Incidental Mutation 'R5358:Ntsr2'
ID 424196
Institutional Source Beutler Lab
Gene Symbol Ntsr2
Ensembl Gene ENSMUSG00000020591
Gene Name neurotensin receptor 2
Synonyms NTRL, NT2R
MMRRC Submission 042937-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R5358 (G1)
Quality Score 194
Status Not validated
Chromosome 12
Chromosomal Location 16703477-16710223 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 16704083 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 109 (T109P)
Ref Sequence ENSEMBL: ENSMUSP00000152592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111064] [ENSMUST00000220892] [ENSMUST00000221049] [ENSMUST00000221596]
AlphaFold P70310
Predicted Effect probably damaging
Transcript: ENSMUST00000111064
AA Change: T195P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106693
Gene: ENSMUSG00000020591
AA Change: T195P

DomainStartEndE-ValueType
Pfam:7tm_1 49 358 4.2e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000220892
AA Change: T195P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000221049
AA Change: T109P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000221596
AA Change: T195P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222957
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the G protein-coupled receptor family that activate a phosphatidylinositol-calcium second messenger system. Binding and pharmacological studies demonstrate that this receptor binds neurotensin as well as several other ligands already described for neurotensin NT1 receptor. However, unlike NT1 receptor, this gene recognizes, with high affinity, levocabastine, a histamine H1 receptor antagonist previously shown to compete with neurotensin for low-affinity binding sites in brain. These activities suggest that this receptor may be of physiological importance and that a natural agonist for the receptor may exist. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit abnormal thermal nociception. Mice homozygous for different knock-out allele exhibit increased prepulse inhibition and decreased accoustic startle response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,849,165 (GRCm39) V1842A probably damaging Het
Abi3 A T 11: 95,732,934 (GRCm39) F13L probably benign Het
Adgre4 A G 17: 56,125,758 (GRCm39) K538R probably benign Het
Bcas3 C T 11: 85,342,581 (GRCm39) H191Y probably benign Het
Bicdl2 A G 17: 23,886,538 (GRCm39) T376A probably benign Het
Ceacam18 C A 7: 43,286,497 (GRCm39) N123K possibly damaging Het
Celsr3 C T 9: 108,709,224 (GRCm39) R1357C possibly damaging Het
Chek2 T C 5: 110,989,148 (GRCm39) probably benign Het
Chmp7 A G 14: 69,958,684 (GRCm39) V210A probably benign Het
Chrm2 A G 6: 36,500,290 (GRCm39) K49R probably damaging Het
Ciao2b T C 8: 105,368,282 (GRCm39) N14S probably damaging Het
Daam1 T A 12: 71,999,233 (GRCm39) L623* probably null Het
Ddx31 T A 2: 28,753,782 (GRCm39) C448S probably damaging Het
Dnah7a A G 1: 53,586,331 (GRCm39) S1507P probably damaging Het
Dnah8 C A 17: 30,965,928 (GRCm39) T2420K probably damaging Het
Dyrk3 C T 1: 131,057,432 (GRCm39) R247H probably damaging Het
Exoc4 A G 6: 33,242,934 (GRCm39) E49G probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Foxj3 A G 4: 119,476,596 (GRCm39) E258G probably damaging Het
Gata4 C T 14: 63,478,075 (GRCm39) A175T probably benign Het
Helz2 C T 2: 180,877,321 (GRCm39) E1106K probably damaging Het
Hip1 G T 5: 135,465,252 (GRCm39) S385R probably benign Het
Igsf9 C T 1: 172,312,078 (GRCm39) T8I probably benign Het
Insyn2b G A 11: 34,352,788 (GRCm39) E277K probably damaging Het
Katnal2 A G 18: 77,105,190 (GRCm39) Y86H possibly damaging Het
Kcnh6 A T 11: 105,918,417 (GRCm39) I756F possibly damaging Het
Kdm5b C T 1: 134,535,432 (GRCm39) R570* probably null Het
Kif16b T A 2: 142,582,889 (GRCm39) R545S probably damaging Het
Kif21b T A 1: 136,100,030 (GRCm39) I1528N possibly damaging Het
Kmt2a T C 9: 44,730,571 (GRCm39) probably benign Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Melk C T 4: 44,363,730 (GRCm39) T592M probably damaging Het
Mknk2 T C 10: 80,507,597 (GRCm39) T60A probably benign Het
Ncoa6 T C 2: 155,248,907 (GRCm39) K1466E probably damaging Het
Nup214 C A 2: 31,907,158 (GRCm39) S995Y unknown Het
Or2a5 A T 6: 42,873,454 (GRCm39) Q23L probably benign Het
Pclo T A 5: 14,762,750 (GRCm39) L456* probably null Het
Pde5a A G 3: 122,541,825 (GRCm39) D105G probably damaging Het
Pik3c3 C A 18: 30,456,597 (GRCm39) P709H probably damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rab3c T C 13: 110,198,497 (GRCm39) N179S possibly damaging Het
Setdb2 T A 14: 59,646,885 (GRCm39) R559S probably benign Het
Sf3b1 A G 1: 55,042,469 (GRCm39) Y474H probably benign Het
Slc6a6 G T 6: 91,712,155 (GRCm39) W228L probably benign Het
Slc8a2 T G 7: 15,891,228 (GRCm39) I750S probably damaging Het
Slco2b1 T A 7: 99,309,251 (GRCm39) I194L unknown Het
Smarcd1 C T 15: 99,601,128 (GRCm39) Q45* probably null Het
Srcap T G 7: 127,139,492 (GRCm39) L1271R probably damaging Het
Srsf12 A T 4: 33,209,330 (GRCm39) N9Y probably damaging Het
St7 T C 6: 17,819,317 (GRCm39) S74P probably damaging Het
Stxbp5l T A 16: 36,994,688 (GRCm39) E739V probably damaging Het
Sun3 T A 11: 8,981,496 (GRCm39) Q36L possibly damaging Het
Tbc1d32 T C 10: 56,047,033 (GRCm39) H545R possibly damaging Het
Tcp11 A T 17: 28,296,994 (GRCm39) C133S probably benign Het
Tm6sf2 T C 8: 70,526,939 (GRCm39) V36A possibly damaging Het
Tmem108 T C 9: 103,376,717 (GRCm39) Y244C probably damaging Het
Tra2a A T 6: 49,227,949 (GRCm39) probably benign Het
Trpm3 A T 19: 22,903,332 (GRCm39) I1031F probably damaging Het
Ttll3 A G 6: 113,378,292 (GRCm39) K381E probably benign Het
Uaca T C 9: 60,778,430 (GRCm39) V937A probably benign Het
Umod C T 7: 119,071,577 (GRCm39) G388D probably damaging Het
Vmn2r90 G A 17: 17,924,412 (GRCm39) probably null Het
Zbtb47 T A 9: 121,594,661 (GRCm39) F540Y probably damaging Het
Zfp644 G A 5: 106,783,541 (GRCm39) T1002I probably damaging Het
Zfp738 A G 13: 67,819,131 (GRCm39) Y287H probably damaging Het
Zfyve16 T C 13: 92,644,771 (GRCm39) T1144A probably benign Het
Zgrf1 T C 3: 127,361,352 (GRCm39) probably null Het
Other mutations in Ntsr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Ntsr2 APN 12 16,709,849 (GRCm39) missense probably damaging 0.97
IGL01973:Ntsr2 APN 12 16,706,775 (GRCm39) missense probably benign 0.01
IGL02202:Ntsr2 APN 12 16,703,661 (GRCm39) missense probably damaging 0.99
IGL02493:Ntsr2 APN 12 16,708,390 (GRCm39) missense possibly damaging 0.90
IGL02837:Ntsr2 UTSW 12 16,703,876 (GRCm39) missense probably damaging 0.99
R0066:Ntsr2 UTSW 12 16,704,120 (GRCm39) missense probably benign 0.09
R0066:Ntsr2 UTSW 12 16,704,120 (GRCm39) missense probably benign 0.09
R0381:Ntsr2 UTSW 12 16,709,719 (GRCm39) nonsense probably null
R0437:Ntsr2 UTSW 12 16,703,696 (GRCm39) missense probably damaging 1.00
R0666:Ntsr2 UTSW 12 16,703,981 (GRCm39) missense probably benign 0.28
R0751:Ntsr2 UTSW 12 16,704,031 (GRCm39) missense probably damaging 1.00
R1919:Ntsr2 UTSW 12 16,704,111 (GRCm39) missense probably damaging 0.96
R2190:Ntsr2 UTSW 12 16,704,018 (GRCm39) missense probably damaging 1.00
R5323:Ntsr2 UTSW 12 16,709,934 (GRCm39) missense probably benign 0.00
R6282:Ntsr2 UTSW 12 16,708,426 (GRCm39) missense probably damaging 1.00
R6358:Ntsr2 UTSW 12 16,706,769 (GRCm39) missense probably benign 0.29
R6523:Ntsr2 UTSW 12 16,706,697 (GRCm39) missense probably benign 0.05
R6837:Ntsr2 UTSW 12 16,709,710 (GRCm39) missense probably benign 0.04
R8396:Ntsr2 UTSW 12 16,706,821 (GRCm39) missense probably damaging 1.00
R8418:Ntsr2 UTSW 12 16,706,662 (GRCm39) missense possibly damaging 0.83
R8784:Ntsr2 UTSW 12 16,706,852 (GRCm39) missense probably damaging 0.99
RF017:Ntsr2 UTSW 12 16,709,766 (GRCm39) missense probably damaging 0.99
X0064:Ntsr2 UTSW 12 16,706,758 (GRCm39) missense probably damaging 1.00
Z1177:Ntsr2 UTSW 12 16,703,663 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- TCGTGGCTATTACTTCGTGC -3'
(R):5'- ACCCTGGAGGAGTTGCTTTAG -3'

Sequencing Primer
(F):5'- TGAGCTGTGCGCCTACG -3'
(R):5'- GGAGTTGCTTTAGTTTCTTTCACTAC -3'
Posted On 2016-08-04