Incidental Mutation 'IGL03351:Npr2'
| ID |
419720 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Npr2
|
| Ensembl Gene |
ENSMUSG00000028469 |
| Gene Name |
natriuretic peptide receptor 2 |
| Synonyms |
pwe, guanylyl cyclase-B, cn |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.778)
|
| Stock # |
IGL03351
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
43631935-43651244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 43640652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 368
(M368I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030191]
[ENSMUST00000107874]
|
| AlphaFold |
Q6VVW5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030191
AA Change: M368I
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469
AA Change: M368I
| 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: M368I
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469
AA Change: M368I
| 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 |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,561,427 (GRCm39) |
D251E |
probably benign |
Het |
| 5730460C07Rik |
C |
T |
3: 153,495,595 (GRCm39) |
|
noncoding transcript |
Het |
| Coch |
G |
A |
12: 51,649,989 (GRCm39) |
R326Q |
probably benign |
Het |
| Cpa3 |
A |
G |
3: 20,270,126 (GRCm39) |
V366A |
probably benign |
Het |
| Csf1r |
C |
T |
18: 61,250,180 (GRCm39) |
Q382* |
probably null |
Het |
| Csta1 |
C |
A |
16: 35,951,411 (GRCm39) |
G4* |
probably null |
Het |
| Cts7 |
T |
C |
13: 61,504,417 (GRCm39) |
R49G |
probably damaging |
Het |
| Dlg5 |
A |
G |
14: 24,220,522 (GRCm39) |
V575A |
probably benign |
Het |
| Ero1a |
G |
T |
14: 45,531,990 (GRCm39) |
N227K |
probably benign |
Het |
| Faap24 |
G |
T |
7: 35,094,734 (GRCm39) |
C58* |
probably null |
Het |
| Hfm1 |
G |
A |
5: 107,059,441 (GRCm39) |
Q194* |
probably null |
Het |
| Hs3st5 |
T |
A |
10: 36,709,319 (GRCm39) |
Y285N |
probably damaging |
Het |
| Hyal6 |
G |
A |
6: 24,743,428 (GRCm39) |
G375R |
probably damaging |
Het |
| Itgb5 |
T |
C |
16: 33,730,922 (GRCm39) |
S93P |
probably benign |
Het |
| Kcnj6 |
A |
T |
16: 94,633,442 (GRCm39) |
M205K |
probably damaging |
Het |
| Kdm6a |
C |
T |
X: 18,113,343 (GRCm39) |
Q92* |
probably null |
Het |
| Klhl38 |
A |
G |
15: 58,186,726 (GRCm39) |
M1T |
probably null |
Het |
| Krtap7-1 |
T |
C |
16: 89,304,884 (GRCm39) |
|
probably benign |
Het |
| L1cam |
T |
C |
X: 72,906,634 (GRCm39) |
T270A |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,598,015 (GRCm39) |
N45S |
probably benign |
Het |
| Magea13 |
G |
A |
X: 57,964,297 (GRCm39) |
V19I |
probably benign |
Het |
| Mmp2 |
A |
G |
8: 93,565,970 (GRCm39) |
I424V |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,194,739 (GRCm39) |
Q1650R |
possibly damaging |
Het |
| Naalad2 |
T |
A |
9: 18,275,483 (GRCm39) |
E313V |
possibly damaging |
Het |
| Nipsnap3a |
A |
G |
4: 52,994,134 (GRCm39) |
T74A |
probably benign |
Het |
| Nup58 |
T |
C |
14: 60,466,224 (GRCm39) |
T445A |
probably benign |
Het |
| Or14a256 |
A |
G |
7: 86,264,885 (GRCm39) |
Y323H |
possibly damaging |
Het |
| Or52r1b |
A |
G |
7: 102,691,337 (GRCm39) |
D212G |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,662,606 (GRCm39) |
T73A |
probably benign |
Het |
| Pole |
A |
G |
5: 110,449,864 (GRCm39) |
|
probably benign |
Het |
| Ppp2r3d |
C |
T |
9: 101,088,391 (GRCm39) |
G644D |
probably benign |
Het |
| Pramel23 |
G |
A |
4: 143,423,658 (GRCm39) |
T377I |
possibly damaging |
Het |
| Ptprb |
T |
C |
10: 116,175,487 (GRCm39) |
Y1161H |
probably benign |
Het |
| Ptprs |
T |
A |
17: 56,744,943 (GRCm39) |
K264N |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 157,020,311 (GRCm39) |
|
probably benign |
Het |
| Serpina6 |
A |
T |
12: 103,613,172 (GRCm39) |
I376N |
probably damaging |
Het |
| Setx |
T |
G |
2: 29,051,811 (GRCm39) |
I2062M |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,363,531 (GRCm39) |
D99G |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,119,401 (GRCm39) |
|
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,451,154 (GRCm39) |
Y309H |
probably damaging |
Het |
| Trappc10 |
T |
C |
10: 78,024,595 (GRCm39) |
D1178G |
probably damaging |
Het |
| Trav5-1 |
G |
A |
14: 52,860,302 (GRCm39) |
E36K |
probably damaging |
Het |
| Vmn1r237 |
T |
C |
17: 21,535,099 (GRCm39) |
V274A |
probably benign |
Het |
| Vmn1r29 |
A |
T |
6: 58,284,735 (GRCm39) |
S152C |
probably damaging |
Het |
| Washc5 |
C |
A |
15: 59,235,199 (GRCm39) |
|
probably benign |
Het |
| Zfp369 |
T |
G |
13: 65,443,967 (GRCm39) |
L370R |
possibly damaging |
Het |
| Zfp750 |
T |
C |
11: 121,404,173 (GRCm39) |
Y234C |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation