Incidental Mutation 'R6925:Npr2'
ID |
541064 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Npr2
|
Ensembl Gene |
ENSMUSG00000028469 |
Gene Name |
natriuretic peptide receptor 2 |
Synonyms |
pwe, guanylyl cyclase-B, cn |
MMRRC Submission |
045043-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.748)
|
Stock # |
R6925 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
43631935-43651244 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 43647553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 819
(R819C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103506
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030191]
[ENSMUST00000084646]
[ENSMUST00000107870]
[ENSMUST00000107874]
|
AlphaFold |
Q6VVW5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030191
AA Change: R819C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030191 Gene: ENSMUSG00000028469 AA Change: R819C
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 |
probably benign
Transcript: ENSMUST00000084646
|
SMART Domains |
Protein: ENSMUSP00000081696 Gene: ENSMUSG00000066196
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
48 |
N/A |
INTRINSIC |
low complexity region
|
121 |
145 |
N/A |
INTRINSIC |
low complexity region
|
148 |
175 |
N/A |
INTRINSIC |
low complexity region
|
230 |
254 |
N/A |
INTRINSIC |
low complexity region
|
303 |
316 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107870
|
SMART Domains |
Protein: ENSMUSP00000103502 Gene: ENSMUSG00000066196
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
48 |
N/A |
INTRINSIC |
low complexity region
|
121 |
145 |
N/A |
INTRINSIC |
low complexity region
|
148 |
175 |
N/A |
INTRINSIC |
low complexity region
|
230 |
254 |
N/A |
INTRINSIC |
low complexity region
|
303 |
316 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107874
AA Change: R819C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103506 Gene: ENSMUSG00000028469 AA Change: R819C
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 |
|
SMART Domains |
Protein: ENSMUSP00000114385 Gene: ENSMUSG00000028469 AA Change: R384C
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 |
probably benign
Transcript: ENSMUST00000149575
|
Meta Mutation Damage Score |
0.6679 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (91/91) |
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: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat1 |
A |
T |
9: 53,503,329 (GRCm39) |
V170E |
probably benign |
Het |
Atp2b2 |
T |
A |
6: 113,737,681 (GRCm39) |
I902F |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,773,594 (GRCm39) |
V1697A |
probably benign |
Het |
Ccdc14 |
T |
A |
16: 34,511,119 (GRCm39) |
F31Y |
probably benign |
Het |
Ccdc17 |
T |
A |
4: 116,455,407 (GRCm39) |
V250E |
probably damaging |
Het |
Cct7 |
A |
G |
6: 85,436,164 (GRCm39) |
N25S |
probably damaging |
Het |
Cdcp3 |
A |
G |
7: 130,824,436 (GRCm39) |
Q177R |
possibly damaging |
Het |
Cep19 |
G |
C |
16: 31,922,760 (GRCm39) |
G9R |
probably damaging |
Het |
Ces5a |
A |
T |
8: 94,249,685 (GRCm39) |
|
probably null |
Het |
Chd1l |
T |
G |
3: 97,490,142 (GRCm39) |
E471A |
probably damaging |
Het |
Chd6 |
A |
G |
2: 160,855,047 (GRCm39) |
I787T |
probably damaging |
Het |
Cntnap5c |
A |
C |
17: 58,702,261 (GRCm39) |
T1194P |
probably benign |
Het |
Col6a3 |
T |
A |
1: 90,743,724 (GRCm39) |
M208L |
probably benign |
Het |
Coro7 |
A |
T |
16: 4,446,538 (GRCm39) |
|
probably null |
Het |
Csrnp2 |
T |
C |
15: 100,379,839 (GRCm39) |
K484R |
probably benign |
Het |
Cyp2c39 |
T |
A |
19: 39,501,639 (GRCm39) |
V64E |
probably damaging |
Het |
Ddr2 |
T |
C |
1: 169,825,701 (GRCm39) |
K300E |
probably benign |
Het |
Ddx56 |
T |
C |
11: 6,213,980 (GRCm39) |
E393G |
probably damaging |
Het |
Diaph1 |
A |
C |
18: 37,986,732 (GRCm39) |
Y1084* |
probably null |
Het |
Disp1 |
A |
T |
1: 182,868,042 (GRCm39) |
F1459L |
probably benign |
Het |
Dnajc8 |
G |
A |
4: 132,271,424 (GRCm39) |
A80T |
probably damaging |
Het |
Elfn1 |
T |
A |
5: 139,957,440 (GRCm39) |
M148K |
probably benign |
Het |
Emcn |
T |
A |
3: 137,124,763 (GRCm39) |
I154N |
probably damaging |
Het |
Enah |
T |
A |
1: 181,733,464 (GRCm39) |
|
probably null |
Het |
Enah |
C |
G |
1: 181,733,463 (GRCm39) |
|
probably null |
Het |
Ep300 |
C |
A |
15: 81,534,182 (GRCm39) |
Q2080K |
probably benign |
Het |
Epha2 |
T |
A |
4: 141,036,068 (GRCm39) |
M168K |
probably benign |
Het |
Ercc6 |
T |
A |
14: 32,284,565 (GRCm39) |
I776N |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fat4 |
G |
T |
3: 39,050,353 (GRCm39) |
|
probably null |
Het |
G3bp1 |
A |
G |
11: 55,388,786 (GRCm39) |
R333G |
possibly damaging |
Het |
Gm3604 |
A |
G |
13: 62,517,204 (GRCm39) |
F385L |
probably benign |
Het |
Gm5800 |
T |
C |
14: 51,951,157 (GRCm39) |
I147M |
possibly damaging |
Het |
Hipk1 |
A |
G |
3: 103,685,561 (GRCm39) |
F18S |
unknown |
Het |
Ighv3-8 |
A |
T |
12: 114,285,950 (GRCm39) |
C131S |
probably benign |
Het |
Il23r |
T |
G |
6: 67,400,477 (GRCm39) |
T618P |
probably damaging |
Het |
Il31ra |
G |
A |
13: 112,664,063 (GRCm39) |
T538I |
possibly damaging |
Het |
Kcns2 |
A |
G |
15: 34,840,059 (GRCm39) |
D474G |
unknown |
Het |
Klc4 |
T |
C |
17: 46,947,155 (GRCm39) |
T407A |
possibly damaging |
Het |
Klra5 |
C |
T |
6: 129,888,420 (GRCm39) |
S2N |
probably benign |
Het |
Krt10 |
T |
C |
11: 99,279,677 (GRCm39) |
Y161C |
probably damaging |
Het |
Kxd1 |
A |
T |
8: 70,975,928 (GRCm39) |
M1K |
probably null |
Het |
Lgals1 |
A |
C |
15: 78,812,240 (GRCm39) |
D27A |
possibly damaging |
Het |
Lgr5 |
T |
C |
10: 115,302,251 (GRCm39) |
S308G |
probably benign |
Het |
Lrp1 |
G |
A |
10: 127,392,857 (GRCm39) |
S2736L |
probably benign |
Het |
Lrpap1 |
G |
T |
5: 35,259,880 (GRCm39) |
H73N |
probably benign |
Het |
Mcpt1 |
C |
A |
14: 56,256,522 (GRCm39) |
T86K |
probably damaging |
Het |
Megf6 |
A |
T |
4: 154,339,044 (GRCm39) |
D527V |
probably damaging |
Het |
Mical3 |
A |
T |
6: 120,936,351 (GRCm39) |
S1392T |
probably benign |
Het |
Mmp2 |
A |
T |
8: 93,566,010 (GRCm39) |
D437V |
probably damaging |
Het |
Mob4 |
T |
A |
1: 55,191,881 (GRCm39) |
Y166* |
probably null |
Het |
Mrap2 |
G |
A |
9: 87,064,527 (GRCm39) |
M89I |
possibly damaging |
Het |
Mug1 |
G |
A |
6: 121,858,746 (GRCm39) |
