Incidental Mutation 'R2166:Gucy1a2'
ID |
235494 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gucy1a2
|
Ensembl Gene |
ENSMUSG00000041624 |
Gene Name |
guanylate cyclase 1, soluble, alpha 2 |
Synonyms |
6330407I18Rik, A230060L24Rik |
MMRRC Submission |
040169-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.279)
|
Stock # |
R2166 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
3532778-3894736 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 3579513 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 null
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212705
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213060
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (42/42) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
T |
13: 81,716,762 (GRCm39) |
F779I |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Birc6 |
A |
T |
17: 74,942,790 (GRCm39) |
T2761S |
probably benign |
Het |
Cav1 |
A |
T |
6: 17,339,430 (GRCm39) |
I141F |
possibly damaging |
Het |
Cmklr2 |
A |
G |
1: 63,223,107 (GRCm39) |
F43L |
probably benign |
Het |
Gm973 |
A |
G |
1: 59,565,898 (GRCm39) |
D39G |
possibly damaging |
Het |
Il1b |
A |
T |
2: 129,206,968 (GRCm39) |
M264K |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,365,186 (GRCm39) |
Y38C |
probably damaging |
Het |
Kcnb2 |
A |
C |
1: 15,781,540 (GRCm39) |
D804A |
possibly damaging |
Het |
Kcnt1 |
T |
A |
2: 25,781,195 (GRCm39) |
|
probably benign |
Het |
Krt6b |
T |
C |
15: 101,587,050 (GRCm39) |
|
probably null |
Het |
Mef2a |
A |
G |
7: 66,915,870 (GRCm39) |
V144A |
probably damaging |
Het |
Mroh3 |
A |
G |
1: 136,113,791 (GRCm39) |
M666T |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Nalcn |
T |
A |
14: 123,607,363 (GRCm39) |
Y702F |
probably benign |
Het |
Napepld |
T |
A |
5: 21,888,230 (GRCm39) |
K73I |
possibly damaging |
Het |
Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
Or8g21 |
G |
A |
9: 38,906,513 (GRCm39) |
Q73* |
probably null |
Het |
Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
Plbd1 |
A |
G |
6: 136,590,788 (GRCm39) |
|
probably null |
Het |
Ppp1r10 |
G |
T |
17: 36,241,481 (GRCm39) |
R752L |
unknown |
Het |
Prep |
T |
C |
10: 44,968,751 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 23,045,632 (GRCm39) |
N2134S |
possibly damaging |
Het |
Rhbdl3 |
A |
G |
11: 80,210,523 (GRCm39) |
Y92C |
probably damaging |
Het |
Rtkn2 |
T |
C |
10: 67,877,526 (GRCm39) |
S532P |
possibly damaging |
Het |
Rtl1 |
T |
A |
12: 109,556,988 (GRCm39) |
H1617L |
probably damaging |
Het |
Skint6 |
T |
A |
4: 112,711,649 (GRCm39) |
N956I |
probably benign |
Het |
Slc13a2 |
A |
G |
11: 78,293,901 (GRCm39) |
V287A |
probably benign |
Het |
Slc9a2 |
A |
G |
1: 40,781,928 (GRCm39) |
K386E |
probably damaging |
Het |
Spata20 |
G |
A |
11: 94,369,930 (GRCm39) |
H789Y |
probably benign |
Het |
Stk19 |
A |
G |
17: 35,051,486 (GRCm39) |
I23T |
possibly damaging |
Het |
Tonsl |
A |
G |
15: 76,521,513 (GRCm39) |
I293T |
probably benign |
Het |
Topbp1 |
A |
G |
9: 103,190,128 (GRCm39) |
|
probably null |
Het |
Trappc2l |
T |
A |
8: 123,339,901 (GRCm39) |
S44T |
probably benign |
Het |
Tsr1 |
A |
G |
11: 74,798,280 (GRCm39) |
|
probably null |
Het |
Ugdh |
A |
G |
5: 65,574,357 (GRCm39) |
|
probably benign |
Het |
Unc119 |
A |
G |
11: 78,238,161 (GRCm39) |
|
probably null |
Het |
Zkscan14 |
G |
A |
5: 145,132,944 (GRCm39) |
P196S |
probably benign |
Het |
Zmat4 |
T |
C |
8: 24,392,152 (GRCm39) |
L36P |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGAAACTGGGCAATTGC -3'
(R):5'- CAAAGCCTCTATTTGGTACTGAC -3'
Sequencing Primer
(F):5'- AACTGGGCAATTGCTGACTG -3'
(R):5'- AAGCCTCTATTTGGTACTGACAATCC -3'
|
Posted On |
2014-10-01 |