Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01973:Ntsr2'

182592

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01973

Quality Score

Status

Chromosome

Chromosomal Location

16703477-16710223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16706775 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

P70310

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	A	G	12: 17,061,172 (GRCm39)	W59R	probably damaging	Het
Adam17	C	T	12: 21,399,944 (GRCm39)	R154K	probably damaging	Het
Ajm1	G	T	2: 25,469,584 (GRCm39)	S109*	probably null	Het
Atp9b	A	T	18: 80,801,518 (GRCm39)	F791I	probably benign	Het
Atr	T	G	9: 95,753,727 (GRCm39)	S776R	probably damaging	Het
AW554918	A	T	18: 25,553,056 (GRCm39)	T487S	probably damaging	Het
Bckdhb	T	A	9: 83,873,789 (GRCm39)	F217Y	probably benign	Het
Cacna1i	G	A	15: 80,266,234 (GRCm39)	A1574T	probably damaging	Het
Ccdc150	G	A	1: 54,339,647 (GRCm39)		probably null	Het
Clca4c-ps	A	T	3: 144,585,593 (GRCm39)		noncoding transcript	Het
Clec4a1	T	C	6: 122,907,680 (GRCm39)	S123P	probably damaging	Het
Col6a4	T	C	9: 105,940,093 (GRCm39)	Y1279C	probably damaging	Het
Cox8c	T	A	12: 102,865,626 (GRCm39)	M1K	probably null	Het
Crat	G	T	2: 30,295,493 (GRCm39)	S370Y	probably damaging	Het
Cts7	A	T	13: 61,503,414 (GRCm39)	D183E	probably benign	Het
Cyp1a2	C	A	9: 57,589,678 (GRCm39)	W45C	probably damaging	Het
Eml5	T	A	12: 98,829,539 (GRCm39)	I492L	probably benign	Het
Fbxl4	T	G	4: 22,422,766 (GRCm39)	L456R	probably damaging	Het
Flt1	G	T	5: 147,620,699 (GRCm39)	H148Q	probably benign	Het
Galnt3	T	C	2: 65,914,606 (GRCm39)	M604V	probably benign	Het
Gatb	T	C	3: 85,518,731 (GRCm39)	V279A	probably damaging	Het
Heatr1	C	A	13: 12,444,680 (GRCm39)	H1543Q	probably benign	Het
Ighg2b	C	T	12: 113,271,305 (GRCm39)	V83I	unknown	Het
Jcad	A	G	18: 4,675,514 (GRCm39)	Q1092R	probably benign	Het
Kirrel3	A	G	9: 34,927,764 (GRCm39)	E6G	probably damaging	Het
Klhl22	A	G	16: 17,610,575 (GRCm39)	S609G	probably benign	Het
Kntc1	A	G	5: 123,904,021 (GRCm39)	Y346C	probably damaging	Het
Maneal	T	C	4: 124,752,948 (GRCm39)	D233G	probably benign	Het
Mcm3ap	T	C	10: 76,306,951 (GRCm39)	S355P	probably benign	Het
Mtus2	C	T	5: 148,240,286 (GRCm39)		probably benign	Het
Muc4	A	G	16: 32,575,383 (GRCm39)	T1380A	probably benign	Het
Nedd4	T	A	9: 72,644,216 (GRCm39)	M661K	possibly damaging	Het
Nomo1	T	C	7: 45,732,651 (GRCm39)		probably benign	Het
Ntmt2	A	G	1: 163,544,689 (GRCm39)	I98T	probably benign	Het
Nup188	A	C	2: 30,229,862 (GRCm39)	Q1360P	possibly damaging	Het
Or2c1	A	T	16: 3,657,641 (GRCm39)	Q268L	probably damaging	Het
Or6k6	A	G	1: 173,945,099 (GRCm39)	F161S	probably damaging	Het
Pabpc1	A	T	15: 36,599,519 (GRCm39)	V392E	probably benign	Het
Pcdhb11	C	A	18: 37,556,565 (GRCm39)	R632S	probably damaging	Het
Phf11	A	G	14: 59,488,578 (GRCm39)	V73A	probably benign	Het
Pnpla6	T	A	8: 3,567,619 (GRCm39)	M87K	probably damaging	Het
Prkd1	C	T	12: 50,413,162 (GRCm39)	G670R	probably damaging	Het
Raf1	G	A	6: 115,653,530 (GRCm39)		probably benign	Het
Rapgef2	T	A	3: 78,999,116 (GRCm39)		probably null	Het
Rnf215	A	T	11: 4,086,615 (GRCm39)	H164L	probably damaging	Het
Slc24a3	T	C	2: 145,086,947 (GRCm39)	V19A	probably benign	Het
Tbc1d16	A	T	11: 119,047,533 (GRCm39)	V396E	probably benign	Het
Tecpr1	T	C	5: 144,134,806 (GRCm39)		probably benign	Het
Thap12	T	A	7: 98,365,706 (GRCm39)	Y625N	possibly damaging	Het
Tshz2	A	T	2: 169,726,603 (GRCm39)	M400L	probably damaging	Het
Ttc28	A	G	5: 111,372,101 (GRCm39)	Y850C	possibly damaging	Het
Ugt1a7c	A	G	1: 88,022,856 (GRCm39)	D5G	probably benign	Het
Vmn2r10	C	T	5: 109,143,543 (GRCm39)	M802I	probably damaging	Het
Washc4	T	C	10: 83,391,973 (GRCm39)	Y220H	probably damaging	Het
Zfhx3	T	A	8: 109,673,825 (GRCm39)	M1625K	probably damaging	Het
Zfp677	T	A	17: 21,617,169 (GRCm39)	N75K	probably damaging	Het
Zzz3	T	C	3: 152,134,007 (GRCm39)	V355A	probably benign	Het

Other mutations in Ntsr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Ntsr2	APN	12	16,709,849 (GRCm39)	missense	probably damaging	0.97
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
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

Posted On

2014-05-07