Incidental Mutation 'R2106:Npr2'
| ID |
230941 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npr2
|
| Ensembl Gene |
ENSMUSG00000028469 |
| Gene Name |
natriuretic peptide receptor 2 |
| Synonyms |
pwe, guanylyl cyclase-B, cn |
| MMRRC Submission |
040110-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.748)
|
| Stock # |
R2106 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43631935-43651244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43644329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 613
(I613F)
|
| 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: I613F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469
AA Change: I613F
| 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: I613F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469
AA Change: I613F
| 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: I159F
|
| SMART Domains |
Protein: ENSMUSP00000117761
Gene: ENSMUSG00000028469
AA Change: I159F
| 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: I178F
|
| SMART Domains |
Protein: ENSMUSP00000114385
Gene: ENSMUSG00000028469
AA Change: I178F
| 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: ENSMUST00000144418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145817
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151603
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
T |
C |
2: 26,992,837 (GRCm39) |
F650S |
probably benign |
Het |
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| Akr1c13 |
T |
A |
13: 4,248,593 (GRCm39) |
V266E |
probably damaging |
Het |
| Ankrd61 |
A |
T |
5: 143,828,564 (GRCm39) |
L95Q |
probably damaging |
Het |
| Atp11a |
A |
G |
8: 12,885,228 (GRCm39) |
T22A |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,415,803 (GRCm39) |
V777A |
possibly damaging |
Het |
| Ccdc40 |
G |
T |
11: 119,155,123 (GRCm39) |
R1121L |
probably damaging |
Het |
| Cdhr4 |
A |
C |
9: 107,874,693 (GRCm39) |
S588R |
possibly damaging |
Het |
| Cfap69 |
T |
C |
5: 5,645,979 (GRCm39) |
N517D |
probably benign |
Het |
| Chrm2 |
T |
C |
6: 36,500,382 (GRCm39) |
Y80H |
probably damaging |
Het |
| Cimip2a |
A |
G |
2: 25,110,663 (GRCm39) |
Y157C |
probably damaging |
Het |
| Csgalnact2 |
G |
T |
6: 118,086,090 (GRCm39) |
Y534* |
probably null |
Het |
| Defb35 |
A |
G |
8: 22,430,809 (GRCm39) |
E61G |
unknown |
Het |
| Dhx15 |
A |
T |
5: 52,327,428 (GRCm39) |
D95E |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,582,792 (GRCm39) |
V271A |
probably damaging |
Het |
| Dlg1 |
T |
C |
16: 31,631,574 (GRCm39) |
S444P |
probably damaging |
Het |
| Edem1 |
T |
A |
6: 108,825,686 (GRCm39) |
N406K |
probably damaging |
Het |
| Eif4g3 |
A |
T |
4: 137,810,230 (GRCm39) |
|
probably benign |
Het |
| Epb41 |
A |
G |
4: 131,717,152 (GRCm39) |
I56T |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,034,578 (GRCm39) |
Y1442* |
probably null |
Het |
| Fat2 |
T |
C |
11: 55,147,390 (GRCm39) |
T3951A |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,255,674 (GRCm39) |
S786P |
probably damaging |
Het |
| Fyb2 |
A |
G |
4: 104,802,769 (GRCm39) |
T224A |
probably benign |
Het |
| Ginm1 |
A |
T |
10: 7,651,090 (GRCm39) |
F105L |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,426,939 (GRCm39) |
V688A |
probably benign |
Het |
| Hnmt |
T |
G |
2: 23,909,130 (GRCm39) |
Q94H |
probably benign |
Het |
| Ice1 |
A |
G |
13: 70,753,741 (GRCm39) |
Y782H |
probably benign |
Het |
| Immt |
T |
C |
6: 71,848,499 (GRCm39) |
V418A |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kif1b |
G |
A |
4: 149,272,097 (GRCm39) |
S1568L |
possibly damaging |
Het |
| Krt84 |
T |
C |
15: 101,439,301 (GRCm39) |
N248D |
probably damaging |
Het |
| Lig1 |
C |
A |
7: 13,039,863 (GRCm39) |
R692S |
probably damaging |
Het |
| Lvrn |
G |
T |
18: 47,011,356 (GRCm39) |
A438S |
probably damaging |
Het |
| Mast4 |
C |
T |
13: 102,887,054 (GRCm39) |
V1204I |
probably damaging |
Het |
| Med21 |
G |
T |
6: 146,550,710 (GRCm39) |
D74Y |
probably damaging |
Het |
| Nat8 |
T |
C |
6: 85,807,506 (GRCm39) |
D209G |
probably benign |
Het |
| Nipal1 |
C |
A |
5: 72,820,902 (GRCm39) |
F132L |
probably damaging |
Het |
| Nrcam |
A |
G |
12: 44,617,073 (GRCm39) |
T706A |
probably benign |
Het |
| Or5w1b |
A |
G |
2: 87,475,895 (GRCm39) |
S191P |
probably damaging |
Het |
| Or8w1 |
T |
C |
2: 87,465,503 (GRCm39) |
E196G |
probably benign |
Het |
| Pam |
A |
G |
1: 97,759,215 (GRCm39) |
V823A |
probably damaging |
Het |
| Pdik1l |
A |
T |
4: 134,011,565 (GRCm39) |
Y93N |
probably damaging |
Het |
| Perm1 |
T |
C |
4: 156,303,336 (GRCm39) |
W627R |
probably damaging |
Het |
| Pofut1 |
G |
A |
2: 153,101,713 (GRCm39) |
|
probably null |
Het |
| Prmt5 |
T |
C |
14: 54,745,374 (GRCm39) |
I598V |
probably benign |
Het |
| Rab11fip5 |
T |
C |
6: 85,351,369 (GRCm39) |
I48V |
probably damaging |
Het |
| Rad51d |
T |
A |
11: 82,770,134 (GRCm39) |
K261N |
probably damaging |
Het |
| Rapgef6 |
T |
G |
11: 54,559,512 (GRCm39) |
I1050S |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,468,474 (GRCm39) |
E4688G |
probably damaging |
Het |
| Siva1 |
G |
T |
12: 112,613,440 (GRCm39) |
R96L |
probably damaging |
Het |
| Slc13a4 |
T |
C |
6: 35,264,799 (GRCm39) |
N140S |
probably damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,028,542 (GRCm39) |
D342V |
probably damaging |
Het |
| Slfn9 |
A |
G |
11: 82,878,506 (GRCm39) |
S208P |
possibly damaging |
Het |
| Sspo |
C |
A |
6: 48,443,250 (GRCm39) |
T1899N |
possibly damaging |
Het |
| Sytl1 |
T |
C |
4: 132,984,774 (GRCm39) |
D200G |
probably benign |
Het |
| Tas2r118 |
T |
C |
6: 23,969,569 (GRCm39) |
N164S |
probably benign |
Het |
| Tbc1d17 |
A |
G |
7: 44,497,692 (GRCm39) |
|
probably null |
Het |
| Tex14 |
T |
C |
11: 87,377,076 (GRCm39) |
M140T |
possibly damaging |
Het |
| Tm6sf2 |
T |
C |
8: 70,532,396 (GRCm39) |
F352S |
probably benign |
Het |
| Tmem88 |
A |
G |
11: 69,288,685 (GRCm39) |
L78P |
probably benign |
Het |
| Trafd1 |
A |
G |
5: 121,511,274 (GRCm39) |
S515P |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,790,714 (GRCm39) |
E583V |
possibly damaging |
Het |
| Ttc23l |
A |
G |
15: 10,547,342 (GRCm39) |
C91R |
probably damaging |
Het |
| Ubap1l |
T |
C |
9: 65,281,089 (GRCm39) |
S256P |
probably benign |
Het |
| Vmn1r26 |
T |
G |
6: 57,985,710 (GRCm39) |
S160R |
possibly damaging |
Het |
| Vmn2r97 |
A |
G |
17: 19,168,100 (GRCm39) |
S785G |
probably damaging |
Het |
| Wdr27 |
T |
G |
17: 15,141,116 (GRCm39) |
R278S |
probably benign |
Het |
| Wdr7 |
T |
C |
18: 63,911,109 (GRCm39) |
S834P |
probably damaging |
Het |
| Zdhhc12 |
C |
T |
2: 29,981,814 (GRCm39) |
C116Y |
probably damaging |
Het |
| Zfp946 |
T |
C |
17: 22,672,466 (GRCm39) |
F22L |
probably benign |
Het |
| Zfp948 |
G |
T |
17: 21,807,953 (GRCm39) |
E382* |
probably null |
Het |
| Zfp956 |
T |
A |
6: 47,941,359 (GRCm39) |
*573K |
probably null |
Het |
| Zim1 |
T |
G |
7: 6,681,073 (GRCm39) |
T197P |
probably benign |
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 |
|
R2054:Npr2
|
UTSW |
4 |
43,646,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- ATCTTACTCGCTTCATCGGAG -3'
(R):5'- ACATAGGACCGCTGCATCAC -3'
Sequencing Primer
(F):5'- TTCATCGGAGCCTGCATAGAC -3'
(R):5'- TGCATCACCCAGTCACGG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation