Incidental Mutation 'R4017:Npr1'
| ID |
311979 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npr1
|
| Ensembl Gene |
ENSMUSG00000027931 |
| Gene Name |
natriuretic peptide receptor 1 |
| Synonyms |
guanylyl cyclase-A, NPRA, NPR-A, GC-A |
| MMRRC Submission |
041611-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R4017 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
90357898-90373173 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90363539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 828
(E828G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029540]
|
| AlphaFold |
P18293 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029540
AA Change: E828G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029540
Gene: ENSMUSG00000027931
AA Change: E828G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
50 |
410 |
4.7e-54 |
PFAM |
|
low complexity region
|
468 |
488 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
538 |
797 |
1.2e-39 |
PFAM |
|
Pfam:Pkinase
|
543 |
796 |
8.7e-31 |
PFAM |
|
CYCc
|
836 |
1030 |
5.04e-112 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124760
|
| SMART Domains |
Protein: ENSMUSP00000118023
Gene: ENSMUSG00000027931
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3A3K|B
|
2 |
20 |
1e-8 |
PDB |
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134250
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142243
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146991
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152510
|
| Meta Mutation Damage Score |
0.2832 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface receptors with a similar topographic structure: an extracellular ligand-binding domain, a single membrane-spanning domain, and an intracellular region that contains a protein kinase-like domain and a cyclase catalytic domain. GC-A and GC-B function as receptors for natriuretic peptides; they are also referred to as atrial natriuretic peptide receptor A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protein with only the ligand-binding transmembrane and 37-amino acid cytoplasmic domains. NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM, May 2009]
PHENOTYPE: Homozygous inactivation of this gene can lead to hypertension, cardiac hypertrophy, lethal vascular events, congestive heart failure in response to volume overload, reduced serum testosterone levels, altered steroidogenesis, and reduced myocardial PMN infiltration and infarct size after I/R injury. [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 |
|---|
| Actn3 |
G |
T |
19: 4,917,574 (GRCm39) |
T423N |
possibly damaging |
Het |
| Apold1 |
A |
G |
6: 134,960,869 (GRCm39) |
I108V |
probably benign |
Het |
| Arhgap21 |
G |
T |
2: 20,896,915 (GRCm39) |
F121L |
probably benign |
Het |
| BC004004 |
T |
C |
17: 29,517,706 (GRCm39) |
S307P |
probably damaging |
Het |
| Cpeb4 |
A |
G |
11: 31,874,671 (GRCm39) |
D484G |
probably damaging |
Het |
| Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
| Dnm2 |
A |
G |
9: 21,405,900 (GRCm39) |
Y553C |
probably damaging |
Het |
| Dync1h1 |
G |
T |
12: 110,609,624 (GRCm39) |
R2802I |
probably damaging |
Het |
| Eif2a |
T |
A |
3: 58,452,776 (GRCm39) |
M209K |
probably damaging |
Het |
| Epb41 |
A |
T |
4: 131,709,756 (GRCm39) |
|
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,400,813 (GRCm39) |
K1071E |
probably benign |
Het |
| Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,371,067 (GRCm39) |
Y504N |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 93,004,014 (GRCm39) |
D156G |
probably damaging |
Het |
| Klhl10 |
G |
A |
11: 100,336,500 (GRCm39) |
M162I |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,692,996 (GRCm39) |
F3401L |
possibly damaging |
Het |
| Lrp6 |
G |
T |
6: 134,497,513 (GRCm39) |
R165S |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,417,367 (GRCm39) |
V3438M |
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,468,182 (GRCm39) |
R479G |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 59,023,448 (GRCm39) |
F643S |
probably damaging |
Het |
| Or11h23 |
A |
T |
14: 50,948,333 (GRCm39) |
D182V |
probably benign |
Het |
| Or12e1 |
A |
G |
2: 87,022,846 (GRCm39) |
S272G |
probably benign |
Het |
| Pcdhga8 |
T |
C |
18: 37,948,791 (GRCm39) |
V69A |
probably damaging |
Het |
| Ppp6r1 |
C |
A |
7: 4,636,743 (GRCm39) |
C688F |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rnf157 |
A |
T |
11: 116,250,067 (GRCm39) |
|
probably null |
Het |
| Saxo1 |
A |
T |
4: 86,476,233 (GRCm39) |
I7N |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,572,329 (GRCm39) |
I214N |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Suz12 |
G |
T |
11: 79,904,292 (GRCm39) |
V211F |
probably damaging |
Het |
| Trim9 |
G |
A |
12: 70,393,126 (GRCm39) |
H273Y |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,263,845 (GRCm39) |
N1062D |
possibly damaging |
Het |
| Wdr70 |
A |
T |
15: 8,108,698 (GRCm39) |
C149* |
probably null |
Het |
| Zfp940 |
T |
C |
7: 29,545,359 (GRCm39) |
I183V |
probably benign |
Het |
|
| Other mutations in Npr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01077:Npr1
|
APN |
3 |
90,365,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01432:Npr1
|
APN |
3 |
90,370,543 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02106:Npr1
|
APN |
3 |
90,372,165 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03310:Npr1
|
APN |
3 |
90,363,298 (GRCm39) |
missense |
probably benign |
0.30 |
|
PIT4581001:Npr1
|
UTSW |
3 |
90,369,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Npr1
|
UTSW |
3 |
90,362,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0137:Npr1
|
UTSW |
3 |
90,363,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0384:Npr1
|
UTSW |
3 |
90,372,474 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0656:Npr1
|
UTSW |
3 |
90,368,676 (GRCm39) |
missense |
probably benign |
|
|
R0941:Npr1
|
UTSW |
3 |
90,368,716 (GRCm39) |
missense |
probably benign |
|
|
R0961:Npr1
|
UTSW |
3 |
90,366,028 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1172:Npr1
|
UTSW |
3 |
90,368,689 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1747:Npr1
|
UTSW |
3 |
90,365,976 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1763:Npr1
|
UTSW |
3 |
90,366,644 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1900:Npr1
|
UTSW |
3 |
90,369,495 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3807:Npr1
|
UTSW |
3 |
90,366,033 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4437:Npr1
|
UTSW |
3 |
90,363,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4900:Npr1
|
UTSW |
3 |
90,363,272 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5265:Npr1
|
UTSW |
3 |
90,364,309 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5343:Npr1
|
UTSW |
3 |
90,365,515 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5590:Npr1
|
UTSW |
3 |
90,362,149 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5868:Npr1
|
UTSW |
3 |
90,366,800 (GRCm39) |
intron |
probably benign |
|
|
R6782:Npr1
|
UTSW |
3 |
90,363,560 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6828:Npr1
|
UTSW |
3 |
90,372,120 (GRCm39) |
missense |
probably benign |
|
|
R6903:Npr1
|
UTSW |
3 |
90,362,452 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7592:Npr1
|
UTSW |
3 |
90,372,323 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7841:Npr1
|
UTSW |
3 |
90,362,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8202:Npr1
|
UTSW |
3 |
90,368,731 (GRCm39) |
missense |
probably benign |
|
|
R8671:Npr1
|
UTSW |
3 |
90,363,464 (GRCm39) |
unclassified |
probably benign |
|
|
R8683:Npr1
|
UTSW |
3 |
90,362,497 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8819:Npr1
|
UTSW |
3 |
90,372,201 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8820:Npr1
|
UTSW |
3 |
90,372,201 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9330:Npr1
|
UTSW |
3 |
90,365,979 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9680:Npr1
|
UTSW |
3 |
90,368,448 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATGCCTCAGCCTGGACTG -3'
(R):5'- GTGCCTGAATAATGTGGGCAC -3'
Sequencing Primer
(F):5'- TCAGCCACAGAGCTGAGG -3'
(R):5'- CTGCCAGGAAGAACCAGTC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation