Incidental Mutation 'R0464:Npr2'
| ID |
71410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npr2
|
| Ensembl Gene |
ENSMUSG00000028469 |
| Gene Name |
natriuretic peptide receptor 2 |
| Synonyms |
pwe, guanylyl cyclase-B, cn |
| MMRRC Submission |
038664-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.748)
|
| Stock # |
R0464 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43631935-43651244 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 43640597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030191]
[ENSMUST00000107874]
|
| AlphaFold |
Q6VVW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030191
AA Change: E350V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469
AA Change: E350V
| 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: E350V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469
AA Change: E350V
| 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 null
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 |
0.5678 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.7%
|
| Validation Efficiency |
100% (80/80) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ada |
G |
T |
2: 163,574,884 (GRCm39) |
Y84* |
probably null |
Het |
| Adar |
T |
A |
3: 89,642,889 (GRCm39) |
C257S |
possibly damaging |
Het |
| Adgrd1 |
G |
T |
5: 129,239,714 (GRCm39) |
C507F |
probably damaging |
Het |
| Atp5f1a |
T |
C |
18: 77,867,622 (GRCm39) |
Y299H |
probably benign |
Het |
| Bok |
G |
T |
1: 93,621,935 (GRCm39) |
R77L |
probably damaging |
Het |
| Cdx2 |
C |
A |
5: 147,243,283 (GRCm39) |
K170N |
possibly damaging |
Het |
| Ceacam1 |
A |
G |
7: 25,171,442 (GRCm39) |
S341P |
possibly damaging |
Het |
| Cfhr3 |
A |
T |
1: 139,521,683 (GRCm39) |
|
noncoding transcript |
Het |
| Ckap5 |
A |
G |
2: 91,409,858 (GRCm39) |
I947V |
probably benign |
Het |
| Clec2i |
T |
C |
6: 128,872,386 (GRCm39) |
Y173H |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,408,690 (GRCm39) |
D977G |
possibly damaging |
Het |
| Cyp2f2 |
C |
A |
7: 26,831,962 (GRCm39) |
Q406K |
probably benign |
Het |
| Ddx28 |
A |
G |
8: 106,736,685 (GRCm39) |
S458P |
probably damaging |
Het |
| Dppa3 |
T |
A |
6: 122,605,492 (GRCm39) |
|
probably null |
Het |
| Dusp10 |
C |
A |
1: 183,801,273 (GRCm39) |
L347I |
probably benign |
Het |
| Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
| Fbxl15 |
A |
T |
19: 46,316,951 (GRCm39) |
E13D |
probably benign |
Het |
| Fhit |
T |
A |
14: 10,991,567 (GRCm38) |
|
probably benign |
Het |
| Fras1 |
G |
T |
5: 96,784,662 (GRCm39) |
V882F |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gabbr1 |
C |
T |
17: 37,361,726 (GRCm39) |
|
probably benign |
Het |
| Ganc |
T |
A |
2: 120,267,175 (GRCm39) |
V497D |
probably benign |
Het |
| Glt8d2 |
T |
G |
10: 82,490,564 (GRCm39) |
H242P |
possibly damaging |
Het |
| Gna15 |
T |
C |
10: 81,348,338 (GRCm39) |
Y131C |
probably benign |
Het |
| Gpatch8 |
T |
C |
11: 102,371,712 (GRCm39) |
K609E |
unknown |
Het |
| Gprc5a |
A |
T |
6: 135,056,413 (GRCm39) |
K287* |
probably null |
Het |
| Iqub |
T |
A |
6: 24,479,262 (GRCm39) |
K427* |
probably null |
Het |
| Itpr2 |
C |
G |
6: 146,277,387 (GRCm39) |
D666H |
probably damaging |
Het |
| Kcnj5 |
T |
C |
9: 32,234,269 (GRCm39) |
I15M |
possibly damaging |
Het |
| Kcnn2 |
A |
G |
18: 45,693,426 (GRCm39) |
E334G |
probably damaging |
Het |
| Lypd6 |
T |
A |
2: 50,080,690 (GRCm39) |
I126N |
probably damaging |
Het |
| Ms4a20 |
A |
G |
19: 11,089,801 (GRCm39) |
L28P |
probably damaging |
Het |
| Mtus1 |
T |
C |
8: 41,455,511 (GRCm39) |
D56G |
probably damaging |
Het |
| Myo1h |
A |
G |
5: 114,498,571 (GRCm39) |
D889G |
probably damaging |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Nab1 |
T |
C |
1: 52,529,174 (GRCm39) |
D241G |
possibly damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Ncbp3 |
C |
T |
11: 72,960,647 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
T |
A |
8: 61,525,307 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,447,615 (GRCm39) |
V2452A |
probably benign |
Het |
| Nlrp1b |
A |
C |
11: 71,109,070 (GRCm39) |
S144A |
probably damaging |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
"TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC" |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Paox |
T |
A |
7: 139,709,195 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,462,676 (GRCm39) |
|
probably null |
Het |
| Pde8b |
G |
A |
13: 95,241,206 (GRCm39) |
T202M |
probably damaging |
Het |
| Pigo |
A |
T |
4: 43,019,814 (GRCm39) |
V905D |
probably benign |
Het |
| Pik3cb |
A |
G |
9: 98,926,796 (GRCm39) |
|
probably null |
Het |
| Rassf5 |
T |
C |
1: 131,139,998 (GRCm39) |
N87S |
probably benign |
Het |
| Rbl1 |
C |
A |
2: 156,989,465 (GRCm39) |
K1051N |
probably damaging |
Het |
| Rfx7 |
T |
C |
9: 72,525,486 (GRCm39) |
V892A |
probably damaging |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| Rnf144b |
T |
A |
13: 47,396,363 (GRCm39) |
Y233* |
probably null |
Het |
| Safb |
C |
T |
17: 56,913,025 (GRCm39) |
R914C |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 110,063,783 (GRCm39) |
|
probably benign |
Het |
| Sgo2a |
A |
T |
1: 58,039,253 (GRCm39) |
K85N |
probably damaging |
Het |
| Siglec1 |
A |
T |
2: 130,921,279 (GRCm39) |
C631S |
probably damaging |
Het |
| Simc1 |
C |
T |
13: 54,684,913 (GRCm39) |
R50* |
probably null |
Het |
| Skint5 |
T |
A |
4: 113,392,928 (GRCm39) |
M1235L |
unknown |
Het |
| Slc22a19 |
A |
T |
19: 7,660,278 (GRCm39) |
N377K |
probably benign |
Het |
| Spata31d1a |
A |
G |
13: 59,849,573 (GRCm39) |
F852L |
possibly damaging |
Het |
| Spata31e3 |
A |
G |
13: 50,402,311 (GRCm39) |
|
probably benign |
Het |
| Srbd1 |
G |
A |
17: 86,427,430 (GRCm39) |
S401F |
probably damaging |
Het |
| Stk36 |
C |
A |
1: 74,650,331 (GRCm39) |
Q288K |
probably damaging |
Het |
| Styx |
T |
C |
14: 45,609,908 (GRCm39) |
S191P |
probably benign |
Het |
| Supt6 |
T |
A |
11: 78,107,164 (GRCm39) |
N1214I |
probably benign |
Het |
| Tcim |
T |
A |
8: 24,928,644 (GRCm39) |
D90V |
probably damaging |
Het |
| Tdpoz1 |
T |
A |
3: 93,578,782 (GRCm39) |
M1L |
probably damaging |
Het |
| Tep1 |
T |
A |
14: 51,085,141 (GRCm39) |
T881S |
probably benign |
Het |
| Tlr5 |
C |
T |
1: 182,801,275 (GRCm39) |
A193V |
probably benign |
Het |
| Tmem117 |
T |
A |
15: 94,612,800 (GRCm39) |
F112Y |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,651,375 (GRCm39) |
R1633W |
probably damaging |
Het |
| Trh |
T |
C |
6: 92,220,649 (GRCm39) |
|
probably null |
Het |
| Triobp |
A |
G |
15: 78,851,186 (GRCm39) |
R447G |
possibly damaging |
Het |
| Trip6 |
A |
G |
5: 137,311,943 (GRCm39) |
F46S |
probably damaging |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Usp33 |
T |
C |
3: 152,081,872 (GRCm39) |
|
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,785,255 (GRCm39) |
I156F |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,123,427 (GRCm39) |
|
probably benign |
Het |
| Wdr35 |
G |
T |
12: 9,077,472 (GRCm39) |
|
probably benign |
Het |
| Wwp1 |
C |
T |
4: 19,638,763 (GRCm39) |
|
probably benign |
Het |
| Zfp652 |
T |
C |
11: 95,654,475 (GRCm39) |
C293R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGACTTCCATCCAGGCTACTACC -3'
(R):5'- TGTTCTTGTCCATGACAACCAGTCC -3'
Sequencing Primer
(F):5'- ATCCAGGCTACTACCCTTTGAC -3'
(R):5'- AGTCTCTGCCCACAGTGAC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation