Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02493:Ntsr2'

295713

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: 0.052) question?

Stock #

IGL02493

Quality Score

Status

Chromosome

Chromosomal Location

16703477-16710223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16708390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 248 (S248T)

Ref Sequence

ENSEMBL: ENSMUSP00000152290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111064] [ENSMUST00000220892] [ENSMUST00000221049] [ENSMUST00000221596]

AlphaFold

P70310

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111064
AA Change: I308N

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106693
Gene: ENSMUSG00000020591
AA Change: I308N

Domain	Start	End	E-Value	Type
Pfam:7tm_1	49	358	4.2e-41	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220892
AA Change: S248T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000221049
AA Change: S203T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221596
AA Change: I277N

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	G	15: 59,888,312 (GRCm39)	S43R	probably benign	Het
Afap1l1	G	T	18: 61,870,594 (GRCm39)	Q595K	possibly damaging	Het
Alpk2	T	C	18: 65,483,402 (GRCm39)	E202G	probably benign	Het
Ap3b1	T	C	13: 94,540,528 (GRCm39)	V150A	probably damaging	Het
Bcas3	T	C	11: 85,386,708 (GRCm39)	I381T	probably damaging	Het
Best3	A	T	10: 116,860,506 (GRCm39)	R589W	possibly damaging	Het
Birc6	A	G	17: 74,959,054 (GRCm39)		probably benign	Het
Clcn4	A	C	7: 7,287,243 (GRCm39)	D728E	probably damaging	Het
Commd2	C	A	3: 57,559,080 (GRCm39)		probably benign	Het
Csrp1	T	A	1: 135,678,801 (GRCm39)	F175L	probably damaging	Het
Eif3c	A	T	7: 126,158,073 (GRCm39)	N294K	probably damaging	Het
Fam184a	A	G	10: 53,570,789 (GRCm39)		probably null	Het
Fndc1	G	T	17: 7,994,377 (GRCm39)	P297Q	unknown	Het
Galnt13	A	G	2: 54,770,149 (GRCm39)	I314V	probably benign	Het
Gimap6	T	A	6: 48,679,603 (GRCm39)	K144N	probably damaging	Het
Gm10188	A	T	1: 132,157,143 (GRCm39)	C74*	probably null	Het
Gpatch2	C	T	1: 186,965,325 (GRCm39)		probably benign	Het
Hace1	T	A	10: 45,464,515 (GRCm39)	M39K	probably damaging	Het
Has2	G	T	15: 56,531,320 (GRCm39)	T465K	probably damaging	Het
Homer3	T	A	8: 70,742,721 (GRCm39)	V144D	probably benign	Het
Ift140	A	T	17: 25,306,898 (GRCm39)	K878*	probably null	Het
Ikbip	A	G	10: 90,932,456 (GRCm39)	N367D	probably damaging	Het
Immt	T	C	6: 71,821,700 (GRCm39)		probably benign	Het
Isca1	A	G	13: 59,910,596 (GRCm39)	V32A	possibly damaging	Het
Kcnu1	T	A	8: 26,427,548 (GRCm39)	N288K	possibly damaging	Het
Kmt2b	C	T	7: 30,268,936 (GRCm39)		probably benign	Het
Lrguk	T	A	6: 34,106,127 (GRCm39)	D717E	probably benign	Het
Lrp1	C	T	10: 127,417,647 (GRCm39)	G1037E	probably damaging	Het
Man2a2	T	A	7: 80,019,363 (GRCm39)	Q37L	possibly damaging	Het
Msh4	C	T	3: 153,583,545 (GRCm39)		probably null	Het
Mtf1	C	T	4: 124,715,112 (GRCm39)	R246W	probably damaging	Het
Mvb12b	A	G	2: 33,730,221 (GRCm39)	S57P	probably benign	Het
Nat8f5	A	G	6: 85,794,544 (GRCm39)	F139L	probably benign	Het
Npepps	A	G	11: 97,128,985 (GRCm39)	F400L	probably damaging	Het
Oplah	G	A	15: 76,185,155 (GRCm39)	R853*	probably null	Het
Or5b98	T	C	19: 12,931,138 (GRCm39)	F62L	probably benign	Het
Or5p57	A	T	7: 107,665,012 (GRCm39)	M331K	possibly damaging	Het
Plekhh2	G	A	17: 84,914,391 (GRCm39)		probably null	Het
Pskh1	G	A	8: 106,656,388 (GRCm39)	V355I	probably benign	Het
Rab31	A	T	17: 66,024,547 (GRCm39)	M44K	possibly damaging	Het
Slc5a4b	A	G	10: 75,910,849 (GRCm39)	V329A	probably damaging	Het
Slc5a7	A	G	17: 54,600,908 (GRCm39)	Y76H	probably damaging	Het
Trappc14	T	C	5: 138,261,432 (GRCm39)		probably null	Het
Treh	A	T	9: 44,594,246 (GRCm39)	D164V	possibly damaging	Het
Trim6	A	G	7: 103,881,847 (GRCm39)	Y366C	probably benign	Het
Ubr7	T	C	12: 102,734,479 (GRCm39)	V251A	probably benign	Het
Vmn1r35	T	A	6: 66,656,463 (GRCm39)	N69I	possibly damaging	Het
Zan	A	G	5: 137,433,968 (GRCm39)	L2255P	unknown	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
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
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

2015-04-16