Incidental Mutation 'R1830:Gucy2g'
| ID |
207288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2g
|
| Ensembl Gene |
ENSMUSG00000055523 |
| Gene Name |
guanylate cyclase 2g |
| Synonyms |
2410077I05Rik, GC-G |
| MMRRC Submission |
039857-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1830 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
55186531-55229668 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55211362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 623
(T623S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069183]
|
| AlphaFold |
Q6TL19 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069183
AA Change: T623S
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: T623S
| 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: 97.5%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.4%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,240,350 (GRCm39) |
S738P |
probably benign |
Het |
| Abi3bp |
C |
A |
16: 56,408,348 (GRCm39) |
P261Q |
probably damaging |
Het |
| Adam19 |
A |
G |
11: 46,018,105 (GRCm39) |
N389S |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,637,196 (GRCm39) |
V3415D |
possibly damaging |
Het |
| Ankrd33 |
A |
T |
15: 101,017,432 (GRCm39) |
I282F |
probably damaging |
Het |
| Arhgap39 |
C |
T |
15: 76,619,383 (GRCm39) |
V734M |
probably damaging |
Het |
| Arsg |
T |
C |
11: 109,454,100 (GRCm39) |
|
probably null |
Het |
| Atp8b4 |
C |
T |
2: 126,245,301 (GRCm39) |
G283R |
probably benign |
Het |
| B3galnt2 |
T |
G |
13: 14,166,119 (GRCm39) |
L338* |
probably null |
Het |
| Cdc14a |
A |
T |
3: 116,216,296 (GRCm39) |
Y1* |
probably null |
Het |
| Ceacam16 |
T |
C |
7: 19,592,803 (GRCm39) |
E35G |
possibly damaging |
Het |
| Cfap46 |
T |
A |
7: 139,220,323 (GRCm39) |
D1244V |
possibly damaging |
Het |
| Chordc1 |
T |
C |
9: 18,223,274 (GRCm39) |
Y245H |
probably damaging |
Het |
| Col6a6 |
C |
A |
9: 105,579,469 (GRCm39) |
V1919F |
probably damaging |
Het |
| Colgalt1 |
T |
C |
8: 72,075,781 (GRCm39) |
V476A |
probably damaging |
Het |
| Cped1 |
T |
C |
6: 22,237,727 (GRCm39) |
C948R |
probably damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,089,846 (GRCm39) |
D1189G |
probably damaging |
Het |
| Cyp27b1 |
T |
C |
10: 126,884,952 (GRCm39) |
Y72H |
possibly damaging |
Het |
| Dagla |
A |
G |
19: 10,248,378 (GRCm39) |
M94T |
probably benign |
Het |
| Dip2a |
A |
G |
10: 76,153,797 (GRCm39) |
S178P |
probably damaging |
Het |
| Dlec1 |
T |
C |
9: 118,967,858 (GRCm39) |
V1220A |
probably benign |
Het |
| Dpysl2 |
T |
C |
14: 67,105,840 (GRCm39) |
|
probably benign |
Het |
| E2f6 |
T |
C |
12: 16,868,884 (GRCm39) |
V69A |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,826,636 (GRCm39) |
T4439A |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,663,418 (GRCm39) |
I1023M |
probably damaging |
Het |
| Gabrr2 |
G |
A |
4: 33,077,481 (GRCm39) |
V83M |
probably damaging |
Het |
| Gfral |
T |
C |
9: 76,100,485 (GRCm39) |
N318D |
probably benign |
Het |
| Gm5611 |
A |
T |
9: 16,942,073 (GRCm39) |
|
noncoding transcript |
Het |
| Gpat3 |
A |
T |
5: 101,041,046 (GRCm39) |
M369L |
probably benign |
Het |
| Grik5 |
T |
C |
7: 24,745,726 (GRCm39) |
D449G |
possibly damaging |
Het |
| H2-T22 |
T |
C |
17: 36,352,434 (GRCm39) |
T164A |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,404,881 (GRCm39) |
C4484S |
possibly damaging |
Het |
| Hira |
T |
C |
16: 18,766,164 (GRCm39) |
S659P |
probably damaging |
Het |
| Hoxa7 |
T |
C |
6: 52,194,307 (GRCm39) |
T27A |
possibly damaging |
Het |
| Hoxd1 |
T |
C |
2: 74,593,866 (GRCm39) |
S141P |
probably damaging |
Het |
| Kank1 |
C |
A |
19: 25,388,396 (GRCm39) |
Q690K |
probably benign |
Het |
| Kera |
A |
G |
10: 97,445,009 (GRCm39) |
