Incidental Mutation 'R4671:Gucy2g'
ID |
348478 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gucy2g
|
Ensembl Gene |
ENSMUSG00000055523 |
Gene Name |
guanylate cyclase 2g |
Synonyms |
2410077I05Rik, GC-G |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4671 (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 55226500 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 139
(I139F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068253
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069183]
|
AlphaFold |
Q6TL19 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069183
AA Change: I139F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000068253 Gene: ENSMUSG00000055523 AA Change: I139F
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: 97.3%
- 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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
T |
C |
19: 43,789,157 (GRCm39) |
S271P |
probably benign |
Het |
Acod1 |
T |
G |
14: 103,284,508 (GRCm39) |
M2R |
probably benign |
Het |
Adamts20 |
T |
C |
15: 94,301,206 (GRCm39) |
E106G |
possibly damaging |
Het |
Adgra3 |
G |
A |
5: 50,136,710 (GRCm39) |
T661M |
probably damaging |
Het |
Akap13 |
T |
A |
7: 75,229,312 (GRCm39) |
C161* |
probably null |
Het |
Akr1c12 |
A |
C |
13: 4,323,816 (GRCm39) |
S162A |
possibly damaging |
Het |
Anks1 |
C |
A |
17: 28,270,552 (GRCm39) |
H805N |
probably benign |
Het |
Arhgap22 |
T |
C |
14: 33,084,500 (GRCm39) |
C260R |
probably damaging |
Het |
Banf1 |
T |
C |
19: 5,415,872 (GRCm39) |
R33G |
probably benign |
Het |
Bcas1 |
T |
C |
2: 170,226,245 (GRCm39) |
K310R |
probably damaging |
Het |
Cacna1c |
G |
T |
6: 118,629,019 (GRCm39) |
H1240N |
probably damaging |
Het |
Cartpt |
C |
T |
13: 100,036,588 (GRCm39) |
|
probably null |
Het |
Ccdc127 |
T |
A |
13: 74,505,164 (GRCm39) |
Y237* |
probably null |
Het |
Ccnb1ip1 |
A |
T |
14: 51,029,734 (GRCm39) |
Y109* |
probably null |
Het |
Cenpj |
A |
T |
14: 56,790,840 (GRCm39) |
V403E |
possibly damaging |
Het |
Cps1 |
A |
G |
1: 67,235,719 (GRCm39) |
Y951C |
probably damaging |
Het |
Dcakd |
T |
C |
11: 102,890,634 (GRCm39) |
E51G |
possibly damaging |
Het |
Dennd4a |
A |
T |
9: 64,801,689 (GRCm39) |
N944I |
probably benign |
Het |
Dus3l |
C |
T |
17: 57,075,566 (GRCm39) |
R430C |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,169,640 (GRCm39) |
L279P |
possibly damaging |
Het |
Dzip3 |
G |
A |
16: 48,799,953 (GRCm39) |
Q112* |
probably null |
Het |
Eif1ad |
T |
A |
19: 5,418,219 (GRCm39) |
M1K |
probably null |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fancg |
T |
C |
4: 43,005,272 (GRCm39) |
E366G |
probably benign |
Het |
Gin1 |
C |
T |
1: 97,712,565 (GRCm39) |
P154S |
probably damaging |
Het |
Gm11938 |
A |
T |
11: 99,493,832 (GRCm39) |
C88S |
possibly damaging |
Het |
Gpr183 |
T |
C |
14: 122,192,149 (GRCm39) |
D124G |
probably damaging |
Het |
Iqub |
A |
T |
6: 24,479,183 (GRCm39) |
M453K |
probably benign |
Het |
Jcad |
A |
G |
18: 4,674,175 (GRCm39) |
T646A |
probably benign |
Het |
Kif23 |
A |
T |
9: 61,852,641 (GRCm39) |
D24E |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,571,175 (GRCm39) |
N845S |
probably damaging |
Het |
Lhx5 |
G |
A |
5: 120,578,032 (GRCm39) |
S284N |
probably benign |
Het |
Lipf |
T |
G |
19: 33,954,076 (GRCm39) |
V389G |
possibly damaging |
Het |
Lrrc7 |
C |
T |
3: 157,908,132 (GRCm39) |
|
probably null |
Het |
Magi1 |
A |
G |
6: 93,657,768 (GRCm39) |
|
probably null |
Het |
Mast2 |
A |
G |
4: 116,165,847 (GRCm39) |
S1287P |
probably damaging |
Het |
Mepce |
C |
T |
5: 137,784,905 (GRCm39) |
|
probably benign |
Het |
Mkrn1 |
A |
G |
6: 39,382,691 (GRCm39) |
V173A |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
Naip6 |
A |
G |
13: 100,431,239 (GRCm39) |
|
probably null |
Het |
Nsmce3 |
A |
T |
7: 64,522,530 (GRCm39) |
L46Q |
probably benign |
Het |
Or1n2 |
G |
A |
2: 36,797,405 (GRCm39) |
C149Y |
probably benign |
Het |
Or2j6 |
T |
G |
7: 139,980,218 (GRCm39) |
Y247S |
probably damaging |
Het |
Or4k44 |
A |
T |
2: 111,368,280 (GRCm39) |
M118K |
probably damaging |
Het |
Or51e2 |
A |
G |
7: 102,391,808 (GRCm39) |
V134A |
probably damaging |
Het |
Or56a3b |
T |
C |
7: 104,771,513 (GRCm39) |
L283P |
probably damaging |
Het |
Parp14 |
A |
G |
16: 35,678,691 (GRCm39) |
F426L |
probably benign |
Het |
Pcf11 |
A |
T |
7: 92,306,737 (GRCm39) |
S1144T |
possibly damaging |
Het |
Prpf3 |
T |
A |
3: 95,758,976 (GRCm39) |
T59S |
possibly damaging |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Ptk7 |
A |
G |
17: 46,885,392 (GRCm39) |
V678A |
probably benign |
Het |
Rb1 |
A |
G |
14: 73,511,116 (GRCm39) |
L331S |
probably damaging |
Het |
Relch |
A |
G |
1: 105,646,584 (GRCm39) |
I637V |
probably benign |
Het |
Sell |
A |
G |
1: 163,893,042 (GRCm39) |
Y86C |
probably damaging |
Het |
Serpina1e |
G |
A |
12: 103,914,341 (GRCm39) |
R328W |
probably damaging |
Het |
Sertad3 |
T |
G |
7: 27,176,091 (GRCm39) |
L175R |
possibly damaging |
Het |
Stard9 |
G |
T |
2: 120,529,121 (GRCm39) |
G1793W |
probably damaging |
Het |
Stra6 |
T |
C |
9: 58,056,517 (GRCm39) |
I383T |
probably benign |
Het |
Tcf7l1 |
A |
G |
6: 72,626,161 (GRCm39) |
L154P |
probably damaging |
Het |
Tent5c |
C |
A |
3: 100,380,515 (GRCm39) |
L80F |
probably benign |
Het |
Tonsl |
A |
T |
15: 76,507,610 (GRCm39) |
D55E |
probably benign |
Het |
Ttc21b |
A |
G |
2: 66,057,257 (GRCm39) |
S572P |
possibly damaging |
Het |
Ttc7 |
T |
A |
17: 87,654,048 (GRCm39) |
L575Q |
probably damaging |
Het |
Ubl4b |
C |
T |
3: 107,462,194 (GRCm39) |
S22N |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,163,502 (GRCm39) |
V2634A |
possibly damaging |
Het |
Zbed6 |
A |
G |
1: 133,584,778 (GRCm39) |
V853A |
probably benign |
Het |
Zfp46 |
A |
C |
4: 136,017,484 (GRCm39) |
D106A |
probably damaging |
Het |
Zfp951 |
A |
C |
5: 104,962,567 (GRCm39) |
I333S |
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 |
|
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'- CATCCACTTGTTCCCAGGAG -3'
(R):5'- AGCAAGGACTTGAGAAACTCTG -3'
Sequencing Primer
(F):5'- GGAATCTGCAGAGGAACCTCC -3'
(R):5'- GCATTTATTATTCCTGTCACCTGAGG -3'
|
Posted On |
2015-10-08 |