Incidental Mutation 'IGL02442:Gucy1a2'
| ID |
293463 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gucy1a2
|
| Ensembl Gene |
ENSMUSG00000041624 |
| Gene Name |
guanylate cyclase 1, soluble, alpha 2 |
| Synonyms |
6330407I18Rik, A230060L24Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.323)
|
| Stock # |
IGL02442
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
3532778-3894736 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3865385 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 620
(V620M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115733]
|
| AlphaFold |
F8VQK3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115733
AA Change: V620M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111398
Gene: ENSMUSG00000041624
AA Change: V620M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
72 |
N/A |
INTRINSIC |
|
Pfam:HNOB
|
121 |
268 |
3e-19 |
PFAM |
|
PDB:4GJ4|D
|
316 |
441 |
1e-17 |
PDB |
|
CYCc
|
483 |
674 |
6.58e-93 |
SMART |
|
low complexity region
|
701 |
715 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null mutation display normal blood vessel and platelet physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006E09Rik |
T |
C |
11: 101,990,826 (GRCm38) |
V116A |
probably benign |
Het |
| Adap2 |
A |
G |
11: 80,177,206 (GRCm38) |
E348G |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 9,004,016 (GRCm38) |
G888D |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,798,729 (GRCm38) |
M200I |
probably benign |
Het |
| Csde1 |
T |
C |
3: 103,054,819 (GRCm38) |
C649R |
probably benign |
Het |
| Cym |
A |
C |
3: 107,214,285 (GRCm38) |
D230E |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,287,878 (GRCm38) |
I1911N |
probably damaging |
Het |
| Fam60a |
A |
T |
6: 148,928,507 (GRCm38) |
|
probably null |
Het |
| Fat1 |
A |
G |
8: 44,950,323 (GRCm38) |
H37R |
probably benign |
Het |
| Ggt6 |
T |
C |
11: 72,436,806 (GRCm38) |
V146A |
possibly damaging |
Het |
| Glud1 |
T |
A |
14: 34,335,438 (GRCm38) |
L54* |
probably null |
Het |
| Grk6 |
A |
G |
13: 55,458,937 (GRCm38) |
|
probably benign |
Het |
| Gsta4 |
G |
A |
9: 78,209,165 (GRCm38) |
V219I |
probably benign |
Het |
| Hspe1 |
T |
C |
1: 55,089,042 (GRCm38) |
|
probably benign |
Het |
| Icmt |
T |
C |
4: 152,298,716 (GRCm38) |
V76A |
possibly damaging |
Het |
| Ifrd1 |
A |
G |
12: 40,216,317 (GRCm38) |
|
probably benign |
Het |
| Lgals12 |
T |
C |
19: 7,606,654 (GRCm38) |
|
probably benign |
Het |
| Lypla1 |
T |
C |
1: 4,832,387 (GRCm38) |
|
probably benign |
Het |
| Map1b |
A |
T |
13: 99,508,198 (GRCm38) |
W66R |
probably damaging |
Het |
| Matn3 |
T |
A |
12: 8,967,678 (GRCm38) |
C443* |
probably null |
Het |
| Mup8 |
T |
A |
4: 60,219,695 (GRCm38) |
R191W |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,314,375 (GRCm38) |
K140R |
probably benign |
Het |
| Ndfip1 |
C |
T |
18: 38,447,736 (GRCm38) |
S66L |
probably damaging |
Het |
| Neu1 |
A |
G |
17: 34,934,469 (GRCm38) |
I323V |
probably benign |
Het |
| Nup205 |
A |
T |
6: 35,190,068 (GRCm38) |
T341S |
probably benign |
Het |
| Olfr1303 |
G |
A |
2: 111,813,991 (GRCm38) |
T245I |
probably benign |
Het |
| Olfr1466 |
T |
A |
19: 13,342,120 (GRCm38) |
C121S |
probably benign |
Het |
| Olfr1469 |
T |
A |
19: 13,410,987 (GRCm38) |
N139K |
probably benign |
Het |
| Ovch2 |
T |
A |
7: 107,796,548 (GRCm38) |
I88F |
possibly damaging |
Het |
| Pkd1 |
T |
A |
17: 24,565,226 (GRCm38) |
S249T |
probably benign |
Het |
| Plekhg3 |
A |
T |
12: 76,578,353 (GRCm38) |
Q1324L |
probably benign |
Het |
| Ppara |
T |
A |
15: 85,801,143 (GRCm38) |
V431E |
probably benign |
Het |
| Prkaa1 |
T |
G |
15: 5,176,888 (GRCm38) |
H408Q |
probably damaging |
Het |
| Sap25 |
T |
A |
5: 137,641,995 (GRCm38) |
N108K |
probably benign |
Het |
| Setd5 |
A |
C |
6: 113,110,380 (GRCm38) |
I81L |
possibly damaging |
Het |
| Sri |
T |
A |
5: 8,062,411 (GRCm38) |
M78K |
probably damaging |
Het |
| Tyro3 |
A |
G |
2: 119,808,868 (GRCm38) |
N352S |
probably benign |
Het |
| Ubr5 |
T |
A |
15: 38,037,901 (GRCm38) |
E332V |
possibly damaging |
Het |
| Vmn2r19 |
G |
T |
6: 123,309,662 (GRCm38) |
V85F |
possibly damaging |
Het |
| Vmn2r53 |
A |
T |
7: 12,581,729 (GRCm38) |
V721D |
probably damaging |
Het |
| Vwa5a |
A |
G |
9: 38,734,784 (GRCm38) |
M483V |
probably benign |
Het |
| Zfp786 |
T |
A |
6: 47,821,367 (GRCm38) |
Q212H |
probably benign |
Het |
|
| Other mutations in Gucy1a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00549:Gucy1a2
|
APN |
9 |
3,759,418 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00768:Gucy1a2
|
APN |
9 |
3,635,111 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
IGL00928:Gucy1a2
|
APN |
9 |
3,759,777 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01520:Gucy1a2
|
APN |
9 |
3,759,561 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01566:Gucy1a2
|
APN |
9 |
3,634,661 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01819:Gucy1a2
|
APN |
9 |
3,865,409 (GRCm38) |
nonsense |
probably null |
|
|
IGL01874:Gucy1a2
|
APN |
9 |
3,797,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02608:Gucy1a2
|
APN |
9 |
3,635,113 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02612:Gucy1a2
|
APN |
9 |
3,894,556 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
IGL02719:Gucy1a2
|
APN |
9 |
3,894,719 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL02823:Gucy1a2
|
APN |
9 |
3,894,656 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
IGL02852:Gucy1a2
|
APN |
9 |
3,759,691 (GRCm38) |
missense |
probably benign |
0.31 |
|
IGL02892:Gucy1a2
|
APN |
9 |
3,634,471 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02964:Gucy1a2
|
APN |
9 |
3,759,542 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Rico
|
UTSW |
9 |
3,579,513 (GRCm38) |
splice site |
probably null |
|
|
R0096:Gucy1a2
|
UTSW |
9 |
3,758,928 (GRCm38) |
intron |
probably benign |
|
|
R0417:Gucy1a2
|
UTSW |
9 |
3,759,484 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R0920:Gucy1a2
|
UTSW |
9 |
3,759,472 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1146:Gucy1a2
|
UTSW |
9 |
3,759,830 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1146:Gucy1a2
|
UTSW |
9 |
3,759,830 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1384:Gucy1a2
|
UTSW |
9 |
3,759,620 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1631:Gucy1a2
|
UTSW |
9 |
3,533,052 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1711:Gucy1a2
|
UTSW |
9 |
3,759,622 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1730:Gucy1a2
|
UTSW |
9 |
3,634,957 (GRCm38) |
missense |
probably benign |
0.36 |
|
R1800:Gucy1a2
|
UTSW |
9 |
3,582,685 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R2069:Gucy1a2
|
UTSW |
9 |
3,582,697 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2166:Gucy1a2
|
UTSW |
9 |
3,579,513 (GRCm38) |
splice site |
probably null |
|
|
R2357:Gucy1a2
|
UTSW |
9 |
3,797,299 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3401:Gucy1a2
|
UTSW |
9 |
3,635,154 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3953:Gucy1a2
|
UTSW |
9 |
3,582,704 (GRCm38) |
splice site |
probably benign |
|
|
R4420:Gucy1a2
|
UTSW |
9 |
3,634,640 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4731:Gucy1a2
|
UTSW |
9 |
3,759,424 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4732:Gucy1a2
|
UTSW |
9 |
3,759,424 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4733:Gucy1a2
|
UTSW |
9 |
3,759,424 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4931:Gucy1a2
|
UTSW |
9 |
3,759,588 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5094:Gucy1a2
|
UTSW |
9 |
3,865,443 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5852:Gucy1a2
|
UTSW |
9 |
3,865,460 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6005:Gucy1a2
|
UTSW |
9 |
3,865,518 (GRCm38) |
splice site |
probably null |
|
|
R7667:Gucy1a2
|
UTSW |
9 |
3,759,580 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7841:Gucy1a2
|
UTSW |
9 |
3,634,766 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7866:Gucy1a2
|
UTSW |
9 |
3,532,804 (GRCm38) |
start codon destroyed |
probably null |
|
|
R8525:Gucy1a2
|
UTSW |
9 |
3,865,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8802:Gucy1a2
|
UTSW |
9 |
3,635,050 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9098:Gucy1a2
|
UTSW |
9 |
3,634,489 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9127:Gucy1a2
|
UTSW |
9 |
3,634,553 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Gucy1a2
|
UTSW |
9 |
3,635,156 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Gucy1a2
|
UTSW |
9 |
3,797,245 (GRCm38) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2015-04-16 |
Incidental Mutation