Incidental Mutation 'R1741:Npr2'
| ID |
200329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npr2
|
| Ensembl Gene |
ENSMUSG00000028469 |
| Gene Name |
natriuretic peptide receptor 2 |
| Synonyms |
pwe, guanylyl cyclase-B, cn |
| MMRRC Submission |
039773-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.778)
|
| Stock # |
R1741 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43631935-43651244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43643350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 525
(G525S)
|
| 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: G525S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469
AA Change: G525S
| 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: ENSMUST00000107874
AA Change: G525S
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469
AA Change: G525S
| 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 |
unknown
Transcript: ENSMUST00000128549
AA Change: G90S
|
| SMART Domains |
Protein: ENSMUSP00000114385
Gene: ENSMUSG00000028469
AA Change: G90S
| 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: ENSMUST00000151603
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145817
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.5%
- 20x: 92.9%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034E13Rik |
A |
G |
18: 52,793,578 (GRCm39) |
N37S |
probably damaging |
Het |
| Acad10 |
T |
C |
5: 121,785,899 (GRCm39) |
K230R |
probably damaging |
Het |
| Actl7a |
A |
G |
4: 56,744,252 (GRCm39) |
N260D |
probably benign |
Het |
| Adam24 |
T |
C |
8: 41,132,642 (GRCm39) |
Y37H |
probably benign |
Het |
| Ahcy |
G |
A |
2: 154,906,154 (GRCm39) |
A229V |
probably benign |
Het |
| Ap3b2 |
A |
G |
7: 81,117,347 (GRCm39) |
V563A |
possibly damaging |
Het |
| Bcl9l |
T |
A |
9: 44,420,986 (GRCm39) |
M1427K |
probably damaging |
Het |
| Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
| Btg4 |
A |
T |
9: 51,027,910 (GRCm39) |
I27L |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,539,076 (GRCm39) |
Y366C |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,246,480 (GRCm39) |
Y1085H |
probably damaging |
Het |
| Cnot10 |
T |
C |
9: 114,426,892 (GRCm39) |
D616G |
possibly damaging |
Het |
| Crlf1 |
C |
A |
8: 70,953,556 (GRCm39) |
D243E |
probably damaging |
Het |
| Cyp2b23 |
A |
G |
7: 26,372,502 (GRCm39) |
V371A |
possibly damaging |
Het |
| Dennd2a |
A |
G |
6: 39,470,091 (GRCm39) |
S534P |
probably damaging |
Het |
| Eln |
A |
G |
5: 134,758,038 (GRCm39) |
V185A |
unknown |
Het |
| Epor |
C |
T |
9: 21,871,067 (GRCm39) |
G301D |
probably damaging |
Het |
| Fam83f |
T |
G |
15: 80,576,468 (GRCm39) |
V373G |
possibly damaging |
Het |
| Fbxl21 |
A |
T |
13: 56,684,915 (GRCm39) |
T340S |
probably benign |
Het |
| Fcgbpl1 |
G |
T |
7: 27,857,279 (GRCm39) |
C2209F |
probably damaging |
Het |
| Fez1 |
T |
A |
9: 36,755,029 (GRCm39) |
D9E |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,820,256 (GRCm39) |
F5330L |
probably benign |
Het |
| Glis1 |
G |
A |
4: 107,425,544 (GRCm39) |
R197Q |
probably damaging |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Gpr158 |
A |
G |
2: 21,832,359 (GRCm39) |
N1153S |
probably benign |
Het |
| Gramd4 |
T |
C |
15: 85,975,730 (GRCm39) |
|
probably null |
Het |
| Hhatl |
T |
A |
9: 121,618,125 (GRCm39) |
Y210F |
possibly damaging |
Het |
| Hltf |
T |
C |
3: 20,140,352 (GRCm39) |
W422R |
probably damaging |
Het |
| Hspa5 |
T |
C |
2: 34,662,704 (GRCm39) |
S87P |
possibly damaging |
Het |
| Il21 |
T |
C |
3: 37,281,811 (GRCm39) |
H111R |
probably benign |
Het |
| Ip6k1 |
G |
A |
9: 107,918,183 (GRCm39) |
G73S |
probably benign |
Het |
| Kdm5b |
A |
G |
1: 134,545,755 (GRCm39) |
D972G |
possibly damaging |
Het |
| Kif21b |
C |
T |
1: 136,083,880 (GRCm39) |
A709V |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,743,115 (GRCm39) |
|
probably benign |
Het |
| Lrrc14b |
A |
G |
13: 74,511,705 (GRCm39) |
L125P |
probably damaging |
Het |
| Mapk8ip3 |
A |
G |
17: 25,118,828 (GRCm39) |
S1169P |
probably damaging |
Het |
| Me3 |
A |
T |
7: 89,501,041 (GRCm39) |
Y584F |
probably damaging |
Het |
| Mxra7 |
T |
G |
11: 116,707,070 (GRCm39) |
|
probably null |
Het |
| Nf1 |
T |
C |
11: 79,334,757 (GRCm39) |
S870P |
probably benign |
Het |
| Nyap1 |
A |
T |
5: 137,731,387 (GRCm39) |
S726T |
probably damaging |
Het |
| Padi4 |
A |
G |
4: 140,473,481 (GRCm39) |
V652A |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,726,524 (GRCm39) |
|
probably benign |
Het |
| Pgm1 |
G |
A |
4: 99,822,062 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
A |
G |
18: 63,154,244 (GRCm39) |
S2512P |
probably damaging |
Het |
| Ptbp3 |
A |
T |
4: 59,482,624 (GRCm39) |
D386E |
probably damaging |
Het |
| Ptk2 |
A |
G |
15: 73,114,255 (GRCm39) |
V701A |
possibly damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,254,922 (GRCm39) |
V154A |
probably damaging |
Het |
| Rassf4 |
T |
C |
6: 116,616,450 (GRCm39) |
E287G |
probably damaging |
Het |
| Rnh1 |
C |
T |
7: 140,743,936 (GRCm39) |
R174H |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,317,938 (GRCm39) |
I1517F |
probably damaging |
Het |
| Sftpb |
C |
A |
6: 72,282,797 (GRCm39) |
A90E |
probably benign |
Het |
| Slc39a14 |
T |
C |
14: 70,556,193 (GRCm39) |
K61R |
probably damaging |
Het |
| Tmem132d |
A |
C |
5: 127,861,922 (GRCm39) |
M733R |
probably benign |
Het |
| Tmem248 |
A |
G |
5: 130,265,664 (GRCm39) |
I156V |
probably benign |
Het |
| Traf2 |
T |
C |
2: 25,414,495 (GRCm39) |
D339G |
probably damaging |
Het |
| Trappc11 |
A |
G |
8: 47,982,362 (GRCm39) |
|
probably null |
Het |
| Tuba8 |
T |
A |
6: 121,199,727 (GRCm39) |
I137N |
possibly damaging |
Het |
| Txlnb |
A |
G |
10: 17,714,695 (GRCm39) |
T376A |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,314,103 (GRCm39) |
T663A |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,431 (GRCm39) |
F669I |
probably damaging |
Het |
| Wdr95 |
G |
A |
5: 149,518,861 (GRCm39) |
|
probably null |
Het |
| Wfdc8 |
T |
G |
2: 164,450,789 (GRCm39) |
|
probably benign |
Het |
| Zfp64 |
A |
C |
2: 168,768,238 (GRCm39) |
V458G |
probably benign |
Het |
| Zfp868 |
C |
T |
8: 70,064,519 (GRCm39) |
G272D |
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 |
|
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 |
|
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'- GGCAACTCGGATCGCTATCACAAG -3'
(R):5'- TTCCCTAAGGTGGGGTGGAAACAG -3'
Sequencing Primer
(F):5'- ATCGCTATCACAAGGGTGC -3'
(R):5'- CCAAGAACCTCGCTGGGAAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation