Mutagenetix > Incidental Mutation

Incidental Mutation 'R7295:Ntsr1'

566657

Institutional Source

Beutler Lab

Gene Symbol

Ntsr1

Ensembl Gene

ENSMUSG00000027568

Gene Name

neurotensin receptor 1

Synonyms

NTR-1, NTR1, Ntsr1, NT-1R

MMRRC Submission

045363-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R7295 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180141769-180186772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 180142725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 172 (H172L)

Ref Sequence

ENSEMBL: ENSMUSP00000029084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029084] [ENSMUST00000170448]

AlphaFold

O88319

Predicted Effect

probably damaging
Transcript: ENSMUST00000029084
AA Change: H172L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029084
Gene: ENSMUSG00000027568
AA Change: H172L

Domain	Start	End	E-Value	Type
low complexity region	31	49	N/A	INTRINSIC
Pfam:7tm_1	80	369	7.5e-55	PFAM
Pfam:7TM_GPCR_Srv	82	386	1e-8	PFAM
low complexity region	392	398	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000170448
AA Change: H172L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127548
Gene: ENSMUSG00000027568
AA Change: H172L

Domain	Start	End	E-Value	Type
low complexity region	31	49	N/A	INTRINSIC
Pfam:7tm_4	70	283	6.7e-9	PFAM
Pfam:7tm_1	80	369	2e-51	PFAM
Pfam:7TM_GPCR_Srv	83	386	1.8e-8	PFAM
low complexity region	392	398	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Neurotensin receptor 1 belongs to the large superfamily of G-protein coupled receptors. NTSR1 mediates the multiple functions of neurotensin, such as hypotension, hyperglycemia, hypothermia, antinociception, and regulation of intestinal motility and secretion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice deficient for this marker have normal baseline prepulse inhibition responses and acoustic startle responses. Mice are heavier, eat more, and have lower body temperatures. [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
a	A	T	2: 154,887,678 (GRCm39)	D46V	probably damaging	Het
Acp7	A	T	7: 28,328,955 (GRCm39)	F75Y	possibly damaging	Het
Adamts19	T	A	18: 58,970,955 (GRCm39)	Y180N	probably damaging	Het
Adck1	G	T	12: 88,397,815 (GRCm39)	D150Y	probably damaging	Het
Alb	T	A	5: 90,610,693 (GRCm39)		probably null	Het
Baat	A	T	4: 49,490,275 (GRCm39)	Y270N	probably damaging	Het
Bmp7	A	T	2: 172,781,690 (GRCm39)	I58N	probably damaging	Het
Bpifb9a	C	T	2: 154,109,616 (GRCm39)	T504M	probably damaging	Het
Cbfa2t3	T	G	8: 123,364,768 (GRCm39)	D338A	probably benign	Het
Ccnd2	A	T	6: 127,125,725 (GRCm39)	C104S	possibly damaging	Het
Clip1	G	T	5: 123,765,419 (GRCm39)	Q713K	probably benign	Het
Ddx28	G	A	8: 106,737,476 (GRCm39)	S194L	probably benign	Het
Dync1h1	T	C	12: 110,631,183 (GRCm39)		probably null	Het
Edil3	T	A	13: 89,279,902 (GRCm39)	Y193*	probably null	Het
Eprs1	A	G	1: 185,150,407 (GRCm39)		probably null	Het
Ercc6l2	T	G	13: 63,967,589 (GRCm39)	I63R	probably damaging	Het
Fam171a2	T	C	11: 102,329,064 (GRCm39)	E565G	possibly damaging	Het
Fbn1	T	A	2: 125,177,407 (GRCm39)	D1810V	probably damaging	Het
Foxj2	T	C	6: 122,817,190 (GRCm39)	S506P	probably benign	Het
Frmpd1	A	G	4: 45,285,700 (GRCm39)	E1507G	probably damaging	Het
Gfm1	G	A	3: 67,347,514 (GRCm39)	V258I	probably benign	Het
Gphn	T	C	12: 78,538,876 (GRCm39)	V174A	probably benign	Het
Gtpbp3	C	A	8: 71,942,139 (GRCm39)	S123R	possibly damaging	Het
H2bc8	T	C	13: 23,755,943 (GRCm39)	S113P	probably benign	Het
Hbs1l	T	C	10: 21,186,051 (GRCm39)	V491A	probably benign	Het
Hoxc12	A	G	15: 102,846,810 (GRCm39)	N234S	probably damaging	Het
Il22b	A	T	10: 118,130,848 (GRCm39)	L16*	probably null	Het
Kcnj5	T	C	9: 32,234,087 (GRCm39)	D76G	probably damaging	Het
Klhl11	A	G	11: 100,363,068 (GRCm39)	Y163H	probably damaging	Het
Lonp1	G	T	17: 56,929,495 (GRCm39)	Q181K	possibly damaging	Het
Mgst1	A	T	6: 138,124,754 (GRCm39)	I23F	probably benign	Het
Muc21	G	A	17: 35,929,761 (GRCm39)	A1475V	unknown	Het
Myocos	T	C	1: 162,484,687 (GRCm39)	R41G	unknown	Het
Myod1	A	G	7: 46,027,643 (GRCm39)	D261G	probably benign	Het
Nop14	C	T	5: 34,796,376 (GRCm39)	R781Q	probably damaging	Het
Nsmaf	A	G	4: 6,438,083 (GRCm39)	V63A	probably benign	Het
Or4k6	T	C	14: 50,476,073 (GRCm39)	K90E	probably damaging	Het
Or8b1c	A	T	9: 38,384,739 (GRCm39)	E232V	probably benign	Het
Pcdha11	T	C	18: 37,139,979 (GRCm39)	V536A	probably damaging	Het
Pcdha6	T	A	18: 37,101,189 (GRCm39)	N127K	probably damaging	Het
Prps1l1	T	A	12: 35,035,679 (GRCm39)	C265S	probably benign	Het
Prune2	A	G	19: 17,097,261 (GRCm39)	S922G	probably benign	Het
Qpctl	A	T	7: 18,883,055 (GRCm39)	M19K	probably benign	Het
Rad51	C	T	2: 118,964,599 (GRCm39)	T230I	possibly damaging	Het
Rad9b	A	G	5: 122,472,341 (GRCm39)	F246L	possibly damaging	Het
Rarb	A	T	14: 16,508,932 (GRCm38)		probably null	Het
Sdcbp2	T	C	2: 151,429,321 (GRCm39)	S214P	possibly damaging	Het
Slc22a1	T	A	17: 12,875,892 (GRCm39)	M441L	probably benign	Het
Slc35f1	G	A	10: 52,938,637 (GRCm39)	V190I	probably benign	Het
Spon1	A	T	7: 113,629,475 (GRCm39)	Q373L	possibly damaging	Het
Ssbp2	T	A	13: 91,842,122 (GRCm39)		probably null	Het
Sult1e1	T	A	5: 87,726,512 (GRCm39)	R201*	probably null	Het
Traj32	T	A	14: 54,423,606 (GRCm39)	L16Q		Het
Ttc16	T	C	2: 32,664,437 (GRCm39)	I67V	probably null	Het
Ttn	T	A	2: 76,556,899 (GRCm39)	K30035N	probably damaging	Het
Ttn	T	A	2: 76,776,473 (GRCm39)	Y1607F	unknown	Het
Usp16	G	A	16: 87,268,977 (GRCm39)	R290H	probably benign	Het
Utp3	G	C	5: 88,702,376 (GRCm39)		probably benign	Het
Xpnpep3	A	G	15: 81,298,735 (GRCm39)	H56R	probably damaging	Het
Zfp592	G	T	7: 80,674,070 (GRCm39)	D345Y	probably damaging	Het
Zfp931	A	T	2: 177,709,824 (GRCm39)	Y187*	probably null	Het

