Incidental Mutation 'R5546:Npr2'
| ID |
501185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npr2
|
| Ensembl Gene |
ENSMUSG00000028469 |
| Gene Name |
natriuretic peptide receptor 2 |
| Synonyms |
pwe, guanylyl cyclase-B, cn |
| MMRRC Submission |
043104-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.748)
|
| Stock # |
R5546 (G1)
|
| Quality Score |
210 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43631935-43651244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 43650150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 905
(V905G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030191]
[ENSMUST00000030192]
[ENSMUST00000084646]
[ENSMUST00000107870]
[ENSMUST00000107874]
|
| AlphaFold |
Q6VVW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030191
AA Change: V905G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469
AA Change: V905G
| 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: ENSMUST00000030192
|
| SMART Domains |
Protein: ENSMUSP00000030192
Gene: ENSMUSG00000028470
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:DcpS_C
|
53 |
159 |
7.1e-25 |
PFAM |
|
Pfam:HIT
|
61 |
158 |
1.5e-30 |
PFAM |
|
| 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: V905G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469
AA Change: V905G
| 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 |
noncoding transcript
Transcript: ENSMUST00000123883
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000128549
AA Change: V470G
|
| SMART Domains |
Protein: ENSMUSP00000114385
Gene: ENSMUSG00000028469
AA Change: V470G
| 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: ENSMUST00000145817
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151603
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151514
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155985
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134082
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151238
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149575
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| 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 |
|---|
| Actl11 |
A |
G |
9: 107,806,832 (GRCm39) |
N385S |
probably benign |
Het |
| Ahctf1 |
A |
T |
1: 179,581,633 (GRCm39) |
I1523N |
probably benign |
Het |
| Akna |
C |
T |
4: 63,313,196 (GRCm39) |
G309E |
probably benign |
Het |
| Akna |
T |
C |
4: 63,313,803 (GRCm39) |
N107D |
probably benign |
Het |
| Arhgef15 |
G |
A |
11: 68,844,877 (GRCm39) |
P240L |
probably benign |
Het |
| Brd1 |
T |
A |
15: 88,585,325 (GRCm39) |
E836D |
probably benign |
Het |
| Brf2 |
A |
G |
8: 27,614,311 (GRCm39) |
S292P |
possibly damaging |
Het |
| C3 |
A |
G |
17: 57,529,976 (GRCm39) |
L500P |
probably damaging |
Het |
| Cblif |
T |
C |
19: 11,725,859 (GRCm39) |
S50P |
possibly damaging |
Het |
| Ccdc107 |
T |
C |
4: 43,495,685 (GRCm39) |
L196P |
probably damaging |
Het |
| Cdcp1 |
G |
T |
9: 123,007,094 (GRCm39) |
P551Q |
probably damaging |
Het |
| Ckap5 |
T |
C |
2: 91,425,161 (GRCm39) |
L1224P |
probably damaging |
Het |
| Csnk1g2 |
C |
A |
10: 80,474,232 (GRCm39) |
T178K |
probably benign |
Het |
| Ctsq |
A |
T |
13: 61,185,702 (GRCm39) |
C146* |
probably null |
Het |
| Cyp2ab1 |
T |
A |
16: 20,132,507 (GRCm39) |
I264F |
probably damaging |
Het |
| Daxx |
TGATGATGACGATGATGACGATGATGA |
TGATGATGACGATGATGA |
17: 34,131,615 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
G |
A |
12: 117,939,583 (GRCm39) |
T3179M |
possibly damaging |
Het |
| Dnah7c |
A |
T |
1: 46,705,477 (GRCm39) |
T2497S |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,193,989 (GRCm39) |
V776A |
probably damaging |
Het |
| Erbb4 |
G |
T |
1: 68,337,452 (GRCm39) |
T622N |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,526,218 (GRCm39) |
Y595H |
probably benign |
Het |
| Fam107a |
C |
T |
14: 8,298,764 (GRCm38) |
A121T |
probably benign |
Het |
| Gpatch11 |
C |
T |
17: 79,149,548 (GRCm39) |
Q183* |
probably null |
Het |
| Gpr161 |
C |
A |
1: 165,133,982 (GRCm39) |
F81L |
possibly damaging |
Het |
| Hook1 |
G |
T |
4: 95,890,765 (GRCm39) |
E291D |
probably benign |
Het |
| Hsf2bp |
T |
A |
17: 32,165,669 (GRCm39) |
I309F |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,275,485 (GRCm39) |
|
probably null |
Het |
| Ide |
T |
G |
19: 37,249,623 (GRCm39) |
M910L |
unknown |
Het |
| Igdcc4 |
A |
G |
9: 65,036,077 (GRCm39) |
Y712C |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,750,949 (GRCm39) |
|
probably benign |
Het |
| Lats1 |
T |
C |
10: 7,581,518 (GRCm39) |
Y768H |
probably damaging |
Het |
| Mageb3 |
A |
G |
2: 121,784,868 (GRCm39) |
V278A |
probably damaging |
Het |
| Mapkbp1 |
G |
A |
2: 119,849,724 (GRCm39) |
R732H |
probably damaging |
Het |
| Marveld2 |
T |
C |
13: 100,737,446 (GRCm39) |
I148V |
probably benign |
Het |
| Mast1 |
G |
C |
8: 85,642,889 (GRCm39) |
P969A |
probably damaging |
Het |
| Myh10 |
T |
G |
11: 68,689,206 (GRCm39) |
V1261G |
possibly damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,108,102 (GRCm39) |
H466Q |
probably benign |
Het |
| Oip5 |
T |
A |
2: 119,440,808 (GRCm39) |
I240F |
unknown |
Het |
| Or4c12 |
A |
G |
2: 89,773,929 (GRCm39) |
C177R |
probably damaging |
Het |
| Or5k8 |
G |
T |
16: 58,644,516 (GRCm39) |
Y185* |
probably null |
Het |
| Or8b12 |
T |
A |
9: 37,657,820 (GRCm39) |
M130K |
probably benign |
Het |
| Pcsk2 |
G |
A |
2: 143,388,480 (GRCm39) |
A24T |
probably benign |
Het |
| Plxnb1 |
G |
T |
9: 108,929,818 (GRCm39) |
G225W |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,906,350 (GRCm39) |
S389P |
possibly damaging |
Het |
| Prkca |
A |
G |
11: 107,944,806 (GRCm39) |
V175A |
probably benign |
Het |
| Rassf7 |
C |
A |
7: 140,796,973 (GRCm39) |
|
probably null |
Het |
| Rbl2 |
A |
G |
8: 91,805,560 (GRCm39) |
I206V |
probably benign |
Het |
| Rnf111 |
A |
T |
9: 70,366,378 (GRCm39) |
H353Q |
probably benign |
Het |
| Rpn1 |
T |
G |
6: 88,070,841 (GRCm39) |
V237G |
probably damaging |
Het |
| Sec61a2 |
T |
A |
2: 5,881,351 (GRCm39) |
I267F |
possibly damaging |
Het |
| Spop |
G |
T |
11: 95,376,669 (GRCm39) |
V241F |
probably damaging |
Het |
| Sptbn2 |
C |
T |
19: 4,775,978 (GRCm39) |
A178V |
probably damaging |
Het |
| Stard13 |
A |
G |
5: 150,969,366 (GRCm39) |
Y791H |
probably benign |
Het |
| Susd2 |
T |
A |
10: 75,478,052 (GRCm39) |
I113L |
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,964,628 (GRCm39) |
E666G |
possibly damaging |
Het |
| Tekt5 |
G |
T |
16: 10,179,254 (GRCm39) |
A371E |
possibly damaging |
Het |
| Thap11 |
G |
A |
8: 106,582,548 (GRCm39) |
E186K |
probably damaging |
Het |
| Tk2 |
A |
T |
8: 104,974,315 (GRCm39) |
D45E |
possibly damaging |
Het |
| Tuba8 |
C |
A |
6: 121,199,872 (GRCm39) |
Y185* |
probably null |
Het |
| Usp24 |
T |
A |
4: 106,273,244 (GRCm39) |
Y2210N |
probably damaging |
Het |
| Wfdc8 |
A |
T |
2: 164,439,239 (GRCm39) |
|
probably benign |
Het |
| Zar1l |
T |
C |
5: 150,436,365 (GRCm39) |
N237S |
probably damaging |
Het |
| Zfp607b |
A |
T |
7: 27,402,032 (GRCm39) |
T163S |
probably benign |
Het |
| Zfp619 |
C |
A |
7: 39,184,577 (GRCm39) |
H202Q |
probably benign |
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 |
|
|
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'- AGACAGCTGGAGATGACCTC -3'
(R):5'- ATGGACACCTATGCGTAACCTC -3'
Sequencing Primer
(F):5'- ACCTATCTGAGTATGTGCCACATGG -3'
(R):5'- TATGCGTAACCTCAGCTGGTCATG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation