Incidental Mutation 'R3718:Ntsr1'
ID |
258782 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ntsr1
|
Ensembl Gene |
ENSMUSG00000027568 |
Gene Name |
neurotensin receptor 1 |
Synonyms |
NTR-1, NTR1, Ntsr1, NT-1R |
MMRRC Submission |
040710-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R3718 (G1)
|
Quality Score |
151 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
180141769-180186772 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 180184499 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 401
(F401L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127548
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029084]
[ENSMUST00000170448]
|
AlphaFold |
O88319 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029084
AA Change: F401L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000029084 Gene: ENSMUSG00000027568 AA Change: F401L
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 benign
Transcript: ENSMUST00000170448
AA Change: F401L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000127548 Gene: ENSMUSG00000027568 AA Change: F401L
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 |
0.0703 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
97% (36/37) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abra |
T |
C |
15: 41,729,689 (GRCm39) |
D237G |
probably benign |
Het |
Alas2 |
T |
C |
X: 149,343,726 (GRCm39) |
|
probably benign |
Het |
Ano6 |
A |
G |
15: 95,811,260 (GRCm39) |
D120G |
probably damaging |
Het |
Aspm |
T |
C |
1: 139,408,627 (GRCm39) |
Y2505H |
probably benign |
Het |
Aspm |
G |
A |
1: 139,418,165 (GRCm39) |
V2965I |
probably benign |
Het |
Ccna2 |
A |
T |
3: 36,620,387 (GRCm39) |
V285E |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dnajc10 |
A |
G |
2: 80,155,089 (GRCm39) |
|
probably benign |
Het |
Dpp3 |
A |
G |
19: 4,973,093 (GRCm39) |
|
probably null |
Het |
Gng11 |
G |
A |
6: 4,008,078 (GRCm39) |
R47H |
probably benign |
Het |
Hivep1 |
C |
T |
13: 42,311,971 (GRCm39) |
H1404Y |
probably damaging |
Het |
Il18r1 |
A |
G |
1: 40,534,948 (GRCm39) |
E381G |
probably benign |
Het |
Il9 |
G |
A |
13: 56,627,264 (GRCm39) |
T116I |
probably damaging |
Het |
Kcnh1 |
A |
G |
1: 191,921,107 (GRCm39) |
T129A |
probably damaging |
Het |
Mroh7 |
T |
C |
4: 106,561,407 (GRCm39) |
E612G |
probably benign |
Het |
Nav1 |
A |
T |
1: 135,378,368 (GRCm39) |
I1653K |
probably damaging |
Het |
Neb |
T |
C |
2: 52,167,482 (GRCm39) |
E1948G |
probably damaging |
Het |
Nup210 |
A |
T |
6: 90,997,162 (GRCm39) |
D1626E |
probably benign |
Het |
Or10q12 |
A |
G |
19: 13,746,428 (GRCm39) |
R241G |
probably damaging |
Het |
Or4k35 |
A |
G |
2: 111,100,571 (GRCm39) |
V47A |
probably benign |
Het |
Or8g26 |
A |
G |
9: 39,096,361 (GRCm39) |
R293G |
probably damaging |
Het |
Pign |
A |
G |
1: 105,577,006 (GRCm39) |
|
probably null |
Het |
Rad54l2 |
A |
G |
9: 106,570,726 (GRCm39) |
V1198A |
probably benign |
Het |
Sh3tc2 |
T |
C |
18: 62,123,414 (GRCm39) |
V725A |
probably benign |
Het |
Skint10 |
A |
T |
4: 112,603,936 (GRCm39) |
W84R |
probably damaging |
Het |
Slc40a1 |
G |
T |
1: 45,950,151 (GRCm39) |
H434N |
probably benign |
Het |
Trdv2-1 |
T |
C |
14: 54,183,995 (GRCm39) |
Y76H |
probably benign |
Het |
Trim43c |
T |
C |
9: 88,727,030 (GRCm39) |
S286P |
probably benign |
Het |
Ttn |
G |
A |
2: 76,575,558 (GRCm39) |
P25112S |
probably damaging |
Het |
Ubac1 |
C |
T |
2: 25,904,953 (GRCm39) |
R95H |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,802,296 (GRCm39) |
I405T |
probably damaging |
Het |
Zc3hav1l |
G |
T |
6: 38,272,060 (GRCm39) |
S236R |
probably 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 |
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 |
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'- AGGAGTCTAAACATCCTCTCCTCC -3'
(R):5'- CTGGGAAGAAAGAAGCCTCC -3'
Sequencing Primer
(F):5'- CCAACAGGTTCCTCTTCGAC -3'
(R):5'- TCACCGGCATGGCTTAGATG -3'
|
Posted On |
2015-01-23 |