Incidental Mutation 'R2379:Npr3'
| ID |
248400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npr3
|
| Ensembl Gene |
ENSMUSG00000022206 |
| Gene Name |
natriuretic peptide receptor 3 |
| Synonyms |
lgj, Nppc receptor, B430320C24Rik, NPR-C, longjohn |
| MMRRC Submission |
040355-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.541)
|
| Stock # |
R2379 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
11839982-11907287 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11883449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 327
(F327L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066529]
[ENSMUST00000228489]
[ENSMUST00000228603]
|
| AlphaFold |
P70180 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066529
AA Change: F327L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000066737
Gene: ENSMUSG00000022206
AA Change: F327L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
29 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
66 |
417 |
1e-59 |
PFAM |
|
transmembrane domain
|
477 |
499 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226139
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228489
AA Change: F73L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228603
AA Change: F327L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.5975 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
93% (37/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of three natriuretic peptide receptors. Natriutetic peptides are small peptides which regulate blood volume and pressure, pulmonary hypertension, and cardiac function as well as some metabolic and growth processes. The product of this gene encodes a natriuretic peptide receptor responsible for clearing circulating and extracellular natriuretic peptides through endocytosis of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous inactivation of this gene leads to partial postnatal lethality, altered blood homeostasis, polyuria, hypovolemia, hypotension, increased bone turnover, skeletal deformities and altered adipose morphology. Spontaneous and ENU-induced mutations cause a skeletal-overgrowth phenotype. [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 |
|---|
| Aff4 |
T |
C |
11: 53,299,305 (GRCm39) |
|
probably benign |
Het |
| Anpep |
T |
C |
7: 79,490,966 (GRCm39) |
T209A |
probably benign |
Het |
| Asb16 |
A |
G |
11: 102,163,357 (GRCm39) |
T116A |
probably benign |
Het |
| Brd10 |
G |
T |
19: 29,696,275 (GRCm39) |
Q1140K |
probably benign |
Het |
| Btc |
A |
T |
5: 91,524,768 (GRCm39) |
|
probably benign |
Het |
| C4b |
T |
C |
17: 34,954,717 (GRCm39) |
D860G |
possibly damaging |
Het |
| Cd177 |
G |
A |
7: 24,457,468 (GRCm39) |
T191I |
possibly damaging |
Het |
| Cngb1 |
A |
G |
8: 95,986,758 (GRCm39) |
L378P |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,490,122 (GRCm39) |
F1697S |
probably damaging |
Het |
| Dop1a |
G |
A |
9: 86,403,138 (GRCm39) |
S1446N |
probably damaging |
Het |
| Fn1 |
T |
A |
1: 71,688,443 (GRCm39) |
K154* |
probably null |
Het |
| Gm10801 |
G |
T |
2: 98,494,185 (GRCm39) |
S109I |
probably benign |
Het |
| Ifi204 |
T |
A |
1: 173,583,559 (GRCm39) |
R220* |
probably null |
Het |
| Limk1 |
A |
G |
5: 134,708,335 (GRCm39) |
|
probably benign |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mms22l |
T |
A |
4: 24,496,929 (GRCm39) |
S8T |
possibly damaging |
Het |
| Mpp7 |
T |
A |
18: 7,403,345 (GRCm39) |
R322* |
probably null |
Het |
| Mycbp2 |
T |
C |
14: 103,412,386 (GRCm39) |
N2529S |
probably benign |
Het |
| Or12j3 |
A |
T |
7: 139,952,748 (GRCm39) |
Y258* |
probably null |
Het |
| Or14c41 |
T |
G |
7: 86,235,400 (GRCm39) |
F306V |
probably benign |
Het |
| Or14c46 |
T |
C |
7: 85,918,857 (GRCm39) |
T47A |
probably damaging |
Het |
| Or51f5 |
A |
T |
7: 102,424,052 (GRCm39) |
H107L |
probably benign |
Het |
| Or5p1 |
T |
C |
7: 107,916,499 (GRCm39) |
S133P |
probably benign |
Het |
| Or6c217 |
A |
T |
10: 129,737,781 (GRCm39) |
V266E |
probably damaging |
Het |
| Or7e177 |
T |
C |
9: 20,211,963 (GRCm39) |
S157P |
possibly damaging |
Het |
| Pld2 |
A |
T |
11: 70,445,140 (GRCm39) |
Y580F |
probably benign |
Het |
| Scart2 |
A |
T |
7: 139,879,682 (GRCm39) |
D990V |
probably benign |
Het |
| Sik3 |
A |
G |
9: 46,066,707 (GRCm39) |
E162G |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,244,238 (GRCm39) |
T266A |
unknown |
Het |
| Tnks1bp1 |
A |
G |
2: 84,894,182 (GRCm39) |
S1370G |
probably benign |
Het |
| Usp28 |
A |
G |
9: 48,914,395 (GRCm39) |
R99G |
probably null |
Het |
| Vmn2r13 |
T |
G |
5: 109,319,644 (GRCm39) |
E445D |
probably benign |
Het |
| Vmn2r27 |
A |
G |
6: 124,201,342 (GRCm39) |
I205T |
possibly damaging |
Het |
|
| Other mutations in Npr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Npr3
|
APN |
15 |
11,895,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01420:Npr3
|
APN |
15 |
11,858,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01599:Npr3
|
APN |
15 |
11,895,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01977:Npr3
|
APN |
15 |
11,858,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
eel
|
UTSW |
15 |
11,858,733 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Electric
|
UTSW |
15 |
11,848,689 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Morray
|
UTSW |
15 |
11,851,536 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0581:Npr3
|
UTSW |
15 |
11,851,536 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0607:Npr3
|
UTSW |
15 |
11,845,368 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1554:Npr3
|
UTSW |
15 |
11,848,649 (GRCm39) |
missense |
probably benign |
|
|
R1779:Npr3
|
UTSW |
15 |
11,851,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Npr3
|
UTSW |
15 |
11,848,665 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1968:Npr3
|
UTSW |
15 |
11,905,055 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2883:Npr3
|
UTSW |
15 |
11,883,410 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3080:Npr3
|
UTSW |
15 |
11,905,235 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3745:Npr3
|
UTSW |
15 |
11,905,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3803:Npr3
|
UTSW |
15 |
11,895,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4166:Npr3
|
UTSW |
15 |
11,848,599 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4411:Npr3
|
UTSW |
15 |
11,905,235 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4412:Npr3
|
UTSW |
15 |
11,905,235 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4667:Npr3
|
UTSW |
15 |
11,905,553 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5209:Npr3
|
UTSW |
15 |
11,848,689 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5742:Npr3
|
UTSW |
15 |
11,883,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6339:Npr3
|
UTSW |
15 |
11,845,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6605:Npr3
|
UTSW |
15 |
11,905,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6890:Npr3
|
UTSW |
15 |
11,883,478 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7009:Npr3
|
UTSW |
15 |
11,905,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7371:Npr3
|
UTSW |
15 |
11,845,376 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7582:Npr3
|
UTSW |
15 |
11,895,768 (GRCm39) |
missense |
probably null |
1.00 |
|
R7743:Npr3
|
UTSW |
15 |
11,905,724 (GRCm39) |
start codon destroyed |
probably null |
0.90 |
|
R7896:Npr3
|
UTSW |
15 |
11,883,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8672:Npr3
|
UTSW |
15 |
11,851,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8840:Npr3
|
UTSW |
15 |
11,905,329 (GRCm39) |
missense |
probably damaging |
0.98 |
|
S24628:Npr3
|
UTSW |
15 |
11,848,649 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCGACACTCAGACTTG -3'
(R):5'- CTGCTGCCAAAGGTACCATG -3'
Sequencing Primer
(F):5'- GACACTCAGACTTGAACTCGG -3'
(R):5'- TACCATGTAGGGACACATTGC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation