Incidental Mutation 'R1081:Ntsr1'
ID |
152682 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ntsr1
|
Ensembl Gene |
ENSMUSG00000027568 |
Gene Name |
neurotensin receptor 1 |
Synonyms |
NTR-1, NTR1, Ntsr1, NT-1R |
MMRRC Submission |
039167-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R1081 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
180141769-180186772 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 180180549 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 285
(S285N)
|
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: S285N
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000029084 Gene: ENSMUSG00000027568 AA Change: S285N
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: S285N
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000127548 Gene: ENSMUSG00000027568 AA Change: S285N
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: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
A |
G |
6: 83,139,002 (GRCm39) |
E309G |
probably benign |
Het |
Abr |
T |
C |
11: 76,346,441 (GRCm39) |
K448E |
probably damaging |
Het |
Atxn2l |
T |
C |
7: 126,093,384 (GRCm39) |
Y785C |
probably damaging |
Het |
Atxn3 |
T |
G |
12: 101,900,608 (GRCm39) |
D225A |
probably damaging |
Het |
Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
Cntnap5c |
A |
G |
17: 58,612,520 (GRCm39) |
D853G |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 65,975,703 (GRCm39) |
Y1449H |
probably damaging |
Het |
Dsc2 |
T |
G |
18: 20,166,352 (GRCm39) |
T760P |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,005,488 (GRCm39) |
|
probably null |
Het |
Epg5 |
T |
C |
18: 78,002,748 (GRCm39) |
F611L |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 16,286,580 (GRCm39) |
D981G |
possibly damaging |
Het |
Gimap3 |
A |
T |
6: 48,742,086 (GRCm39) |
C281* |
probably null |
Het |
Ids |
T |
C |
X: 69,404,716 (GRCm39) |
D149G |
possibly damaging |
Het |
Inpp4b |
A |
G |
8: 82,795,653 (GRCm39) |
I826V |
probably damaging |
Het |
Kcnrg |
C |
A |
14: 61,845,163 (GRCm39) |
H68N |
possibly damaging |
Het |
Klra6 |
A |
G |
6: 129,999,588 (GRCm39) |
Y127H |
probably damaging |
Het |
Lypd10 |
T |
C |
7: 24,412,967 (GRCm39) |
|
probably null |
Het |
Mepce |
A |
G |
5: 137,782,958 (GRCm39) |
L456P |
probably damaging |
Het |
Mink1 |
T |
C |
11: 70,497,861 (GRCm39) |
L488P |
probably benign |
Het |
Mndal |
T |
A |
1: 173,687,788 (GRCm39) |
E482V |
probably benign |
Het |
Mob1b |
G |
A |
5: 88,901,021 (GRCm39) |
V143I |
probably benign |
Het |
Msh4 |
T |
C |
3: 153,577,995 (GRCm39) |
E433G |
probably benign |
Het |
Myof |
A |
T |
19: 37,974,536 (GRCm39) |
I201N |
probably damaging |
Het |
Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
Or2ak6 |
C |
T |
11: 58,593,324 (GRCm39) |
H266Y |
probably damaging |
Het |
Or4k2 |
A |
G |
14: 50,424,654 (GRCm39) |
S7P |
probably damaging |
Het |
Or51b4 |
T |
A |
7: 103,531,384 (GRCm39) |
H22L |
possibly damaging |
Het |
Or52ab7 |
A |
G |
7: 102,978,245 (GRCm39) |
Y184C |
probably damaging |
Het |
P2rx4 |
A |
G |
5: 122,865,296 (GRCm39) |
E307G |
probably damaging |
Het |
Pcdh15 |
A |
G |
10: 74,286,145 (GRCm39) |
D793G |
probably damaging |
Het |
Rpap1 |
G |
A |
2: 119,601,750 (GRCm39) |
R737W |
probably damaging |
Het |
Rpusd4 |
A |
G |
9: 35,186,384 (GRCm39) |
K307E |
probably benign |
Het |
Shtn1 |
T |
A |
19: 58,963,447 (GRCm39) |
T623S |
probably benign |
Het |
Sntg1 |
A |
G |
1: 8,515,343 (GRCm39) |
C397R |
possibly damaging |
Het |
Stat5a |
T |
C |
11: 100,771,886 (GRCm39) |
F646S |
probably damaging |
Het |
Tacc2 |
A |
G |
7: 130,330,304 (GRCm39) |
E196G |
possibly damaging |
Het |
Tcf25 |
T |
C |
8: 124,108,212 (GRCm39) |
V89A |
probably benign |
Het |
Trim7 |
G |
T |
11: 48,740,532 (GRCm39) |
V210L |
probably damaging |
Het |
Vmn2r57 |
A |
G |
7: 41,077,635 (GRCm39) |
M177T |
possibly damaging |
Het |
Wwc2 |
G |
A |
8: 48,281,799 (GRCm39) |
|
probably benign |
Het |
Zfp28 |
A |
G |
7: 6,392,779 (GRCm39) |
I152V |
possibly damaging |
Het |
Zfp628 |
A |
G |
7: 4,923,182 (GRCm39) |
H468R |
probably damaging |
Het |
Zfp770 |
A |
G |
2: 114,027,608 (GRCm39) |
Y154H |
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 |
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 |
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'- GCTCTGAGCACAAAGGGTGATAGTC -3'
(R):5'- ACGATGCTGAACTTGGACCCAC -3'
Sequencing Primer
(F):5'- AAGGGTGATAGTCCCTCACCTG -3'
(R):5'- TGAACTTGGACCCACATTCC -3'
|
Posted On |
2014-01-29 |