Incidental Mutation 'R1693:Gucy2g'
ID |
191973 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gucy2g
|
Ensembl Gene |
ENSMUSG00000055523 |
Gene Name |
guanylate cyclase 2g |
Synonyms |
2410077I05Rik, GC-G |
MMRRC Submission |
039726-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1693 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
55186531-55229668 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55211358 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 624
(E624G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068253
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069183]
|
AlphaFold |
Q6TL19 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069183
AA Change: E624G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000068253 Gene: ENSMUSG00000055523 AA Change: E624G
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.2%
- 20x: 92.2%
|
Validation Efficiency |
96% (69/72) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff4 |
A |
G |
11: 53,287,380 (GRCm39) |
D378G |
probably damaging |
Het |
Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,124,701 (GRCm39) |
Y981H |
probably damaging |
Het |
Arfgap2 |
T |
A |
2: 91,100,420 (GRCm39) |
|
probably null |
Het |
Ccnf |
TGGGGG |
TGGGGGGG |
17: 24,445,514 (GRCm39) |
|
probably null |
Het |
Cd53 |
T |
C |
3: 106,676,205 (GRCm39) |
N54S |
possibly damaging |
Het |
Cep152 |
C |
A |
2: 125,408,174 (GRCm39) |
A1390S |
probably benign |
Het |
Cfap91 |
A |
G |
16: 38,162,085 (GRCm39) |
Y19H |
probably benign |
Het |
Chd7 |
T |
C |
4: 8,864,307 (GRCm39) |
|
probably null |
Het |
Chrm5 |
A |
G |
2: 112,309,625 (GRCm39) |
L497P |
probably damaging |
Het |
Colec12 |
G |
A |
18: 9,866,765 (GRCm39) |
V659M |
unknown |
Het |
Creb3 |
C |
A |
4: 43,566,755 (GRCm39) |
H390Q |
probably damaging |
Het |
D1Pas1 |
T |
C |
1: 186,700,226 (GRCm39) |
F52L |
probably benign |
Het |
D5Ertd579e |
A |
G |
5: 36,771,441 (GRCm39) |
F985L |
probably damaging |
Het |
Dock4 |
C |
T |
12: 40,884,721 (GRCm39) |
P1742S |
probably benign |
Het |
Ehmt2 |
G |
T |
17: 35,125,386 (GRCm39) |
V534L |
possibly damaging |
Het |
Epcam |
A |
G |
17: 87,947,324 (GRCm39) |
D26G |
probably benign |
Het |
F2 |
C |
T |
2: 91,459,524 (GRCm39) |
V420M |
probably damaging |
Het |
Fbxw16 |
A |
T |
9: 109,265,327 (GRCm39) |
D401E |
possibly damaging |
Het |
Fiz1 |
T |
C |
7: 5,011,727 (GRCm39) |
T264A |
probably benign |
Het |
Fsbp |
T |
C |
4: 11,583,745 (GRCm39) |
V148A |
probably benign |
Het |
Furin |
A |
G |
7: 80,042,230 (GRCm39) |
L455P |
probably damaging |
Het |
Ggt7 |
G |
A |
2: 155,348,395 (GRCm39) |
R10W |
probably damaging |
Het |
Igf2r |
A |
G |
17: 12,923,203 (GRCm39) |
F1202S |
probably damaging |
Het |
Ikzf1 |
C |
T |
11: 11,657,838 (GRCm39) |
P32S |
probably damaging |
Het |
Itgal |
G |
A |
7: 126,904,453 (GRCm39) |
V309M |
probably damaging |
Het |
Kcnk5 |
C |
A |
14: 20,191,964 (GRCm39) |
R399L |
probably damaging |
Het |
Kdm5b |
C |
T |
1: 134,525,314 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,340,762 (GRCm39) |
V1038M |
probably damaging |
Het |
Lrp4 |
T |
C |
2: 91,322,698 (GRCm39) |
Y1096H |
probably damaging |
Het |
Lrrc7 |
C |
G |
3: 157,790,170 (GRCm39) |
S1465T |
possibly damaging |
Het |
Map3k5 |
A |
G |
10: 19,979,988 (GRCm39) |
N832S |
probably damaging |
Het |
Mrtfb |
C |
A |
16: 13,216,334 (GRCm39) |
L349I |
possibly damaging |
Het |
Mrtfb |
T |
A |
16: 13,216,335 (GRCm39) |
L349Q |
probably damaging |
Het |
Myh13 |
A |
C |
11: 67,232,310 (GRCm39) |
M495L |
possibly damaging |
Het |
Myh9 |
A |
C |
15: 77,697,097 (GRCm39) |
Y106D |
probably damaging |
Het |
Naa16 |
A |
T |
14: 79,588,896 (GRCm39) |
W452R |
probably damaging |
Het |
Nsd1 |
T |
C |
13: 55,395,074 (GRCm39) |
S892P |
probably benign |
Het |
Nup205 |
A |
G |
6: 35,187,906 (GRCm39) |
I939V |
probably benign |
Het |
Oit3 |
A |
G |
10: 59,261,239 (GRCm39) |
F476S |
probably damaging |
Het |
Or7e174 |
T |
C |
9: 20,012,883 (GRCm39) |
V276A |
probably benign |
Het |
Panx3 |
A |
T |
9: 37,580,203 (GRCm39) |
M50K |
possibly damaging |
Het |
Panx3 |
A |
C |
9: 37,580,242 (GRCm39) |
M37R |
possibly damaging |
Het |
Pip4p2 |
T |
A |
4: 14,886,631 (GRCm39) |
D68E |
probably benign |
Het |
Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
Prkaca |
T |
A |
8: 84,707,827 (GRCm39) |
D37E |
probably benign |
Het |
Prkcq |
T |
A |
2: 11,259,010 (GRCm39) |
I310N |
probably damaging |
Het |
Prrc2c |
A |
G |
1: 162,546,282 (GRCm39) |
Y235H |
probably damaging |
Het |
Ptprj |
A |
T |
2: 90,280,141 (GRCm39) |
C1052* |
probably null |
Het |
Rad52 |
C |
A |
6: 119,892,996 (GRCm39) |
P180Q |
probably damaging |
Het |
Sdhaf3 |
T |
A |
6: 7,038,964 (GRCm39) |
D95E |
probably benign |
Het |
Slitrk6 |
A |
G |
14: 110,988,360 (GRCm39) |
I449T |
probably damaging |
Het |
Spata7 |
T |
A |
12: 98,630,516 (GRCm39) |
M358K |
possibly damaging |
Het |
Tada2a |
C |
T |
11: 83,972,895 (GRCm39) |
G178D |
probably damaging |
Het |
Tap2 |
G |
C |
17: 34,428,186 (GRCm39) |
V287L |
probably benign |
Het |
Tmem200a |
A |
G |
10: 25,869,877 (GRCm39) |
F131L |
possibly damaging |
Het |
Traip |
A |
T |
9: 107,847,229 (GRCm39) |
K356M |
probably damaging |
Het |
Tspan8 |
T |
A |
10: 115,679,949 (GRCm39) |
|
probably benign |
Het |
U2surp |
A |
T |
9: 95,393,913 (GRCm39) |
M1K |
probably null |
Het |
Vars1 |
A |
T |
17: 35,217,172 (GRCm39) |
D427E |
probably benign |
Het |
Vmn1r113 |
G |
A |
7: 20,521,532 (GRCm39) |
C108Y |
probably damaging |
Het |
Vmn2r63 |
T |
A |
7: 42,577,743 (GRCm39) |
Q265L |
probably benign |
Het |
Vps33b |
T |
A |
7: 79,937,641 (GRCm39) |
V463E |
probably damaging |
Het |
Vrtn |
T |
C |
12: 84,695,429 (GRCm39) |
S60P |
probably benign |
Het |
Zfp53 |
T |
A |
17: 21,729,884 (GRCm39) |
V639D |
possibly damaging |
Het |
Zfp964 |
T |
A |
8: 70,116,800 (GRCm39) |
S466T |
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 |
|
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 |
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'- CAGGAAGCAGCCCAAGGTAATTCAG -3'
(R):5'- ACAGTGATGCAGGGTCACACAC -3'
Sequencing Primer
(F):5'- GCCCAAGGTAATTCAGGTCTC -3'
(R):5'- ccttccaggcatccgttc -3'
|
Posted On |
2014-05-14 |