Incidental Mutation 'IGL03120:Npr2'
ID |
409929 |
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? |
Possibly essential
(E-score: 0.748)
|
Stock # |
IGL03120
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
43631935-43651244 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 43643133 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 506
(R506C)
|
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: R506C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000030191 Gene: ENSMUSG00000028469 AA Change: R506C
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 damaging
Transcript: ENSMUST00000107874
AA Change: R506C
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103506 Gene: ENSMUSG00000028469 AA Change: R506C
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 |
unknown
Transcript: ENSMUST00000123351
AA Change: R77C
|
SMART Domains |
Protein: ENSMUSP00000117761 Gene: ENSMUSG00000028469 AA Change: R77C
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: R71C
|
SMART Domains |
Protein: ENSMUSP00000114385 Gene: ENSMUSG00000028469 AA Change: R71C
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: ENSMUST00000143160
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144418
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151603
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110059G10Rik |
A |
G |
9: 122,778,118 (GRCm39) |
L42P |
probably benign |
Het |
Cacna1e |
T |
C |
1: 154,319,627 (GRCm39) |
I1420V |
probably damaging |
Het |
Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
Corin |
T |
C |
5: 72,518,032 (GRCm39) |
Y263C |
probably damaging |
Het |
Cyp4f15 |
A |
T |
17: 32,909,738 (GRCm39) |
I112F |
probably damaging |
Het |
Dach1 |
T |
C |
14: 98,065,225 (GRCm39) |
E724G |
probably damaging |
Het |
Dip2b |
T |
C |
15: 100,101,008 (GRCm39) |
|
probably benign |
Het |
Dnah2 |
T |
A |
11: 69,312,674 (GRCm39) |
E4297V |
probably damaging |
Het |
Dot1l |
A |
G |
10: 80,622,107 (GRCm39) |
|
probably benign |
Het |
Endod1 |
C |
A |
9: 14,268,331 (GRCm39) |
V385F |
probably damaging |
Het |
Etnppl |
A |
G |
3: 130,414,341 (GRCm39) |
T73A |
probably damaging |
Het |
Frmd4b |
T |
A |
6: 97,373,206 (GRCm39) |
D104V |
possibly damaging |
Het |
Gp5 |
T |
C |
16: 30,127,016 (GRCm39) |
I553V |
possibly damaging |
Het |
Gpc5 |
A |
G |
14: 115,607,556 (GRCm39) |
E386G |
possibly damaging |
Het |
Hbb-bs |
A |
G |
7: 103,476,985 (GRCm39) |
|
probably benign |
Het |
Klra2 |
T |
A |
6: 131,197,180 (GRCm39) |
Y273F |
probably benign |
Het |
Lrrc37 |
T |
C |
11: 103,507,801 (GRCm39) |
|
probably benign |
Het |
Msto1 |
A |
T |
3: 88,818,116 (GRCm39) |
V366E |
probably damaging |
Het |
Mtcl1 |
A |
G |
17: 66,686,378 (GRCm39) |
S843P |
probably damaging |
Het |
Nhsl2 |
A |
G |
X: 101,114,939 (GRCm39) |
N97S |
probably benign |
Het |
Npm2 |
C |
A |
14: 70,890,039 (GRCm39) |
|
probably benign |
Het |
Olr1 |
T |
C |
6: 129,465,898 (GRCm39) |
E36G |
probably damaging |
Het |
Or56b2 |
A |
T |
7: 104,337,609 (GRCm39) |
Y129F |
probably benign |
Het |
Pcdhb19 |
A |
G |
18: 37,631,209 (GRCm39) |
I335V |
probably benign |
Het |
Pla2g6 |
T |
C |
15: 79,171,060 (GRCm39) |
D772G |
probably damaging |
Het |
Ppfibp1 |
C |
A |
6: 146,899,667 (GRCm39) |
D119E |
probably benign |
Het |
Prdm9 |
T |
C |
17: 15,765,193 (GRCm39) |
N529S |
probably benign |
Het |
Rnf20 |
T |
A |
4: 49,649,955 (GRCm39) |
|
probably benign |
Het |
Spata31h1 |
A |
G |
10: 82,120,869 (GRCm39) |
V77A |
possibly damaging |
Het |
Tmem132c |
T |
A |
5: 127,640,448 (GRCm39) |
V873E |
probably benign |
Het |
Ttn |
T |
C |
2: 76,757,428 (GRCm39) |
|
probably null |
Het |
Vmn2r54 |
A |
G |
7: 12,349,314 (GRCm39) |
I756T |
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 |
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 |
|
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 |