Incidental Mutation 'IGL02202:Ntsr2'
ID284375
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ntsr2
Ensembl Gene ENSMUSG00000020591
Gene Nameneurotensin receptor 2
SynonymsNTRL, NT2R
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL02202
Quality Score
Status
Chromosome12
Chromosomal Location16653382-16660227 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 16653660 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 54 (V54E)
Ref Sequence ENSEMBL: ENSMUSP00000106693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111064] [ENSMUST00000220892] [ENSMUST00000221049] [ENSMUST00000221596]
Predicted Effect probably damaging
Transcript: ENSMUST00000111064
AA Change: V54E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106693
Gene: ENSMUSG00000020591
AA Change: V54E

DomainStartEndE-ValueType
Pfam:7tm_1 49 358 4.2e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000220892
AA Change: V54E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000221049
Predicted Effect probably damaging
Transcript: ENSMUST00000221596
AA Change: V54E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222957
Coding Region Coverage
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,288,529 T709I possibly damaging Het
Arhgef1 T A 7: 24,913,429 Y185* probably null Het
Atxn7l1 T C 12: 33,342,078 S218P probably benign Het
Cd200r2 T A 16: 44,909,360 L126Q probably damaging Het
Cdc6 T A 11: 98,920,815 probably null Het
Cenph T C 13: 100,761,873 N174S probably benign Het
Cep192 A G 18: 67,803,137 R49G possibly damaging Het
Edrf1 A G 7: 133,656,970 T692A probably benign Het
Frem2 A T 3: 53,654,799 H762Q probably benign Het
Gli2 T C 1: 118,836,866 D1185G probably damaging Het
Gm498 T A 7: 143,894,173 M251K possibly damaging Het
Hsd3b2 T A 3: 98,711,867 Y254F possibly damaging Het
Itgal C A 7: 127,330,179 Y1089* probably null Het
Klf11 T G 12: 24,653,632 V22G probably benign Het
Morc3 T C 16: 93,870,861 V636A probably benign Het
Nin T A 12: 70,055,436 D330V probably damaging Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Olfr845 C A 9: 19,339,249 A263E probably benign Het
Pdha2 T C 3: 141,210,651 I365M probably benign Het
Prr19 T C 7: 25,304,037 S359P probably damaging Het
Ryr2 T C 13: 11,730,388 K2040E probably damaging Het
Ryr2 C A 13: 11,747,658 probably benign Het
Sema4a G T 3: 88,449,743 A307E probably damaging Het
Setd5 T A 6: 113,151,015 S1310T probably benign Het
Tph1 A T 7: 46,653,761 D264E probably benign Het
Zc3h6 T C 2: 129,016,581 L844P probably damaging Het
Other mutations in Ntsr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Ntsr2 APN 12 16659848 missense probably damaging 0.97
IGL01973:Ntsr2 APN 12 16656774 missense probably benign 0.01
IGL02493:Ntsr2 APN 12 16658389 missense possibly damaging 0.90
IGL02837:Ntsr2 UTSW 12 16653875 missense probably damaging 0.99
R0066:Ntsr2 UTSW 12 16654119 missense probably benign 0.09
R0066:Ntsr2 UTSW 12 16654119 missense probably benign 0.09
R0381:Ntsr2 UTSW 12 16659718 nonsense probably null
R0437:Ntsr2 UTSW 12 16653695 missense probably damaging 1.00
R0666:Ntsr2 UTSW 12 16653980 missense probably benign 0.28
R0751:Ntsr2 UTSW 12 16654030 missense probably damaging 1.00
R1919:Ntsr2 UTSW 12 16654110 missense probably damaging 0.96
R2190:Ntsr2 UTSW 12 16654017 missense probably damaging 1.00
R5323:Ntsr2 UTSW 12 16659933 missense probably benign 0.00
R5358:Ntsr2 UTSW 12 16654082 missense probably damaging 1.00
R6282:Ntsr2 UTSW 12 16658425 missense probably damaging 1.00
R6358:Ntsr2 UTSW 12 16656768 missense probably benign 0.29
R6523:Ntsr2 UTSW 12 16656696 missense probably benign 0.05
R6837:Ntsr2 UTSW 12 16659709 missense probably benign 0.04
R8396:Ntsr2 UTSW 12 16656820 missense probably damaging 1.00
RF017:Ntsr2 UTSW 12 16659765 missense probably damaging 0.99
X0064:Ntsr2 UTSW 12 16656757 missense probably damaging 1.00
Z1177:Ntsr2 UTSW 12 16653662 missense possibly damaging 0.84
Posted On2015-04-16