Incidental Mutation 'IGL01800:Gucy1b2'
ID |
155483 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gucy1b2
|
Ensembl Gene |
ENSMUSG00000021933 |
Gene Name |
guanylate cyclase 1, soluble, beta 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.447)
|
Stock # |
IGL01800
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
62630125-62693738 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 62649104 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 476
(M476V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128114
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022501]
[ENSMUST00000165651]
|
AlphaFold |
Q8BXH3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022501
AA Change: M491V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000022501 Gene: ENSMUSG00000021933 AA Change: M491V
Domain | Start | End | E-Value | Type |
Pfam:HNOB
|
83 |
244 |
6e-60 |
PFAM |
Blast:CYCc
|
263 |
362 |
3e-24 |
BLAST |
PDB:4GJ4|D
|
350 |
471 |
4e-8 |
PDB |
CYCc
|
513 |
712 |
1.11e-108 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165651
AA Change: M476V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000128114 Gene: ENSMUSG00000021933 AA Change: M476V
Domain | Start | End | E-Value | Type |
Pfam:HNOB
|
82 |
250 |
1.1e-53 |
PFAM |
Blast:CYCc
|
263 |
347 |
6e-25 |
BLAST |
PDB:4GJ4|D
|
335 |
456 |
5e-8 |
PDB |
CYCc
|
498 |
697 |
1.11e-108 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a normal hyperventilation response to a 10% oxygen environment. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
G |
19: 43,772,734 (GRCm39) |
Y48C |
possibly damaging |
Het |
Acsm3 |
T |
C |
7: 119,373,866 (GRCm39) |
S251P |
possibly damaging |
Het |
Ano5 |
G |
A |
7: 51,222,823 (GRCm39) |
|
probably null |
Het |
Ccdc65 |
C |
T |
15: 98,606,946 (GRCm39) |
A51V |
probably benign |
Het |
Cspg5 |
A |
G |
9: 110,080,218 (GRCm39) |
|
probably benign |
Het |
Dhx30 |
A |
G |
9: 109,914,581 (GRCm39) |
V935A |
possibly damaging |
Het |
Disp3 |
T |
A |
4: 148,334,258 (GRCm39) |
K1012* |
probably null |
Het |
Dock2 |
T |
C |
11: 34,647,100 (GRCm39) |
N18S |
probably damaging |
Het |
Dst |
A |
T |
1: 34,301,173 (GRCm39) |
I1180F |
probably damaging |
Het |
Elp2 |
A |
G |
18: 24,750,548 (GRCm39) |
Y295C |
probably benign |
Het |
Eml2 |
A |
G |
7: 18,935,122 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
G |
3: 39,035,878 (GRCm39) |
T3177A |
probably damaging |
Het |
Flrt2 |
A |
T |
12: 95,746,462 (GRCm39) |
I267F |
probably damaging |
Het |
Gm5611 |
T |
G |
9: 16,941,767 (GRCm39) |
|
noncoding transcript |
Het |
Gstcd |
A |
G |
3: 132,790,335 (GRCm39) |
|
probably null |
Het |
Jak2 |
A |
G |
19: 29,263,693 (GRCm39) |
|
probably benign |
Het |
Kcnt1 |
T |
C |
2: 25,778,137 (GRCm39) |
F85S |
probably damaging |
Het |
Kcnu1 |
G |
A |
8: 26,427,528 (GRCm39) |
V282M |
probably damaging |
Het |
Lancl1 |
T |
G |
1: 67,060,029 (GRCm39) |
E132A |
probably benign |
Het |
Or4g7 |
T |
C |
2: 111,309,209 (GRCm39) |
F27L |
probably benign |
Het |
Or5b106 |
A |
G |
19: 13,123,993 (GRCm39) |
F10S |
probably damaging |
Het |
Pigm |
G |
A |
1: 172,204,770 (GRCm39) |
A169T |
probably damaging |
Het |
Ppargc1a |
A |
G |
5: 51,652,063 (GRCm39) |
Y212H |
probably damaging |
Het |
Ppp1r13l |
A |
T |
7: 19,111,936 (GRCm39) |
|
probably benign |
Het |
Pramel12 |
T |
C |
4: 143,145,650 (GRCm39) |
L373P |
probably damaging |
Het |
Rictor |
T |
C |
15: 6,804,182 (GRCm39) |
I554T |
probably damaging |
Het |
Sbno1 |
G |
A |
5: 124,519,568 (GRCm39) |
|
probably benign |
Het |
Sesn2 |
G |
T |
4: 132,226,418 (GRCm39) |
L194I |
probably damaging |
Het |
Slc26a2 |
A |
T |
18: 61,334,801 (GRCm39) |
Y217* |
probably null |
Het |
Sptbn5 |
G |
T |
2: 119,886,908 (GRCm39) |
|
probably benign |
Het |
Tmem184a |
A |
T |
5: 139,798,899 (GRCm39) |
S17T |
possibly damaging |
Het |
Trhr |
T |
C |
15: 44,092,603 (GRCm39) |
M280T |
possibly damaging |
Het |
Ube2j1 |
A |
T |
4: 33,045,115 (GRCm39) |
E129D |
probably benign |
Het |
Ube4b |
A |
T |
4: 149,415,951 (GRCm39) |
S3T |
probably damaging |
Het |
Vmn2r49 |
A |
T |
7: 9,710,601 (GRCm39) |
C710* |
probably null |
Het |
Vmn2r82 |
C |
T |
10: 79,192,581 (GRCm39) |
R53C |
probably benign |
Het |
Zdhhc2 |
T |
C |
8: 40,917,284 (GRCm39) |
L227P |
probably damaging |
Het |
Zfp995 |
A |
C |
17: 22,099,972 (GRCm39) |
H87Q |
possibly damaging |
Het |
|
Other mutations in Gucy1b2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00235:Gucy1b2
|
APN |
14 |
62,643,694 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00465:Gucy1b2
|
APN |
14 |
62,640,649 (GRCm39) |
missense |
probably benign |
|
IGL00756:Gucy1b2
|
APN |
14 |
62,640,658 (GRCm39) |
missense |
probably benign |
|
IGL01875:Gucy1b2
|
APN |
14 |
62,657,595 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03033:Gucy1b2
|
APN |
14 |
62,653,393 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03110:Gucy1b2
|
APN |
14 |
62,671,283 (GRCm39) |
splice site |
probably benign |
|
IGL02796:Gucy1b2
|
UTSW |
14 |
62,645,143 (GRCm39) |
missense |
probably benign |
0.42 |
R0183:Gucy1b2
|
UTSW |
14 |
62,656,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R0605:Gucy1b2
|
UTSW |
14 |
62,640,608 (GRCm39) |
splice site |
probably benign |
|
R0815:Gucy1b2
|
UTSW |
14 |
62,656,511 (GRCm39) |
missense |
probably benign |
0.00 |
R0863:Gucy1b2
|
UTSW |
14 |
62,656,511 (GRCm39) |
missense |
probably benign |
0.00 |
R0972:Gucy1b2
|
UTSW |
14 |
62,651,818 (GRCm39) |
missense |
possibly damaging |
0.61 |
R0972:Gucy1b2
|
UTSW |
14 |
62,646,127 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1438:Gucy1b2
|
UTSW |
14 |
62,651,770 (GRCm39) |
missense |
probably damaging |
0.98 |
R2011:Gucy1b2
|
UTSW |
14 |
62,646,207 (GRCm39) |
missense |
probably damaging |
0.99 |
R2409:Gucy1b2
|
UTSW |
14 |
62,643,628 (GRCm39) |
frame shift |
probably null |
|
R3692:Gucy1b2
|
UTSW |
14 |
62,642,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R4484:Gucy1b2
|
UTSW |
14 |
62,649,038 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4715:Gucy1b2
|
UTSW |
14 |
62,660,466 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4730:Gucy1b2
|
UTSW |
14 |
62,645,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R4812:Gucy1b2
|
UTSW |
14 |
62,653,346 (GRCm39) |
splice site |
probably null |
|
R4839:Gucy1b2
|
UTSW |
14 |
62,685,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R5261:Gucy1b2
|
UTSW |
14 |
62,642,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R5326:Gucy1b2
|
UTSW |
14 |
62,690,779 (GRCm39) |
critical splice donor site |
probably null |
|
R5656:Gucy1b2
|
UTSW |
14 |
62,660,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R5779:Gucy1b2
|
UTSW |
14 |
62,651,750 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6000:Gucy1b2
|
UTSW |
14 |
62,656,499 (GRCm39) |
missense |
probably benign |
0.00 |
R6274:Gucy1b2
|
UTSW |
14 |
62,653,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R7457:Gucy1b2
|
UTSW |
14 |
62,630,401 (GRCm39) |
missense |
probably benign |
0.08 |
R7487:Gucy1b2
|
UTSW |
14 |
62,685,672 (GRCm39) |
missense |
probably damaging |
0.97 |
R7607:Gucy1b2
|
UTSW |
14 |
62,656,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R8030:Gucy1b2
|
UTSW |
14 |
62,630,319 (GRCm39) |
missense |
probably benign |
|
R8285:Gucy1b2
|
UTSW |
14 |
62,657,556 (GRCm39) |
missense |
probably damaging |
0.98 |
R8287:Gucy1b2
|
UTSW |
14 |
62,649,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R8970:Gucy1b2
|
UTSW |
14 |
62,656,664 (GRCm39) |
missense |
possibly damaging |
0.95 |
RF030:Gucy1b2
|
UTSW |
14 |
62,646,090 (GRCm39) |
critical splice donor site |
probably benign |
|
RF035:Gucy1b2
|
UTSW |
14 |
62,646,090 (GRCm39) |
critical splice donor site |
probably benign |
|
Z1177:Gucy1b2
|
UTSW |
14 |
62,690,902 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2014-02-04 |