Incidental Mutation 'R2054:Npr2'
| ID |
226504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npr2
|
| Ensembl Gene |
ENSMUSG00000028469 |
| Gene Name |
natriuretic peptide receptor 2 |
| Synonyms |
pwe, guanylyl cyclase-B, cn |
| MMRRC Submission |
040059-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.778)
|
| Stock # |
R2054 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43631935-43651244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43646560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 636
(N636I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030191]
[ENSMUST00000084646]
[ENSMUST00000107874]
|
| AlphaFold |
Q6VVW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030191
AA Change: N636I
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469
AA Change: N636I
| 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: 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 |
possibly damaging
Transcript: ENSMUST00000107874
AA Change: N636I
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469
AA Change: N636I
| 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 |
unknown
Transcript: ENSMUST00000128549
AA Change: N201I
|
| SMART Domains |
Protein: ENSMUSP00000114385
Gene: ENSMUSG00000028469
AA Change: N201I
| 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: ENSMUST00000151603
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145817
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143160
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149575
|
| Meta Mutation Damage Score |
0.7114 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
99% (67/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
A |
T |
11: 99,728,562 (GRCm39) |
C94S |
possibly damaging |
Het |
| A930011G23Rik |
T |
C |
5: 99,375,914 (GRCm39) |
Y432C |
probably benign |
Het |
| Abtb2 |
A |
G |
2: 103,535,462 (GRCm39) |
D543G |
probably benign |
Het |
| Adam9 |
A |
T |
8: 25,481,310 (GRCm39) |
V318E |
probably damaging |
Het |
| Aim2 |
T |
C |
1: 173,291,548 (GRCm39) |
F318L |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,063,134 (GRCm39) |
D3872V |
probably damaging |
Het |
| Atat1 |
T |
A |
17: 36,212,261 (GRCm39) |
R323W |
probably null |
Het |
| Atp2b4 |
T |
C |
1: 133,642,907 (GRCm39) |
D1066G |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,002,002 (GRCm39) |
T1316A |
probably benign |
Het |
| Caskin2 |
T |
C |
11: 115,697,127 (GRCm39) |
|
probably benign |
Het |
| Cblif |
G |
A |
19: 11,736,370 (GRCm39) |
V314I |
probably benign |
Het |
| Ccdc54 |
T |
A |
16: 50,410,987 (GRCm39) |
N93I |
probably damaging |
Het |
| Ccnd1 |
A |
C |
7: 144,491,128 (GRCm39) |
D159E |
possibly damaging |
Het |
| Cnot1 |
A |
C |
8: 96,466,469 (GRCm39) |
S1589R |
possibly damaging |
Het |
| Copa |
T |
A |
1: 171,946,524 (GRCm39) |
Y980* |
probably null |
Het |
| Defb19 |
A |
G |
2: 152,418,090 (GRCm39) |
I82T |
possibly damaging |
Het |
| Elapor2 |
C |
A |
5: 9,513,030 (GRCm39) |
T1008K |
possibly damaging |
Het |
| Fiz1 |
G |
A |
7: 5,011,235 (GRCm39) |
R428C |
probably damaging |
Het |
| Fnip2 |
A |
T |
3: 79,479,772 (GRCm39) |
|
probably benign |
Het |
| Gabrb3 |
G |
A |
7: 57,474,241 (GRCm39) |
G408S |
probably benign |
Het |
| Hao1 |
C |
T |
2: 134,340,178 (GRCm39) |
|
silent |
Het |
| Hecw1 |
T |
A |
13: 14,471,998 (GRCm39) |
M557L |
probably damaging |
Het |
| Itch |
A |
T |
2: 155,052,496 (GRCm39) |
I699F |
probably damaging |
Het |
| Kmt2a |
T |
C |
9: 44,734,671 (GRCm39) |
|
probably benign |
Het |
| Leng8 |
T |
G |
7: 4,147,289 (GRCm39) |
Y562* |
probably null |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,587,494 (GRCm39) |
N151K |
unknown |
Het |
| Lrrc71 |
T |
C |
3: 87,649,980 (GRCm39) |
E316G |
probably damaging |
Het |
| Mgat5 |
A |
G |
1: 127,325,344 (GRCm39) |
N404D |
probably damaging |
Het |
| Mrps26 |
C |
A |
2: 130,406,087 (GRCm39) |
T100K |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,547,309 (GRCm39) |
T431A |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,550,482 (GRCm39) |
C713S |
probably benign |
Het |
| Mug2 |
A |
G |
6: 122,054,451 (GRCm39) |
K1077E |
probably damaging |
Het |
| Nbas |
A |
G |
12: 13,524,207 (GRCm39) |
T1688A |
probably benign |
Het |
| Nek2 |
T |
C |
1: 191,553,764 (GRCm39) |
S3P |
possibly damaging |
Het |
| Nell2 |
T |
C |
15: 95,332,990 (GRCm39) |
T190A |
probably benign |
Het |
| Orc3 |
A |
T |
4: 34,584,846 (GRCm39) |
I453K |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,980,448 (GRCm39) |
H865R |
probably benign |
Het |
| Pex1 |
T |
C |
5: 3,653,341 (GRCm39) |
V80A |
possibly damaging |
Het |
| Phka2 |
T |
A |
X: 159,337,323 (GRCm39) |
D424E |
probably damaging |
Het |
| Pkd1 |
C |
T |
17: 24,793,770 (GRCm39) |
T1819I |
probably benign |
Het |
| Poglut1 |
T |
C |
16: 38,355,169 (GRCm39) |
D219G |
probably damaging |
Het |
| Ppargc1a |
T |
C |
5: 51,631,130 (GRCm39) |
I500V |
possibly damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Pygm |
C |
G |
19: 6,438,185 (GRCm39) |
N163K |
probably benign |
Het |
| Qrich1 |
T |
A |
9: 108,436,469 (GRCm39) |
N722K |
possibly damaging |
Het |
| Reep6 |
T |
A |
10: 80,166,156 (GRCm39) |
C104* |
probably null |
Het |
| Rfx8 |
A |
G |
1: 39,724,719 (GRCm39) |
V214A |
possibly damaging |
Het |
| Sis |
G |
A |
3: 72,820,570 (GRCm39) |
T1398I |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,676,360 (GRCm39) |
|
probably null |
Het |
| Slc7a14 |
A |
G |
3: 31,291,511 (GRCm39) |
|
probably benign |
Het |
| Smc2 |
T |
A |
4: 52,462,948 (GRCm39) |
M646K |
probably benign |
Het |
| Snx29 |
A |
G |
16: 11,449,356 (GRCm39) |
N165S |
probably damaging |
Het |
| Supt6 |
T |
A |
11: 78,115,187 (GRCm39) |
|
probably benign |
Het |
| Tead4 |
G |
T |
6: 128,247,925 (GRCm39) |
S37R |
probably damaging |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tex56 |
T |
A |
13: 35,108,574 (GRCm39) |
Y19N |
probably damaging |
Het |
| Tff2 |
T |
C |
17: 31,362,199 (GRCm39) |
K40E |
probably benign |
Het |
| Traip |
C |
T |
9: 107,840,118 (GRCm39) |
T265M |
probably benign |
Het |
| Trim47 |
T |
C |
11: 115,999,109 (GRCm39) |
T256A |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,890,303 (GRCm39) |
M853V |
possibly damaging |
Het |
| Tti1 |
G |
T |
2: 157,849,365 (GRCm39) |
Q625K |
possibly damaging |
Het |
| Ube2n |
A |
G |
10: 95,377,128 (GRCm39) |
N31S |
probably damaging |
Het |
| Vmn2r17 |
T |
C |
5: 109,600,352 (GRCm39) |
M550T |
probably damaging |
Het |
| Zfp512 |
T |
A |
5: 31,622,793 (GRCm39) |
N31K |
probably benign |
Het |
| Zfp64 |
A |
G |
2: 168,767,728 (GRCm39) |
V628A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGGGAAGTGATGGCTTTC -3'
(R):5'- ACCAAGGCTTGAAGGGTGAC -3'
Sequencing Primer
(F):5'- TCCAGTCGAGGCTCTACAG -3'
(R):5'- CTTGAAGGGTGACATAAAAGGTAGGC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation