Incidental Mutation 'IGL02585:Nts'
ID 299517
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nts
Ensembl Gene ENSMUSG00000019890
Gene Name neurotensin
Synonyms 5033428E16Rik, NT/N, NTS1, NMN-125, neuromedin N
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02585
Quality Score
Status
Chromosome 10
Chromosomal Location 102317617-102326294 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102318329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 125 (I125F)
Ref Sequence ENSEMBL: ENSMUSP00000020040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020040]
AlphaFold Q9D3P9
Predicted Effect probably benign
Transcript: ENSMUST00000020040
AA Change: I125F

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000020040
Gene: ENSMUSG00000019890
AA Change: I125F

DomainStartEndE-ValueType
Pfam:Pro-NT_NN 3 169 2.4e-77 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 common precursor for two peptides, neuromedin N and neurotensin. Neurotensin is a secreted tridecapeptide, which is widely distributed throughout the central nervous system, and may function as a neurotransmitter or a neuromodulator. It may be involved in dopamine-associated pathophysiological events, in the maintenance of gut structure and function, and in the regulation of fat metabolism. Neurotensin also exhibits antimicrobial activity against bacteria and fungi. Tissue-specific processing may lead to the formation in some tissues of larger forms of neuromedin N and neurotensin. The large forms may represent more stable peptides that are also biologically active. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile, and grossly normal, but display altered responses to antipsychotic drugs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,592,121 (GRCm39) I603T possibly damaging Het
Aebp1 A G 11: 5,820,855 (GRCm39) probably null Het
Atp5me T C 5: 108,581,936 (GRCm39) Y16C probably damaging Het
Ccdc122 A T 14: 77,330,202 (GRCm39) probably benign Het
Ccdc83 C T 7: 89,886,120 (GRCm39) R213Q probably damaging Het
Cd38 G A 5: 44,067,644 (GRCm39) V292M probably damaging Het
Eps8l1 T C 7: 4,472,212 (GRCm39) S26P probably damaging Het
Gdpd1 A T 11: 86,964,802 (GRCm39) M1K probably null Het
Inmt T A 6: 55,150,431 (GRCm39) I69F probably damaging Het
Lrrc19 A T 4: 94,531,562 (GRCm39) S17T probably benign Het
Macf1 G T 4: 123,366,077 (GRCm39) Q1330K probably benign Het
Map4k3 C A 17: 80,961,348 (GRCm39) probably benign Het
Musk A G 4: 58,347,849 (GRCm39) T329A probably benign Het
Nhs T C X: 160,624,760 (GRCm39) E863G probably damaging Het
Odr4 T A 1: 150,239,272 (GRCm39) T384S probably damaging Het
Phip G A 9: 82,785,241 (GRCm39) L825F probably benign Het
Prr14l T C 5: 32,986,828 (GRCm39) H889R possibly damaging Het
Rbm15b T C 9: 106,763,025 (GRCm39) Q381R probably benign Het
Rtn1 C A 12: 72,354,929 (GRCm39) probably null Het
Ryr3 A G 2: 112,542,648 (GRCm39) L3167P probably damaging Het
Scfd1 G A 12: 51,433,890 (GRCm39) E61K probably damaging Het
Sgce A G 6: 4,711,388 (GRCm39) probably benign Het
Slc17a6 T A 7: 51,275,097 (GRCm39) V52E probably benign Het
Slc38a11 T C 2: 65,166,135 (GRCm39) D212G probably benign Het
Snx14 T C 9: 88,286,571 (GRCm39) K356R possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssc4d A G 5: 135,999,192 (GRCm39) S4P possibly damaging Het
Tas2r119 A G 15: 32,177,679 (GRCm39) T82A probably benign Het
Ush2a A T 1: 188,460,530 (GRCm39) Q2597L probably benign Het
Uspl1 C T 5: 149,150,872 (GRCm39) Q691* probably null Het
Ythdf3 T C 3: 16,243,642 (GRCm39) V17A probably benign Het
Zscan29 T A 2: 120,994,357 (GRCm39) R543* probably null Het
Other mutations in Nts
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02475:Nts APN 10 102,326,108 (GRCm39) splice site probably benign
IGL02838:Nts APN 10 102,318,290 (GRCm39) missense probably damaging 0.98
R1962:Nts UTSW 10 102,320,918 (GRCm39) missense probably damaging 1.00
R4433:Nts UTSW 10 102,320,888 (GRCm39) missense probably benign 0.00
R6063:Nts UTSW 10 102,320,856 (GRCm39) missense probably benign 0.25
R6735:Nts UTSW 10 102,320,859 (GRCm39) missense probably benign
R7640:Nts UTSW 10 102,326,165 (GRCm39) missense possibly damaging 0.74
R7723:Nts UTSW 10 102,320,784 (GRCm39) missense probably damaging 1.00
R8458:Nts UTSW 10 102,320,921 (GRCm39) missense probably damaging 0.98
R8886:Nts UTSW 10 102,320,868 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16