K123E |
probably benign |
Het |
| Kifbp |
T |
C |
10: 62,395,106 (GRCm39) |
Y512C |
probably damaging |
Het |
| Lepr |
A |
C |
4: 101,592,874 (GRCm39) |
Y163S |
probably damaging |
Het |
| Leprotl1 |
T |
C |
8: 34,607,922 (GRCm39) |
I29V |
probably benign |
Het |
| Lrriq1 |
T |
G |
10: 102,997,620 (GRCm39) |
T1332P |
probably benign |
Het |
| Mrps15 |
A |
G |
4: 125,949,200 (GRCm39) |
K223E |
probably damaging |
Het |
| Mrps7 |
T |
A |
11: 115,497,811 (GRCm39) |
N225K |
probably benign |
Het |
| Nav3 |
T |
A |
10: 109,659,184 (GRCm39) |
D811V |
probably damaging |
Het |
| Ndst3 |
T |
A |
3: 123,342,587 (GRCm39) |
R741S |
probably damaging |
Het |
| Nos3 |
T |
C |
5: 24,575,131 (GRCm39) |
Y356H |
probably damaging |
Het |
| Nxpe3 |
A |
G |
16: 55,686,444 (GRCm39) |
V188A |
probably damaging |
Het |
| Or13n4 |
T |
C |
7: 106,423,317 (GRCm39) |
R139G |
probably benign |
Het |
| Or5p50 |
T |
A |
7: 107,422,578 (GRCm39) |
I33F |
probably benign |
Het |
| Or8j3b |
T |
C |
2: 86,205,487 (GRCm39) |
K90E |
possibly damaging |
Het |
| Pdia4 |
A |
T |
6: 47,773,695 (GRCm39) |
C551* |
probably null |
Het |
| Pex13 |
A |
G |
11: 23,605,513 (GRCm39) |
F239S |
probably damaging |
Het |
| Pigq |
A |
G |
17: 26,153,980 (GRCm39) |
M273T |
probably benign |
Het |
| Plppr2 |
C |
T |
9: 21,859,047 (GRCm39) |
P388L |
probably damaging |
Het |
| Polr3b |
C |
T |
10: 84,528,786 (GRCm39) |
Q737* |
probably null |
Het |
| Ppfibp1 |
T |
C |
6: 146,923,757 (GRCm39) |
|
probably null |
Het |
| Ppfibp2 |
C |
A |
7: 107,236,504 (GRCm39) |
D17E |
probably damaging |
Het |
| Pramel34 |
A |
T |
5: 93,785,545 (GRCm39) |
I245K |
probably benign |
Het |
| Prr35 |
T |
C |
17: 26,165,691 (GRCm39) |
D532G |
possibly damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,691,325 (GRCm39) |
D1064G |
probably benign |
Het |
| Qtrt2 |
A |
T |
16: 43,692,018 (GRCm39) |
S168T |
probably damaging |
Het |
| Rbp3 |
T |
C |
14: 33,676,601 (GRCm39) |
V183A |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,062,655 (GRCm39) |
|
probably null |
Het |
| Slc39a10 |
T |
C |
1: 46,875,230 (GRCm39) |
H24R |
probably damaging |
Het |
| Slc7a13 |
A |
T |
4: 19,819,046 (GRCm39) |
H82L |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,782,569 (GRCm39) |
I502V |
probably benign |
Het |
| Syne2 |
C |
T |
12: 76,156,636 (GRCm39) |
R6811C |
probably damaging |
Het |
| Syt12 |
A |
G |
19: 4,506,911 (GRCm39) |
V78A |
probably benign |
Het |
| Tbck |
T |
A |
3: 132,543,772 (GRCm39) |
D874E |
probably benign |
Het |
| Tesc |
A |
T |
5: 118,184,394 (GRCm39) |
I25L |
probably damaging |
Het |
| Thoc5 |
T |
G |
11: 4,864,608 (GRCm39) |
D351E |
probably benign |
Het |
| Tor1aip1 |
A |
T |
1: 155,883,308 (GRCm39) |
M180K |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,524,532 (GRCm39) |
S842G |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 103,100,737 (GRCm39) |
T1858S |
probably damaging |
Het |
| Vmn1r193 |
T |
C |
13: 22,403,561 (GRCm39) |
T144A |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,318,576 (GRCm39) |
F1046S |
probably benign |
Het |
| Wdr26 |
A |
T |
1: 181,019,340 (GRCm39) |
W346R |
probably damaging |
Het |
| Zfp740 |
T |
A |
15: 102,116,336 (GRCm39) |
V22E |
probably damaging |
Het |
| Zw10 |
C |
A |
9: 48,981,041 (GRCm39) |
S480R |
probably damaging |
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 |
|
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 |
|
R9462:Gucy2g
|
UTSW |
19 |
55,221,469 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- AGCCCAAGGTAATTCAGGTC -3'
(R):5'- ACTTGGCTAATCTGGTTTGCTC -3'
Sequencing Primer
(F):5'- CCAAGGTAATTCAGGTCTCTCTATG -3'
(R):5'- AATTGTATCCCTGCAGCGG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation