Incidental Mutation 'IGL00482:Ntsr2'
ID4434
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: 0.060) question?
Stock #IGL00482
Quality Score
Status
Chromosome12
Chromosomal Location16653382-16660227 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 16659848 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 377 (C377R)
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: C377R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106693
Gene: ENSMUSG00000020591
AA Change: C377R

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
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,200,289 T722A probably damaging Het
Akr1b10 G T 6: 34,388,902 probably benign Het
Amy1 G T 3: 113,556,132 T463K probably damaging Het
Arid4b T C 13: 14,191,134 probably benign Het
Arl2 A G 19: 6,141,052 L17P probably damaging Het
C2cd2 T C 16: 97,870,220 E493G probably damaging Het
Cdk19 A G 10: 40,469,648 E239G possibly damaging Het
Cit A G 5: 115,938,755 D719G probably damaging Het
Commd3 T C 2: 18,673,928 V58A possibly damaging Het
Cyp2c29 A C 19: 39,325,023 D360A probably damaging Het
Eps8 A G 6: 137,505,479 Y492H probably benign Het
Gk A G X: 85,760,601 L78P possibly damaging Het
Gm5884 A T 6: 128,646,203 noncoding transcript Het
Lat2 A T 5: 134,606,776 probably null Het
Lrrc4c C A 2: 97,630,385 S452* probably null Het
Padi3 A C 4: 140,803,624 M29R possibly damaging Het
Pcdh9 A G 14: 93,326,694 S1067P probably damaging Het
Prrc2a T C 17: 35,154,983 D1462G probably damaging Het
Rassf4 A G 6: 116,645,128 F168L possibly damaging Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Siglec1 C T 2: 131,079,325 R642Q probably benign Het
Snrnp200 T G 2: 127,230,135 V1214G possibly damaging Het
Sorcs3 G A 19: 48,603,864 G323S probably benign Het
Spidr A G 16: 16,114,969 V149A possibly damaging Het
Stat4 A T 1: 52,074,697 I189F probably benign Het
Tep1 T C 14: 50,843,184 Y1387C probably damaging Het
Tmprss9 G A 10: 80,894,428 probably null Het
Other mutations in Ntsr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01973:Ntsr2 APN 12 16656774 missense probably benign 0.01
IGL02202:Ntsr2 APN 12 16653660 missense probably damaging 0.99
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
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 On2012-04-20