Incidental Mutation 'R4301:Npr2'
| ID |
322406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npr2
|
| Ensembl Gene |
ENSMUSG00000028469 |
| Gene Name |
natriuretic peptide receptor 2 |
| Synonyms |
pwe, cn, guanylyl cyclase-B |
| MMRRC Submission |
041088-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.782)
|
| Stock # |
R4301 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43631935-43651244 bp(+) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 43641332 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030191]
[ENSMUST00000107874]
|
| AlphaFold |
Q6VVW5 |
| Predicted Effect |
probably benign
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 benign
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 null
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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (43/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
A |
16: 56,556,903 (GRCm38) |
V95D |
probably damaging |
Het |
| Adamtsl2 |
A |
G |
2: 27,087,283 (GRCm38) |
D252G |
probably null |
Het |
| Adgra3 |
T |
C |
5: 49,961,078 (GRCm38) |
R1043G |
possibly damaging |
Het |
| Atxn7l1 |
A |
G |
12: 33,367,238 (GRCm38) |
D562G |
probably damaging |
Het |
| Ccdc70 |
T |
C |
8: 21,973,212 (GRCm38) |
V6A |
possibly damaging |
Het |
| Cdc25a |
T |
C |
9: 109,889,742 (GRCm38) |
V337A |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,203,727 (GRCm38) |
P284S |
possibly damaging |
Het |
| Crb1 |
A |
G |
1: 139,248,830 (GRCm38) |
S472P |
probably benign |
Het |
| Fam193b |
G |
A |
13: 55,542,604 (GRCm38) |
R740* |
probably null |
Het |
| Fer |
G |
T |
17: 64,078,910 (GRCm38) |
L292F |
probably damaging |
Het |
| Gmppa |
G |
A |
1: 75,442,496 (GRCm38) |
R349H |
possibly damaging |
Het |
| Hspa1a |
T |
C |
17: 34,970,506 (GRCm38) |
I474V |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 52,725,906 (GRCm38) |
74 |
probably benign |
Het |
| Lrrc30 |
A |
G |
17: 67,632,568 (GRCm38) |
S6P |
probably damaging |
Het |
| Lzts3 |
A |
G |
2: 130,636,438 (GRCm38) |
S133P |
probably damaging |
Het |
| Mkl2 |
T |
C |
16: 13,398,305 (GRCm38) |
Y294H |
probably damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,236,020 (GRCm38) |
F122I |
possibly damaging |
Het |
| Mypn |
A |
G |
10: 63,118,484 (GRCm38) |
Y124H |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 107,355,695 (GRCm38) |
|
probably benign |
Het |
| Olfr1441 |
T |
C |
19: 12,422,717 (GRCm38) |
L136P |
probably damaging |
Het |
| Pgm1 |
G |
A |
5: 64,103,797 (GRCm38) |
W51* |
probably null |
Het |
| Phip |
G |
A |
9: 82,959,713 (GRCm38) |
R48* |
probably null |
Het |
| Piezo2 |
T |
C |
18: 63,084,840 (GRCm38) |
T1075A |
probably damaging |
Het |
| Ppat |
G |
T |
5: 76,928,501 (GRCm38) |
|
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 42,898,746 (GRCm38) |
E23D |
probably null |
Het |
| Prickle1 |
T |
C |
15: 93,508,636 (GRCm38) |
I169V |
possibly damaging |
Het |
| Rab37 |
T |
A |
11: 115,158,564 (GRCm38) |
D95E |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,751,470 (GRCm38) |
V50A |
probably benign |
Het |
| Siae |
C |
A |
9: 37,633,713 (GRCm38) |
Q335K |
possibly damaging |
Het |
| Snx14 |
A |
T |
9: 88,410,623 (GRCm38) |
I217K |
probably damaging |
Het |
| Son |
A |
G |
16: 91,658,411 (GRCm38) |
T1349A |
possibly damaging |
Het |
| Sptb |
A |
G |
12: 76,612,697 (GRCm38) |
L1143S |
probably damaging |
Het |
| Trim80 |
T |
C |
11: 115,445,113 (GRCm38) |
|
probably null |
Het |
| Trpm3 |
T |
C |
19: 22,987,292 (GRCm38) |
S1374P |
probably benign |
Het |
| Vldlr |
C |
A |
19: 27,238,402 (GRCm38) |
D266E |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 87,001,891 (GRCm38) |
H166R |
possibly damaging |
Het |
| Zbtb10 |
A |
T |
3: 9,265,160 (GRCm38) |
Q526L |
probably damaging |
Het |
| Zfr2 |
T |
C |
10: 81,242,184 (GRCm38) |
|
probably benign |
Het |
| Zswim8 |
G |
A |
14: 20,713,909 (GRCm38) |
R449H |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,889,035 (GRCm38) |
V1878A |
probably 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 |
|
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 |
|
R6925:Npr2
|
UTSW |
4 |
43,647,553 (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'- GACAGAATCCTTTGCTCTGGGG -3'
(R):5'- CCCTGAGAAAGACTGGAGTG -3'
Sequencing Primer
(F):5'- TGCTGGGCCTTCATCACG -3'
(R):5'- ACTGGAGTGGCTGAGGGC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation