Incidental Mutation 'R5703:Ntsr1'
ID |
451782 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ntsr1
|
Ensembl Gene |
ENSMUSG00000027568 |
Gene Name |
neurotensin receptor 1 |
Synonyms |
NTR-1, NTR1, Ntsr1, NT-1R |
MMRRC Submission |
043183-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R5703 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
180141769-180186772 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 180142226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 6
(S6P)
|
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: S6P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000029084 Gene: ENSMUSG00000027568 AA Change: S6P
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: S6P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000127548 Gene: ENSMUSG00000027568 AA Change: S6P
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
A |
1: 25,459,640 (GRCm39) |
N605I |
probably damaging |
Het |
Btd |
C |
T |
14: 31,389,004 (GRCm39) |
R242* |
probably null |
Het |
Cdc42bpg |
A |
G |
19: 6,372,703 (GRCm39) |
D1502G |
possibly damaging |
Het |
Chst2 |
A |
G |
9: 95,286,985 (GRCm39) |
F454L |
probably damaging |
Het |
Col16a1 |
G |
A |
4: 129,947,092 (GRCm39) |
A146T |
probably damaging |
Het |
Cyp3a11 |
A |
T |
5: 145,797,183 (GRCm39) |
S399T |
probably benign |
Het |
Dspp |
C |
T |
5: 104,324,917 (GRCm39) |
H427Y |
possibly damaging |
Het |
Dtx4 |
A |
T |
19: 12,459,574 (GRCm39) |
M410K |
possibly damaging |
Het |
Ecpas |
A |
T |
4: 58,877,171 (GRCm39) |
|
probably null |
Het |
Epb41l2 |
C |
T |
10: 25,317,665 (GRCm39) |
R61W |
probably damaging |
Het |
Gbp6 |
T |
C |
5: 105,421,147 (GRCm39) |
K553E |
probably benign |
Het |
Git1 |
CCG |
C |
11: 77,395,494 (GRCm39) |
|
probably null |
Het |
Gm13199 |
C |
T |
2: 5,867,259 (GRCm39) |
|
probably benign |
Het |
Gramd2a |
G |
A |
9: 59,615,299 (GRCm39) |
G13R |
probably benign |
Het |
Hoxa2 |
G |
T |
6: 52,140,243 (GRCm39) |
Q248K |
probably damaging |
Het |
Hycc1 |
A |
T |
5: 24,185,577 (GRCm39) |
|
probably null |
Het |
Krt33b |
T |
C |
11: 99,916,374 (GRCm39) |
T228A |
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,444,573 (GRCm39) |
E324G |
probably damaging |
Het |
Map3k20 |
A |
G |
2: 72,232,514 (GRCm39) |
N390S |
probably benign |
Het |
Mroh7 |
A |
G |
4: 106,565,757 (GRCm39) |
Y126H |
possibly damaging |
Het |
Muc4 |
G |
A |
16: 32,555,059 (GRCm39) |
W15* |
probably null |
Het |
Ndrg2 |
T |
A |
14: 52,147,579 (GRCm39) |
|
probably null |
Het |
Or5m10 |
T |
C |
2: 85,717,783 (GRCm39) |
I213T |
probably benign |
Het |
Or5p70 |
G |
A |
7: 107,994,707 (GRCm39) |
V127I |
probably benign |
Het |
Pcdhb6 |
A |
T |
18: 37,467,753 (GRCm39) |
T225S |
probably benign |
Het |
Rfng |
C |
A |
11: 120,672,842 (GRCm39) |
V294L |
probably benign |
Het |
Scml4 |
C |
T |
10: 42,741,566 (GRCm39) |
|
probably benign |
Het |
Slc5a2 |
A |
G |
7: 127,869,787 (GRCm39) |
I407V |
possibly damaging |
Het |
Strc |
T |
C |
2: 121,201,295 (GRCm39) |
T1267A |
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,626,341 (GRCm39) |
V566A |
probably damaging |
Het |
Tas1r2 |
T |
C |
4: 139,394,647 (GRCm39) |
S468P |
probably damaging |
Het |
Tenm2 |
T |
A |
11: 35,914,626 (GRCm39) |
T2304S |
probably benign |
Het |
Tirap |
A |
T |
9: 35,100,054 (GRCm39) |
L210Q |
probably damaging |
Het |
Vav3 |
A |
T |
3: 109,248,557 (GRCm39) |
Q68L |
probably benign |
Het |
Vmn2r54 |
C |
T |
7: 12,363,594 (GRCm39) |
S433N |
probably benign |
Het |
Wars1 |
A |
T |
12: 108,841,047 (GRCm39) |
Y244N |
probably damaging |
Het |
Zc3h6 |
A |
G |
2: 128,835,372 (GRCm39) |
|
probably benign |
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 |
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 |
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'- AAGAAGAGTGGATCCCTGAGCC -3'
(R):5'- TATACAGCGGTCACCAGCAC -3'
Sequencing Primer
(F):5'- TCTCGAGCCCCAGAGCTC -3'
(R):5'- CAGCACCTTGGAATAAATGTCAGTG -3'
|
Posted On |
2017-01-03 |