A1155T |
probably damaging |
Het |
Myh2 |
G |
T |
11: 67,084,044 (GRCm39) |
A1556S |
probably benign |
Het |
Nfatc3 |
A |
G |
8: 106,845,954 (GRCm39) |
D1028G |
probably benign |
Het |
Ngef |
T |
G |
1: 87,430,985 (GRCm39) |
|
probably null |
Het |
Nlrp1a |
A |
T |
11: 70,983,339 (GRCm39) |
L1209Q |
probably null |
Het |
Nsd2 |
A |
T |
5: 34,036,454 (GRCm39) |
D646V |
probably damaging |
Het |
Nsun7 |
A |
G |
5: 66,434,415 (GRCm39) |
H252R |
probably damaging |
Het |
Or2a25 |
T |
A |
6: 42,888,791 (GRCm39) |
C111* |
probably null |
Het |
Or2k2 |
A |
T |
4: 58,785,647 (GRCm39) |
I25N |
possibly damaging |
Het |
Or51a10 |
C |
T |
7: 103,698,947 (GRCm39) |
V205I |
probably benign |
Het |
Or8g32 |
A |
T |
9: 39,305,156 (GRCm39) |
Q20L |
probably benign |
Het |
Or8g32 |
G |
T |
9: 39,305,157 (GRCm39) |
Q20H |
probably benign |
Het |
Pcdhga2 |
A |
T |
18: 37,803,638 (GRCm39) |
D494V |
probably damaging |
Het |
Pcsk2 |
A |
G |
2: 143,655,667 (GRCm39) |
E617G |
probably damaging |
Het |
Pdc |
T |
C |
1: 150,208,931 (GRCm39) |
I138T |
probably damaging |
Het |
Phc2 |
T |
A |
4: 128,641,927 (GRCm39) |
S750T |
probably damaging |
Het |
Pkd2l1 |
T |
A |
19: 44,179,947 (GRCm39) |
N88Y |
possibly damaging |
Het |
Plcl1 |
C |
T |
1: 55,445,757 (GRCm39) |
R71* |
probably null |
Het |
Prag1 |
C |
A |
8: 36,571,048 (GRCm39) |
L544M |
probably damaging |
Het |
Prkg2 |
A |
G |
5: 99,114,369 (GRCm39) |
|
probably null |
Het |
Psd2 |
G |
A |
18: 36,112,764 (GRCm39) |
S153N |
probably damaging |
Het |
Rab11fip1 |
A |
T |
8: 27,643,000 (GRCm39) |
S600T |
probably damaging |
Het |
Rbms1 |
T |
G |
2: 60,592,648 (GRCm39) |
T222P |
probably benign |
Het |
Slfn8 |
A |
T |
11: 82,904,243 (GRCm39) |
Y382* |
probably null |
Het |
Socs4 |
T |
A |
14: 47,527,195 (GRCm39) |
C43* |
probably null |
Het |
Sorl1 |
T |
A |
9: 41,944,922 (GRCm39) |
T868S |
probably damaging |
Het |
St6gal1 |
A |
G |
16: 23,174,963 (GRCm39) |
Y267C |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,076,682 (GRCm39) |
V6879A |
probably benign |
Het |
Syne2 |
C |
A |
12: 75,900,906 (GRCm39) |
H22N |
possibly damaging |
Het |
Tmeff2 |
T |
A |
1: 50,967,180 (GRCm39) |
L25Q |
probably damaging |
Het |
Tmprss11g |
G |
T |
5: 86,635,285 (GRCm39) |
D396E |
probably benign |
Het |
Tmprss11g |
T |
A |
5: 86,635,295 (GRCm39) |
H393L |
probably benign |
Het |
Vmn2r23 |
A |
G |
6: 123,681,512 (GRCm39) |
E140G |
probably damaging |
Het |
Wapl |
T |
C |
14: 34,399,320 (GRCm39) |
S130P |
probably benign |
Het |
Zeb2 |
T |
A |
2: 44,884,541 (GRCm39) |
K982M |
probably damaging |
Het |
Zfhx3 |
C |
G |
8: 109,683,453 (GRCm39) |
H3631D |
unknown |
Het |
Zfp719 |
T |
C |
7: 43,240,130 (GRCm39) |
S573P |
probably damaging |
Het |
Zfp979 |
A |
T |
4: 147,697,999 (GRCm39) |
C237S |
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 |
IGL01447:Npr2
|
APN |
4 |
43,640,554 (GRCm39) |
missense |
possibly damaging |
0.93 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCATTCTCAGTGGATGCGG -3'
(R):5'- ACCAAGTGAGAGCATTCTGCC -3'
Sequencing Primer
(F):5'- GCTGGTGTGCCTCAGGG -3'
(R):5'- AGAGCATTCTGCCTGTAGC -3'
|
Posted On |
2018-11-28 |