Incidental Mutation 'R8525:Gucy1a2'
| ID |
658769 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy1a2
|
| Ensembl Gene |
ENSMUSG00000041624 |
| Gene Name |
guanylate cyclase 1, soluble, alpha 2 |
| Synonyms |
6330407I18Rik, A230060L24Rik |
| MMRRC Submission |
067950-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.279)
|
| Stock # |
R8525 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
3532778-3894736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3865365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 613
(I613K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115733]
|
| AlphaFold |
F8VQK3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115733
AA Change: I613K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000111398
Gene: ENSMUSG00000041624
AA Change: I613K
| 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: 99.0%
|
| Validation Efficiency |
98% (49/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
A |
T |
7: 27,255,936 (GRCm39) |
N8Y |
possibly damaging |
Het |
| 4932414N04Rik |
A |
T |
2: 68,559,378 (GRCm39) |
D197V |
possibly damaging |
Het |
| Aar2 |
G |
A |
2: 156,397,837 (GRCm39) |
R283Q |
probably benign |
Het |
| Acsf2 |
T |
A |
11: 94,463,446 (GRCm39) |
I119F |
probably benign |
Het |
| Adamtsl1 |
C |
T |
4: 86,195,247 (GRCm39) |
P572S |
probably damaging |
Het |
| Adh5 |
A |
T |
3: 138,157,095 (GRCm39) |
I219F |
probably damaging |
Het |
| Arhgap23 |
T |
A |
11: 97,380,910 (GRCm39) |
F1098I |
probably damaging |
Het |
| Bicc1 |
G |
T |
10: 70,779,365 (GRCm39) |
H674Q |
possibly damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,853 (GRCm39) |
R786H |
probably benign |
Het |
| Ccr1l1 |
A |
G |
9: 123,777,589 (GRCm39) |
I286T |
possibly damaging |
Het |
| Ccr9 |
T |
A |
9: 123,608,732 (GRCm39) |
M138K |
probably benign |
Het |
| Dbh |
T |
C |
2: 27,055,798 (GRCm39) |
F91L |
probably benign |
Het |
| Dip2a |
T |
A |
10: 76,110,115 (GRCm39) |
|
probably null |
Het |
| Eif3j1 |
A |
G |
2: 121,880,991 (GRCm39) |
I148V |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,534,892 (GRCm39) |
R116G |
probably damaging |
Het |
| Exoc6 |
C |
A |
19: 37,597,440 (GRCm39) |
Q614K |
possibly damaging |
Het |
| Gabpb1 |
A |
G |
2: 126,494,194 (GRCm39) |
S144P |
possibly damaging |
Het |
| Galnt13 |
G |
A |
2: 54,950,488 (GRCm39) |
V390M |
possibly damaging |
Het |
| Gimap5 |
T |
C |
6: 48,729,501 (GRCm39) |
S24P |
probably benign |
Het |
| Gm4924 |
T |
A |
10: 82,213,701 (GRCm39) |
|
probably benign |
Het |
| Hsp90ab1 |
T |
A |
17: 45,880,726 (GRCm39) |
E115D |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,266,759 (GRCm39) |
V1949A |
probably damaging |
Het |
| Ice2 |
A |
G |
9: 69,318,698 (GRCm39) |
Y294C |
probably damaging |
Het |
| Il17ra |
T |
G |
6: 120,451,298 (GRCm39) |
Y157* |
probably null |
Het |
| Ipo13 |
T |
C |
4: 117,762,126 (GRCm39) |
E416G |
probably damaging |
Het |
| Large1 |
C |
T |
8: 73,564,120 (GRCm39) |
V549M |
probably damaging |
Het |
| Mmp17 |
A |
G |
5: 129,679,271 (GRCm39) |
D390G |
probably damaging |
Het |
| Mrps10 |
T |
G |
17: 47,683,371 (GRCm39) |
I102R |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,450,155 (GRCm39) |
L1712P |
probably damaging |
Het |
| Nipal2 |
A |
G |
15: 34,584,815 (GRCm39) |
M251T |
probably damaging |
Het |
| Nup160 |
G |
A |
2: 90,548,440 (GRCm39) |
|
probably null |
Het |
| Or5ac19 |
A |
T |
16: 59,089,571 (GRCm39) |
V153D |
probably benign |
Het |
| Or6f2 |
T |
C |
7: 139,756,255 (GRCm39) |
I74T |
probably damaging |
Het |
| Pdcd11 |
G |
A |
19: 47,081,337 (GRCm39) |
D34N |
possibly damaging |
Het |
| Pigb |
G |
T |
9: 72,924,809 (GRCm39) |
P450Q |
probably damaging |
Het |
| Radil |
A |
C |
5: 142,474,256 (GRCm39) |
L730R |
probably damaging |
Het |
| Rsbn1 |
G |
T |
3: 103,821,538 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
T |
C |
3: 129,805,467 (GRCm39) |
D264G |
probably damaging |
Het |
| Shank3 |
C |
G |
15: 89,431,973 (GRCm39) |
S906C |
probably damaging |
Het |
| Slc1a3 |
A |
G |
15: 8,672,459 (GRCm39) |
V340A |
possibly damaging |
Het |
| Slc1a3 |
A |
T |
15: 8,680,423 (GRCm39) |
I145N |
possibly damaging |
Het |
| Slc35f4 |
A |
T |
14: 49,541,681 (GRCm39) |
S208T |
possibly damaging |
Het |
| Spopfm1 |
A |
G |
3: 94,173,862 (GRCm39) |
N290S |
probably benign |
Het |
| Tmem132b |
A |
G |
5: 125,715,380 (GRCm39) |
D363G |
probably benign |
Het |
| Tox3 |
T |
G |
8: 91,001,309 (GRCm39) |
N34T |
probably damaging |
Het |
| Vmn1r231 |
T |
A |
17: 21,110,001 (GRCm39) |
I305L |
probably benign |
Het |
| Vps18 |
A |
G |
2: 119,120,711 (GRCm39) |
I57V |
possibly damaging |
Het |
| Zfhx4 |
T |
G |
3: 5,464,603 (GRCm39) |
L1587R |
probably damaging |
Het |
| Zfp112 |
A |
G |
7: 23,825,322 (GRCm39) |
N430S |
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 |
|
R7866:Gucy1a2
|
UTSW |
9 |
3,532,804 (GRCm39) |
start codon destroyed |
probably null |
|
|
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'- CCAGAATGATGGGCTAAACTCAG -3'
(R):5'- TCATGTGAATGAAGATGCCAAG -3'
Sequencing Primer
(F):5'- AGGTCTGGTTCGATATCCAGCAC -3'
(R):5'- GAGGGACAAATCAGAGAACACTTAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation