Mutagenetix > Incidental Mutation

Incidental Mutation 'R5975:Ntsr1'

471667

Institutional Source

Beutler Lab

Gene Symbol

Ntsr1

Ensembl Gene

ENSMUSG00000027568

Gene Name

neurotensin receptor 1

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

R5975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

180141769-180186772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 180142581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 124 (L124Q)

Ref Sequence

ENSEMBL: ENSMUSP00000127548 (fasta)

Gene Model

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

AlphaFold

O88319

Predicted Effect

probably damaging
Transcript: ENSMUST00000029084
AA Change: L124Q

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

SMART Domains

Protein: ENSMUSP00000029084
Gene: ENSMUSG00000027568
AA Change: L124Q

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: L124Q

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

SMART Domains

Protein: ENSMUSP00000127548
Gene: ENSMUSG00000027568
AA Change: L124Q

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

Meta Mutation Damage Score

0.8999

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (80/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	T	C	7: 136,989,021 (GRCm39)		probably benign	Het
Abhd14a	A	T	9: 106,321,150 (GRCm39)		probably null	Het
Actn2	T	C	13: 12,355,378 (GRCm39)	N2D	probably benign	Het
Adcy9	T	C	16: 4,129,431 (GRCm39)	E722G	probably damaging	Het
Alox12	C	A	11: 70,133,609 (GRCm39)	V572L	possibly damaging	Het
Ankrd11	T	C	8: 123,616,488 (GRCm39)	I2434V	possibly damaging	Het
Anks1	T	A	17: 28,210,421 (GRCm39)		probably null	Het
Bltp1	C	T	3: 37,023,370 (GRCm39)	T2233I	possibly damaging	Het
Bpifa3	T	A	2: 153,978,241 (GRCm39)	S148T	probably damaging	Het
Bptf	C	T	11: 106,926,690 (GRCm39)		probably benign	Het
Cabin1	A	T	10: 75,493,673 (GRCm39)	L1655H	probably damaging	Het
Ccdc13	G	T	9: 121,656,301 (GRCm39)	Q171K	probably benign	Het
Ccdc33	T	A	9: 58,024,761 (GRCm39)	Q155L	possibly damaging	Het
Cckbr	G	A	7: 105,119,826 (GRCm39)	G280E	probably benign	Het
Cdk11b	G	A	4: 155,732,697 (GRCm39)		probably benign	Het
Celsr1	G	T	15: 85,803,239 (GRCm39)		probably null	Het
Cenpj	A	T	14: 56,801,523 (GRCm39)	I150N	possibly damaging	Het
Cep135	C	A	5: 76,788,737 (GRCm39)	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,074,364 (GRCm39)	H224N	probably damaging	Het
Cul5	T	C	9: 53,534,093 (GRCm39)	R680G	probably damaging	Het
Dhx58	C	A	11: 100,593,035 (GRCm39)	R224L	probably damaging	Het
Dlx1	C	A	2: 71,361,353 (GRCm39)	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,428 (GRCm39)	D279A	probably damaging	Het
Dnai4	G	A	4: 102,906,786 (GRCm39)	P676S	probably benign	Het
Efcab3	A	G	11: 104,578,375 (GRCm39)		probably benign	Het
Enpp3	A	G	10: 24,650,740 (GRCm39)	W799R	probably benign	Het
Ercc5	A	G	1: 44,212,566 (GRCm39)	T675A	probably benign	Het
Farsa	T	A	8: 85,591,061 (GRCm39)		probably null	Het
Fbxw15	A	T	9: 109,384,320 (GRCm39)	V397D	probably damaging	Het
Fcrl5	G	A	3: 87,349,410 (GRCm39)	V62I	probably benign	Het
Gart	A	G	16: 91,421,224 (GRCm39)	S815P	probably damaging	Het
Glrx5	A	G	12: 105,006,582 (GRCm39)	N111S	possibly damaging	Het
Gm10845	A	G	14: 80,100,614 (GRCm39)		noncoding transcript	Het
Gm9925	T	A	18: 74,198,587 (GRCm39)		probably benign	Het
Gsdme	T	C	6: 50,204,339 (GRCm39)	N206S	probably benign	Het
Helz2	T	C	2: 180,872,843 (GRCm39)	S2459G	probably benign	Het
Hnrnpul1	A	G	7: 25,453,784 (GRCm39)	S93P	possibly damaging	Het
Ints2	A	T	11: 86,117,574 (GRCm39)	I716N	possibly damaging	Het
Lmnb2	G	A	10: 80,740,962 (GRCm39)	Q248*	probably null	Het
Map3k7cl	A	G	16: 87,367,209 (GRCm39)	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,768,466 (GRCm39)	I255N	probably benign	Het
Myh6	A	G	14: 55,187,965 (GRCm39)	I1163T	probably benign	Het
Nphs1	A	T	7: 30,165,540 (GRCm39)	T636S	possibly damaging	Het
Obscn	C	T	11: 59,013,445 (GRCm39)		probably null	Het
P4ha2	G	A	11: 54,017,238 (GRCm39)		probably null	Het
Pcdha9	T	A	18: 37,132,164 (GRCm39)	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,389,384 (GRCm39)	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,493,983 (GRCm39)	V106A	probably benign	Het
Plekhm1	A	T	11: 103,267,517 (GRCm39)	V818E	possibly damaging	Het
Pprc1	T	G	19: 46,053,809 (GRCm39)		probably benign	Het
Prb1c	A	G	6: 132,339,036 (GRCm39)	S61P	unknown	Het
Prmt9	T	C	8: 78,287,647 (GRCm39)		probably benign	Het
Rab26	T	C	17: 24,749,373 (GRCm39)	N193D	possibly damaging	Het
Rnf111	A	G	9: 70,336,862 (GRCm39)	S942P	probably damaging	Het
Scgb2b18	T	C	7: 32,872,650 (GRCm39)	T52A	probably damaging	Het
Syt3	C	T	7: 44,042,187 (GRCm39)	Q349*	probably null	Het
Tas2r107	T	C	6: 131,636,743 (GRCm39)	N102S	probably benign	Het
Tas2r126	T	A	6: 42,411,934 (GRCm39)	Y156N	possibly damaging	Het
Tcaf2	A	T	6: 42,619,712 (GRCm39)	I105N	probably benign	Het
Tet1	A	C	10: 62,715,552 (GRCm39)	M81R	probably benign	Het
Togaram2	T	C	17: 72,036,200 (GRCm39)	Y897H	probably damaging	Het
Trerf1	A	T	17: 47,625,197 (GRCm39)		noncoding transcript	Het
Ttn	G	A	2: 76,591,579 (GRCm39)	T12703I	probably damaging	Het
Unc79	A	G	12: 103,091,885 (GRCm39)	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,633,419 (GRCm39)	T372I	possibly damaging	Het
Wdr24	T	C	17: 26,046,102 (GRCm39)	S476P	probably benign	Het
Zbtb1	T	C	12: 76,433,049 (GRCm39)	I345T	possibly damaging	Het
Zcrb1	T	A	15: 93,293,496 (GRCm39)	I29L	probably benign	Het
Zfp341	T	A	2: 154,472,361 (GRCm39)	C315S	probably damaging	Het
Zfp623	C	A	15: 75,820,012 (GRCm39)	R323S	probably benign	Het
Zfp831	T	A	2: 174,485,885 (GRCm39)	Y187N	possibly damaging	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
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
R7295:Ntsr1	UTSW	2	180,142,725 (GRCm39)	missense	probably damaging	1.00
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'- ACCTGGACGTGAACACTGAC -3'
(R):5'- GCACTGATGAATTTCTTGGTGC -3'

Sequencing Primer
(F):5'- ATTCCAAGGTGCTGGTGACC -3'
(R):5'- ATGAATTTCTTGGTGCGGCTGC -3'

Posted On

2017-03-31