Incidental Mutation 'IGL02608:Gucy1a2'
ID |
300351 |
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: 0.279)
|
Stock # |
IGL02608
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
3532778-3894736 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 3635113 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 386
(I386V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111398
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115733]
|
AlphaFold |
F8VQK3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115733
AA Change: I386V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000111398 Gene: ENSMUSG00000041624 AA Change: I386V
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213060
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aaas |
T |
A |
15: 102,247,627 (GRCm39) |
M415L |
probably benign |
Het |
Akap6 |
T |
C |
12: 53,057,389 (GRCm39) |
S952P |
probably benign |
Het |
Aldh3a1 |
A |
G |
11: 61,107,147 (GRCm39) |
R284G |
probably damaging |
Het |
Aldh3b1 |
G |
T |
19: 3,964,061 (GRCm39) |
H414N |
probably damaging |
Het |
Chd5 |
G |
A |
4: 152,440,564 (GRCm39) |
M141I |
possibly damaging |
Het |
Cntn2 |
C |
T |
1: 132,453,654 (GRCm39) |
A340T |
possibly damaging |
Het |
Daw1 |
T |
A |
1: 83,187,055 (GRCm39) |
C288* |
probably null |
Het |
Dcn |
A |
G |
10: 97,319,319 (GRCm39) |
E32G |
probably damaging |
Het |
Dock5 |
C |
T |
14: 68,065,888 (GRCm39) |
V372M |
probably benign |
Het |
Etf1 |
T |
C |
18: 35,064,670 (GRCm39) |
E13G |
probably damaging |
Het |
Filip1l |
A |
G |
16: 57,392,469 (GRCm39) |
E781G |
probably benign |
Het |
Gvin-ps5 |
T |
A |
7: 105,928,876 (GRCm39) |
|
noncoding transcript |
Het |
Hoxb5 |
T |
A |
11: 96,195,969 (GRCm39) |
|
probably benign |
Het |
Iqch |
T |
A |
9: 63,329,110 (GRCm39) |
|
probably benign |
Het |
Itgal |
C |
T |
7: 126,909,416 (GRCm39) |
P423S |
probably damaging |
Het |
Kti12 |
T |
G |
4: 108,705,359 (GRCm39) |
L91R |
probably damaging |
Het |
Lgals3 |
T |
C |
14: 47,623,058 (GRCm39) |
M239T |
probably benign |
Het |
Lrrc8a |
T |
C |
2: 30,146,311 (GRCm39) |
M375T |
possibly damaging |
Het |
Ly75 |
T |
C |
2: 60,152,244 (GRCm39) |
E1103G |
probably benign |
Het |
Lyst |
A |
T |
13: 13,887,339 (GRCm39) |
E3056V |
probably damaging |
Het |
Map3k7 |
T |
C |
4: 31,981,452 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
G |
A |
11: 62,264,040 (GRCm39) |
T180I |
probably benign |
Het |
Nectin4 |
T |
C |
1: 171,212,341 (GRCm39) |
V313A |
probably benign |
Het |
Nol4l |
A |
G |
2: 153,278,213 (GRCm39) |
S8P |
possibly damaging |
Het |
Npas2 |
T |
A |
1: 39,384,527 (GRCm39) |
S607T |
probably benign |
Het |
Nup155 |
T |
A |
15: 8,138,955 (GRCm39) |
M9K |
probably benign |
Het |
Nwd1 |
T |
C |
8: 73,394,003 (GRCm39) |
L422P |
probably damaging |
Het |
Or14j3 |
T |
A |
17: 37,901,110 (GRCm39) |
I45F |
probably damaging |
Het |
Papola |
G |
T |
12: 105,775,818 (GRCm39) |
G245C |
probably damaging |
Het |
Pcdhb6 |
T |
C |
18: 37,467,747 (GRCm39) |
S223P |
probably damaging |
Het |
Pdcd4 |
T |
C |
19: 53,915,638 (GRCm39) |
|
