Incidental Mutation 'IGL01874:Gucy1a2'
ID |
178823 |
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 # |
IGL01874
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
3532778-3894736 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3797343 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 598
(S598P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111398
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115733]
|
AlphaFold |
F8VQK3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115733
AA Change: S598P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000111398 Gene: ENSMUSG00000041624 AA Change: S598P
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts16 |
A |
T |
13: 70,916,823 (GRCm39) |
V723D |
possibly damaging |
Het |
Adgrb1 |
G |
A |
15: 74,413,423 (GRCm39) |
V536I |
possibly damaging |
Het |
Aox4 |
T |
C |
1: 58,291,243 (GRCm39) |
L787S |
probably damaging |
Het |
Atp2c1 |
A |
C |
9: 105,326,024 (GRCm39) |
V293G |
probably damaging |
Het |
Ccnb1 |
T |
C |
13: 100,920,001 (GRCm39) |
D170G |
probably damaging |
Het |
Cdc42 |
T |
C |
4: 137,063,381 (GRCm39) |
I4V |
probably benign |
Het |
Clip1 |
T |
C |
5: 123,741,729 (GRCm39) |
Q1175R |
possibly damaging |
Het |
Cox6a1 |
A |
G |
5: 115,483,904 (GRCm39) |
*113Q |
probably null |
Het |
Crtc2 |
C |
T |
3: 90,165,815 (GRCm39) |
P139L |
probably damaging |
Het |
Cyp8b1 |
A |
T |
9: 121,744,969 (GRCm39) |
M121K |
possibly damaging |
Het |
D630003M21Rik |
C |
A |
2: 158,046,644 (GRCm39) |
G778C |
probably damaging |
Het |
Dgat1 |
A |
G |
15: 76,387,241 (GRCm39) |
F349L |
probably damaging |
Het |
Enox1 |
A |
G |
14: 77,816,602 (GRCm39) |
Y194C |
probably damaging |
Het |
Fam120b |
T |
A |
17: 15,623,301 (GRCm39) |
C426* |
probably null |
Het |
Fxyd3 |
A |
G |
7: 30,770,318 (GRCm39) |
|
probably benign |
Het |
Gin1 |
A |
G |
1: 97,710,797 (GRCm39) |
Y160C |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm11110 |
T |
A |
17: 57,399,693 (GRCm39) |
|
probably benign |
Het |
Gm1818 |
T |
C |
12: 48,602,973 (GRCm39) |
|
noncoding transcript |
Het |
Hook3 |
T |
A |
8: 26,529,760 (GRCm39) |
N199Y |
possibly damaging |
Het |
Il10ra |
A |
G |
9: 45,178,458 (GRCm39) |
L41P |
probably damaging |
Het |
Itgam |
C |
T |
7: 127,714,338 (GRCm39) |
T949I |
probably damaging |
Het |
Kctd3 |
A |
G |
1: 188,729,188 (GRCm39) |
V123A |
probably damaging |
Het |
Krt84 |
G |
A |
15: 101,436,239 (GRCm39) |
A450V |
probably damaging |
Het |
Lrrc7 |
G |
A |
3: 157,946,080 (GRCm39) |
|
probably benign |
Het |
Nckap1 |
A |
G |
2: 80,355,980 (GRCm39) |
F608L |
probably damaging |
Het |
Niban2 |
A |
T |
2: 32,795,779 (GRCm39) |
|
probably null |
Het |
Nmbr |
A |
T |
10: 14,642,696 (GRCm39) |
Y85F |
probably benign |
Het |
Nol6 |
A |
C |
4: 41,115,412 (GRCm39) |
L1135R |
probably damaging |
Het |
Ntan1 |
T |
C |
16: 13,653,077 (GRCm39) |
F278L |
probably benign |
Het |
Or2n1e |
T |
A |
17: 38,586,408 (GRCm39) |
S249T |
probably benign |
Het |
Pcsk5 |
T |
A |
19: 17,573,041 (GRCm39) |
T474S |
probably damaging |
Het |
Pex11b |
T |
A |
3: 96,550,883 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
G |
T |
1: 20,173,459 (GRCm39) |
A3786E |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,552,858 (GRCm39) |
I2098T |
possibly damaging |
Het |
Prl2c5 |
T |
A |
13: 13,365,362 (GRCm39) |
S169R |
probably benign |
Het |
Ptbp2 |
A |
G |
3: 119,541,449 (GRCm39) |
V196A |
probably damaging |
Het |
Rad17 |
T |
C |
13: 100,754,192 (GRCm39) |
|
probably benign |
Het |
Skic2 |
T |
C |
17: 35,060,185 (GRCm39) |
N114D |
probably benign |
Het |
Slc47a2 |
T |
A |
11: 61,203,685 (GRCm39) |
|
probably null |
Het |
Srcin1 |
A |
T |
11: 97,423,924 (GRCm39) |
M684K |
possibly damaging |
Het |
Sspo |
T |
A |
6: 48,429,124 (GRCm39) |
C298S |
probably damaging |
Het |
Tenm3 |
G |
T |
8: 48,689,793 (GRCm39) |
Y1915* |
probably null |
Het |
Tnks1bp1 |
A |
G |
2: 84,888,791 (GRCm39) |
T373A |
probably benign |
Het |
Trp63 |
A |
C |
16: 25,701,335 (GRCm39) |
N470H |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,628,907 (GRCm39) |
N12703S |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,120,600 (GRCm39) |
|
probably benign |
Het |
Vmn2r56 |
T |
A |
7: 12,449,602 (GRCm39) |
Y212F |
probably benign |
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 |
|
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 |
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 |
2014-05-07 |