Incidental Mutation 'R7561:Gucy2g'
ID |
585165 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gucy2g
|
Ensembl Gene |
ENSMUSG00000055523 |
Gene Name |
guanylate cyclase 2g |
Synonyms |
2410077I05Rik, GC-G |
MMRRC Submission |
045654-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7561 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
55186531-55229668 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 55194772 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 882
(V882L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068253
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069183]
|
AlphaFold |
Q6TL19 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069183
AA Change: V882L
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000068253 Gene: ENSMUSG00000055523 AA Change: V882L
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: 99.7%
- 20x: 99.1%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
C |
A |
13: 77,341,314 (GRCm39) |
N314K |
probably benign |
Het |
A430005L14Rik |
T |
A |
4: 154,045,097 (GRCm39) |
I80N |
probably benign |
Het |
Abca2 |
A |
G |
2: 25,336,707 (GRCm39) |
H2271R |
probably damaging |
Het |
Acad8 |
T |
C |
9: 26,890,538 (GRCm39) |
I257V |
probably benign |
Het |
Acot12 |
A |
T |
13: 91,918,243 (GRCm39) |
T179S |
probably damaging |
Het |
Adcy10 |
A |
G |
1: 165,386,741 (GRCm39) |
R1155G |
possibly damaging |
Het |
Adcy9 |
C |
T |
16: 4,236,028 (GRCm39) |
C461Y |
probably damaging |
Het |
Adgrf1 |
G |
A |
17: 43,622,000 (GRCm39) |
V746I |
possibly damaging |
Het |
Agbl1 |
C |
A |
7: 76,348,509 (GRCm39) |
Q869K |
unknown |
Het |
AI837181 |
T |
G |
19: 5,476,491 (GRCm39) |
V218G |
probably damaging |
Het |
Alg9 |
T |
C |
9: 50,754,074 (GRCm39) |
S585P |
possibly damaging |
Het |
Arhgef38 |
T |
C |
3: 132,866,489 (GRCm39) |
Q216R |
|
Het |
Asb4 |
A |
T |
6: 5,430,968 (GRCm39) |
H401L |
possibly damaging |
Het |
Atg7 |
G |
T |
6: 114,650,002 (GRCm39) |
A60S |
possibly damaging |
Het |
Atp10a |
T |
A |
7: 58,476,881 (GRCm39) |
C1199S |
probably damaging |
Het |
Blm |
G |
A |
7: 80,152,276 (GRCm39) |
A557V |
probably damaging |
Het |
Cbln1 |
A |
T |
8: 88,198,624 (GRCm39) |
M82K |
probably benign |
Het |
Ccdc183 |
T |
G |
2: 25,501,529 (GRCm39) |
I293L |
probably benign |
Het |
Col6a3 |
A |
G |
1: 90,703,463 (GRCm39) |
S3035P |
unknown |
Het |
Cux2 |
A |
T |
5: 122,017,931 (GRCm39) |
S206T |
probably benign |
Het |
Cyfip2 |
T |
C |
11: 46,161,425 (GRCm39) |
D355G |
probably benign |
Het |
Dhrs2 |
A |
G |
14: 55,474,698 (GRCm39) |
H111R |
probably benign |
Het |
Eif3b |
T |
G |
5: 140,428,109 (GRCm39) |
D781E |
probably benign |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Fermt1 |
A |
T |
2: 132,758,008 (GRCm39) |
I469N |
probably benign |
Het |
Fgf20 |
G |
T |
8: 40,732,975 (GRCm39) |
N154K |
possibly damaging |
Het |
Fndc10 |
T |
A |
4: 155,779,328 (GRCm39) |
V124E |
probably damaging |
Het |
Fra10ac1 |
T |
C |
19: 38,210,324 (GRCm39) |
D13G |
probably damaging |
Het |
Gpatch1 |
A |
G |
7: 35,008,800 (GRCm39) |
S74P |
probably damaging |
Het |
Gramd1b |
G |
A |
9: 40,312,911 (GRCm39) |
T19I |
unknown |
Het |
Grm8 |
T |
C |
6: 27,429,524 (GRCm39) |
T457A |
probably benign |
Het |
Hectd4 |
G |
A |
5: 121,429,288 (GRCm39) |
R811H |
possibly damaging |
Het |
Hk1 |
C |
T |
10: 62,116,807 (GRCm39) |
|
probably null |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Il10ra |
T |
A |
9: 45,167,117 (GRCm39) |
D480V |
probably benign |
Het |
Il18rap |
A |
T |
1: 40,563,537 (GRCm39) |
H22L |
probably benign |
Het |
Inpp5a |
T |
A |
7: 139,147,338 (GRCm39) |
I321N |
probably damaging |
Het |
Insyn1 |
A |
G |
9: 58,406,687 (GRCm39) |
D199G |
probably damaging |
Het |
Kat2b |
T |
G |
17: 53,948,286 (GRCm39) |
L352R |
probably benign |
Het |
Katnip |
C |
T |
7: 125,441,894 (GRCm39) |
S627L |
probably benign |
Het |
Kcna1 |
A |
T |
6: 126,619,108 (GRCm39) |
V404E |
probably damaging |
Het |
Mcm3ap |
T |
A |
10: 76,328,712 (GRCm39) |
V1110E |
possibly damaging |
Het |
Moxd2 |
C |
T |
6: 40,864,337 (GRCm39) |
R31H |
probably damaging |
Het |
Mpdz |
A |
T |
4: 81,225,388 (GRCm39) |
N1368K |
probably damaging |
Het |
Mpzl3 |
G |
T |
9: 44,966,610 (GRCm39) |
V24F |
probably benign |
Het |
Mybph |
G |
A |
1: 134,121,465 (GRCm39) |
|
probably null |
Het |
Ncam1 |
G |
T |
9: 49,476,242 (GRCm39) |
D282E |
probably damaging |
Het |
Ntrk2 |
G |
A |
13: 59,009,202 (GRCm39) |
C331Y |
probably benign |
Het |
Nwd2 |
T |
A |
5: 63,964,434 (GRCm39) |
C1339* |
probably null |
Het |
Or3a1d |
T |
C |
11: 74,238,436 (GRCm39) |
|
probably benign |
Het |
Or5b98 |
T |
C |
19: 12,931,403 (GRCm39) |
V150A |
probably benign |
Het |
Or8k33 |
T |
C |
2: 86,383,661 (GRCm39) |
D269G |
probably benign |
Het |
Osbpl6 |
C |
A |
2: 76,416,498 (GRCm39) |
T672N |
probably damaging |
Het |
Pds5b |
T |
C |
5: 150,662,783 (GRCm39) |
|
probably null |
Het |
Perm1 |
A |
G |
4: 156,303,217 (GRCm39) |
N587S |
probably benign |
Het |
Pex7 |
A |
T |
10: 19,770,012 (GRCm39) |
C165* |
probably null |
Het |
Pik3r4 |
A |
G |
9: 105,564,446 (GRCm39) |
T1347A |
possibly damaging |
Het |
Pitpnm3 |
T |
C |
11: 71,942,008 (GRCm39) |
D933G |
probably benign |
Het |
Rnf213 |
T |
A |
11: 119,332,545 (GRCm39) |
F2586I |
|
Het |
Scn10a |
A |
G |
9: 119,523,390 (GRCm39) |
M1T |
probably null |
Het |
Sdhaf3 |
T |
A |
6: 6,956,079 (GRCm39) |
L18Q |
not run |
Het |
Septin7 |
A |
G |
9: 25,209,151 (GRCm39) |
E256G |
possibly damaging |
Het |
Slc35b2 |
A |
G |
17: 45,877,727 (GRCm39) |
T236A |
probably damaging |
Het |
Slc4a4 |
G |
A |
5: 89,347,556 (GRCm39) |
G766R |
probably damaging |
Het |
Slco6c1 |
G |
T |
1: 97,000,691 (GRCm39) |
S537Y |
probably damaging |
Het |
Srp68 |
T |
C |
11: 116,139,593 (GRCm39) |
E452G |
probably damaging |
Het |
Taf2 |
A |
T |
15: 54,919,229 (GRCm39) |
M382K |
probably benign |
Het |
Tas2r131 |
A |
G |
6: 132,933,921 (GRCm39) |
L296P |
probably benign |
Het |
Tlr9 |
A |
G |
9: 106,103,148 (GRCm39) |
E813G |
probably benign |
Het |
Trmt44 |
T |
C |
5: 35,715,336 (GRCm39) |
E659G |
possibly damaging |
Het |
Ttc21b |
G |
A |
2: 66,047,548 (GRCm39) |
A849V |
possibly damaging |
Het |
Unc45a |
G |
T |
7: 79,981,334 (GRCm39) |
S489R |
possibly damaging |
Het |
Xrn1 |
T |
C |
9: 95,881,511 (GRCm39) |
V795A |
probably benign |
Het |
Zbtb22 |
A |
T |
17: 34,136,952 (GRCm39) |
T366S |
probably benign |
Het |
Zcchc10 |
T |
A |
11: 53,215,545 (GRCm39) |
H6Q |
probably benign |
Het |
Zfp60 |
A |
G |
7: 27,447,955 (GRCm39) |
K208E |
probably damaging |
Het |
Zfp780b |
A |
T |
7: 27,664,037 (GRCm39) |
C173S |
possibly damaging |
Het |
Zfp786 |
C |
A |
6: 47,796,667 (GRCm39) |
R757L |
probably benign |
Het |
Zfp936 |
G |
A |
7: 42,839,339 (GRCm39) |
A269T |
probably damaging |
Het |
Zfp976 |
T |
C |
7: 42,265,701 (GRCm39) |
Y29C |
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 |
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 |
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'- GGCTCTGTATCGTGTGGTCAAAC -3'
(R):5'- CCCTTTCCTGCGGATTACAG -3'
Sequencing Primer
(F):5'- TCGTGTGGTCAAACAAGCTGTAC -3'
(R):5'- TCCTGCGGATTACAGCCACC -3'
|
Posted On |
2019-10-17 |