Incidental Mutation 'R6925:Npr2'
| ID |
541064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npr2
|
| Ensembl Gene |
ENSMUSG00000028469 |
| Gene Name |
natriuretic peptide receptor 2 |
| Synonyms |
pwe, cn, guanylyl cyclase-B |
| MMRRC Submission |
045043-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.782)
|
| Stock # |
R6925 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43631935-43651244 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 43647553 bp (GRCm38)
|
| 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 |
|---|
| 5430419D17Rik |
A |
G |
7: 131,222,707 |
Q177R |
possibly damaging |
Het |
| Acat1 |
A |
T |
9: 53,592,029 |
V170E |
probably benign |
Het |
| Atp2b2 |
T |
A |
6: 113,760,720 |
I902F |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 30,051,637 |
V1697A |
probably benign |
Het |
| Ccdc14 |
T |
A |
16: 34,690,749 |
F31Y |
probably benign |
Het |
| Ccdc17 |
T |
A |
4: 116,598,210 |
V250E |
probably damaging |
Het |
| Cct7 |
A |
G |
6: 85,459,182 |
N25S |
probably damaging |
Het |
| Cep19 |
G |
C |
16: 32,103,942 |
G9R |
probably damaging |
Het |
| Ces5a |
A |
T |
8: 93,523,057 |
|
probably null |
Het |
| Chd1l |
T |
G |
3: 97,582,826 |
E471A |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 161,013,127 |
I787T |
probably damaging |
Het |
| Cntnap5c |
A |
C |
17: 58,395,266 |
T1194P |
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,816,002 |
M208L |
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,628,674 |
|
probably null |
Het |
| Csrnp2 |
T |
C |
15: 100,481,958 |
K484R |
probably benign |
Het |
| Cyp2c39 |
T |
A |
19: 39,513,195 |
V64E |
probably damaging |
Het |
| Ddr2 |
T |
C |
1: 169,998,132 |
K300E |
probably benign |
Het |
| Ddx56 |
T |
C |
11: 6,263,980 |
E393G |
probably damaging |
Het |
| Diaph1 |
A |
C |
18: 37,853,679 |
Y1084* |
probably null |
Het |
| Disp1 |
A |
T |
1: 183,086,478 |
F1459L |
probably benign |
Het |
| Dnajc8 |
G |
A |
4: 132,544,113 |
A80T |
probably damaging |
Het |
| Elfn1 |
T |
A |
5: 139,971,685 |
M148K |
probably benign |
Het |
| Emcn |
T |
A |
3: 137,419,002 |
I154N |
probably damaging |
Het |
| Enah |
T |
A |
1: 181,905,899 |
|
probably null |
Het |
| Enah |
C |
G |
1: 181,905,898 |
|
probably null |
Het |
| Ep300 |
C |
A |
15: 81,649,981 |
Q2080K |
probably benign |
Het |
| Epha2 |
T |
A |
4: 141,308,757 |
M168K |
probably benign |
Het |
| Ercc6 |
T |
A |
14: 32,562,608 |
I776N |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,372,486 |
N340Y |
probably damaging |
Het |
| Fat4 |
G |
T |
3: 38,996,204 |
|
probably null |
Het |
| G3bp1 |
A |
G |
11: 55,497,960 |
R333G |
possibly damaging |
Het |
| Gm3604 |
A |
G |
13: 62,369,390 |
F385L |
probably benign |
Het |
| Gm5800 |
T |
C |
14: 51,713,700 |
I147M |
possibly damaging |
Het |
| Hipk1 |
A |
G |
3: 103,778,245 |
F18S |
unknown |
Het |
| Ighv3-8 |
A |
T |
12: 114,322,330 |
C131S |
probably benign |
Het |
| Il23r |
T |
G |
6: 67,423,493 |
T618P |
probably damaging |
Het |
| Il31ra |
G |
A |
13: 112,527,529 |
T538I |
possibly damaging |
Het |
| Kcns2 |
A |
G |
15: 34,839,913 |
D474G |
unknown |
Het |
| Klc4 |
T |
C |
17: 46,636,229 |
T407A |
possibly damaging |
Het |
| Klra5 |
C |
T |
6: 129,911,457 |
S2N |
probably benign |
Het |
| Krt10 |
T |
C |
11: 99,388,851 |
Y161C |
probably damaging |
Het |
| Kxd1 |
A |
T |
8: 70,523,278 |
M1K |
probably null |
Het |
| Lgals1 |
A |
C |
15: 78,928,040 |
D27A |
possibly damaging |
Het |
| Lgr5 |
T |
C |
10: 115,466,346 |
S308G |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,556,988 |
S2736L |
probably benign |
Het |
| Lrpap1 |
G |
T |
5: 35,102,536 |
H73N |
probably benign |
Het |
| Mcpt1 |
C |
A |
14: 56,019,065 |
T86K |
probably damaging |
Het |
| Megf6 |
A |
T |
4: 154,254,587 |
D527V |
probably damaging |
Het |
| Mical3 |
A |
T |
6: 120,959,390 |
S1392T |
probably benign |
Het |
| Mmp2 |
A |
T |
8: 92,839,382 |
D437V |
probably damaging |
Het |
| Mob4 |
T |
A |
1: 55,152,722 |
Y166* |
probably null |
Het |
| Mrap2 |
G |
A |
9: 87,182,474 |
M89I |
possibly damaging |
Het |
| Mug1 |
G |
A |
6: 121,881,787 |
A1155T |
probably damaging |
Het |
| Myh2 |
G |
T |
11: 67,193,218 |
A1556S |
probably benign |
Het |
| Nfatc3 |
A |
G |
8: 106,119,322 |
D1028G |
probably benign |
Het |
| Ngef |
T |
G |
1: 87,503,263 |
|
probably null |
Het |
| Nlrp1a |
A |
T |
11: 71,092,513 |
L1209Q |
probably null |
Het |
| Nsd2 |
A |
T |
5: 33,879,110 |
D646V |
probably damaging |
Het |
| Nsun7 |
A |
G |
5: 66,277,072 |
H252R |
probably damaging |
Het |
| Olfr267 |
A |
T |
4: 58,785,647 |
I25N |
possibly damaging |
Het |
| Olfr447 |
T |
A |
6: 42,911,857 |
C111* |
probably null |
Het |
| Olfr642 |
C |
T |
7: 104,049,740 |
V205I |
probably benign |
Het |
| Olfr951 |
A |
T |
9: 39,393,860 |
Q20L |
probably benign |
Het |
| Olfr951 |
G |
T |
9: 39,393,861 |
Q20H |
probably benign |
Het |
| Pcdhga2 |
A |
T |
18: 37,670,585 |
D494V |
probably damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,813,747 |
E617G |
probably damaging |
Het |
| Pdc |
T |
C |
1: 150,333,180 |
I138T |
probably damaging |
Het |
| Phc2 |
T |
A |
4: 128,748,134 |
S750T |
probably damaging |
Het |
| Pkd2l1 |
T |
A |
19: 44,191,508 |
N88Y |
possibly damaging |
Het |
| Plcl1 |
C |
T |
1: 55,406,598 |
R71* |
probably null |
Het |
| Prag1 |
C |
A |
8: 36,103,894 |
L544M |
probably damaging |
Het |
| Prkg2 |
A |
G |
5: 98,966,510 |
|
probably null |
Het |
| Psd2 |
G |
A |
18: 35,979,711 |
S153N |
probably damaging |
Het |
| Rab11fip1 |
A |
T |
8: 27,152,972 |
S600T |
probably damaging |
Het |
| Rbms1 |
T |
G |
2: 60,762,304 |
T222P |
probably benign |
Het |
| Slfn8 |
A |
T |
11: 83,013,417 |
Y382* |
probably null |
Het |
| Socs4 |
T |
A |
14: 47,289,738 |
C43* |
probably null |
Het |
| Sorl1 |
T |
A |
9: 42,033,626 |
T868S |
probably damaging |
Het |
| St6gal1 |
A |
G |
16: 23,356,213 |
Y267C |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,126,682 |
V6879A |
probably benign |
Het |
| Syne2 |
C |
A |
12: 75,854,132 |
H22N |
possibly damaging |
Het |
| Tmeff2 |
T |
A |
1: 50,928,021 |
L25Q |
probably damaging |
Het |
| Tmprss11g |
G |
T |
5: 86,487,426 |
D396E |
probably benign |
Het |
| Tmprss11g |
T |
A |
5: 86,487,436 |
H393L |
probably benign |
Het |
| Vmn2r23 |
A |
G |
6: 123,704,553 |
E140G |
probably damaging |
Het |
| Wapl |
T |
C |
14: 34,677,363 |
S130P |
probably benign |
Het |
| Zeb2 |
T |
A |
2: 44,994,529 |
K982M |
probably damaging |
Het |
| Zfhx3 |
C |
G |
8: 108,956,821 |
H3631D |
unknown |
Het |
| Zfp719 |
T |
C |
7: 43,590,706 |
S573P |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,613,542 |
C237S |
possibly damaging |
Het |
|
| Other mutations in Npr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Npr2
|
APN |
4 |
43,641,612 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
IGL01116:Npr2
|
APN |
4 |
43,640,248 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01447:Npr2
|
APN |
4 |
43,640,554 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02412:Npr2
|
APN |
4 |
43,647,005 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02449:Npr2
|
APN |
4 |
43,646,641 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03120:Npr2
|
APN |
4 |
43,643,133 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03351:Npr2
|
APN |
4 |
43,640,652 (GRCm38) |
missense |
probably benign |
0.36 |
|
Anterior
|
UTSW |
4 |
43,643,622 (GRCm38) |
missense |
probably damaging |
1.00 |
|
palmar
|
UTSW |
4 |
43,647,553 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Plantar
|
UTSW |
4 |
43,640,597 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Ventral
|
UTSW |
4 |
43,641,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0066:Npr2
|
UTSW |
4 |
43,632,329 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0201:Npr2
|
UTSW |
4 |
43,641,617 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0309:Npr2
|
UTSW |
4 |
43,640,904 (GRCm38) |
unclassified |
