Incidental Mutation 'R4969:Gucy2g'
| ID |
384320 |
| 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 # |
R4969 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
55186531-55229668 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55214445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 561
(V561A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069183]
|
| AlphaFold |
Q6TL19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069183
AA Change: V561A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: V561A
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,754,943 (GRCm39) |
I1525T |
probably benign |
Het |
| Agtpbp1 |
A |
G |
13: 59,648,392 (GRCm39) |
V476A |
probably benign |
Het |
| Aipl1 |
A |
G |
11: 71,922,256 (GRCm39) |
I151T |
probably benign |
Het |
| Apc |
C |
T |
18: 34,445,971 (GRCm39) |
R938* |
probably null |
Het |
| Atp2a2 |
A |
G |
5: 122,596,554 (GRCm39) |
F855S |
possibly damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,223,075 (GRCm39) |
T261A |
possibly damaging |
Het |
| Cbfa2t2 |
A |
G |
2: 154,365,900 (GRCm39) |
D370G |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,736,025 (GRCm39) |
I2964V |
probably damaging |
Het |
| Clec16a |
T |
C |
16: 10,386,375 (GRCm39) |
V158A |
probably damaging |
Het |
| Col6a5 |
G |
A |
9: 105,741,806 (GRCm39) |
T2371I |
probably damaging |
Het |
| Cpne8 |
T |
C |
15: 90,503,929 (GRCm39) |
T79A |
probably damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,780,413 (GRCm39) |
R145G |
probably damaging |
Het |
| Disc1 |
G |
A |
8: 125,851,289 (GRCm39) |
W391* |
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,941,988 (GRCm39) |
V1745I |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,376,886 (GRCm39) |
V1557A |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,637,145 (GRCm39) |
Y194N |
probably damaging |
Het |
| Eif4a3 |
A |
G |
11: 119,179,705 (GRCm39) |
Y361H |
probably damaging |
Het |
| Esd |
T |
A |
14: 74,982,153 (GRCm39) |
S189R |
possibly damaging |
Het |
| Fancf |
A |
T |
7: 51,511,196 (GRCm39) |
Y269* |
probably null |
Het |
| Fbln2 |
A |
T |
6: 91,248,569 (GRCm39) |
H1078L |
possibly damaging |
Het |
| Fbxw13 |
A |
G |
9: 109,010,592 (GRCm39) |
|
probably null |
Het |
| Fcgr2b |
A |
T |
1: 170,790,941 (GRCm39) |
V284D |
probably benign |
Het |
| Fuz |
G |
A |
7: 44,549,718 (GRCm39) |
G363R |
probably damaging |
Het |
| Gas7 |
A |
G |
11: 67,574,234 (GRCm39) |
E403G |
probably damaging |
Het |
| Gnl1 |
A |
G |
17: 36,291,581 (GRCm39) |
D49G |
possibly damaging |
Het |
| H1f7 |
A |
T |
15: 98,154,216 (GRCm39) |
V311E |
unknown |
Het |
| Hebp2 |
T |
C |
10: 18,420,122 (GRCm39) |
T104A |
probably benign |
Het |
| Ighv1-19 |
T |
A |
12: 114,672,377 (GRCm39) |
Q80L |
probably benign |
Het |
| Kctd19 |
T |
A |
8: 106,122,959 (GRCm39) |
|
probably null |
Het |
| Kdm3b |
T |
C |
18: 34,955,428 (GRCm39) |
L905P |
probably damaging |
Het |
| Klkb1 |
T |
C |
8: 45,735,814 (GRCm39) |
D183G |
probably benign |
Het |
| Krt6b |
T |
C |
15: 101,588,460 (GRCm39) |
R67G |
possibly damaging |
Het |
| Krt75 |
T |
C |
15: 101,482,248 (GRCm39) |
I7V |
probably benign |
Het |
| Lpo |
A |
T |
11: 87,697,751 (GRCm39) |
N685K |
probably benign |
Het |
| Mroh7 |
A |
T |
4: 106,538,070 (GRCm39) |
I1202N |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,754,572 (GRCm38) |
M1482K |
probably benign |
Het |
| Mylk |
T |
A |
16: 34,791,810 (GRCm39) |
V1494E |
probably damaging |
Het |
| Neurl4 |
A |
G |
11: 69,801,913 (GRCm39) |
D17G |
probably damaging |
Het |
| Nkx6-3 |
A |
G |
8: 23,647,725 (GRCm39) |
Y228C |
probably damaging |
Het |
| Nprl2 |
G |
A |
9: 107,420,273 (GRCm39) |
|
probably null |
Het |
| Nxf1 |
A |
G |
19: 8,739,669 (GRCm39) |
|
probably null |
Het |
| Or4a39 |
A |
G |
2: 89,236,770 (GRCm39) |
F218L |
probably benign |
Het |
| Or52u1 |
A |
T |
7: 104,237,730 (GRCm39) |
N240Y |
probably damaging |
Het |
| Pde3b |
A |
G |
7: 114,118,847 (GRCm39) |
E662G |
possibly damaging |
Het |
| Plekhm3 |
G |
A |
1: 64,977,078 (GRCm39) |
R131C |
probably damaging |
Het |
| Plpp7 |
T |
C |
2: 31,985,950 (GRCm39) |
S43P |
probably benign |
Het |
| Pramel5 |
A |
G |
4: 143,998,187 (GRCm39) |
L352P |
probably damaging |
Het |
| Prepl |
T |
C |
17: 85,395,902 (GRCm39) |
S27G |
probably benign |
Het |
| Ptprd |
A |
G |
4: 76,051,542 (GRCm39) |
I227T |
probably damaging |
Het |
| Pttg1ip |
C |
T |
10: 77,419,854 (GRCm39) |
Q6* |
probably null |
Het |
| Rgl1 |
C |
T |
1: 152,424,813 (GRCm39) |
|
probably null |
Het |
| Riiad1 |
C |
A |
3: 94,380,173 (GRCm39) |
G41* |
probably null |
Het |
| Rnf214 |
C |
T |
9: 45,807,486 (GRCm39) |
R239H |
probably damaging |
Het |
| Rpap3 |
C |
T |
15: 97,584,407 (GRCm39) |
V346I |
probably benign |
Het |
| Scaf4 |
G |
A |
16: 90,048,831 (GRCm39) |
Q328* |
probably null |
Het |
| Sec23a |
A |
G |
12: 59,051,274 (GRCm39) |
|
probably null |
Het |
| Slc5a8 |
T |
A |
10: 88,740,774 (GRCm39) |
|
probably null |
Het |
| Slc9a8 |
A |
G |
2: 167,288,449 (GRCm39) |
T183A |
probably benign |
Het |
| Sod3 |
A |
T |
5: 52,525,736 (GRCm39) |
H145L |
probably damaging |
Het |
| Sp4 |
A |
G |
12: 118,263,341 (GRCm39) |
V235A |
probably damaging |
Het |
| Spp1 |
A |
C |
5: 104,588,153 (GRCm39) |
E185A |
possibly damaging |
Het |
| Susd1 |
A |
T |
4: 59,351,679 (GRCm39) |
W461R |
probably benign |
Het |
| Svil |
A |
C |
18: 5,095,516 (GRCm39) |
K1124Q |
probably damaging |
Het |
| Tdrd12 |
A |
T |
7: 35,186,720 (GRCm39) |
|
probably null |
Het |
| Terb1 |
A |
T |
8: 105,221,795 (GRCm39) |
N168K |
probably benign |
Het |
| Tnnt1 |
A |
G |
7: 4,510,573 (GRCm39) |
L216P |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,424,121 (GRCm39) |
K1463E |
probably damaging |
Het |
| Twf2 |
T |
G |
9: 106,089,098 (GRCm39) |
|
probably null |
Het |
| Urb1 |
C |
T |
16: 90,602,299 (GRCm39) |
R90Q |
probably damaging |
Het |
| Wdr45b |
A |
T |
11: 121,219,650 (GRCm39) |
C299* |
probably null |
Het |
| Wrap73 |
A |
G |
4: 154,237,138 (GRCm39) |
S54G |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,888,931 (GRCm39) |
K323R |
probably damaging |
Het |
| Zfp410 |
T |
C |
12: 84,378,582 (GRCm39) |
I302T |
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 |
|
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 |
|
|
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'- GTTACAGAAACACCAGTCTAGAGAC -3'
(R):5'- TAGAGCCTGTACTACCCACG -3'
Sequencing Primer
(F):5'- GTCTAGAGACACAAACCCACCTGG -3'
(R):5'- TGTACTACCCACGCTGGTG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation