Incidental Mutation 'IGL01447:Npr2'
ID |
84479 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Npr2
|
Ensembl Gene |
ENSMUSG00000028469 |
Gene Name |
natriuretic peptide receptor 2 |
Synonyms |
pwe, guanylyl cyclase-B, cn |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.748)
|
Stock # |
IGL01447
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
43631935-43651244 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 43640554 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 336
(C336R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030191
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030191]
[ENSMUST00000107874]
|
AlphaFold |
Q6VVW5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030191
AA Change: C336R
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000030191 Gene: ENSMUSG00000028469 AA Change: C336R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
44 |
399 |
1.9e-45 |
PFAM |
Pfam:Pkinase_Tyr
|
518 |
786 |
4.7e-39 |
PFAM |
Pfam:Pkinase
|
535 |
785 |
1.2e-32 |
PFAM |
CYCc
|
825 |
1019 |
3.28e-111 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107874
AA Change: C336R
PolyPhen 2
Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103506 Gene: ENSMUSG00000028469 AA Change: C336R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
44 |
399 |
5.7e-56 |
PFAM |
Pfam:Pkinase_Tyr
|
518 |
786 |
4.1e-39 |
PFAM |
Pfam:Pkinase
|
533 |
785 |
3.8e-34 |
PFAM |
CYCc
|
825 |
989 |
4.37e-57 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123351
|
SMART Domains |
Protein: ENSMUSP00000117761 Gene: ENSMUSG00000028469
Domain | Start | End | E-Value | Type |
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
71 |
173 |
1.3e-12 |
PFAM |
Pfam:Pkinase
|
85 |
170 |
1.2e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123883
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128549
|
SMART Domains |
Protein: ENSMUSP00000114385 Gene: ENSMUSG00000028469
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
84 |
352 |
1e-39 |
PFAM |
Pfam:Pkinase
|
101 |
351 |
2.6e-33 |
PFAM |
CYCc
|
391 |
585 |
3.28e-111 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137535
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144418
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145817
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding domain, a single membrane-spanning region, and intracellularly a protein kinase homology domain, a helical hinge region involved in oligomerization, and a carboxyl-terminal guanylyl cyclase catalytic domain. The protein is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. Mutations in this gene are the cause of acromesomelic dysplasia Maroteaux type. [provided by RefSeq, Jul 2008] PHENOTYPE: Mutations in this gene result in skeletal abnormalities, malocclusion, and reduced viability. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apbb1ip |
T |
G |
2: 22,743,194 (GRCm39) |
I342S |
probably damaging |
Het |
Armh4 |
A |
T |
14: 50,005,923 (GRCm39) |
S591T |
probably damaging |
Het |
Atp6v1e1 |
T |
C |
6: 120,772,654 (GRCm39) |
|
probably benign |
Het |
Brwd1 |
A |
T |
16: 95,848,579 (GRCm39) |
C533* |
probably null |
Het |
Cacna2d4 |
A |
G |
6: 119,219,865 (GRCm39) |
S212G |
probably damaging |
Het |
Ccn5 |
A |
G |
2: 163,670,942 (GRCm39) |
R150G |
probably damaging |
Het |
Cit |
T |
C |
5: 116,011,902 (GRCm39) |
|
probably benign |
Het |
Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
Cmklr1 |
T |
C |
5: 113,752,282 (GRCm39) |
T240A |
probably benign |
Het |
D630003M21Rik |
T |
C |
2: 158,059,276 (GRCm39) |
D208G |
probably benign |
Het |
Egr3 |
C |
A |
14: 70,316,732 (GRCm39) |
P143Q |
probably damaging |
Het |
Fbxw18 |
T |
A |
9: 109,530,675 (GRCm39) |
S41C |
probably damaging |
Het |
Focad |
T |
A |
4: 88,244,465 (GRCm39) |
I815N |
unknown |
Het |
Heatr5b |
T |
C |
17: 79,137,026 (GRCm39) |
T165A |
probably benign |
Het |
Iqub |
G |
T |
6: 24,505,627 (GRCm39) |
L94I |
probably benign |
Het |
Lrrc32 |
T |
C |
7: 98,147,583 (GRCm39) |
L121P |
probably damaging |
Het |
Mansc1 |
G |
A |
6: 134,594,289 (GRCm39) |
L118F |
probably damaging |
Het |
Mtor |
A |
G |
4: 148,615,214 (GRCm39) |
H1693R |
possibly damaging |
Het |
Muc5b |
A |
G |
7: 141,416,831 (GRCm39) |
Q3259R |
probably benign |
Het |
Nmnat2 |
A |
G |
1: 152,988,189 (GRCm39) |
S273G |
possibly damaging |
Het |
Or10al6 |
C |
T |
17: 38,083,122 (GRCm39) |
L193F |
probably damaging |
Het |
Or1f19 |
A |
G |
16: 3,410,848 (GRCm39) |
N196S |
possibly damaging |
Het |
Or1j11 |
A |
T |
2: 36,311,466 (GRCm39) |
I19F |
probably damaging |
Het |
Or56b1b |
A |
G |
7: 108,164,216 (GRCm39) |
V262A |
possibly damaging |
Het |
Or5aq1 |
A |
T |
2: 86,966,343 (GRCm39) |
Y107* |
probably null |
Het |
Or5d36 |
T |
C |
2: 87,901,468 (GRCm39) |
N86S |
possibly damaging |
Het |
Rad54l2 |
C |
T |
9: 106,579,971 (GRCm39) |
A967T |
probably damaging |
Het |
Rspo1 |
T |
C |
4: 124,898,829 (GRCm39) |
V50A |
possibly damaging |
Het |
Sar1b |
C |
T |
11: 51,682,274 (GRCm39) |
|
probably benign |
Het |
Scamp1 |
C |
T |
13: 94,340,530 (GRCm39) |
A280T |
probably damaging |
Het |
Spcs2 |
A |
G |
7: 99,488,911 (GRCm39) |
I251T |
probably benign |
Het |
Sspo |
G |
T |
6: 48,441,600 (GRCm39) |
|
probably null |
Het |
Tpm2 |
T |
A |
4: 43,518,251 (GRCm39) |
K251* |
probably null |
Het |
Ttn |
A |
G |
2: 76,571,250 (GRCm39) |
S26548P |
probably damaging |
Het |
Ugcg |
T |
G |
4: 59,213,865 (GRCm39) |
V149G |
possibly damaging |
Het |
Unc79 |
T |
A |
12: 103,045,177 (GRCm39) |
N784K |
probably damaging |
Het |
Vit |
A |
G |
17: 78,932,633 (GRCm39) |
D580G |
probably damaging |
Het |
Vmn1r83 |
T |
C |
7: 12,055,424 (GRCm39) |
K211R |
probably benign |
Het |
Zbtb3 |
A |
G |
19: 8,781,680 (GRCm39) |
Y431C |
probably damaging |
Het |
Zfp608 |
T |
C |
18: 55,032,083 (GRCm39) |
D619G |
possibly damaging |
Het |
|
Other mutations in Npr2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00790:Npr2
|
APN |
4 |
43,641,612 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL01116:Npr2
|
APN |
4 |
43,640,248 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02412:Npr2
|
APN |
4 |
43,647,005 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02449:Npr2
|
APN |
4 |
43,646,641 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03120:Npr2
|
APN |
4 |
43,643,133 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03351:Npr2
|
APN |
4 |
43,640,652 (GRCm39) |
missense |
probably benign |
0.36 |
Anterior
|
UTSW |
4 |
43,643,622 (GRCm39) |
missense |
probably damaging |
1.00 |
palmar
|
UTSW |
4 |
43,647,553 (GRCm39) |
missense |
probably damaging |
1.00 |
Plantar
|
UTSW |
4 |
43,640,597 (GRCm39) |
missense |
probably damaging |
1.00 |
Ventral
|
UTSW |
4 |
43,641,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R0066:Npr2
|
UTSW |
4 |
43,632,329 (GRCm39) |
missense |
probably benign |
0.00 |
R0201:Npr2
|
UTSW |
4 |
43,641,617 (GRCm39) |
missense |
probably damaging |
0.98 |
R0309:Npr2
|
UTSW |
4 |
43,640,904 (GRCm39) |
unclassified |
probably benign |
|
R0437:Npr2
|
UTSW |
4 |
43,648,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R0440:Npr2
|
UTSW |
4 |
43,650,315 (GRCm39) |
missense |
probably damaging |
0.99 |
R0464:Npr2
|
UTSW |
4 |
43,640,597 (GRCm39) |
splice site |
probably null |
|
R0511:Npr2
|
UTSW |
4 |
43,632,801 (GRCm39) |
missense |
probably benign |
0.00 |
R0576:Npr2
|
UTSW |
4 |
43,640,947 (GRCm39) |
missense |
probably benign |
0.01 |
R0630:Npr2
|
UTSW |
4 |
43,641,219 (GRCm39) |
missense |
probably benign |
0.18 |
R0690:Npr2
|
UTSW |
4 |
43,646,991 (GRCm39) |
missense |
probably damaging |
0.98 |
R1079:Npr2
|
UTSW |
4 |
43,643,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R1140:Npr2
|
UTSW |
4 |
43,648,353 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1171:Npr2
|
UTSW |
4 |
43,647,260 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1741:Npr2
|
UTSW |
4 |
43,643,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R1848:Npr2
|
UTSW |
4 |
43,632,384 (GRCm39) |
missense |
probably benign |
|
R1864:Npr2
|
UTSW |
4 |
43,641,258 (GRCm39) |
missense |
probably benign |
0.30 |
R1919:Npr2
|
UTSW |
4 |
43,640,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R2054:Npr2
|
UTSW |
4 |
43,646,560 (GRCm39) |
missense |
probably damaging |
0.99 |
R2106:Npr2
|
UTSW |
4 |
43,644,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R2143:Npr2
|
UTSW |
4 |
43,648,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R2306:Npr2
|
UTSW |
4 |
43,633,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R2372:Npr2
|
UTSW |
4 |
43,650,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R2889:Npr2
|
UTSW |
4 |
43,641,600 (GRCm39) |
missense |
probably benign |
0.26 |
R3076:Npr2
|
UTSW |
4 |
43,640,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R3078:Npr2
|
UTSW |
4 |
43,640,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R3711:Npr2
|
UTSW |
4 |
43,643,378 (GRCm39) |
missense |
probably benign |
0.00 |
R3730:Npr2
|
UTSW |
4 |
43,640,999 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4301:Npr2
|
UTSW |
4 |
43,641,332 (GRCm39) |
critical splice donor site |
probably null |
|
R4352:Npr2
|
UTSW |
4 |
43,646,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R4412:Npr2
|
UTSW |
4 |
43,644,150 (GRCm39) |
missense |
probably damaging |
0.99 |
R4583:Npr2
|
UTSW |
4 |
43,633,522 (GRCm39) |
splice site |
probably null |
|
R4593:Npr2
|
UTSW |
4 |
43,647,323 (GRCm39) |
unclassified |
probably benign |
|
R5042:Npr2
|
UTSW |
4 |
43,647,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R5213:Npr2
|
UTSW |
4 |
43,640,673 (GRCm39) |
critical splice donor site |
probably null |
|
R5546:Npr2
|
UTSW |
4 |
43,650,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R5784:Npr2
|
UTSW |
4 |
43,632,801 (GRCm39) |
missense |
probably benign |
0.00 |
R5787:Npr2
|
UTSW |
4 |
43,633,593 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6364:Npr2
|
UTSW |
4 |
43,643,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R6925:Npr2
|
UTSW |
4 |
43,647,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R6949:Npr2
|
UTSW |
4 |
43,640,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R7380:Npr2
|
UTSW |
4 |
43,641,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R7432:Npr2
|
UTSW |
4 |
43,647,155 (GRCm39) |
missense |
probably damaging |
0.96 |
R7500:Npr2
|
UTSW |
4 |
43,650,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R8235:Npr2
|
UTSW |
4 |
43,641,603 (GRCm39) |
missense |
probably benign |
0.09 |
R8292:Npr2
|
UTSW |
4 |
43,643,086 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9310:Npr2
|
UTSW |
4 |
43,632,404 (GRCm39) |
missense |
probably benign |
0.01 |
R9684:Npr2
|
UTSW |
4 |
43,632,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R9746:Npr2
|
UTSW |
4 |
43,633,527 (GRCm39) |
missense |
possibly damaging |
0.64 |
Z1176:Npr2
|
UTSW |
4 |
43,650,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-11 |