Incidental Mutation 'R5852:Gucy1a2'
| ID |
454724 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy1a2
|
| Ensembl Gene |
ENSMUSG00000041624 |
| Gene Name |
guanylate cyclase 1, soluble, alpha 2 |
| Synonyms |
6330407I18Rik, A230060L24Rik |
| MMRRC Submission |
043227-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.279)
|
| Stock # |
R5852 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
3532778-3894736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3865460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 645
(F645L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115733]
|
| AlphaFold |
F8VQK3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115733
AA Change: F645L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000111398
Gene: ENSMUSG00000041624
AA Change: F645L
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,891,139 (GRCm39) |
I453F |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,720 (GRCm39) |
W402* |
probably null |
Het |
| Apcdd1 |
T |
C |
18: 63,070,134 (GRCm39) |
S134P |
probably damaging |
Het |
| Ccdc154 |
T |
C |
17: 25,382,183 (GRCm39) |
V34A |
probably benign |
Het |
| Cntn3 |
A |
T |
6: 102,397,377 (GRCm39) |
N65K |
probably damaging |
Het |
| Cntn6 |
G |
T |
6: 104,812,706 (GRCm39) |
V663F |
probably damaging |
Het |
| Crisp3 |
A |
T |
17: 40,536,711 (GRCm39) |
C201* |
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,344,955 (GRCm39) |
W2100R |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,011,290 (GRCm39) |
S3634R |
probably benign |
Het |
| Entrep2 |
T |
A |
7: 64,425,579 (GRCm39) |
H171L |
probably damaging |
Het |
| Hs6st3 |
G |
T |
14: 120,106,738 (GRCm39) |
R382L |
probably damaging |
Het |
| Il27 |
T |
A |
7: 126,191,786 (GRCm39) |
T89S |
possibly damaging |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Klhl23 |
T |
A |
2: 69,654,613 (GRCm39) |
I161N |
probably benign |
Het |
| Lrrk2 |
G |
A |
15: 91,640,152 (GRCm39) |
E1566K |
probably damaging |
Het |
| Mia3 |
A |
G |
1: 183,113,713 (GRCm39) |
V437A |
probably benign |
Het |
| Ncoa6 |
G |
T |
2: 155,247,419 (GRCm39) |
H1962N |
possibly damaging |
Het |
| Nox4 |
C |
T |
7: 86,988,172 (GRCm39) |
T361I |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,544,584 (GRCm39) |
Y1748C |
probably damaging |
Het |
| Phyhip |
T |
C |
14: 70,699,369 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
A |
G |
1: 20,447,632 (GRCm39) |
F2254L |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,935,518 (GRCm39) |
Y1018C |
probably damaging |
Het |
| Pnoc |
C |
T |
14: 65,648,671 (GRCm39) |
V8I |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,541,408 (GRCm39) |
D256G |
probably benign |
Het |
| Scrn3 |
T |
C |
2: 73,161,349 (GRCm39) |
F312L |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,339 (GRCm39) |
E239G |
possibly damaging |
Het |
| Tti1 |
A |
G |
2: 157,842,593 (GRCm39) |
L812P |
probably damaging |
Het |
| Wdr1 |
A |
G |
5: 38,694,518 (GRCm39) |
S62P |
probably benign |
Het |
| Zfp106 |
A |
G |
2: 120,346,487 (GRCm39) |
S1659P |
probably damaging |
Het |
| Zng1 |
A |
G |
19: 24,932,769 (GRCm39) |
V88A |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGCCTCTGAACAAACATGTAC -3'
(R):5'- GGTCACTCTATCTCAGACTGAAAAC -3'
Sequencing Primer
(F):5'- CGGATAGGCATTCACTCA -3'
(R):5'- ACTCTATCTCAGACTGAAAACTACTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation