Incidental Mutation 'IGL01088:Ntsr1'
| ID |
50468 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.092)
|
| Stock # |
IGL01088
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
180141769-180186772 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 180184335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 346
(F346S)
|
| 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: F346S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029084
Gene: ENSMUSG00000027568
AA Change: F346S
| 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: F346S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127548
Gene: ENSMUSG00000027568
AA Change: F346S
| 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 |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
C |
T |
10: 89,561,703 (GRCm39) |
V148I |
probably damaging |
Het |
| Aspn |
G |
T |
13: 49,720,029 (GRCm39) |
K348N |
probably benign |
Het |
| C1qtnf9 |
T |
C |
14: 61,017,205 (GRCm39) |
V245A |
probably benign |
Het |
| Cfhr4 |
T |
C |
1: 139,625,823 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
T |
C |
6: 125,099,431 (GRCm39) |
|
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,390,381 (GRCm39) |
C187S |
probably damaging |
Het |
| Dcxr |
T |
C |
11: 120,616,993 (GRCm39) |
I123M |
possibly damaging |
Het |
| Fstl1 |
T |
C |
16: 37,647,175 (GRCm39) |
Y182H |
probably damaging |
Het |
| Ghrhr |
T |
C |
6: 55,356,178 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
T |
C |
11: 97,228,627 (GRCm39) |
E1176G |
probably damaging |
Het |
| H2-T22 |
A |
G |
17: 36,352,811 (GRCm39) |
S99P |
probably damaging |
Het |
| Igkv4-79 |
T |
A |
6: 69,020,110 (GRCm39) |
K68N |
probably damaging |
Het |
| Kpna6 |
C |
T |
4: 129,549,276 (GRCm39) |
V169I |
probably damaging |
Het |
| Krit1 |
G |
T |
5: 3,862,844 (GRCm39) |
V278F |
probably damaging |
Het |
| Mrpl4 |
T |
C |
9: 20,914,627 (GRCm39) |
S68P |
probably damaging |
Het |
| Mylk3 |
A |
C |
8: 86,078,586 (GRCm39) |
|
probably null |
Het |
| Nfasc |
A |
T |
1: 132,570,514 (GRCm39) |
|
probably benign |
Het |
| Or10ak11 |
A |
G |
4: 118,686,989 (GRCm39) |
V216A |
probably benign |
Het |
| Or5b107 |
T |
C |
19: 13,142,735 (GRCm39) |
M119T |
probably damaging |
Het |
| Phox2a |
T |
C |
7: 101,470,942 (GRCm39) |
F145L |
probably damaging |
Het |
| Rbm7 |
A |
G |
9: 48,402,149 (GRCm39) |
V146A |
probably damaging |
Het |
| Sall3 |
A |
T |
18: 81,016,447 (GRCm39) |
Y494N |
probably damaging |
Het |
| Ssbp1 |
T |
A |
6: 40,455,004 (GRCm39) |
|
probably benign |
Het |
| Stard7 |
T |
C |
2: 127,112,746 (GRCm39) |
L4P |
probably damaging |
Het |
| Stk-ps2 |
A |
T |
1: 46,069,010 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem67 |
G |
A |
4: 12,063,126 (GRCm39) |
R507C |
probably damaging |
Het |
| Unc13c |
A |
T |
9: 73,839,563 (GRCm39) |
D429E |
possibly damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,985,356 (GRCm39) |
|
probably null |
Het |
| Vmn1r171 |
T |
C |
7: 23,332,252 (GRCm39) |
V159A |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,031,159 (GRCm39) |
E927G |
probably benign |
Het |
| Zfp820 |
T |
A |
17: 22,040,162 (GRCm39) |
K16* |
probably null |
Het |
| Zgrf1 |
T |
C |
3: 127,381,790 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ntsr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation