Incidental Mutation 'IGL02823:Gucy1a2'
| ID |
361081 |
| 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 # |
IGL02823
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
3532778-3894736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3894656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 713
(I713T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115733]
|
| AlphaFold |
F8VQK3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115733
AA Change: I713T
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111398
Gene: ENSMUSG00000041624
AA Change: I713T
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,410,074 (GRCm39) |
S194P |
probably damaging |
Het |
| Abca7 |
T |
A |
10: 79,844,656 (GRCm39) |
D1488E |
probably damaging |
Het |
| Abhd18 |
A |
G |
3: 40,887,953 (GRCm39) |
|
probably benign |
Het |
| Atp6ap1l |
A |
G |
13: 91,047,644 (GRCm39) |
V56A |
probably benign |
Het |
| Atrip |
A |
G |
9: 108,890,246 (GRCm39) |
Y631H |
probably damaging |
Het |
| C9orf72 |
A |
T |
4: 35,213,031 (GRCm39) |
C215S |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,231,164 (GRCm39) |
H3097L |
possibly damaging |
Het |
| Ear1 |
G |
T |
14: 44,056,502 (GRCm39) |
S122* |
probably null |
Het |
| Eif2a |
G |
T |
3: 58,456,092 (GRCm39) |
A364S |
probably benign |
Het |
| Eps8l2 |
A |
T |
7: 140,921,988 (GRCm39) |
D22V |
probably damaging |
Het |
| Fndc7 |
A |
G |
3: 108,776,487 (GRCm39) |
F432S |
probably damaging |
Het |
| Gemin5 |
T |
C |
11: 58,058,531 (GRCm39) |
|
probably benign |
Het |
| Grxcr2 |
T |
C |
18: 42,125,046 (GRCm39) |
K121E |
probably damaging |
Het |
| Hs3st1 |
A |
G |
5: 39,772,100 (GRCm39) |
L181P |
probably damaging |
Het |
| Ksr1 |
C |
A |
11: 78,912,229 (GRCm39) |
V627L |
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,877,141 (GRCm39) |
N2682D |
probably damaging |
Het |
| Lratd2 |
T |
C |
15: 60,694,972 (GRCm39) |
D258G |
probably damaging |
Het |
| Map3k19 |
G |
T |
1: 127,750,001 (GRCm39) |
H1117N |
probably benign |
Het |
| Mdc1 |
C |
T |
17: 36,163,815 (GRCm39) |
A1121V |
probably damaging |
Het |
| Nlrp1a |
C |
T |
11: 70,983,249 (GRCm39) |
S1239N |
probably damaging |
Het |
| Or2w3 |
T |
C |
11: 58,556,793 (GRCm39) |
M136T |
possibly damaging |
Het |
| Prkra |
G |
T |
2: 76,460,768 (GRCm39) |
A310E |
probably damaging |
Het |
| Prl2c1 |
T |
C |
13: 28,040,416 (GRCm39) |
|
probably benign |
Het |
| Prl7a2 |
T |
C |
13: 27,846,734 (GRCm39) |
Y93C |
possibly damaging |
Het |
| Prob1 |
A |
T |
18: 35,785,800 (GRCm39) |
V818E |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,865,270 (GRCm39) |
S720G |
possibly damaging |
Het |
| Rexo4 |
T |
C |
2: 26,852,489 (GRCm39) |
T149A |
probably benign |
Het |
| Slc39a2 |
T |
A |
14: 52,132,869 (GRCm39) |
Y271N |
probably damaging |
Het |
| Sprr2d |
T |
A |
3: 92,247,734 (GRCm39) |
C58* |
probably null |
Het |
| Srebf2 |
G |
A |
15: 82,083,975 (GRCm39) |
G965D |
possibly damaging |
Het |
| Tcof1 |
T |
C |
18: 60,949,120 (GRCm39) |
E1265G |
probably benign |
Het |
| Terf2 |
T |
C |
8: 107,799,257 (GRCm39) |
N389S |
possibly damaging |
Het |
| Vsig10l |
T |
C |
7: 43,115,888 (GRCm39) |
S410P |
probably damaging |
Het |
| Vwa3b |
A |
T |
1: 37,225,985 (GRCm39) |
|
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 |
|
|
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 |
|
IGL02719:Gucy1a2
|
APN |
9 |
3,894,719 (GRCm39) |
utr 3 prime |
probably benign |
|
|
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 |
2015-12-18 |
Incidental Mutation