Incidental Mutation 'R7866:Gucy1a2'
| ID |
607782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy1a2
|
| Ensembl Gene |
ENSMUSG00000041624 |
| Gene Name |
guanylate cyclase 1, soluble, alpha 2 |
| Synonyms |
6330407I18Rik, A230060L24Rik |
| MMRRC Submission |
045918-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.279)
|
| Stock # |
R7866 (G1)
|
| Quality Score |
221.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
3532778-3894736 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 3532804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115733]
|
| AlphaFold |
F8VQK3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000115733
AA Change: M1K
|
| SMART Domains |
Protein: ENSMUSP00000111398
Gene: ENSMUSG00000041624
AA Change: M1K
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
C |
T |
17: 31,317,269 (GRCm39) |
R194* |
probably null |
Het |
| Actl6a |
A |
G |
3: 32,766,262 (GRCm39) |
T39A |
possibly damaging |
Het |
| Adamts6 |
T |
A |
13: 104,550,257 (GRCm39) |
C624* |
probably null |
Het |
| Adgrl1 |
T |
C |
8: 84,664,564 (GRCm39) |
|
probably null |
Het |
| Ap3m2 |
A |
G |
8: 23,289,674 (GRCm39) |
V143A |
probably benign |
Het |
| Ap5m1 |
T |
C |
14: 49,311,218 (GRCm39) |
V96A |
probably damaging |
Het |
| Aqp5 |
T |
A |
15: 99,489,424 (GRCm39) |
V91E |
probably damaging |
Het |
| Atp6v0b |
A |
T |
4: 117,742,350 (GRCm39) |
I181N |
probably damaging |
Het |
| Ccp110 |
T |
A |
7: 118,322,241 (GRCm39) |
M632K |
probably benign |
Het |
| Cd44 |
A |
T |
2: 102,672,604 (GRCm39) |
|
probably null |
Het |
| Cidea |
G |
A |
18: 67,491,854 (GRCm39) |
R38Q |
probably damaging |
Het |
| Cnn3 |
T |
C |
3: 121,245,042 (GRCm39) |
I86T |
probably benign |
Het |
| Col14a1 |
C |
A |
15: 55,252,016 (GRCm39) |
D557E |
unknown |
Het |
| Col6a6 |
T |
C |
9: 105,566,760 (GRCm39) |
Y2245C |
probably damaging |
Het |
| Dhrs4 |
A |
T |
14: 55,725,092 (GRCm39) |
N196Y |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 31,093,901 (GRCm39) |
V4665A |
possibly damaging |
Het |
| Dpep2 |
T |
C |
8: 106,716,113 (GRCm39) |
T267A |
|
Het |
| Dtx3l |
T |
A |
16: 35,759,120 (GRCm39) |
Q43L |
probably benign |
Het |
| Ednrb |
A |
G |
14: 104,080,738 (GRCm39) |
S59P |
probably benign |
Het |
| Eml4 |
A |
G |
17: 83,758,126 (GRCm39) |
T435A |
probably benign |
Het |
| Fam135b |
A |
T |
15: 71,333,925 (GRCm39) |
F1090I |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,726,225 (GRCm39) |
V798A |
probably benign |
Het |
| Fnip1 |
T |
G |
11: 54,356,228 (GRCm39) |
|
probably benign |
Het |
| Gabrb2 |
C |
T |
11: 42,378,050 (GRCm39) |
Q89* |
probably null |
Het |
| Gtf2ird1 |
A |
T |
5: 134,392,063 (GRCm39) |
V882E |
probably benign |
Het |
| Ift70b |
A |
G |
2: 75,766,963 (GRCm39) |
S597P |
possibly damaging |
Het |
| Igkv10-96 |
T |
A |
6: 68,609,025 (GRCm39) |
D90V |
possibly damaging |
Het |
| Igkv4-54 |
G |
A |
6: 69,608,740 (GRCm39) |
R60C |
probably benign |
Het |
| Igkv7-33 |
G |
T |
6: 70,035,847 (GRCm39) |
A45D |
probably damaging |
Het |
| Klk1b22 |
A |
T |
7: 43,762,168 (GRCm39) |
I15F |
possibly damaging |
Het |
| Lamp3 |
T |
A |
16: 19,518,490 (GRCm39) |
D249V |
probably benign |
Het |
| Lrrfip2 |
T |
C |
9: 111,022,149 (GRCm39) |
V125A |
possibly damaging |
Het |
| Mprip |
G |
A |
11: 59,643,756 (GRCm39) |
R638H |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,349,589 (GRCm39) |
M501V |
probably benign |
Het |
| Myo5a |
C |
T |
9: 75,111,034 (GRCm39) |
P1509S |
probably damaging |
Het |
| Ngdn |
A |
G |
14: 55,258,554 (GRCm39) |
Y63C |
probably damaging |
Het |
| Oit3 |
A |
G |
10: 59,259,852 (GRCm39) |
V517A |
probably benign |
Het |
| Or8g21 |
A |
T |
9: 38,906,027 (GRCm39) |
S235T |
not run |
Het |
| Pcdhb18 |
T |
A |
18: 37,623,512 (GRCm39) |
F281I |
probably damaging |
Het |
| Pkd1 |
C |
A |
17: 24,809,881 (GRCm39) |
Q3520K |
probably benign |
Het |
| Plxnb1 |
T |
A |
9: 108,929,525 (GRCm39) |
I127N |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,655,390 (GRCm39) |
N319I |
probably damaging |
Het |
| Pxn |
T |
C |
5: 115,686,665 (GRCm39) |
S386P |
possibly damaging |
Het |
| Ralgps2 |
C |
T |
1: 156,714,738 (GRCm39) |
V104I |
probably benign |
Het |
| Rp1 |
C |
T |
1: 4,417,924 (GRCm39) |
V1063I |
probably benign |
Het |
| Slc10a5 |
A |
T |
3: 10,399,532 (GRCm39) |
F376Y |
probably damaging |
Het |
| Snd1 |
T |
A |
6: 28,527,724 (GRCm39) |
I277N |
probably damaging |
Het |
| Spc25 |
A |
G |
2: 69,036,406 (GRCm39) |
|
probably null |
Het |
| Tex29 |
A |
G |
8: 11,894,055 (GRCm39) |
N6D |
unknown |
Het |
| Top6bl |
T |
A |
19: 4,748,514 (GRCm39) |
R61S |
unknown |
Het |
| Ttc6 |
G |
A |
12: 57,721,435 (GRCm39) |
A975T |
probably damaging |
Het |
| Uba6 |
T |
C |
5: 86,320,560 (GRCm39) |
E13G |
probably damaging |
Het |
| Ugcg |
T |
G |
4: 59,211,927 (GRCm39) |
C98G |
possibly damaging |
Het |
| Ugt2b36 |
T |
A |
5: 87,240,190 (GRCm39) |
D65V |
probably damaging |
Het |
| Unc93b1 |
A |
T |
19: 3,985,243 (GRCm39) |
D17V |
not run |
Het |
| Usf1 |
G |
T |
1: 171,245,462 (GRCm39) |
W291C |
unknown |
Het |
| Vps29 |
T |
C |
5: 122,500,180 (GRCm39) |
W97R |
possibly damaging |
Het |
| Zbtb6 |
T |
C |
2: 37,319,577 (GRCm39) |
E117G |
probably damaging |
Het |
| Zfp735 |
A |
C |
11: 73,601,629 (GRCm39) |
D191A |
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 |
|
|
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 |
|
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'- AATCCAAGTTCCCGCCATG -3'
(R):5'- TGAGTCCAGGTTGACCCTTC -3'
Sequencing Primer
(F):5'- AAGTTCCCGCCATGAGCAG -3'
(R):5'- TCTTGTACTCCGCGGCGAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation