Incidental Mutation 'R2409:Gucy1b2'
ID |
248143 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gucy1b2
|
Ensembl Gene |
ENSMUSG00000021933 |
Gene Name |
guanylate cyclase 1, soluble, beta 2 |
Synonyms |
|
MMRRC Submission |
040375-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.447)
|
Stock # |
R2409 (G1)
|
Quality Score |
162 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
62630125-62693738 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
CCGTGTTT to C
at 62643628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128114
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022501]
[ENSMUST00000165651]
|
AlphaFold |
Q8BXH3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000022501
|
SMART Domains |
Protein: ENSMUSP00000022501 Gene: ENSMUSG00000021933
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 null
Transcript: ENSMUST00000165651
|
SMART Domains |
Protein: ENSMUSP00000128114 Gene: ENSMUSG00000021933
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.0%
|
Validation Efficiency |
100% (32/32) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
C |
T |
5: 8,788,747 (GRCm39) |
T1042I |
probably benign |
Het |
Adamts13 |
A |
G |
2: 26,868,374 (GRCm39) |
T162A |
probably benign |
Het |
Adamts7 |
T |
A |
9: 90,062,740 (GRCm39) |
I398N |
probably damaging |
Het |
Cib2 |
A |
G |
9: 54,452,751 (GRCm39) |
|
probably null |
Het |
Cyp3a16 |
T |
C |
5: 145,377,177 (GRCm39) |
K470R |
probably benign |
Het |
Dpy19l2 |
A |
G |
9: 24,569,924 (GRCm39) |
M343T |
probably benign |
Het |
Dyrk2 |
A |
G |
10: 118,696,532 (GRCm39) |
V242A |
probably benign |
Het |
Extl3 |
T |
C |
14: 65,315,017 (GRCm39) |
D55G |
probably benign |
Het |
Fabp7 |
A |
G |
10: 57,661,772 (GRCm39) |
K82E |
possibly damaging |
Het |
Fat1 |
G |
T |
8: 45,493,567 (GRCm39) |
|
probably benign |
Het |
Gen1 |
A |
G |
12: 11,299,165 (GRCm39) |
I280T |
possibly damaging |
Het |
Gm5117 |
T |
C |
8: 32,227,306 (GRCm39) |
|
noncoding transcript |
Het |
Il3ra |
G |
A |
14: 14,349,377 (GRCm38) |
|
probably null |
Het |
Myo1f |
A |
G |
17: 33,795,641 (GRCm39) |
N66D |
probably damaging |
Het |
Nfkb1 |
C |
T |
3: 135,319,704 (GRCm39) |
E264K |
possibly damaging |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Or7d10 |
G |
T |
9: 19,832,072 (GRCm39) |
R189L |
probably benign |
Het |
Or7d10 |
G |
C |
9: 19,832,077 (GRCm39) |
D191H |
probably damaging |
Het |
Prdm10 |
A |
G |
9: 31,260,418 (GRCm39) |
H624R |
possibly damaging |
Het |
Rgs5 |
G |
T |
1: 169,504,451 (GRCm39) |
V34F |
possibly damaging |
Het |
Sec14l4 |
T |
C |
11: 3,990,048 (GRCm39) |
S116P |
probably benign |
Het |
Septin1 |
T |
C |
7: 126,815,143 (GRCm39) |
|
probably null |
Het |
Septin9 |
T |
A |
11: 117,251,287 (GRCm39) |
I535N |
probably damaging |
Het |
Sh2b1 |
C |
T |
7: 126,070,651 (GRCm39) |
G350D |
probably damaging |
Het |
Slc6a21 |
T |
C |
7: 44,929,750 (GRCm39) |
V107A |
probably benign |
Het |
Trim26 |
C |
A |
17: 37,161,895 (GRCm39) |
H105N |
probably damaging |
Het |
Trim71 |
A |
T |
9: 114,342,781 (GRCm39) |
D500E |
possibly damaging |
Het |
Vmn2r78 |
T |
A |
7: 86,569,953 (GRCm39) |
|
probably benign |
Het |
Vmn2r84 |
A |
G |
10: 130,227,940 (GRCm39) |
S99P |
probably 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 |
|
IGL01800:Gucy1b2
|
APN |
14 |
62,649,104 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATATTTCCTGCAGCCCCAGAG -3'
(R):5'- GCACTTGTCACAGAGCTAACC -3'
Sequencing Primer
(F):5'- CTGCAGCCCCAGAGAAGAAG -3'
(R):5'- GCTAACCGCTTTAATAGGCG -3'
|
Posted On |
2014-11-11 |