Incidental Mutation 'R6378:Gucy2g'
| ID |
515167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2g
|
| Ensembl Gene |
ENSMUSG00000055523 |
| Gene Name |
guanylate cyclase 2g |
| Synonyms |
2410077I05Rik, GC-G |
| MMRRC Submission |
044528-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6378 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
55186531-55229668 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55229377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 98
(S98G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069183]
|
| AlphaFold |
Q6TL19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069183
AA Change: S98G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: S98G
| 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: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
99% (80/81) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
A |
T |
15: 72,995,774 (GRCm39) |
D408E |
probably benign |
Het |
| Agpat2 |
T |
C |
2: 26,486,147 (GRCm39) |
N178S |
probably benign |
Het |
| Arsi |
T |
C |
18: 61,049,573 (GRCm39) |
F152S |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,734,367 (GRCm39) |
L1163Q |
probably benign |
Het |
| Bpifb2 |
T |
A |
2: 153,733,072 (GRCm39) |
L385Q |
possibly damaging |
Het |
| C330018D20Rik |
A |
G |
18: 57,095,579 (GRCm39) |
L2P |
probably damaging |
Het |
| Cby3 |
A |
G |
11: 50,250,360 (GRCm39) |
T189A |
probably damaging |
Het |
| Cdc42bpa |
A |
T |
1: 179,921,561 (GRCm39) |
D567V |
possibly damaging |
Het |
| Cdh5 |
T |
A |
8: 104,853,168 (GRCm39) |
|
probably null |
Het |
| Cela1 |
C |
T |
15: 100,585,071 (GRCm39) |
V20I |
probably benign |
Het |
| Cmpk2 |
G |
A |
12: 26,519,415 (GRCm39) |
G22E |
possibly damaging |
Het |
| Ctcf |
T |
A |
8: 106,390,423 (GRCm39) |
V10E |
possibly damaging |
Het |
| Dpp10 |
C |
A |
1: 123,339,468 (GRCm39) |
C353F |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,999,620 (GRCm39) |
S5546G |
possibly damaging |
Het |
| Elp3 |
G |
T |
14: 65,830,420 (GRCm39) |
Y10* |
probably null |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,755,646 (GRCm39) |
W336R |
probably damaging |
Het |
| Erich6 |
T |
C |
3: 58,529,780 (GRCm39) |
|
probably null |
Het |
| Eya1 |
T |
C |
1: 14,373,027 (GRCm39) |
N31D |
possibly damaging |
Het |
| Fam81a |
T |
A |
9: 70,017,628 (GRCm39) |
N106Y |
probably damaging |
Het |
| Frrs1 |
A |
G |
3: 116,694,639 (GRCm39) |
T487A |
possibly damaging |
Het |
| Ganc |
T |
C |
2: 120,264,307 (GRCm39) |
M420T |
probably damaging |
Het |
| Gimap7 |
A |
T |
6: 48,701,116 (GRCm39) |
E234V |
probably damaging |
Het |
| Gpbp1 |
T |
C |
13: 111,570,146 (GRCm39) |
N400S |
probably damaging |
Het |
| Hoxd10 |
T |
C |
2: 74,524,678 (GRCm39) |
I330T |
possibly damaging |
Het |
| Ik |
T |
A |
18: 36,890,341 (GRCm39) |
I539N |
probably damaging |
Het |
| Il17rb |
G |
A |
14: 29,722,320 (GRCm39) |
T237I |
probably damaging |
Het |
| Ing2 |
T |
A |
8: 48,122,293 (GRCm39) |
Q85L |
probably benign |
Het |
| Lrp4 |
C |
A |
2: 91,324,174 (GRCm39) |
N1208K |
probably benign |
Het |
| Lvrn |
T |
A |
18: 47,028,024 (GRCm39) |
S888R |
probably benign |
Het |
| Map2 |
T |
C |
1: 66,454,488 (GRCm39) |
V1126A |
probably damaging |
Het |
| Mapkapk5 |
A |
G |
5: 121,677,233 (GRCm39) |
|
probably null |
Het |
| Mis18bp1 |
T |
C |
12: 65,196,021 (GRCm39) |
D581G |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,599,320 (GRCm39) |
V3289A |
probably benign |
Het |
| Myom2 |
T |
A |
8: 15,149,356 (GRCm39) |
I609N |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,382,433 (GRCm39) |
M1343K |
probably damaging |
Het |
| Ndufaf1 |
T |
C |
2: 119,486,207 (GRCm39) |
I302V |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,183,733 (GRCm39) |
K978N |
probably damaging |
Het |
| Nol8 |
A |
G |
13: 49,820,831 (GRCm39) |
E878G |
probably damaging |
Het |
| Nrde2 |
A |
T |
12: 100,097,016 (GRCm39) |
I928N |
probably damaging |
Het |
| Nxf1 |
T |
A |
19: 8,741,910 (GRCm39) |
D145E |
probably benign |
Het |
| Obox3 |
T |
A |
7: 15,360,027 (GRCm39) |
H214L |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,964,572 (GRCm39) |
E3199G |
probably damaging |
Het |
| Ogfod3 |
T |
C |
11: 121,093,761 (GRCm39) |
E83G |
probably benign |
Het |
| Or11a4 |
T |
A |
17: 37,536,688 (GRCm39) |
V224E |
probably benign |
Het |
| Or2r3 |
T |
G |
6: 42,448,687 (GRCm39) |
M142L |
probably benign |
Het |
| Or6b2 |
A |
G |
1: 92,408,178 (GRCm39) |
L55P |
probably damaging |
Het |
| Or8s8 |
T |
C |
15: 98,354,425 (GRCm39) |
V78A |
probably benign |
Het |
| Pcsk4 |
G |
T |
10: 80,164,809 (GRCm39) |
H69N |
probably benign |
Het |
| Plcl2 |
C |
T |
17: 50,975,188 (GRCm39) |
|
probably null |
Het |
| Pmfbp1 |
T |
C |
8: 110,256,898 (GRCm39) |
I534T |
probably damaging |
Het |
| Prss23 |
A |
T |
7: 89,159,241 (GRCm39) |
I276N |
probably damaging |
Het |
| Ramac |
A |
G |
7: 81,417,387 (GRCm39) |
Y29C |
probably damaging |
Het |
| Rhd |
T |
A |
4: 134,621,696 (GRCm39) |
F403Y |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Scg5 |
A |
G |
2: 113,657,737 (GRCm39) |
V58A |
possibly damaging |
Het |
| Scn5a |
C |
T |
9: 119,315,102 (GRCm39) |
G1868R |
probably damaging |
Het |
| Secisbp2l |
A |
G |
2: 125,610,245 (GRCm39) |
S225P |
possibly damaging |
Het |
| Sema4f |
A |
T |
6: 82,894,613 (GRCm39) |
L486* |
probably null |
Het |
| Slc25a47 |
G |
A |
12: 108,822,069 (GRCm39) |
R286H |
probably damaging |
Het |
| Slc5a8 |
A |
C |
10: 88,740,916 (GRCm39) |
K277T |
probably damaging |
Het |
| Slc66a3 |
T |
C |
12: 17,047,644 (GRCm39) |
Y96C |
probably damaging |
Het |
| Sorcs1 |
T |
A |
19: 50,213,615 (GRCm39) |
E704V |
possibly damaging |
Het |
| Sptan1 |
T |
C |
2: 29,908,527 (GRCm39) |
S1768P |
probably damaging |
Het |
| Srd5a2 |
C |
T |
17: 74,328,378 (GRCm39) |
|
probably null |
Het |
| Sytl2 |
A |
T |
7: 90,007,432 (GRCm39) |
K65* |
probably null |
Het |
| Tas2r109 |
T |
G |
6: 132,957,844 (GRCm39) |
I29L |
probably benign |
Het |
| Tfap2a |
A |
T |
13: 40,876,717 (GRCm39) |
V234E |
possibly damaging |
Het |
| Tgfbr3 |
G |
A |
5: 107,325,679 (GRCm39) |
L128F |
probably benign |
Het |
| Trappc12 |
A |
T |
12: 28,797,082 (GRCm39) |
L150Q |
probably damaging |
Het |
| Trim43b |
T |
A |
9: 88,967,452 (GRCm39) |
I395L |
probably benign |
Het |
| U2surp |
C |
T |
9: 95,373,474 (GRCm39) |
E232K |
probably benign |
Het |
| Vax1 |
T |
C |
19: 59,154,656 (GRCm39) |
N327S |
probably benign |
Het |
| Vmn1r14 |
T |
C |
6: 57,210,587 (GRCm39) |
V11A |
probably benign |
Het |
| Vmn1r60 |
A |
G |
7: 5,547,782 (GRCm39) |
V106A |
probably damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,498,667 (GRCm39) |
S415G |
probably benign |
Het |
| Vmn2r3 |
C |
T |
3: 64,182,517 (GRCm39) |
G394D |
probably damaging |
Het |
| Ybx2 |
A |
G |
11: 69,831,179 (GRCm39) |
E63G |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,308,410 (GRCm39) |
N545K |
probably benign |
Het |
| Zp1 |
T |
C |
19: 10,892,217 (GRCm39) |
T56A |
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 |
|
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'- GTCCTTATATAATGCAGTGCCATCTAC -3'
(R):5'- TGACTTGTCTCGAAGCTGCTAAG -3'
Sequencing Primer
(F):5'- GAAGAGATGAATGGAATGTGTGTC -3'
(R):5'- TGCTAAGCTCACCGTGGG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation