Incidental Mutation 'R5497:Gucy2g'
ID |
432450 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gucy2g
|
Ensembl Gene |
ENSMUSG00000055523 |
Gene Name |
guanylate cyclase 2g |
Synonyms |
2410077I05Rik, GC-G |
MMRRC Submission |
043058-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5497 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
55186531-55229668 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 55187133 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 1096
(V1096I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068253
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025936]
[ENSMUST00000069183]
[ENSMUST00000120936]
|
AlphaFold |
Q6TL19 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025936
|
SMART Domains |
Protein: ENSMUSP00000025936 Gene: ENSMUSG00000024979
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
ZP
|
31 |
283 |
3.47e-50 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000069183
AA Change: V1096I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000068253 Gene: ENSMUSG00000055523 AA Change: V1096I
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120936
|
SMART Domains |
Protein: ENSMUSP00000113805 Gene: ENSMUSG00000024979
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
ZP
|
31 |
293 |
1.9e-47 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124545
|
SMART Domains |
Protein: ENSMUSP00000117645 Gene: ENSMUSG00000024979
Domain | Start | End | E-Value | Type |
Pfam:Zona_pellucida
|
3 |
116 |
5.9e-27 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148123
|
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.2%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
A |
T |
11: 72,056,360 (GRCm39) |
M800K |
probably benign |
Het |
Abca9 |
G |
A |
11: 110,021,518 (GRCm39) |
A1064V |
probably damaging |
Het |
Acsm2 |
A |
T |
7: 119,172,543 (GRCm39) |
T129S |
possibly damaging |
Het |
Adamts9 |
A |
T |
6: 92,831,346 (GRCm39) |
C755S |
probably damaging |
Het |
Adarb1 |
T |
C |
10: 77,161,723 (GRCm39) |
D2G |
probably damaging |
Het |
Apaf1 |
G |
A |
10: 90,835,518 (GRCm39) |
A1098V |
probably damaging |
Het |
Asap3 |
A |
G |
4: 135,966,533 (GRCm39) |
H537R |
probably benign |
Het |
Atp2a2 |
C |
T |
5: 122,596,232 (GRCm39) |
C887Y |
probably damaging |
Het |
Atp6v0a1 |
G |
A |
11: 100,920,011 (GRCm39) |
V215M |
probably damaging |
Het |
Cacng8 |
A |
G |
7: 3,464,069 (GRCm39) |
E407G |
probably benign |
Het |
Capn8 |
G |
A |
1: 182,447,745 (GRCm39) |
E535K |
probably benign |
Het |
Cebpe |
A |
G |
14: 54,948,052 (GRCm39) |
F264L |
probably benign |
Het |
Ces1c |
A |
C |
8: 93,857,343 (GRCm39) |
N79K |
possibly damaging |
Het |
Cfap58 |
T |
G |
19: 48,017,548 (GRCm39) |
S803A |
probably benign |
Het |
Cpa1 |
A |
G |
6: 30,640,729 (GRCm39) |
T124A |
probably benign |
Het |
Csmd1 |
A |
G |
8: 16,135,195 (GRCm39) |
S1654P |
probably benign |
Het |
Dmbt1 |
A |
T |
7: 130,665,133 (GRCm39) |
|
probably benign |
Het |
Eif3e |
T |
C |
15: 43,134,366 (GRCm39) |
Y127C |
probably damaging |
Het |
Fhip2a |
G |
C |
19: 57,369,583 (GRCm39) |
|
probably null |
Het |
Galnt5 |
T |
C |
2: 57,915,340 (GRCm39) |
M632T |
probably damaging |
Het |
Gja8 |
A |
G |
3: 96,827,513 (GRCm39) |
S50P |
probably damaging |
Het |
Gon7 |
A |
G |
12: 102,720,363 (GRCm39) |
S90P |
probably benign |
Het |
Gxylt2 |
A |
G |
6: 100,764,290 (GRCm39) |
N325S |
probably benign |
Het |
H2-Ob |
A |
G |
17: 34,460,144 (GRCm39) |
D85G |
probably benign |
Het |
Heatr1 |
T |
A |
13: 12,435,945 (GRCm39) |
I1161N |
possibly damaging |
Het |
Hjurp |
G |
A |
1: 88,194,042 (GRCm39) |
H289Y |
possibly damaging |
Het |
Hsd3b7 |
A |
G |
7: 127,401,060 (GRCm39) |
Y99C |
probably damaging |
Het |
Ifnar1 |
T |
G |
16: 91,302,252 (GRCm39) |
Y21D |
probably benign |
Het |
Isoc2b |
C |
T |
7: 4,853,782 (GRCm39) |
V131I |
probably benign |
Het |
Klc3 |
T |
C |
7: 19,128,595 (GRCm39) |
I500V |
probably benign |
Het |
Lrp5 |
C |
A |
19: 3,652,319 (GRCm39) |
G1184W |
probably damaging |
Het |
Map2k4 |
A |
G |
11: 65,626,031 (GRCm39) |
I136T |
probably damaging |
Het |
Map3k7 |
T |
C |
4: 31,991,719 (GRCm39) |
F319S |
possibly damaging |
Het |
Muc5ac |
A |
G |
7: 141,361,380 (GRCm39) |
T1564A |
probably damaging |
Het |
Nptx2 |
A |
T |
5: 144,492,999 (GRCm39) |
D362V |
probably damaging |
Het |
Nutf2-ps1 |
A |
T |
19: 53,577,265 (GRCm39) |
I52N |
probably damaging |
Het |
Or2aj4 |
C |
T |
16: 19,385,080 (GRCm39) |
M184I |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,447,628 (GRCm39) |
Y2255F |
possibly damaging |
Het |
Primpol |
A |
T |
8: 47,045,657 (GRCm39) |
Y308* |
probably null |
Het |
Retreg2 |
G |
A |
1: 75,121,633 (GRCm39) |
V219I |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rph3a |
T |
A |
5: 121,080,253 (GRCm39) |
E675V |
probably benign |
Het |
Ryr2 |
A |
T |
13: 11,720,587 (GRCm39) |
M2687K |
probably null |
Het |
Shank2 |
A |
G |
7: 143,963,271 (GRCm39) |
D293G |
probably damaging |
Het |
Snx6 |
A |
G |
12: 54,803,846 (GRCm39) |
V154A |
probably damaging |
Het |
Srm |
G |
T |
4: 148,678,566 (GRCm39) |
Q264H |
probably benign |
Het |
Styk1 |
A |
T |
6: 131,281,670 (GRCm39) |
I316N |
probably damaging |
Het |
Syne2 |
A |
G |
12: 75,927,163 (GRCm39) |
N103S |
probably benign |
Het |
Tas2r105 |
G |
A |
6: 131,663,805 (GRCm39) |
|
probably null |
Het |
Tbcel |
T |
A |
9: 42,363,041 (GRCm39) |
M1L |
possibly damaging |
Het |
Tlr3 |
C |
T |
8: 45,851,851 (GRCm39) |
D349N |
possibly damaging |
Het |
Tm9sf3 |
T |
C |
19: 41,203,555 (GRCm39) |
S574G |
probably benign |
Het |
Usp31 |
A |
T |
7: 121,250,824 (GRCm39) |
V783E |
probably damaging |
Het |
Vmn2r61 |
T |
A |
7: 41,924,906 (GRCm39) |
Y487N |
possibly damaging |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Zfp980 |
A |
G |
4: 145,428,017 (GRCm39) |
K249E |
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 |
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'- CATCTAGTGGCGGGTCATTG -3'
(R):5'- GAAGGTCCATGAACTCACCAG -3'
Sequencing Primer
(F):5'- CGGGTCATTGATTCATTGACACAGAG -3'
(R):5'- GGTCCATGAACTCACCAGGATTTC -3'
|
Posted On |
2016-10-05 |