Incidental Mutation 'R2071:Gucy2g'
| ID |
227190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2g
|
| Ensembl Gene |
ENSMUSG00000055523 |
| Gene Name |
guanylate cyclase 2g |
| Synonyms |
2410077I05Rik, GC-G |
| MMRRC Submission |
040076-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2071 (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 55210772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 661
(Y661F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069183]
|
| AlphaFold |
Q6TL19 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069183
AA Change: Y661F
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: Y661F
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
T |
A |
1: 57,422,474 (GRCm39) |
H283Q |
probably damaging |
Het |
| 2810021J22Rik |
A |
G |
11: 58,767,595 (GRCm39) |
K31E |
probably damaging |
Het |
| Abcc10 |
G |
C |
17: 46,614,491 (GRCm39) |
N1477K |
probably benign |
Het |
| Adam33 |
T |
C |
2: 130,897,266 (GRCm39) |
T310A |
probably benign |
Het |
| Afm |
A |
G |
5: 90,671,594 (GRCm39) |
D92G |
probably benign |
Het |
| Arg1 |
C |
T |
10: 24,798,561 (GRCm39) |
A30T |
probably benign |
Het |
| Ash1l |
C |
G |
3: 88,873,510 (GRCm39) |
P98A |
probably damaging |
Het |
| Atad5 |
A |
T |
11: 79,988,878 (GRCm39) |
|
probably null |
Het |
| Atg2a |
T |
C |
19: 6,307,488 (GRCm39) |
V1474A |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,603,466 (GRCm39) |
K24E |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| B3gnt4 |
A |
T |
5: 123,649,433 (GRCm39) |
H266L |
probably benign |
Het |
| Bora |
T |
C |
14: 99,299,714 (GRCm39) |
S229P |
probably damaging |
Het |
| Ccn1 |
C |
T |
3: 145,354,428 (GRCm39) |
W161* |
probably null |
Het |
| Cdsn |
A |
T |
17: 35,865,591 (GRCm39) |
D40V |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,252,860 (GRCm39) |
R323G |
probably damaging |
Het |
| Chek2 |
T |
C |
5: 110,989,112 (GRCm39) |
|
probably benign |
Het |
| Chga |
A |
T |
12: 102,529,122 (GRCm39) |
K366N |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,309,572 (GRCm39) |
K515E |
probably null |
Het |
| Cmtr1 |
A |
G |
17: 29,913,757 (GRCm39) |
|
probably null |
Het |
| Dsg3 |
T |
C |
18: 20,669,882 (GRCm39) |
L632S |
probably damaging |
Het |
| Eif1ad8 |
T |
A |
12: 87,563,822 (GRCm39) |
F52L |
probably benign |
Het |
| Fzd3 |
A |
G |
14: 65,473,012 (GRCm39) |
F252S |
probably damaging |
Het |
| Gas2l2 |
T |
C |
11: 83,312,775 (GRCm39) |
K846E |
probably benign |
Het |
| Gpatch11 |
T |
C |
17: 79,148,514 (GRCm39) |
|
probably null |
Het |
| Hhip |
A |
G |
8: 80,783,931 (GRCm39) |
F72L |
probably benign |
Het |
| Kat14 |
T |
C |
2: 144,231,136 (GRCm39) |
L181P |
probably damaging |
Het |
| Kifc3 |
A |
T |
8: 95,834,981 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
G |
T |
5: 123,932,340 (GRCm39) |
|
probably null |
Het |
| Man2b1 |
G |
T |
8: 85,812,013 (GRCm39) |
V156L |
possibly damaging |
Het |
| Mast1 |
T |
C |
8: 85,647,823 (GRCm39) |
D517G |
probably damaging |
Het |
| Mc1r |
T |
C |
8: 124,135,108 (GRCm39) |
L287P |
possibly damaging |
Het |
| Mctp1 |
A |
T |
13: 76,907,843 (GRCm39) |
E238V |
probably damaging |
Het |
| Mmp12 |
T |
A |
9: 7,349,725 (GRCm39) |
I52N |
probably damaging |
Het |
| Morc1 |
C |
T |
16: 48,412,974 (GRCm39) |
T705I |
probably benign |
Het |
| Mrpl24 |
T |
C |
3: 87,830,374 (GRCm39) |
|
probably null |
Het |
| Nap1l1 |
C |
T |
10: 111,328,761 (GRCm39) |
T230I |
possibly damaging |
Het |
| Niban1 |
T |
C |
1: 151,512,181 (GRCm39) |
F28L |
probably damaging |
Het |
| Nmral1 |
T |
A |
16: 4,534,211 (GRCm39) |
I77F |
probably damaging |
Het |
| Nudt13 |
T |
A |
14: 20,354,045 (GRCm39) |
D36E |
probably damaging |
Het |
| Oxsm |
A |
G |
14: 16,241,983 (GRCm38) |
L262P |
probably benign |
Het |
| Pde10a |
A |
T |
17: 9,180,827 (GRCm39) |
I754F |
probably benign |
Het |
| Pdzph1 |
T |
C |
17: 59,281,092 (GRCm39) |
R397G |
probably benign |
Het |
| Pgap6 |
T |
C |
17: 26,341,017 (GRCm39) |
Y176H |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,953,058 (GRCm39) |
V567E |
possibly damaging |
Het |
| Pou3f2 |
A |
G |
4: 22,488,076 (GRCm39) |
V19A |
probably benign |
Het |
| Pramel34 |
T |
G |
5: 93,784,375 (GRCm39) |
Q363P |
probably damaging |
Het |
| Pth1r |
A |
G |
9: 110,556,081 (GRCm39) |
I264T |
probably benign |
Het |
| Ptprn |
C |
A |
1: 75,231,788 (GRCm39) |
G504C |
probably damaging |
Het |
| Rbak |
A |
G |
5: 143,162,339 (GRCm39) |
L8P |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,700,349 (GRCm39) |
D1615E |
probably benign |
Het |
| Rhob |
A |
G |
12: 8,549,232 (GRCm39) |
M134T |
probably benign |
Het |
| Slc10a4 |
T |
C |
5: 73,164,840 (GRCm39) |
L144P |
probably damaging |
Het |
| Slc45a3 |
T |
C |
1: 131,905,370 (GRCm39) |
L131P |
probably damaging |
Het |
| Slf1 |
T |
A |
13: 77,252,743 (GRCm39) |
E259D |
probably benign |
Het |
| Slitrk5 |
A |
G |
14: 111,917,621 (GRCm39) |
Y415C |
probably damaging |
Het |
| Sohlh2 |
A |
G |
3: 55,115,043 (GRCm39) |
I343V |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,890,753 (GRCm39) |
D1922G |
possibly damaging |
Het |
| Spats2l |
T |
A |
1: 57,979,623 (GRCm39) |
I243N |
possibly damaging |
Het |
| Specc1 |
A |
C |
11: 62,008,701 (GRCm39) |
K152N |
probably damaging |
Het |
| Sv2a |
G |
A |
3: 96,101,191 (GRCm39) |
A730T |
possibly damaging |
Het |
| Tars2 |
C |
A |
3: 95,654,950 (GRCm39) |
G113C |
probably damaging |
Het |
| Tcstv2b |
A |
T |
13: 120,373,836 (GRCm39) |
D151E |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,091,739 (GRCm39) |
K601E |
probably benign |
Het |
| Trp53 |
A |
G |
11: 69,480,458 (GRCm39) |
D278G |
probably damaging |
Het |
| Ttc39d |
G |
A |
17: 80,524,030 (GRCm39) |
G230R |
probably damaging |
Het |
| Tubb2b |
T |
A |
13: 34,312,244 (GRCm39) |
Y183F |
probably damaging |
Het |
| Ubxn7 |
T |
A |
16: 32,191,287 (GRCm39) |
C160S |
possibly damaging |
Het |
| Vcp |
A |
G |
4: 42,995,894 (GRCm39) |
|
probably null |
Het |
| Vmn1r201 |
T |
C |
13: 22,658,995 (GRCm39) |
F70L |
probably benign |
Het |
| Vmn1r49 |
C |
T |
6: 90,049,184 (GRCm39) |
V273I |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,014,056 (GRCm39) |
I283L |
probably benign |
Het |
| Xpr1 |
T |
C |
1: 155,166,026 (GRCm39) |
T574A |
probably benign |
Het |
| Zfp408 |
A |
G |
2: 91,476,363 (GRCm39) |
F364L |
probably damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,334,220 (GRCm39) |
L266P |
possibly 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 |
|
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 |
|
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'- CTGTGCTTTCCTAAGGGGAC -3'
(R):5'- TACATGTAGGAAGCTCACTGTG -3'
Sequencing Primer
(F):5'- GAGTAAAGCACTTTTCCTGCTCAAGG -3'
(R):5'- GTGTCAGCCCACTGTGTGTC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation