxa2 G T 6: 52,140,243 (GRCm39) Q248K probably damaging Het
Hycc1 A T 5: 24,185,577 (GRCm39) probably null Het
Krt33b T C 11: 99,916,374 (GRCm39) T228A probably benign Het
Loxhd1 A G 18: 77,444,573 (GRCm39) E324G probably damaging Het
Map3k20 A G 2: 72,232,514 (GRCm39) N390S probably benign Het
Mroh7 A G 4: 106,565,757 (GRCm39) Y126H possibly damaging Het
Muc4 G A 16: 32,555,059 (GRCm39) W15* probably null Het
Ndrg2 T A 14: 52,147,579 (GRCm39) probably null Het
Or5m10 T C 2: 85,717,783 (GRCm39) I213T probably benign Het
Or5p70 G A 7: 107,994,707 (GRCm39) V127I probably benign Het
Pcdhb6 A T 18: 37,467,753 (GRCm39) T225S probably benign Het
Rfng C A 11: 120,672,842 (GRCm39) V294L probably benign Het
Scml4 C T 10: 42,741,566 (GRCm39) probably benign Het
Slc5a2 A G 7: 127,869,787 (GRCm39) I407V possibly damaging Het
Strc T C 2: 121,201,295 (GRCm39) T1267A probably benign Het
Tanc1 T C 2: 59,626,341 (GRCm39) V566A probably damaging Het
Tas1r2 T C 4: 139,394,647 (GRCm39) S468P probably damaging Het
Tenm2 T A 11: 35,914,626 (GRCm39) T2304S probably benign Het
Tirap A T 9: 35,100,054 (GRCm39) L210Q probably damaging Het
Vav3 A T 3: 109,248,557 (GRCm39) Q68L probably benign Het
Vmn2r54 C T 7: 12,363,594 (GRCm39) S433N probably benign Het
Wars1 A T 12: 108,841,047 (GRCm39) Y244N probably damaging Het
Zc3h6 A G 2: 128,835,372 (GRCm39) probably benign 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
IGL02137:Ntsr1 APN 2 180,180,628 (GRCm39) critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- AAGAAGAGTGGATCCCTGAGCC -3'
(R):5'- TATACAGCGGTCACCAGCAC -3'

Sequencing Primer
(F):5'- TCTCGAGCCCCAGAGCTC -3'
(R):5'- CAGCACCTTGGAATAAATGTCAGTG -3'
Posted On 2017-01-03