probably benign |
|
|
R0437:Npr2
|
UTSW |
4 |
43,648,082 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0440:Npr2
|
UTSW |
4 |
43,650,315 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0464:Npr2
|
UTSW |
4 |
43,640,597 (GRCm38) |
splice site |
probably null |
|
|
R0511:Npr2
|
UTSW |
4 |
43,632,801 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0576:Npr2
|
UTSW |
4 |
43,640,947 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0630:Npr2
|
UTSW |
4 |
43,641,219 (GRCm38) |
missense |
probably benign |
0.18 |
|
R0690:Npr2
|
UTSW |
4 |
43,646,991 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1079:Npr2
|
UTSW |
4 |
43,643,654 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1140:Npr2
|
UTSW |
4 |
43,648,353 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R1171:Npr2
|
UTSW |
4 |
43,647,260 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R1741:Npr2
|
UTSW |
4 |
43,643,350 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1848:Npr2
|
UTSW |
4 |
43,632,384 (GRCm38) |
missense |
probably benign |
|
|
R1864:Npr2
|
UTSW |
4 |
43,641,258 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1919:Npr2
|
UTSW |
4 |
43,640,578 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2054:Npr2
|
UTSW |
4 |
43,646,560 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2106:Npr2
|
UTSW |
4 |
43,644,329 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2143:Npr2
|
UTSW |
4 |
43,648,166 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2306:Npr2
|
UTSW |
4 |
43,633,609 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2372:Npr2
|
UTSW |
4 |
43,650,432 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2889:Npr2
|
UTSW |
4 |
43,641,600 (GRCm38) |
missense |
probably benign |
0.26 |
|
R3076:Npr2
|
UTSW |
4 |
43,640,182 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3078:Npr2
|
UTSW |
4 |
43,640,182 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3711:Npr2
|
UTSW |
4 |
43,643,378 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3730:Npr2
|
UTSW |
4 |
43,640,999 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4301:Npr2
|
UTSW |
4 |
43,641,332 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4352:Npr2
|
UTSW |
4 |
43,646,592 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4412:Npr2
|
UTSW |
4 |
43,644,150 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4583:Npr2
|
UTSW |
4 |
43,633,522 (GRCm38) |
splice site |
probably null |
|
|
R4593:Npr2
|
UTSW |
4 |
43,647,323 (GRCm38) |
unclassified |
probably benign |
|
|
R5042:Npr2
|
UTSW |
4 |
43,647,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5213:Npr2
|
UTSW |
4 |
43,640,673 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5546:Npr2
|
UTSW |
4 |
43,650,150 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5784:Npr2
|
UTSW |
4 |
43,632,801 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5787:Npr2
|
UTSW |
4 |
43,633,593 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6364:Npr2
|
UTSW |
4 |
43,643,622 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6949:Npr2
|
UTSW |
4 |
43,640,597 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7380:Npr2
|
UTSW |
4 |
43,641,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7432:Npr2
|
UTSW |
4 |
43,647,155 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7500:Npr2
|
UTSW |
4 |
43,650,415 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8235:Npr2
|
UTSW |
4 |
43,641,603 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8292:Npr2
|
UTSW |
4 |
43,643,086 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R9310:Npr2
|
UTSW |
4 |
43,632,404 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9684:Npr2
|
UTSW |
4 |
43,632,491 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9746:Npr2
|
UTSW |
4 |
43,633,527 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
Z1176:Npr2
|
UTSW |
4 |
43,650,720 (GRCm38) |
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 |
Incidental Mutation