Mutagenetix > Incidental Mutation

Incidental Mutation 'R6358:Ntsr2'

513353

Institutional Source

Beutler Lab

Gene Symbol

Ntsr2

Ensembl Gene

ENSMUSG00000020591

Gene Name

neurotensin receptor 2

Synonyms

NTRL, NT2R

MMRRC Submission

044508-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R6358 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16703477-16710223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16706769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 266 (I266V)

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: I266V

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106693
Gene: ENSMUSG00000020591
AA Change: I266V

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: I180V

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000221596
AA Change: I235V

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222957

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	C	8: 41,279,718 (GRCm39)	V703A	probably benign	Het
Adgrv1	T	A	13: 81,562,702 (GRCm39)	Q5389L	probably damaging	Het
Aldh18a1	A	T	19: 40,566,122 (GRCm39)	I42N	possibly damaging	Het
Ankrd28	A	C	14: 31,432,821 (GRCm39)	C575W	probably damaging	Het
Car14	T	A	3: 95,805,487 (GRCm39)	T329S	possibly damaging	Het
Cdhr2	T	C	13: 54,884,359 (GRCm39)	F1298S	probably damaging	Het
Crhr2	A	G	6: 55,070,028 (GRCm39)	I341T	probably benign	Het
D5Ertd579e	T	A	5: 36,773,580 (GRCm39)		probably null	Het
Eif1ad3	A	G	12: 87,843,770 (GRCm39)	E139G	unknown	Het
Emilin1	A	G	5: 31,075,562 (GRCm39)	E601G	probably damaging	Het
Erbin	T	A	13: 103,982,073 (GRCm39)	Q456L	probably damaging	Het
Glp1r	T	C	17: 31,151,618 (GRCm39)	V405A	probably benign	Het
Gm10220	C	G	5: 26,325,303 (GRCm39)		probably null	Het
Gm527	A	T	12: 64,970,322 (GRCm39)	H219L	possibly damaging	Het
Gorasp2	T	A	2: 70,503,104 (GRCm39)	M1K	probably null	Het
H2-DMa	T	A	17: 34,356,958 (GRCm39)	L152H	probably damaging	Het
Hsd3b7	T	A	7: 127,400,709 (GRCm39)	H54Q	probably damaging	Het
Hspa12b	T	C	2: 130,978,986 (GRCm39)		probably benign	Het
Iars1	C	A	13: 49,880,619 (GRCm39)	T1006K	possibly damaging	Het
Jmjd1c	T	C	10: 67,061,718 (GRCm39)	V1357A	probably benign	Het
Magi3	T	C	3: 103,958,268 (GRCm39)	M606V	probably damaging	Het
Mia	T	C	7: 26,880,403 (GRCm39)	D24G	probably benign	Het
Mon2	A	T	10: 122,849,409 (GRCm39)	L1297Q	probably damaging	Het
Musk	T	A	4: 58,373,171 (GRCm39)	S691T	possibly damaging	Het
Myo5c	A	T	9: 75,203,294 (GRCm39)	E1463D	possibly damaging	Het
Ndufs6	C	T	13: 73,468,438 (GRCm39)	G87D	probably damaging	Het
Npnt	C	T	3: 132,610,479 (GRCm39)	V415I	probably benign	Het
Or11j4	A	T	14: 50,630,845 (GRCm39)	I211F	possibly damaging	Het
Or5aq7	T	C	2: 86,938,778 (GRCm39)		probably benign	Het
Pkmyt1	T	A	17: 23,952,630 (GRCm39)		probably null	Het
Polr1e	T	C	4: 45,026,813 (GRCm39)	L166P	probably damaging	Het
Ppib	T	G	9: 65,968,756 (GRCm39)	F48C	probably damaging	Het
Ppl	C	A	16: 4,905,793 (GRCm39)	E1501*	probably null	Het
Prpf8	T	C	11: 75,382,321 (GRCm39)	V384A	probably benign	Het
Ptch1	T	G	13: 63,661,503 (GRCm39)	S1212R	probably damaging	Het
Ralb	C	A	1: 119,403,735 (GRCm39)	D131Y	probably damaging	Het
Rfx4	T	A	10: 84,680,099 (GRCm39)	M141K	probably damaging	Het
Rgl2	T	A	17: 34,156,105 (GRCm39)		probably null	Het
Rpl27	A	G	11: 101,334,782 (GRCm39)		probably benign	Het
Sdc1	A	C	12: 8,841,297 (GRCm39)	T213P	probably damaging	Het
Setx	T	A	2: 29,061,360 (GRCm39)	N2256K	possibly damaging	Het
Shank2	A	G	7: 143,585,034 (GRCm39)	M12V	probably benign	Het
Slc22a28	T	A	19: 8,049,253 (GRCm39)	K332M	probably damaging	Het
Slf2	A	T	19: 44,923,864 (GRCm39)	H226L	probably benign	Het
Tbc1d10b	T	C	7: 126,802,584 (GRCm39)	S362G	probably benign	Het
Tbxas1	G	A	6: 38,929,046 (GRCm39)		probably benign	Het
Tctn1	A	G	5: 122,399,575 (GRCm39)	V83A	probably damaging	Het
Tgm4	A	G	9: 122,885,583 (GRCm39)	E375G	probably damaging	Het
Tmeff2	T	A	1: 51,172,273 (GRCm39)	Y247*	probably null	Het
Tmem167b	C	T	3: 108,466,211 (GRCm39)	R79H	possibly damaging	Het
Tmprss7	T	G	16: 45,489,936 (GRCm39)	M429L	probably benign	Het
Tnfsf18	T	A	1: 161,331,148 (GRCm39)	D99E	probably benign	Het
Tnrc18	A	T	5: 142,713,736 (GRCm39)	S2534T	probably damaging	Het
Tnxb	A	G	17: 34,897,968 (GRCm39)	E872G	probably damaging	Het
Tomm40l	C	T	1: 171,047,206 (GRCm39)	V237I	possibly damaging	Het
Trbv2	A	G	6: 41,024,836 (GRCm39)	Q84R	probably benign	Het
Tspan18	T	C	2: 93,040,219 (GRCm39)	R179G	probably benign	Het
Tspan8	G	T	10: 115,669,132 (GRCm39)	V56L	probably benign	Het
Zbtb22	T	C	17: 34,137,711 (GRCm39)	S619P	probably damaging	Het
Zfp2	A	T	11: 50,791,428 (GRCm39)	I205N	probably damaging	Het
Zfpm1	A	G	8: 123,063,850 (GRCm39)		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
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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCTGATGTCCAGAGCCATAGG -3'
(R):5'- AGGAACTGATGGACACAATCCC -3'

Sequencing Primer
(F):5'- ACTCGGCATTACCTTCACAG -3'
(R):5'- ACACAATCCCTGGTCCTGG -3'

Posted On

2018-04-27