Incidental Mutation 'IGL01116:Npr2'
| ID |
50927 |
| 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 # |
IGL01116
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
43631935-43651244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43640248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 328
(S328P)
|
| 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: S328P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469
AA Change: S328P
| 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 |
possibly damaging
Transcript: ENSMUST00000107874
AA Change: S328P
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469
AA Change: S328P
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,849,911 (GRCm39) |
M951L |
probably benign |
Het |
| Als2 |
T |
C |
1: 59,225,163 (GRCm39) |
|
probably benign |
Het |
| Arhgap26 |
T |
C |
18: 39,244,856 (GRCm39) |
V167A |
probably damaging |
Het |
| Bbs1 |
A |
G |
19: 4,952,867 (GRCm39) |
|
probably benign |
Het |
| Capn11 |
A |
T |
17: 45,949,806 (GRCm39) |
|
probably benign |
Het |
| Cenpl |
G |
T |
1: 160,910,857 (GRCm39) |
S268I |
possibly damaging |
Het |
| Coq8b |
T |
C |
7: 26,939,282 (GRCm39) |
V144A |
possibly damaging |
Het |
| Exo1 |
T |
A |
1: 175,728,963 (GRCm39) |
C10S |
possibly damaging |
Het |
| Fam193b |
A |
T |
13: 55,691,266 (GRCm39) |
S203T |
probably damaging |
Het |
| Ggact |
T |
C |
14: 123,129,167 (GRCm39) |
N16S |
probably damaging |
Het |
| Gm3940 |
A |
T |
1: 52,129,882 (GRCm39) |
|
probably benign |
Het |
| Gm5458 |
G |
T |
14: 19,649,760 (GRCm39) |
L155I |
probably damaging |
Het |
| Golm1 |
T |
C |
13: 59,797,470 (GRCm39) |
K125R |
probably damaging |
Het |
| Gpatch4 |
A |
G |
3: 87,962,312 (GRCm39) |
E175G |
probably damaging |
Het |
| Gria1 |
A |
G |
11: 57,127,801 (GRCm39) |
N337D |
probably damaging |
Het |
| Gripap1 |
G |
A |
X: 7,678,705 (GRCm39) |
G464D |
probably benign |
Het |
| Grk1 |
A |
G |
8: 13,455,404 (GRCm39) |
D96G |
possibly damaging |
Het |
| Hsf1 |
T |
C |
15: 76,382,403 (GRCm39) |
V258A |
probably benign |
Het |
| Ighv7-4 |
A |
G |
12: 114,186,653 (GRCm39) |
S40P |
probably damaging |
Het |
| Igkv4-50 |
G |
A |
6: 69,677,921 (GRCm39) |
S61L |
probably benign |
Het |
| Igkv4-62 |
C |
T |
6: 69,377,035 (GRCm39) |
G38E |
probably damaging |
Het |
| Ints1 |
T |
C |
5: 139,757,437 (GRCm39) |
D358G |
probably damaging |
Het |
| Madd |
A |
G |
2: 90,984,888 (GRCm39) |
|
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,974,439 (GRCm39) |
S580G |
probably damaging |
Het |
| Myef2 |
A |
G |
2: 124,940,402 (GRCm39) |
M383T |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 70,119,730 (GRCm39) |
L930P |
probably damaging |
Het |
| Ndufaf3 |
C |
T |
9: 108,444,068 (GRCm39) |
R20Q |
probably benign |
Het |
| Or1r1 |
A |
T |
11: 73,875,144 (GRCm39) |
C97S |
probably damaging |
Het |
| Or4k15b |
T |
A |
14: 50,272,507 (GRCm39) |
M118L |
probably benign |
Het |
| Pdpr |
T |
C |
8: 111,839,342 (GRCm39) |
I155T |
possibly damaging |
Het |
| Phf11b |
A |
T |
14: 59,560,631 (GRCm39) |
I216K |
probably benign |
Het |
| Phkg1 |
T |
C |
5: 129,893,813 (GRCm39) |
|
probably null |
Het |
| Pik3r6 |
A |
G |
11: 68,422,276 (GRCm39) |
Y225C |
probably benign |
Het |
| Plekhh2 |
A |
T |
17: 84,914,356 (GRCm39) |
D1253V |
possibly damaging |
Het |
| Plppr3 |
T |
C |
10: 79,702,757 (GRCm39) |
T155A |
probably damaging |
Het |
| Ppp6r2 |
T |
C |
15: 89,166,192 (GRCm39) |
F732S |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,799,627 (GRCm39) |
|
probably benign |
Het |
| Slc16a8 |
T |
G |
15: 79,135,432 (GRCm39) |
S459R |
probably damaging |
Het |
| Slc25a12 |
A |
T |
2: 71,123,696 (GRCm39) |
|
probably benign |
Het |
| Slc38a2 |
T |
C |
15: 96,591,066 (GRCm39) |
|
probably benign |
Het |
| Slit1 |
C |
A |
19: 41,594,824 (GRCm39) |
W1182L |
possibly damaging |
Het |
| Snx2 |
C |
T |
18: 53,327,495 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
A |
T |
17: 80,752,929 (GRCm39) |
V335D |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,872,856 (GRCm39) |
D197G |
probably damaging |
Het |
| Ston2 |
G |
T |
12: 91,615,522 (GRCm39) |
N295K |
possibly damaging |
Het |
| Stpg3 |
A |
G |
2: 25,103,191 (GRCm39) |
|
probably benign |
Het |
| Tmem63a |
A |
G |
1: 180,799,654 (GRCm39) |
I675V |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,488,294 (GRCm39) |
L389Q |
probably damaging |
Het |
| Vps13d |
C |
A |
4: 144,699,320 (GRCm39) |
|
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,681,934 (GRCm39) |
D3012E |
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 |
|
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 |
|
|
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 |
2013-06-21 |
Incidental Mutation