Incidental Mutation 'RF017:Ntsr2'
ID 603635
Institutional Source Beutler Lab
Gene Symbol Ntsr2
Ensembl Gene ENSMUSG00000020591
Gene Name neurotensin receptor 2
Synonyms NTRL, NT2R
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # RF017 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 16703477-16710223 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 16709766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 349 (V349G)
Ref Sequence ENSEMBL: ENSMUSP00000106693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111064] [ENSMUST00000220892] [ENSMUST00000221049] [ENSMUST00000221596]
AlphaFold P70310
Predicted Effect probably damaging
Transcript: ENSMUST00000111064
AA Change: V349G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106693
Gene: ENSMUSG00000020591
AA Change: V349G

DomainStartEndE-ValueType
Pfam:7tm_1 49 358 4.2e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220892
Predicted Effect probably benign
Transcript: ENSMUST00000221049
Predicted Effect probably benign
Transcript: ENSMUST00000221596
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency 100% (29/29)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 ACCACC ACCACCACC 4: 132,790,062 (GRCm39) probably benign Het
Ankhd1 GGCGGC GGCGGCCGCGGC 18: 36,693,962 (GRCm39) probably benign Het
Anks1b G A 10: 89,869,087 (GRCm39) G49D probably damaging Het
AY358078 T TAGGATAATGA 14: 52,043,050 (GRCm39) probably null Het
Ccdc170 CCA CCAGCA 10: 4,511,024 (GRCm39) probably benign Het
Cfap251 AAGAGGAGGAAGAGGAGGGGGAGAAGGAG AAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGAAAGAGGAGGAAGAGGAGGGGGAGAAGGAG 5: 123,391,953 (GRCm39) probably benign Het
Cntrl C A 2: 35,065,201 (GRCm39) D2168E probably damaging Het
Dab1 C A 4: 104,570,849 (GRCm39) R195S probably benign Het
Dnmt1 AGCACAGTTCCTACCTCGTT AGCACAGTTCCTACCTCGTTTTGGGGGCGGCGCACAGTTCCTACCTCGTT 9: 20,821,422 (GRCm39) probably null Het
Elp6 A T 9: 110,148,777 (GRCm39) H222L probably damaging Het
Entpd2 CTT CTTT 2: 25,290,907 (GRCm39) probably null Het
Fgf22 A G 10: 79,592,680 (GRCm39) H125R probably benign Het
Galnt18 G A 7: 111,198,221 (GRCm39) R180C probably damaging Het
Garin5a GTCTGAGGGAGGA GTCTGAGGGAGGAAGGCTGGATCCTGGATACCTGGATCTGAGGGAGGA 7: 44,149,949 (GRCm39) probably null Het
Garin5a GGGAGGA GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA 7: 44,149,955 (GRCm39) probably null Het
Gm8369 GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG 19: 11,489,106 (GRCm39) probably null Het
Gpsm1 C A 2: 26,214,884 (GRCm39) H288Q probably damaging Het
Ipo7 A G 7: 109,648,001 (GRCm39) I628V probably benign Het
Irag2 GCACATTG GCACATTGATCACATTG 6: 145,119,510 (GRCm39) probably benign Het
Itpkb C T 1: 180,160,887 (GRCm39) R338W probably damaging Het
Krtap28-10 CACAGC CACAGCAACAGC 1: 83,019,859 (GRCm39) probably benign Het
Krtap28-10 CCACCACAGCCACAG CCACCACAGCCACAGTCACCACAGCCACAG 1: 83,019,987 (GRCm39) probably benign Het
Krtap4-2 CAGCAGGGGCGGCA C 11: 99,525,543 (GRCm39) probably null Het
Krtap4-9 TGCTGTGTGTCCAGCTGCTGCAG TGCTGTGTGTCCAGCTGCTGCAGGCCCAGCGGCTGTGTGTCCAGCTGCTGCAG 11: 99,676,225 (GRCm39) probably benign Het
Larp4b G T 13: 9,173,946 (GRCm39) G30V probably benign Het
Map1a CTCCAGCTCCA CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGGTCCAGCTCCA 2: 121,136,789 (GRCm39) probably benign Het
Mccc2 A C 13: 100,136,796 (GRCm39) V53G probably damaging Het
Meiosin T C 7: 18,836,354 (GRCm39) N291S unknown Het
Mug1 T A 6: 121,861,533 (GRCm39) Y1332N probably damaging Het
Nalf2 GCCGCC GCCGCCACCGCC X: 98,864,971 (GRCm39) probably benign Het
Ndnf A G 6: 65,681,313 (GRCm39) T531A probably damaging Het
Or2g25 A T 17: 37,970,672 (GRCm39) I184N probably damaging Het
P2ry14 A T 3: 59,022,467 (GRCm39) I331N probably benign Het
Pcdha11 T C 18: 37,138,577 (GRCm39) S69P possibly damaging Het
Ptp4a2 A G 4: 129,733,237 (GRCm39) probably benign Het
Ptpn13 A G 5: 103,741,446 (GRCm39) D2353G probably benign Het
Rasa2 GCC GCCCCC 9: 96,513,521 (GRCm39) probably benign Het
Raver2 A T 4: 100,960,195 (GRCm39) D225V probably damaging Het
Rph3a A T 5: 121,100,562 (GRCm39) probably null Het
Sin3a T A 9: 57,034,610 (GRCm39) V1261E possibly damaging Het
Slc12a9 T A 5: 137,323,812 (GRCm39) I368F probably damaging Het
Spaca1 CTCGC CTCGCTGTCGC 4: 34,049,853 (GRCm39) probably benign Het
Spata31h1 AA AACTGTCA 10: 82,126,826 (GRCm39) probably benign Het
Strn C CCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTG 17: 78,984,717 (GRCm39) probably null Het
Ush2a A C 1: 187,995,666 (GRCm39) T146P probably damaging Het
Usp37 A G 1: 74,509,849 (GRCm39) L440P probably damaging Het
Xpnpep1 T A 19: 53,020,491 (GRCm39) I24L probably benign 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
R5358:Ntsr2 UTSW 12 16,704,083 (GRCm39) missense probably damaging 1.00
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
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'- CATTGAGCCCTGTCAACAGAAAG -3'
(R):5'- CCAAGCAGCCATTGTTTGTTC -3'

Sequencing Primer
(F):5'- GAAAGAACTTCCTTGCTCACCTGG -3'
(R):5'- TGTATTTCACCCAGGCTGG -3'
Posted On 2019-12-04