Other mutations in Ntsr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Ntsr1	APN	2	180,184,335 (GRCm39)	missense	probably damaging	0.99
IGL01765:Ntsr1	APN	2	180,180,510 (GRCm39)	missense	possibly damaging	0.56
IGL02137:Ntsr1	APN	2	180,180,628 (GRCm39)	critical splice donor site	probably null
IGL02321:Ntsr1	APN	2	180,180,627 (GRCm39)	critical splice donor site	probably null
IGL03349:Ntsr1	APN	2	180,142,295 (GRCm39)	missense	probably benign
R0482:Ntsr1	UTSW	2	180,142,849 (GRCm39)	missense	possibly damaging	0.54
R0542:Ntsr1	UTSW	2	180,184,374 (GRCm39)	missense	probably damaging	1.00
R1081:Ntsr1	UTSW	2	180,180,549 (GRCm39)	missense	probably benign	0.14
R1241:Ntsr1	UTSW	2	180,142,394 (GRCm39)	missense	probably damaging	1.00
R1540:Ntsr1	UTSW	2	180,184,440 (GRCm39)	missense	probably damaging	0.99
R3718:Ntsr1	UTSW	2	180,184,499 (GRCm39)	missense	probably benign	0.00
R4206:Ntsr1	UTSW	2	180,142,545 (GRCm39)	missense	probably damaging	1.00
R5481:Ntsr1	UTSW	2	180,183,313 (GRCm39)	missense	possibly damaging	0.79
R5703:Ntsr1	UTSW	2	180,142,226 (GRCm39)	missense	probably damaging	0.98
R5975:Ntsr1	UTSW	2	180,142,581 (GRCm39)	missense	probably damaging	1.00
R6643:Ntsr1	UTSW	2	180,142,719 (GRCm39)	missense	probably damaging	1.00
R6754:Ntsr1	UTSW	2	180,184,476 (GRCm39)	missense	probably benign	0.00
R7316:Ntsr1	UTSW	2	180,142,545 (GRCm39)	missense	probably damaging	1.00
R7765:Ntsr1	UTSW	2	180,180,610 (GRCm39)	missense	probably damaging	0.99
R7822:Ntsr1	UTSW	2	180,180,483 (GRCm39)	missense	probably damaging	1.00
R8087:Ntsr1	UTSW	2	180,141,965 (GRCm39)	unclassified	probably benign
R8555:Ntsr1	UTSW	2	180,180,470 (GRCm39)	missense	probably benign	0.08
R9447:Ntsr1	UTSW	2	180,180,540 (GRCm39)	missense	probably benign	0.10
R9628:Ntsr1	UTSW	2	180,183,274 (GRCm39)	missense	probably damaging	1.00
R9629:Ntsr1	UTSW	2	180,183,274 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGTGCATTACCACCTGGG -3'
(R):5'- TACCTGGATGACGACCTTGAC -3'

Sequencing Primer
(F):5'- TAGCCTGGCACTGTCTGAC -3'
(R):5'- TGACGGTGGCTGTGTCCAC -3'

Posted On

2019-06-26