Incidental Mutation 'IGL01973:Ntsr2'
ID182592
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: 0.064) question?
Stock #IGL01973
Quality Score
Status
Chromosome12
Chromosomal Location16653382-16660227 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 16656774 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 268 (W268R)
Ref Sequence ENSEMBL: ENSMUSP00000106693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111064] [ENSMUST00000220892] [ENSMUST00000221049] [ENSMUST00000221596]
Predicted Effect probably benign
Transcript: ENSMUST00000111064
AA Change: W268R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000106693
Gene: ENSMUSG00000020591
AA Change: W268R

DomainStartEndE-ValueType
Pfam:7tm_1 49 358 4.2e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220892
Predicted Effect probably benign
Transcript: ENSMUST00000221049
AA Change: W182R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000221596
AA Change: W237R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik A G 12: 17,011,171 W59R probably damaging Het
Adam17 C T 12: 21,349,943 R154K probably damaging Het
Atp9b A T 18: 80,758,303 F791I probably benign Het
Atr T G 9: 95,871,674 S776R probably damaging Het
AW554918 A T 18: 25,419,999 T487S probably damaging Het
Bckdhb T A 9: 83,991,736 F217Y probably benign Het
Cacna1i G A 15: 80,382,033 A1574T probably damaging Het
Ccdc150 G A 1: 54,300,488 probably null Het
Clca4c-ps A T 3: 144,879,832 noncoding transcript Het
Clec4a1 T C 6: 122,930,721 S123P probably damaging Het
Col6a4 T C 9: 106,062,894 Y1279C probably damaging Het
Cox8c T A 12: 102,899,367 M1K probably null Het
Crat G T 2: 30,405,481 S370Y probably damaging Het
Cts7 A T 13: 61,355,600 D183E probably benign Het
Cyp1a2 C A 9: 57,682,395 W45C probably damaging Het
Eml5 T A 12: 98,863,280 I492L probably benign Het
Fbxl4 T G 4: 22,422,766 L456R probably damaging Het
Flt1 G T 5: 147,683,889 H148Q probably benign Het
Galnt3 T C 2: 66,084,262 M604V probably benign Het
Gatb T C 3: 85,611,424 V279A probably damaging Het
Gm6904 A G 14: 59,251,129 V73A probably benign Het
Gm996 G T 2: 25,579,572 S109* probably null Het
Heatr1 C A 13: 12,429,799 H1543Q probably benign Het
Ighg2b C T 12: 113,307,685 V83I unknown Het
Jcad A G 18: 4,675,514 Q1092R probably benign Het
Kirrel3 A G 9: 35,016,468 E6G probably damaging Het
Klhl22 A G 16: 17,792,711 S609G probably benign Het
Kntc1 A G 5: 123,765,958 Y346C probably damaging Het
Maneal T C 4: 124,859,155 D233G probably benign Het
Mcm3ap T C 10: 76,471,117 S355P probably benign Het
Mettl11b A G 1: 163,717,120 I98T probably benign Het
Mtus2 C T 5: 148,303,476 probably benign Het
Muc4 A G 16: 32,754,265 T1380A probably benign Het
Nedd4 T A 9: 72,736,934 M661K possibly damaging Het
Nomo1 T C 7: 46,083,227 probably benign Het
Nup188 A C 2: 30,339,850 Q1360P possibly damaging Het
Olfr15 A T 16: 3,839,777 Q268L probably damaging Het
Olfr231 A G 1: 174,117,533 F161S probably damaging Het
Pabpc1 A T 15: 36,599,275 V392E probably benign Het
Pcdhb11 C A 18: 37,423,512 R632S probably damaging Het
Pnpla6 T A 8: 3,517,619 M87K probably damaging Het
Prkd1 C T 12: 50,366,379 G670R probably damaging Het
Raf1 G A 6: 115,676,569 probably benign Het
Rapgef2 T A 3: 79,091,809 probably null Het
Rnf215 A T 11: 4,136,615 H164L probably damaging Het
Slc24a3 T C 2: 145,245,027 V19A probably benign Het
Tbc1d16 A T 11: 119,156,707 V396E probably benign Het
Tecpr1 T C 5: 144,197,988 probably benign Het
Thap12 T A 7: 98,716,499 Y625N possibly damaging Het
Tshz2 A T 2: 169,884,683 M400L probably damaging Het
Ttc28 A G 5: 111,224,235 Y850C possibly damaging Het
Ugt1a7c A G 1: 88,095,134 D5G probably benign Het
Vmn2r10 C T 5: 108,995,677 M802I probably damaging Het
Washc4 T C 10: 83,556,109 Y220H probably damaging Het
Zfhx3 T A 8: 108,947,193 M1625K probably damaging Het
Zfp677 T A 17: 21,396,907 N75K probably damaging Het
Zzz3 T C 3: 152,428,370 V355A probably benign Het
Other mutations in Ntsr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Ntsr2 APN 12 16659848 missense probably damaging 0.97
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
X0064:Ntsr2 UTSW 12 16656757 missense probably damaging 1.00
Posted On2014-05-07