probably null |
Het |
Pigg |
T |
C |
5: 108,460,869 (GRCm39) |
F27L |
probably damaging |
Het |
Prpf40a |
A |
T |
2: 53,036,165 (GRCm39) |
M588K |
probably damaging |
Het |
Psme4 |
A |
G |
11: 30,770,944 (GRCm39) |
N764S |
probably benign |
Het |
Ptar1 |
A |
C |
19: 23,683,076 (GRCm39) |
E110A |
possibly damaging |
Het |
Rbm12 |
A |
T |
2: 155,937,818 (GRCm39) |
|
probably benign |
Het |
Rfx7 |
A |
G |
9: 72,524,576 (GRCm39) |
T589A |
probably benign |
Het |
Rpl21-ps4 |
G |
T |
14: 11,227,831 (GRCm38) |
|
noncoding transcript |
Het |
Rpp38 |
T |
C |
2: 3,330,198 (GRCm39) |
T235A |
probably benign |
Het |
Sbno2 |
A |
T |
10: 79,903,236 (GRCm39) |
|
probably null |
Het |
Scn3a |
A |
T |
2: 65,354,510 (GRCm39) |
C337* |
probably null |
Het |
Sec61a2 |
T |
C |
2: 5,879,073 (GRCm39) |
T312A |
probably benign |
Het |
Snrpg |
C |
A |
6: 86,353,550 (GRCm39) |
D43E |
probably damaging |
Het |
Stag1 |
A |
T |
9: 100,639,822 (GRCm39) |
Q126L |
probably null |
Het |
Taar6 |
A |
G |
10: 23,861,081 (GRCm39) |
V155A |
probably benign |
Het |
Tet1 |
G |
A |
10: 62,715,388 (GRCm39) |
H136Y |
possibly damaging |
Het |
Tet1 |
C |
A |
10: 62,674,866 (GRCm39) |
S1070I |
probably damaging |
Het |
Tfcp2 |
T |
C |
15: 100,411,991 (GRCm39) |
T327A |
possibly damaging |
Het |
Tnfrsf13c |
C |
T |
15: 82,107,364 (GRCm39) |
V144M |
probably damaging |
Het |
Tnfrsf22 |
T |
A |
7: 143,198,533 (GRCm39) |
K61* |
probably null |
Het |
Trhr |
T |
C |
15: 44,061,074 (GRCm39) |
V198A |
probably benign |
Het |
Trp53inp2 |
A |
G |
2: 155,228,569 (GRCm39) |
R175G |
probably damaging |
Het |
Try10 |
G |
A |
6: 41,332,421 (GRCm39) |
G26R |
probably damaging |
Het |
Vmn1r205 |
A |
G |
13: 22,776,370 (GRCm39) |
V244A |
probably damaging |
Het |
Wrnip1 |
T |
A |
13: 32,990,857 (GRCm39) |
L372H |
probably damaging |
Het |
Zfp280d |
T |
A |
9: 72,215,261 (GRCm39) |
L149Q |
probably damaging |
Het |
Zfp445 |
A |
G |
9: 122,690,940 (GRCm39) |
V85A |
probably damaging |
Het |
|
Other mutations in Gucy1a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00549:Gucy1a2
|
APN |
9 |
3,759,418 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00768:Gucy1a2
|
APN |
9 |
3,635,111 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL00928:Gucy1a2
|
APN |
9 |
3,759,777 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01520:Gucy1a2
|
APN |
9 |
3,759,561 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01566:Gucy1a2
|
APN |
9 |
3,634,661 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01819:Gucy1a2
|
APN |
9 |
3,865,409 (GRCm39) |
nonsense |
probably null |
|
IGL01874:Gucy1a2
|
APN |
9 |
3,797,343 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02442:Gucy1a2
|
APN |
9 |
3,865,385 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02612:Gucy1a2
|
APN |
9 |
3,894,556 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL02719:Gucy1a2
|
APN |
9 |
3,894,719 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL02823:Gucy1a2
|
APN |
9 |
3,894,656 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02852:Gucy1a2
|
APN |
9 |
3,759,691 (GRCm39) |
missense |
probably benign |
0.31 |
IGL02892:Gucy1a2
|
APN |
9 |
3,634,471 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02964:Gucy1a2
|
APN |
9 |
3,759,542 (GRCm39) |
missense |
probably damaging |
0.96 |
Rico
|
UTSW |
9 |
3,579,513 (GRCm39) |
splice site |
probably null |
|
R0096:Gucy1a2
|
UTSW |
9 |
3,758,928 (GRCm39) |
intron |
probably benign |
|
R0417:Gucy1a2
|
UTSW |
9 |
3,759,484 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0920:Gucy1a2
|
UTSW |
9 |
3,759,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R1146:Gucy1a2
|
UTSW |
9 |
3,759,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R1146:Gucy1a2
|
UTSW |
9 |
3,759,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R1384:Gucy1a2
|
UTSW |
9 |
3,759,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R1631:Gucy1a2
|
UTSW |
9 |
3,533,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R1711:Gucy1a2
|
UTSW |
9 |
3,759,622 (GRCm39) |
missense |
probably benign |
0.04 |
R1730:Gucy1a2
|
UTSW |
9 |
3,634,957 (GRCm39) |
missense |
probably benign |
0.36 |
R1800:Gucy1a2
|
UTSW |
9 |
3,582,685 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2069:Gucy1a2
|
UTSW |
9 |
3,582,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R2166:Gucy1a2
|
UTSW |
9 |
3,579,513 (GRCm39) |
splice site |
probably null |
|
R2357:Gucy1a2
|
UTSW |
9 |
3,797,299 (GRCm39) |
missense |
probably damaging |
0.97 |
R3401:Gucy1a2
|
UTSW |
9 |
3,635,154 (GRCm39) |
missense |
probably benign |
0.00 |
R3953:Gucy1a2
|
UTSW |
9 |
3,582,704 (GRCm39) |
splice site |
probably benign |
|
R4420:Gucy1a2
|
UTSW |
9 |
3,634,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R4731:Gucy1a2
|
UTSW |
9 |
3,759,424 (GRCm39) |
missense |
probably benign |
0.02 |
R4732:Gucy1a2
|
UTSW |
9 |
3,759,424 (GRCm39) |
missense |
probably benign |
0.02 |
R4733:Gucy1a2
|
UTSW |
9 |
3,759,424 (GRCm39) |
missense |
probably benign |
0.02 |
R4931:Gucy1a2
|
UTSW |
9 |
3,759,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R5094:Gucy1a2
|
UTSW |
9 |
3,865,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R5852:Gucy1a2
|
UTSW |
9 |
3,865,460 (GRCm39) |
missense |
probably damaging |
0.99 |
R6005:Gucy1a2
|
UTSW |
9 |
3,865,518 (GRCm39) |
splice site |
probably null |
|
R7667:Gucy1a2
|
UTSW |
9 |
3,759,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R7841:Gucy1a2
|
UTSW |
9 |
3,634,766 (GRCm39) |
missense |
probably benign |
0.03 |
R7866:Gucy1a2
|
UTSW |
9 |
3,532,804 (GRCm39) |
start codon destroyed |
probably null |
|
R8525:Gucy1a2
|
UTSW |
9 |
3,865,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R8802:Gucy1a2
|
UTSW |
9 |
3,635,050 (GRCm39) |
missense |
probably benign |
0.03 |
R9098:Gucy1a2
|
UTSW |
9 |
3,634,489 (GRCm39) |
missense |
probably benign |
0.00 |
R9127:Gucy1a2
|
UTSW |
9 |
3,634,553 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Gucy1a2
|
UTSW |
9 |
3,635,156 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Gucy1a2
|
UTSW |
9 |
3,797,245 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Posted On |
2015-04-16 |