Incidental Mutation 'IGL02719:Gucy1a2'
| ID |
304932 |
| 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: 0.311)
|
| Stock # |
IGL02719
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
3532778-3894736 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to A
at 3894719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115733]
|
| AlphaFold |
F8VQK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115733
|
| SMART Domains |
Protein: ENSMUSP00000111398
Gene: ENSMUSG00000041624
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,632,150 (GRCm39) |
D160G |
probably damaging |
Het |
| Aak1 |
A |
G |
6: 86,936,152 (GRCm39) |
|
probably benign |
Het |
| Anp32e |
A |
G |
3: 95,845,224 (GRCm39) |
|
probably benign |
Het |
| Aspscr1 |
T |
A |
11: 120,568,405 (GRCm39) |
L61Q |
probably damaging |
Het |
| Btrc |
A |
G |
19: 45,491,589 (GRCm39) |
I89M |
probably damaging |
Het |
| Ccdc175 |
G |
A |
12: 72,221,899 (GRCm39) |
T141M |
probably damaging |
Het |
| Cep70 |
G |
A |
9: 99,157,775 (GRCm39) |
V225I |
probably damaging |
Het |
| Cilk1 |
A |
G |
9: 78,047,301 (GRCm39) |
E67G |
probably damaging |
Het |
| Col4a1 |
T |
C |
8: 11,281,950 (GRCm39) |
|
probably benign |
Het |
| Cpne1 |
T |
C |
2: 155,920,137 (GRCm39) |
Y214C |
probably damaging |
Het |
| Crtc3 |
T |
C |
7: 80,268,406 (GRCm39) |
|
probably null |
Het |
| Cul2 |
C |
T |
18: 3,434,052 (GRCm39) |
A683V |
probably damaging |
Het |
| Ddx47 |
A |
G |
6: 134,994,114 (GRCm39) |
N131D |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,138,768 (GRCm39) |
|
probably benign |
Het |
| Dnai2 |
T |
C |
11: 114,642,737 (GRCm39) |
L446P |
probably damaging |
Het |
| Ergic2 |
T |
C |
6: 148,106,317 (GRCm39) |
T58A |
possibly damaging |
Het |
| Erlin2 |
A |
G |
8: 27,519,703 (GRCm39) |
|
probably benign |
Het |
| Fermt2 |
T |
C |
14: 45,742,113 (GRCm39) |
T78A |
probably damaging |
Het |
| Flg2 |
G |
T |
3: 93,127,438 (GRCm39) |
G97* |
probably null |
Het |
| Gm7356 |
A |
G |
17: 14,221,537 (GRCm39) |
I164T |
probably damaging |
Het |
| Heatr5b |
C |
T |
17: 79,122,969 (GRCm39) |
R670H |
probably damaging |
Het |
| Hspa4l |
T |
C |
3: 40,727,090 (GRCm39) |
V476A |
possibly damaging |
Het |
| Itpkc |
A |
T |
7: 26,927,475 (GRCm39) |
D146E |
possibly damaging |
Het |
| Kcnk3 |
T |
C |
5: 30,779,324 (GRCm39) |
F125L |
probably damaging |
Het |
| Kif12 |
T |
A |
4: 63,086,033 (GRCm39) |
M411L |
probably benign |
Het |
| Krtap24-1 |
T |
C |
16: 88,409,094 (GRCm39) |
S11G |
probably benign |
Het |
| Lilra6 |
A |
T |
7: 3,915,991 (GRCm39) |
H289Q |
possibly damaging |
Het |
| Musk |
A |
C |
4: 58,356,496 (GRCm39) |
N469H |
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,413,349 (GRCm39) |
|
probably benign |
Het |
| Nagpa |
A |
G |
16: 5,019,357 (GRCm39) |
V46A |
possibly damaging |
Het |
| Or4k37 |
T |
A |
2: 111,159,590 (GRCm39) |
Y275* |
probably null |
Het |
| Or5h25 |
T |
A |
16: 58,930,536 (GRCm39) |
T146S |
probably benign |
Het |
| Or8g17 |
T |
C |
9: 38,930,312 (GRCm39) |
N175S |
probably benign |
Het |
| Parp6 |
T |
A |
9: 59,538,021 (GRCm39) |
V222E |
probably benign |
Het |
| Pde3b |
T |
A |
7: 114,105,483 (GRCm39) |
S472T |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,134,490 (GRCm39) |
S1314P |
probably damaging |
Het |
| Pgc |
A |
G |
17: 48,039,792 (GRCm39) |
Y62C |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,278,665 (GRCm39) |
C189R |
probably damaging |
Het |
| Pla2g15 |
G |
T |
8: 106,886,828 (GRCm39) |
Q106H |
probably benign |
Het |
| Pla2g4c |
T |
A |
7: 13,064,019 (GRCm39) |
S93T |
probably damaging |
Het |
| Rbks |
G |
T |
5: 31,809,145 (GRCm39) |
|
probably benign |
Het |
| Retsat |
A |
G |
6: 72,580,642 (GRCm39) |
T207A |
possibly damaging |
Het |
| Slc25a32 |
A |
G |
15: 38,963,300 (GRCm39) |
Y174H |
probably benign |
Het |
| Slc35f2 |
T |
A |
9: 53,717,026 (GRCm39) |
|
probably benign |
Het |
| Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
| Sos2 |
A |
G |
12: 69,663,958 (GRCm39) |
Y476H |
probably benign |
Het |
| Ssh2 |
A |
T |
11: 77,316,413 (GRCm39) |
N296I |
probably damaging |
Het |
| Sspo |
G |
T |
6: 48,459,601 (GRCm39) |
R3320L |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,047,192 (GRCm39) |
I166V |
probably benign |
Het |
| Tpp2 |
T |
C |
1: 43,979,391 (GRCm39) |
V96A |
probably benign |
Het |
| Vmn2r3 |
A |
T |
3: 64,183,031 (GRCm39) |
W223R |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,146,089 (GRCm39) |
|
probably null |
Het |
| Zfr2 |
T |
A |
10: 81,080,546 (GRCm39) |
C407S |
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 |
|
IGL02608:Gucy1a2
|
APN |
9 |
3,635,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02612:Gucy1a2
|
APN |
9 |
3,894,556 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
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 |
Incidental Mutation