Incidental Mutation 'R5213:Npr2'
ID |
403247 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Npr2
|
Ensembl Gene |
ENSMUSG00000028469 |
Gene Name |
natriuretic peptide receptor 2 |
Synonyms |
pwe, guanylyl cyclase-B, cn |
MMRRC Submission |
042854-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.748)
|
Stock # |
R5213 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
43631935-43651244 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 43640673 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103506
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030191]
[ENSMUST00000107874]
|
AlphaFold |
Q6VVW5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030191
|
SMART Domains |
Protein: ENSMUSP00000030191 Gene: ENSMUSG00000028469
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 null
Transcript: ENSMUST00000107874
|
SMART Domains |
Protein: ENSMUSP00000103506 Gene: ENSMUSG00000028469
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
C |
A |
4: 86,303,865 (GRCm39) |
H1342N |
possibly damaging |
Het |
Adcy2 |
G |
T |
13: 68,768,942 (GRCm39) |
T1062K |
possibly damaging |
Het |
Aqr |
T |
C |
2: 113,943,808 (GRCm39) |
N1110S |
probably damaging |
Het |
Atp10a |
C |
T |
7: 58,423,731 (GRCm39) |
T232I |
probably damaging |
Het |
Atp5pb |
T |
A |
3: 105,863,227 (GRCm39) |
K70* |
probably null |
Het |
Atp8b4 |
A |
C |
2: 126,231,329 (GRCm39) |
|
probably null |
Het |
Atraid |
A |
C |
5: 31,209,552 (GRCm39) |
Q72P |
probably damaging |
Het |
Atxn2 |
G |
T |
5: 121,952,543 (GRCm39) |
|
probably null |
Het |
Best3 |
A |
T |
10: 116,860,377 (GRCm39) |
T546S |
probably benign |
Het |
Brd3 |
T |
C |
2: 27,353,960 (GRCm39) |
K51E |
possibly damaging |
Het |
Brip1 |
A |
G |
11: 86,034,147 (GRCm39) |
S525P |
possibly damaging |
Het |
Cenpf |
A |
G |
1: 189,387,177 (GRCm39) |
I1701T |
probably benign |
Het |
Chrna9 |
A |
T |
5: 66,128,427 (GRCm39) |
K208* |
probably null |
Het |
Clec2l |
T |
A |
6: 38,657,127 (GRCm39) |
C197S |
probably damaging |
Het |
Crp |
A |
G |
1: 172,526,086 (GRCm39) |
H57R |
probably benign |
Het |
Cyp27b1 |
C |
A |
10: 126,887,964 (GRCm39) |
T492N |
probably damaging |
Het |
Dock4 |
A |
T |
12: 40,726,741 (GRCm39) |
I340F |
probably damaging |
Het |
Dsg1b |
A |
T |
18: 20,528,987 (GRCm39) |
D241V |
probably damaging |
Het |
Epg5 |
G |
T |
18: 78,058,049 (GRCm39) |
V1865L |
probably benign |
Het |
Erap1 |
A |
G |
13: 74,819,614 (GRCm39) |
|
probably null |
Het |
Fat2 |
C |
T |
11: 55,144,658 (GRCm39) |
C4072Y |
probably benign |
Het |
Fat4 |
T |
A |
3: 39,034,340 (GRCm39) |
I2664N |
possibly damaging |
Het |
Gabrp |
A |
G |
11: 33,517,211 (GRCm39) |
|
probably null |
Het |
Glis2 |
G |
T |
16: 4,431,946 (GRCm39) |
|
probably benign |
Het |
Gm17654 |
A |
G |
14: 43,816,559 (GRCm39) |
S15P |
probably damaging |
Het |
Gm21836 |
A |
G |
9: 124,252,736 (GRCm39) |
V14A |
unknown |
Het |
Gon7 |
G |
A |
12: 102,720,380 (GRCm39) |
T84I |
possibly damaging |
Het |
Greb1 |
G |
T |
12: 16,764,791 (GRCm39) |
Y447* |
probably null |
Het |
Grip2 |
A |
T |
6: 91,756,812 (GRCm39) |
D546E |
probably benign |
Het |
Hectd1 |
A |
G |
12: 51,849,316 (GRCm39) |
|
probably null |
Het |
Il36a |
T |
A |
2: 24,114,486 (GRCm39) |
F120L |
probably damaging |
Het |
Itga4 |
T |
C |
2: 79,150,920 (GRCm39) |
V842A |
probably benign |
Het |
Khsrp |
G |
A |
17: 57,331,366 (GRCm39) |
A404V |
probably benign |
Het |
Map3k11 |
T |
C |
19: 5,740,669 (GRCm39) |
V132A |
probably damaging |
Het |
Mcub |
A |
C |
3: 129,710,646 (GRCm39) |
F262C |
probably benign |
Het |
Msantd5f6 |
G |
T |
4: 73,319,571 (GRCm39) |
Q302K |
probably damaging |
Het |
Mysm1 |
A |
T |
4: 94,836,614 (GRCm39) |
V732E |
probably damaging |
Het |
Or10d5 |
A |
C |
9: 39,861,389 (GRCm39) |
I226S |
probably damaging |
Het |
Or12d12 |
T |
C |
17: 37,610,942 (GRCm39) |
I124V |
probably damaging |
Het |
Or5k1b |
T |
C |
16: 58,580,984 (GRCm39) |
Y185C |
probably damaging |
Het |
Oxgr1 |
G |
T |
14: 120,259,552 (GRCm39) |
Y218* |
probably null |
Het |
Paf1 |
A |
G |
7: 28,095,397 (GRCm39) |
Q161R |
possibly damaging |
Het |
Pck1 |
A |
T |
2: 172,997,878 (GRCm39) |
K316* |
probably null |
Het |
Plac8 |
T |
A |
5: 100,704,371 (GRCm39) |
M109L |
probably benign |
Het |
Plagl2 |
A |
T |
2: 153,074,239 (GRCm39) |
C221S |
probably damaging |
Het |
Polg |
T |
C |
7: 79,103,846 (GRCm39) |
D870G |
probably damaging |
Het |
Polr2k |
T |
A |
15: 36,175,143 (GRCm39) |
M1K |
probably null |
Het |
Prdm9 |
T |
C |
17: 15,775,416 (GRCm39) |
H276R |
probably damaging |
Het |
Resf1 |
C |
A |
6: 149,227,551 (GRCm39) |
P199Q |
possibly damaging |
Het |
Rgs12 |
T |
A |
5: 35,122,664 (GRCm39) |
I149N |
probably damaging |
Het |
Serpina3i |
A |
G |
12: 104,231,914 (GRCm39) |
I184V |
probably benign |
Het |
Shank3 |
A |
G |
15: 89,417,481 (GRCm39) |
E26G |
possibly damaging |
Het |
Skil |
T |
C |
3: 31,171,600 (GRCm39) |
S575P |
probably damaging |
Het |
Slc13a1 |
A |
G |
6: 24,108,158 (GRCm39) |
L306P |
probably damaging |
Het |
Slc20a1 |
G |
T |
2: 129,042,429 (GRCm39) |
W166L |
probably damaging |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Snrnp200 |
G |
T |
2: 127,073,661 (GRCm39) |
G1353V |
probably damaging |
Het |
Spata6l |
A |
T |
19: 28,940,964 (GRCm39) |
V50E |
probably benign |
Het |
Sphkap |
A |
G |
1: 83,258,224 (GRCm39) |
I173T |
probably damaging |
Het |
Stab2 |
A |
T |
10: 86,743,061 (GRCm39) |
F1183I |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,529,707 (GRCm39) |
D1988G |
probably damaging |
Het |
Tank |
T |
A |
2: 61,480,292 (GRCm39) |
I276N |
probably benign |
Het |
Tcaf3 |
A |
G |
6: 42,568,401 (GRCm39) |
W652R |
probably damaging |
Het |
Tgm2 |
G |
A |
2: 157,984,980 (GRCm39) |
T42I |
possibly damaging |
Het |
Tnni2 |
G |
T |
7: 141,997,039 (GRCm39) |
|
probably null |
Het |
Tns1 |
A |
G |
1: 73,992,771 (GRCm39) |
S9P |
probably damaging |
Het |
Tram1 |
T |
C |
1: 13,649,966 (GRCm39) |
Y86C |
probably damaging |
Het |
Trdv2-1 |
T |
C |
14: 54,183,863 (GRCm39) |
S32P |
probably benign |
Het |
Trim24 |
T |
C |
6: 37,934,010 (GRCm39) |
I651T |
probably damaging |
Het |
Trpm3 |
T |
G |
19: 22,674,818 (GRCm39) |
Y72* |
probably null |
Het |
Ube2o |
G |
A |
11: 116,432,285 (GRCm39) |
P894S |
possibly damaging |
Het |
Ubr4 |
C |
T |
4: 139,129,877 (GRCm39) |
R666* |
probably null |
Het |
Ugt1a8 |
T |
A |
1: 88,015,845 (GRCm39) |
L86* |
probably null |
Het |
Usp32 |
T |
A |
11: 84,913,085 (GRCm39) |
N941I |
probably damaging |
Het |
Utrn |
C |
T |
10: 12,512,504 (GRCm39) |
V2322M |
probably damaging |
Het |
Vmn1r184 |
A |
T |
7: 25,967,136 (GRCm39) |
Y294F |
probably damaging |
Het |
Vmn2r108 |
T |
C |
17: 20,691,755 (GRCm39) |
N256S |
probably benign |
Het |
Wdr7 |
T |
C |
18: 63,888,197 (GRCm39) |
S557P |
probably damaging |
Het |
Xrra1 |
C |
A |
7: 99,547,690 (GRCm39) |
P293Q |
possibly damaging |
Het |
Zc3h18 |
A |
G |
8: 123,110,388 (GRCm39) |
D79G |
probably damaging |
Het |
Zfp74 |
A |
T |
7: 29,634,668 (GRCm39) |
Y347N |
probably damaging |
Het |
Zfp740 |
T |
C |
15: 102,121,082 (GRCm39) |
C169R |
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 |
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'- ACCTCAGGGGACATTTGGAGAG -3'
(R):5'- TTTGAGATCTAACCCTGGCCAC -3'
Sequencing Primer
(F):5'- ACATTTGGAGAGTGTTGCTGC -3'
(R):5'- AGTAGCTGTCTTCTGCCC -3'
|
Posted On |
2016-07-22 |