Incidental Mutation 'R0201:Npr2'
| ID |
23618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npr2
|
| Ensembl Gene |
ENSMUSG00000028469 |
| Gene Name |
natriuretic peptide receptor 2 |
| Synonyms |
pwe, guanylyl cyclase-B, cn |
| MMRRC Submission |
038458-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.748)
|
| Stock # |
R0201 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43631935-43651244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 43641617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 474
(S474R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030191]
[ENSMUST00000107874]
|
| AlphaFold |
Q6VVW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030191
AA Change: S474R
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469
AA Change: S474R
| 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 damaging
Transcript: ENSMUST00000107874
AA Change: S474R
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469
AA Change: S474R
| 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
AA Change: S45R
PolyPhen 2
Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000117761
Gene: ENSMUSG00000028469
AA Change: S45R
| 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 |
possibly damaging
Transcript: ENSMUST00000128549
AA Change: S39R
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114385
Gene: ENSMUSG00000028469
AA Change: S39R
| 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: ENSMUST00000130093
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145817
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144418
|
| Meta Mutation Damage Score |
0.3496 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.2%
|
| Validation Efficiency |
97% (91/94) |
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
A |
G |
14: 68,819,406 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
T |
A |
13: 70,927,763 (GRCm39) |
Q492L |
possibly damaging |
Het |
| Aplnr |
A |
G |
2: 84,967,521 (GRCm39) |
D182G |
probably damaging |
Het |
| Arnt2 |
G |
T |
7: 84,010,867 (GRCm39) |
S3* |
probably null |
Het |
| Asxl3 |
T |
C |
18: 22,656,211 (GRCm39) |
V1407A |
probably benign |
Het |
| Atg13 |
A |
T |
2: 91,515,107 (GRCm39) |
|
probably null |
Het |
| Atm |
A |
T |
9: 53,365,579 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
T |
G |
17: 74,916,322 (GRCm39) |
V1746G |
possibly damaging |
Het |
| Cbln1 |
G |
T |
8: 88,198,741 (GRCm39) |
T43K |
probably benign |
Het |
| Cbx5 |
T |
C |
15: 103,108,127 (GRCm39) |
T173A |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,894,854 (GRCm39) |
Y1437C |
probably damaging |
Het |
| Ccdc78 |
C |
A |
17: 26,008,210 (GRCm39) |
|
probably benign |
Het |
| Cd2bp2 |
A |
G |
7: 126,793,000 (GRCm39) |
Y341H |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,856,291 (GRCm39) |
D88V |
probably damaging |
Het |
| Ces1f |
T |
A |
8: 93,993,957 (GRCm39) |
T275S |
probably null |
Het |
| Cimip4 |
T |
A |
15: 78,263,028 (GRCm39) |
M209L |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,666,478 (GRCm39) |
N458S |
probably benign |
Het |
| Cog5 |
A |
G |
12: 31,889,840 (GRCm39) |
K521R |
probably damaging |
Het |
| Csf2ra |
T |
A |
19: 61,214,006 (GRCm39) |
T305S |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,483,125 (GRCm39) |
|
probably benign |
Het |
| Cts6 |
T |
A |
13: 61,349,313 (GRCm39) |
R132* |
probably null |
Het |
| D5Ertd579e |
G |
T |
5: 36,773,809 (GRCm39) |
N195K |
probably damaging |
Het |
| Ddx1 |
A |
G |
12: 13,273,809 (GRCm39) |
V606A |
probably damaging |
Het |
| Dip2b |
G |
A |
15: 100,084,028 (GRCm39) |
D884N |
probably damaging |
Het |
| Ehhadh |
A |
G |
16: 21,592,243 (GRCm39) |
|
probably null |
Het |
| Enpp1 |
T |
A |
10: 24,529,815 (GRCm39) |
T608S |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,148,406 (GRCm39) |
Y674H |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,945,745 (GRCm39) |
V1546D |
probably damaging |
Het |
| Fsd1 |
G |
A |
17: 56,297,522 (GRCm39) |
A158T |
probably benign |
Het |
| Fzd2 |
T |
A |
11: 102,496,948 (GRCm39) |
M464K |
probably damaging |
Het |
| Gjc2 |
A |
G |
11: 59,068,416 (GRCm39) |
F22S |
possibly damaging |
Het |
| Gria2 |
T |
C |
3: 80,615,145 (GRCm39) |
Y445C |
probably damaging |
Het |
| Hsdl1 |
T |
A |
8: 120,292,995 (GRCm39) |
I147F |
possibly damaging |
Het |
| Ifi44 |
T |
C |
3: 151,451,273 (GRCm39) |
Y226C |
probably damaging |
Het |
| Il16 |
A |
G |
7: 83,371,516 (GRCm39) |
C97R |
probably damaging |
Het |
| Impg1 |
A |
T |
9: 80,252,843 (GRCm39) |
S369T |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,054,888 (GRCm39) |
T390A |
unknown |
Het |
| Lgi1 |
A |
G |
19: 38,289,741 (GRCm39) |
E269G |
possibly damaging |
Het |
| Lrp6 |
G |
T |
6: 134,427,860 (GRCm39) |
Y1577* |
probably null |
Het |
| Lrrc74a |
G |
T |
12: 86,808,547 (GRCm39) |
|
probably benign |
Het |
| Man1c1 |
A |
T |
4: 134,367,709 (GRCm39) |
|
probably null |
Het |
| Map1lc3b |
A |
C |
8: 122,317,289 (GRCm39) |
Q9P |
possibly damaging |
Het |
| Mboat1 |
G |
A |
13: 30,386,358 (GRCm39) |
R124H |
probably benign |
Het |
| Mcu |
A |
G |
10: 59,292,499 (GRCm39) |
L60P |
probably damaging |
Het |
| Mrs2 |
G |
T |
13: 25,202,517 (GRCm39) |
Q75K |
probably benign |
Het |
| Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
| Neb |
G |
A |
2: 52,096,890 (GRCm39) |
|
probably benign |
Het |
| Nlrp2 |
C |
T |
7: 5,331,328 (GRCm39) |
G356D |
probably benign |
Het |
| Notch3 |
A |
G |
17: 32,375,122 (GRCm39) |
|
probably benign |
Het |
| Nup58 |
A |
G |
14: 60,482,065 (GRCm39) |
F100L |
probably benign |
Het |
| Osbpl6 |
A |
C |
2: 76,376,386 (GRCm39) |
D87A |
possibly damaging |
Het |
| Pabpc2 |
A |
T |
18: 39,908,360 (GRCm39) |
M542L |
probably benign |
Het |
| Papln |
A |
G |
12: 83,829,801 (GRCm39) |
|
probably benign |
Het |
| Parpbp |
T |
C |
10: 87,928,758 (GRCm39) |
I561V |
possibly damaging |
Het |
| Pcdhb13 |
C |
T |
18: 37,575,634 (GRCm39) |
A4V |
probably benign |
Het |
| Pelp1 |
T |
C |
11: 70,286,530 (GRCm39) |
T533A |
possibly damaging |
Het |
| Poldip3 |
T |
A |
15: 83,019,497 (GRCm39) |
M182L |
probably benign |
Het |
| Por |
T |
C |
5: 135,760,032 (GRCm39) |
S240P |
possibly damaging |
Het |
| Pramel15 |
A |
T |
4: 144,103,843 (GRCm39) |
|
probably benign |
Het |
| Pramel28 |
T |
C |
4: 143,691,460 (GRCm39) |
E421G |
probably damaging |
Het |
| Prss22 |
A |
T |
17: 24,215,275 (GRCm39) |
V167D |
probably damaging |
Het |
| Prss37 |
A |
C |
6: 40,493,283 (GRCm39) |
L61R |
probably damaging |
Het |
| Psmd1 |
C |
T |
1: 86,046,338 (GRCm39) |
T702M |
probably benign |
Het |
| Pxdn |
G |
T |
12: 30,052,430 (GRCm39) |
G869V |
possibly damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,281,315 (GRCm39) |
|
probably benign |
Het |
| Rapgef6 |
T |
C |
11: 54,510,767 (GRCm39) |
V228A |
probably damaging |
Het |
| Rnf169 |
T |
C |
7: 99,575,210 (GRCm39) |
R462G |
possibly damaging |
Het |
| Rnft2 |
A |
G |
5: 118,332,745 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
T |
C |
8: 64,379,670 (GRCm39) |
D1054G |
probably benign |
Het |
| Sh3bgr |
T |
C |
16: 96,029,717 (GRCm39) |
|
probably benign |
Het |
| Slc12a4 |
A |
G |
8: 106,671,982 (GRCm39) |
V910A |
possibly damaging |
Het |
| Slc6a12 |
A |
T |
6: 121,332,331 (GRCm39) |
I222F |
probably benign |
Het |
| Spty2d1 |
G |
A |
7: 46,647,649 (GRCm39) |
R427* |
probably null |
Het |
| Ssc5d |
A |
G |
7: 4,947,662 (GRCm39) |
T1339A |
probably benign |
Het |
| Sspo |
A |
C |
6: 48,432,686 (GRCm39) |
E854A |
possibly damaging |
Het |
| Stx7 |
A |
G |
10: 24,060,977 (GRCm39) |
|
probably benign |
Het |
| Styk1 |
A |
T |
6: 131,278,693 (GRCm39) |
|
probably benign |
Het |
| Tmem163 |
T |
G |
1: 127,596,374 (GRCm39) |
|
probably benign |
Het |
| Tmppe |
C |
CT |
9: 114,233,707 (GRCm39) |
|
probably null |
Het |
| Tmx2 |
A |
G |
2: 84,503,426 (GRCm39) |
V229A |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,383,174 (GRCm38) |
L54P |
probably damaging |
Het |
| Trim62 |
A |
T |
4: 128,796,343 (GRCm39) |
Y280F |
probably benign |
Het |
| Tssk4 |
A |
T |
14: 55,889,016 (GRCm39) |
K181* |
probably null |
Het |
| Tssk4 |
A |
T |
14: 55,889,017 (GRCm39) |
K181M |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,882,478 (GRCm39) |
D313G |
probably damaging |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Ugt1a10 |
C |
T |
1: 88,145,971 (GRCm39) |
P473L |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGGACGACCCATCCTGTGATA -3'
(R):5'- GCCAGAGAGAAAGCTGCCAGTC -3'
Sequencing Primer
(F):5'- CGACCCATCCTGTGATAAAAGTG -3'
(R):5'- GAAAGCTGCCAGTCCAAGAAAC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation