Incidental Mutation 'R2323:Npsr1'
| ID |
244810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npsr1
|
| Ensembl Gene |
ENSMUSG00000043659 |
| Gene Name |
neuropeptide S receptor 1 |
| Synonyms |
Gpr154, 9330128H10Rik, VRR1, PGR14 |
| MMRRC Submission |
040314-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R2323 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
24009292-24227694 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24211732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 240
(K240E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059650]
[ENSMUST00000154644]
|
| AlphaFold |
Q8BZP8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059650
AA Change: K240E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000056432
Gene: ENSMUSG00000043659
AA Change: K240E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
66 |
330 |
1.4e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154337
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154644
AA Change: K87E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115126
Gene: ENSMUSG00000043659
AA Change: K87E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
2 |
177 |
2.7e-27 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the vasopressin/oxytocin subfamily of G protein-coupled receptors. The encoded membrane protein acts as a receptor for neuropeptide S and affects a variety of cellular processes through its signaling. Increased expression of this gene in ciliated cells of the respiratory epithelium and in bronchial smooth muscle cells is associated with asthma. Polymorphisms in this gene have also been associated with asthma susceptibility, panic disorders, inflammatory bowel disease, and rheumatoid arthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased airway resistance when treated with high concentrations of U-46619. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
G |
T |
2: 25,335,187 (GRCm39) |
M2008I |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,743,298 (GRCm39) |
S68P |
probably damaging |
Het |
| Albfm1 |
T |
A |
5: 90,732,711 (GRCm39) |
Y507* |
probably null |
Het |
| Anks3 |
T |
C |
16: 4,768,634 (GRCm39) |
|
probably null |
Het |
| Asap2 |
T |
C |
12: 21,253,969 (GRCm39) |
I160T |
probably damaging |
Het |
| Asb15 |
T |
A |
6: 24,556,600 (GRCm39) |
F32I |
probably benign |
Het |
| Catip |
A |
T |
1: 74,402,437 (GRCm39) |
M103L |
probably benign |
Het |
| Cela2a |
G |
C |
4: 141,553,390 (GRCm39) |
|
probably benign |
Het |
| Crebrf |
T |
C |
17: 26,982,581 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,819,064 (GRCm39) |
M450T |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,267,518 (GRCm39) |
S5165P |
possibly damaging |
Het |
| Esrp2 |
T |
A |
8: 106,860,934 (GRCm39) |
D196V |
probably benign |
Het |
| Hmox2 |
A |
T |
16: 4,583,720 (GRCm39) |
K263* |
probably null |
Het |
| Ints10 |
A |
G |
8: 69,271,997 (GRCm39) |
H566R |
probably benign |
Het |
| Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
| Liph |
A |
G |
16: 21,802,754 (GRCm39) |
V105A |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,286,040 (GRCm39) |
Y941* |
probably null |
Het |
| Myo7b |
T |
C |
18: 32,104,398 (GRCm39) |
E1450G |
probably damaging |
Het |
| Myt1 |
G |
T |
2: 181,448,350 (GRCm39) |
A594S |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 54,115,129 (GRCm39) |
Y666N |
probably damaging |
Het |
| Or52h7 |
T |
C |
7: 104,213,826 (GRCm39) |
F133L |
probably benign |
Het |
| Rtkn2 |
A |
G |
10: 67,837,764 (GRCm39) |
I102M |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,316,101 (GRCm39) |
F58L |
probably damaging |
Het |
| Snrpc |
T |
G |
17: 28,066,948 (GRCm39) |
M91R |
unknown |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,212 (GRCm39) |
K205R |
possibly damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tnfrsf21 |
C |
A |
17: 43,396,420 (GRCm39) |
S568* |
probably null |
Het |
| Tulp1 |
C |
T |
17: 28,581,456 (GRCm39) |
G239D |
probably damaging |
Het |
| Vmn1r234 |
T |
C |
17: 21,449,965 (GRCm39) |
I293T |
probably benign |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,842 (GRCm39) |
K116E |
probably damaging |
Het |
| Vmn2r98 |
T |
A |
17: 19,286,081 (GRCm39) |
I193K |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,159,307 (GRCm39) |
S575T |
probably damaging |
Het |
| Zfp558 |
A |
T |
9: 18,380,573 (GRCm39) |
|
probably null |
Het |
| Zscan18 |
T |
C |
7: 12,509,386 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Npsr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00793:Npsr1
|
APN |
9 |
24,165,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02505:Npsr1
|
APN |
9 |
24,009,578 (GRCm39) |
missense |
probably benign |
|
|
IGL03306:Npsr1
|
APN |
9 |
24,224,535 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL03350:Npsr1
|
APN |
9 |
24,009,605 (GRCm39) |
missense |
probably benign |
|
|
R0057:Npsr1
|
UTSW |
9 |
24,211,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0385:Npsr1
|
UTSW |
9 |
24,224,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1432:Npsr1
|
UTSW |
9 |
24,221,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2033:Npsr1
|
UTSW |
9 |
24,224,648 (GRCm39) |
missense |
probably benign |
|
|
R2851:Npsr1
|
UTSW |
9 |
24,221,301 (GRCm39) |
splice site |
probably benign |
|
|
R2852:Npsr1
|
UTSW |
9 |
24,221,301 (GRCm39) |
splice site |
probably benign |
|
|
R4088:Npsr1
|
UTSW |
9 |
24,225,065 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4757:Npsr1
|
UTSW |
9 |
24,046,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4812:Npsr1
|
UTSW |
9 |
24,201,252 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5175:Npsr1
|
UTSW |
9 |
24,046,111 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5475:Npsr1
|
UTSW |
9 |
24,211,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5568:Npsr1
|
UTSW |
9 |
24,224,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5722:Npsr1
|
UTSW |
9 |
24,225,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6778:Npsr1
|
UTSW |
9 |
24,165,914 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6811:Npsr1
|
UTSW |
9 |
24,046,105 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6931:Npsr1
|
UTSW |
9 |
24,201,293 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7356:Npsr1
|
UTSW |
9 |
24,009,557 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7569:Npsr1
|
UTSW |
9 |
24,225,026 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7908:Npsr1
|
UTSW |
9 |
24,201,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8287:Npsr1
|
UTSW |
9 |
24,201,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8325:Npsr1
|
UTSW |
9 |
24,198,118 (GRCm39) |
start gained |
probably benign |
|
|
R8392:Npsr1
|
UTSW |
9 |
24,221,377 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8396:Npsr1
|
UTSW |
9 |
24,221,377 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8946:Npsr1
|
UTSW |
9 |
24,224,525 (GRCm39) |
missense |
probably benign |
|
|
R9277:Npsr1
|
UTSW |
9 |
24,224,493 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9744:Npsr1
|
UTSW |
9 |
24,201,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGTCAAGGATGGTTGAG -3'
(R):5'- CTCTCTCAGCTTTCAGGGAG -3'
Sequencing Primer
(F):5'- CAAGGATGGTTGAGATCCCTCTC -3'
(R):5'- TTGCAGGAGATAGGTTAGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation