Incidental Mutation 'R6282:Ntsr2'
| ID |
508012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntsr2
|
| Ensembl Gene |
ENSMUSG00000020591 |
| Gene Name |
neurotensin receptor 2 |
| Synonyms |
NTRL, NT2R |
| MMRRC Submission |
044452-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R6282 (G1)
|
| Quality Score |
153.008 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
16703477-16710223 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16708426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 320
(Y320C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111064]
[ENSMUST00000220892]
[ENSMUST00000221049]
[ENSMUST00000221596]
|
| AlphaFold |
P70310 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111064
AA Change: Y320C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106693
Gene: ENSMUSG00000020591
AA Change: Y320C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
49 |
358 |
4.2e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220892
AA Change: T260A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221049
AA Change: T215A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221596
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222957
|
| Meta Mutation Damage Score |
0.4278 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
98% (45/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the G protein-coupled receptor family that activate a phosphatidylinositol-calcium second messenger system. Binding and pharmacological studies demonstrate that this receptor binds neurotensin as well as several other ligands already described for neurotensin NT1 receptor. However, unlike NT1 receptor, this gene recognizes, with high affinity, levocabastine, a histamine H1 receptor antagonist previously shown to compete with neurotensin for low-affinity binding sites in brain. These activities suggest that this receptor may be of physiological importance and that a natural agonist for the receptor may exist. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit abnormal thermal nociception. Mice homozygous for different knock-out allele exhibit increased prepulse inhibition and decreased accoustic startle response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
A |
T |
2: 30,690,781 (GRCm39) |
L185Q |
possibly damaging |
Het |
| Abca6 |
A |
T |
11: 110,099,650 (GRCm39) |
C966S |
probably damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,252,822 (GRCm39) |
I708N |
probably benign |
Het |
| Axin1 |
C |
G |
17: 26,362,011 (GRCm39) |
D118E |
probably damaging |
Het |
| Bace2 |
A |
T |
16: 97,216,297 (GRCm39) |
I297F |
probably damaging |
Het |
| Ccdc30 |
T |
A |
4: 119,181,214 (GRCm39) |
D649V |
probably damaging |
Het |
| Cd180 |
G |
A |
13: 102,830,265 (GRCm39) |
A20T |
possibly damaging |
Het |
| Cdk18 |
T |
C |
1: 132,047,758 (GRCm39) |
D112G |
probably damaging |
Het |
| Cuedc1 |
A |
G |
11: 88,074,228 (GRCm39) |
N254S |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,542,760 (GRCm39) |
H2470R |
probably damaging |
Het |
| Drap1 |
G |
A |
19: 5,474,464 (GRCm39) |
|
probably null |
Het |
| Fbxo5 |
T |
A |
10: 5,751,216 (GRCm39) |
K257M |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm12790 |
A |
G |
4: 101,824,713 (GRCm39) |
V185A |
possibly damaging |
Het |
| Gm7361 |
A |
G |
5: 26,465,411 (GRCm39) |
N136S |
probably benign |
Het |
| Il10ra |
C |
A |
9: 45,171,703 (GRCm39) |
C255F |
probably damaging |
Het |
| Insyn2b |
A |
G |
11: 34,352,819 (GRCm39) |
D287G |
possibly damaging |
Het |
| Itgam |
A |
T |
7: 127,684,114 (GRCm39) |
T340S |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,901,428 (GRCm39) |
N62I |
probably damaging |
Het |
| Ldb2 |
A |
G |
5: 44,690,007 (GRCm39) |
L204P |
probably damaging |
Het |
| Map2k4 |
T |
C |
11: 65,597,842 (GRCm39) |
T90A |
possibly damaging |
Het |
| Mettl3 |
A |
T |
14: 52,535,428 (GRCm39) |
D287E |
probably benign |
Het |
| Mier2 |
A |
G |
10: 79,380,576 (GRCm39) |
F278S |
probably damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,195,937 (GRCm39) |
M609T |
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,448,338 (GRCm39) |
V929D |
probably damaging |
Het |
| Naprt |
A |
T |
15: 75,763,828 (GRCm39) |
M364K |
probably benign |
Het |
| Nod2 |
T |
A |
8: 89,397,088 (GRCm39) |
C833S |
probably benign |
Het |
| Nrip3 |
C |
T |
7: 109,362,686 (GRCm39) |
|
probably null |
Het |
| Or14j8 |
G |
A |
17: 38,263,315 (GRCm39) |
S200F |
possibly damaging |
Het |
| Or4p7 |
C |
A |
2: 88,221,877 (GRCm39) |
C95* |
probably null |
Het |
| Or51h1 |
G |
A |
7: 102,308,854 (GRCm39) |
M275I |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,325,063 (GRCm39) |
|
probably null |
Het |
| Pcdhb3 |
C |
T |
18: 37,434,699 (GRCm39) |
R222C |
probably damaging |
Het |
| Pik3cd |
G |
T |
4: 149,744,200 (GRCm39) |
R184S |
probably benign |
Het |
| Pramel32 |
T |
C |
4: 88,548,291 (GRCm39) |
E38G |
probably damaging |
Het |
| Rad50 |
A |
T |
11: 53,560,597 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
A |
T |
12: 11,507,560 (GRCm39) |
H494L |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,722,863 (GRCm39) |
M762T |
probably damaging |
Het |
| Sars1 |
G |
T |
3: 108,335,590 (GRCm39) |
S338* |
probably null |
Het |
| Usp35 |
T |
C |
7: 96,975,155 (GRCm39) |
E6G |
probably damaging |
Het |
| Vash2 |
T |
C |
1: 190,692,422 (GRCm39) |
Y251C |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wdr20 |
T |
A |
12: 110,763,443 (GRCm39) |
|
probably benign |
Het |
| Wfdc1 |
G |
A |
8: 120,406,146 (GRCm39) |
C87Y |
probably damaging |
Het |
| Zfp985 |
T |
A |
4: 147,667,805 (GRCm39) |
H224Q |
probably benign |
Het |
|
| Other mutations in Ntsr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00482:Ntsr2
|
APN |
12 |
16,709,849 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01973:Ntsr2
|
APN |
12 |
16,706,775 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02202:Ntsr2
|
APN |
12 |
16,703,661 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02493:Ntsr2
|
APN |
12 |
16,708,390 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02837:Ntsr2
|
UTSW |
12 |
16,703,876 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0066:Ntsr2
|
UTSW |
12 |
16,704,120 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0066:Ntsr2
|
UTSW |
12 |
16,704,120 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0381:Ntsr2
|
UTSW |
12 |
16,709,719 (GRCm39) |
nonsense |
probably null |
|
|
R0437:Ntsr2
|
UTSW |
12 |
16,703,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0666:Ntsr2
|
UTSW |
12 |
16,703,981 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0751:Ntsr2
|
UTSW |
12 |
16,704,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1919:Ntsr2
|
UTSW |
12 |
16,704,111 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2190:Ntsr2
|
UTSW |
12 |
16,704,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5323:Ntsr2
|
UTSW |
12 |
16,709,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5358:Ntsr2
|
UTSW |
12 |
16,704,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6358:Ntsr2
|
UTSW |
12 |
16,706,769 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6523:Ntsr2
|
UTSW |
12 |
16,706,697 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6837:Ntsr2
|
UTSW |
12 |
16,709,710 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8396:Ntsr2
|
UTSW |
12 |
16,706,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8418:Ntsr2
|
UTSW |
12 |
16,706,662 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8784:Ntsr2
|
UTSW |
12 |
16,706,852 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF017:Ntsr2
|
UTSW |
12 |
16,709,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0064:Ntsr2
|
UTSW |
12 |
16,706,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ntsr2
|
UTSW |
12 |
16,703,663 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAGGACATGGAAGGTTCG -3'
(R):5'- AGATTTTGAAAGTACAGCCTGAGC -3'
Sequencing Primer
(F):5'- CATCCTTTGGCTCCAGGAAGATG -3'
(R):5'- CTGAGCAGGACCGGATAGACTAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation