Incidental Mutation 'R9462:Gucy2g'
| ID |
714976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2g
|
| Ensembl Gene |
ENSMUSG00000055523 |
| Gene Name |
guanylate cyclase 2g |
| Synonyms |
2410077I05Rik, GC-G |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9462 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
55186531-55229668 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 55221469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069183]
|
| AlphaFold |
Q6TL19 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069183
|
| SMART Domains |
Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
65 |
416 |
5.2e-36 |
PFAM |
|
low complexity region
|
471 |
487 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
574 |
826 |
2e-26 |
PFAM |
|
Pfam:Pkinase_Tyr
|
577 |
826 |
6e-35 |
PFAM |
|
CYCc
|
865 |
1059 |
6.42e-96 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with no gross abnormalities and are protected against acute ischemia induced renal injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
G |
A |
4: 103,092,964 (GRCm39) |
T220I |
probably benign |
Het |
| Abca8b |
T |
A |
11: 109,844,433 (GRCm39) |
H928L |
|
Het |
| Ahnak |
A |
T |
19: 8,981,299 (GRCm39) |
D861V |
probably damaging |
Het |
| Ahnak2 |
C |
A |
12: 112,750,655 (GRCm39) |
R89L |
|
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Anks6 |
A |
G |
4: 47,033,142 (GRCm39) |
L573P |
unknown |
Het |
| Ano5 |
T |
C |
7: 51,235,200 (GRCm39) |
V711A |
probably benign |
Het |
| Arl2bp |
C |
A |
8: 95,398,755 (GRCm39) |
A120D |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 64,038,328 (GRCm39) |
Y223H |
probably damaging |
Het |
| Atp7b |
A |
T |
8: 22,490,160 (GRCm39) |
M1151K |
probably damaging |
Het |
| B4galnt3 |
A |
T |
6: 120,271,438 (GRCm39) |
L28Q |
probably null |
Het |
| Ccdc39 |
T |
C |
3: 33,868,519 (GRCm39) |
K856E |
probably benign |
Het |
| Ccr9 |
A |
G |
9: 123,608,600 (GRCm39) |
D94G |
probably damaging |
Het |
| Cdan1 |
A |
G |
2: 120,560,060 (GRCm39) |
I368T |
possibly damaging |
Het |
| Cdhr17 |
G |
T |
5: 17,027,213 (GRCm39) |
A379S |
|
Het |
| Cfap54 |
T |
C |
10: 92,737,920 (GRCm39) |
Q2326R |
unknown |
Het |
| Chrm3 |
T |
C |
13: 9,927,437 (GRCm39) |
Y533C |
|
Het |
| Ckap4 |
C |
T |
10: 84,363,924 (GRCm39) |
E380K |
possibly damaging |
Het |
| Cntnap2 |
T |
C |
6: 46,211,217 (GRCm39) |
F544L |
probably damaging |
Het |
| Cwh43 |
A |
G |
5: 73,591,695 (GRCm39) |
K596R |
probably benign |
Het |
| Cyp26c1 |
A |
G |
19: 37,681,634 (GRCm39) |
E479G |
probably damaging |
Het |
| Deup1 |
A |
G |
9: 15,493,882 (GRCm39) |
V420A |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,551,523 (GRCm39) |
V2932A |
probably benign |
Het |
| Dthd1 |
G |
A |
5: 63,039,626 (GRCm39) |
R676H |
probably benign |
Het |
| Eef1e1 |
A |
G |
13: 38,838,997 (GRCm39) |
L120P |
probably damaging |
Het |
| Elane |
T |
C |
10: 79,723,883 (GRCm39) |
S244P |
probably benign |
Het |
| Esp6 |
A |
G |
17: 40,876,315 (GRCm39) |
E121G |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,299,775 (GRCm39) |
E326G |
probably damaging |
Het |
| Fut2 |
G |
T |
7: 45,300,492 (GRCm39) |
N93K |
probably damaging |
Het |
| Garin5b |
A |
G |
7: 4,761,330 (GRCm39) |
S461P |
|
Het |
| Gm12695 |
A |
G |
4: 96,651,075 (GRCm39) |
V126A |
probably benign |
Het |
| Hbs1l |
T |
C |
10: 21,218,304 (GRCm39) |
V267A |
probably damaging |
Het |
| Hsd17b1 |
A |
T |
11: 100,969,806 (GRCm39) |
N106I |
possibly damaging |
Het |
| Ino80d |
G |
A |
1: 63,097,393 (GRCm39) |
L939F |
probably damaging |
Het |
| Lilra6 |
A |
G |
7: 3,914,994 (GRCm39) |
W505R |
probably damaging |
Het |
| Map3k14 |
T |
A |
11: 103,118,360 (GRCm39) |
K609* |
probably null |
Het |
| Mark1 |
T |
A |
1: 184,651,868 (GRCm39) |
K212N |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,415,216 (GRCm39) |
C2721S |
|
Het |
| Myh4 |
A |
G |
11: 67,141,811 (GRCm39) |
D890G |
possibly damaging |
Het |
| Mylk2 |
T |
G |
2: 152,761,373 (GRCm39) |
L492R |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,467,729 (GRCm39) |
Y1134* |
probably null |
Het |
| N4bp2 |
G |
A |
5: 65,947,898 (GRCm39) |
G176D |
probably benign |
Het |
| Ncstn |
A |
C |
1: 171,899,707 (GRCm39) |
M325R |
probably damaging |
Het |
| Ndor1 |
C |
T |
2: 25,144,875 (GRCm39) |
|
probably null |
Het |
| Notch4 |
G |
A |
17: 34,806,667 (GRCm39) |
R1868H |
probably benign |
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Or2b2b |
A |
T |
13: 21,859,015 (GRCm39) |
V33E |
probably benign |
Het |
| Or8s16 |
T |
A |
15: 98,211,186 (GRCm39) |
N82Y |
possibly damaging |
Het |
| Oxct2a |
G |
T |
4: 123,216,441 (GRCm39) |
D313E |
probably damaging |
Het |
| Pcdha2 |
T |
A |
18: 37,073,546 (GRCm39) |
H392Q |
probably benign |
Het |
| Pcdhb20 |
T |
G |
18: 37,639,799 (GRCm39) |
L775R |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,840,408 (GRCm39) |
D1449G |
|
Het |
| Pcx |
A |
G |
19: 4,651,970 (GRCm39) |
T73A |
probably benign |
Het |
| Pou6f2 |
A |
G |
13: 18,314,189 (GRCm39) |
S395P |
probably benign |
Het |
| Prss35 |
C |
G |
9: 86,638,392 (GRCm39) |
I387M |
|
Het |
| Radil |
C |
A |
5: 142,471,220 (GRCm39) |
D1019Y |
probably damaging |
Het |
| Rnf40 |
G |
T |
7: 127,191,010 (GRCm39) |
|
probably null |
Het |
| Scarb1 |
A |
T |
5: 125,417,891 (GRCm39) |
L19Q |
probably damaging |
Het |
| Scn8a |
T |
A |
15: 100,930,159 (GRCm39) |
F1457I |
|
Het |
| Sdk2 |
C |
T |
11: 113,760,744 (GRCm39) |
V339I |
possibly damaging |
Het |
| Siglec1 |
A |
G |
2: 130,916,404 (GRCm39) |
L1182P |
probably damaging |
Het |
| Slc4a4 |
G |
A |
5: 89,194,131 (GRCm39) |
V204I |
probably damaging |
Het |
| Sp9 |
T |
C |
2: 73,104,243 (GRCm39) |
S266P |
probably benign |
Het |
| Spata21 |
A |
G |
4: 140,831,316 (GRCm39) |
E421G |
probably damaging |
Het |
| Sulf1 |
C |
T |
1: 12,929,459 (GRCm39) |
P242L |
probably damaging |
Het |
| Sval3 |
G |
A |
6: 41,945,105 (GRCm39) |
G11E |
possibly damaging |
Het |
| Tecta |
T |
A |
9: 42,248,576 (GRCm39) |
Y1942F |
probably damaging |
Het |
| Thbs2 |
C |
T |
17: 14,890,243 (GRCm39) |
G1121D |
probably damaging |
Het |
| Thrap3 |
G |
T |
4: 126,070,048 (GRCm39) |
S613* |
probably null |
Het |
| Ttc34 |
A |
C |
4: 154,942,539 (GRCm39) |
K59Q |
probably damaging |
Het |
| Tut7 |
A |
T |
13: 59,929,957 (GRCm39) |
L1428H |
possibly damaging |
Het |
| Ube4b |
A |
T |
4: 149,444,748 (GRCm39) |
L504Q |
probably damaging |
Het |
| Uncx |
A |
T |
5: 139,529,771 (GRCm39) |
E8V |
probably damaging |
Het |
| Vmn1r79 |
A |
T |
7: 11,910,261 (GRCm39) |
I48F |
probably damaging |
Het |
| Vmn2r99 |
C |
A |
17: 19,598,388 (GRCm39) |
Y137* |
probably null |
Het |
| Zfp354b |
G |
A |
11: 50,814,523 (GRCm39) |
T134I |
probably benign |
Het |
| Zfp618 |
G |
A |
4: 63,051,510 (GRCm39) |
V764I |
possibly damaging |
Het |
| Zfp873 |
T |
G |
10: 81,897,131 (GRCm39) |
C621G |
probably benign |
Het |
|
| Other mutations in Gucy2g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00801:Gucy2g
|
APN |
19 |
55,221,535 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01954:Gucy2g
|
APN |
19 |
55,187,123 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01969:Gucy2g
|
APN |
19 |
55,215,870 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02164:Gucy2g
|
APN |
19 |
55,226,455 (GRCm39) |
missense |
probably benign |
|
|
IGL02534:Gucy2g
|
APN |
19 |
55,229,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02667:Gucy2g
|
APN |
19 |
55,194,609 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02755:Gucy2g
|
APN |
19 |
55,198,786 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03187:Gucy2g
|
APN |
19 |
55,219,484 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03354:Gucy2g
|
APN |
19 |
55,221,512 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4366001:Gucy2g
|
UTSW |
19 |
55,226,214 (GRCm39) |
missense |
probably null |
0.51 |
|
R0040:Gucy2g
|
UTSW |
19 |
55,205,734 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0126:Gucy2g
|
UTSW |
19 |
55,229,598 (GRCm39) |
missense |
probably benign |
|
|
R0318:Gucy2g
|
UTSW |
19 |
55,226,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0576:Gucy2g
|
UTSW |
19 |
55,187,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0604:Gucy2g
|
UTSW |
19 |
55,191,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0962:Gucy2g
|
UTSW |
19 |
55,198,716 (GRCm39) |
nonsense |
probably null |
|
|
R1348:Gucy2g
|
UTSW |
19 |
55,211,338 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1458:Gucy2g
|
UTSW |
19 |
55,203,468 (GRCm39) |
splice site |
probably benign |
|
|
R1693:Gucy2g
|
UTSW |
19 |
55,211,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1795:Gucy2g
|
UTSW |
19 |
55,187,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1804:Gucy2g
|
UTSW |
19 |
55,198,741 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1830:Gucy2g
|
UTSW |
19 |
55,211,362 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1902:Gucy2g
|
UTSW |
19 |
55,198,669 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1927:Gucy2g
|
UTSW |
19 |
55,226,191 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1969:Gucy2g
|
UTSW |
19 |
55,221,485 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1969:Gucy2g
|
UTSW |
19 |
55,211,328 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2071:Gucy2g
|
UTSW |
19 |
55,210,772 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2842:Gucy2g
|
UTSW |
19 |
55,229,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2971:Gucy2g
|
UTSW |
19 |
55,198,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4202:Gucy2g
|
UTSW |
19 |
55,218,201 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4405:Gucy2g
|
UTSW |
19 |
55,226,269 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4407:Gucy2g
|
UTSW |
19 |
55,226,269 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4614:Gucy2g
|
UTSW |
19 |
55,190,579 (GRCm39) |
nonsense |
probably null |
|
|
R4671:Gucy2g
|
UTSW |
19 |
55,226,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4684:Gucy2g
|
UTSW |
19 |
55,194,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4837:Gucy2g
|
UTSW |
19 |
55,214,485 (GRCm39) |
missense |
probably benign |
|
|
R4969:Gucy2g
|
UTSW |
19 |
55,214,445 (GRCm39) |
missense |
probably benign |
|
|
R5050:Gucy2g
|
UTSW |
19 |
55,229,367 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5059:Gucy2g
|
UTSW |
19 |
55,214,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5070:Gucy2g
|
UTSW |
19 |
55,218,219 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5288:Gucy2g
|
UTSW |
19 |
55,203,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Gucy2g
|
UTSW |
19 |
55,203,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Gucy2g
|
UTSW |
19 |
55,203,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5497:Gucy2g
|
UTSW |
19 |
55,187,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5531:Gucy2g
|
UTSW |
19 |
55,229,572 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5536:Gucy2g
|
UTSW |
19 |
55,226,359 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5679:Gucy2g
|
UTSW |
19 |
55,219,511 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5715:Gucy2g
|
UTSW |
19 |
55,221,587 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5941:Gucy2g
|
UTSW |
19 |
55,203,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6250:Gucy2g
|
UTSW |
19 |
55,205,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6288:Gucy2g
|
UTSW |
19 |
55,215,945 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6378:Gucy2g
|
UTSW |
19 |
55,229,377 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6605:Gucy2g
|
UTSW |
19 |
55,229,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7020:Gucy2g
|
UTSW |
19 |
55,221,482 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7064:Gucy2g
|
UTSW |
19 |
55,198,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7078:Gucy2g
|
UTSW |
19 |
55,229,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7402:Gucy2g
|
UTSW |
19 |
55,194,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7539:Gucy2g
|
UTSW |
19 |
55,191,586 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7561:Gucy2g
|
UTSW |
19 |
55,194,772 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7583:Gucy2g
|
UTSW |
19 |
55,224,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7804:Gucy2g
|
UTSW |
19 |
55,216,584 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7880:Gucy2g
|
UTSW |
19 |
55,194,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8442:Gucy2g
|
UTSW |
19 |
55,205,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8559:Gucy2g
|
UTSW |
19 |
55,198,786 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8970:Gucy2g
|
UTSW |
19 |
55,191,478 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8972:Gucy2g
|
UTSW |
19 |
55,226,406 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9085:Gucy2g
|
UTSW |
19 |
55,221,597 (GRCm39) |
nonsense |
probably null |
|
|
R9390:Gucy2g
|
UTSW |
19 |
55,190,607 (GRCm39) |
missense |
probably null |
1.00 |
|
R9502:Gucy2g
|
UTSW |
19 |
55,198,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9610:Gucy2g
|
UTSW |
19 |
55,194,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9611:Gucy2g
|
UTSW |
19 |
55,194,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9644:Gucy2g
|
UTSW |
19 |
55,219,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1177:Gucy2g
|
UTSW |
19 |
55,198,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTACTGTTTATTTTGGGCTAGG -3'
(R):5'- GTCATTTCTTACAGCACGGTGAC -3'
Sequencing Primer
(F):5'- ATTTTGGGCTAGGGAAGATGTG -3'
(R):5'- CAGTTTTTGGAAGGAAGTACTGAC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation