Incidental Mutation 'R5050:Gucy2g'
| ID |
394622 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2g
|
| Ensembl Gene |
ENSMUSG00000055523 |
| Gene Name |
guanylate cyclase 2g |
| Synonyms |
2410077I05Rik, GC-G |
| MMRRC Submission |
042640-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5050 (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 55229367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 101
(E101G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069183]
|
| AlphaFold |
Q6TL19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069183
AA Change: E101G
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: E101G
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
100% (69/69) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,989,822 (GRCm39) |
|
probably benign |
Het |
| Ap3m1 |
A |
G |
14: 21,094,843 (GRCm39) |
I108T |
probably benign |
Het |
| Apobec1 |
T |
C |
6: 122,568,061 (GRCm39) |
M1V |
probably null |
Het |
| Aqr |
A |
T |
2: 113,943,090 (GRCm39) |
L1161* |
probably null |
Het |
| Aqr |
A |
T |
2: 114,000,506 (GRCm39) |
|
probably null |
Het |
| Arhgef37 |
A |
G |
18: 61,637,402 (GRCm39) |
I420T |
probably benign |
Het |
| Cacna1g |
C |
T |
11: 94,350,541 (GRCm39) |
E435K |
probably damaging |
Het |
| Card6 |
G |
T |
15: 5,129,858 (GRCm39) |
H513N |
probably benign |
Het |
| Ccdc158 |
A |
C |
5: 92,814,738 (GRCm39) |
F29L |
probably benign |
Het |
| Ccr6 |
T |
C |
17: 8,474,936 (GRCm39) |
L47S |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 179,900,018 (GRCm39) |
Y444* |
probably null |
Het |
| Cdh17 |
A |
G |
4: 11,784,654 (GRCm39) |
Y270C |
probably damaging |
Het |
| Cdh9 |
T |
C |
15: 16,778,233 (GRCm39) |
F16S |
probably benign |
Het |
| Cdkl1 |
T |
C |
12: 69,804,014 (GRCm39) |
K141R |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,664,578 (GRCm39) |
I494F |
probably damaging |
Het |
| Chd4 |
T |
C |
6: 125,084,443 (GRCm39) |
Y692H |
probably damaging |
Het |
| Dhrs7 |
T |
A |
12: 72,704,184 (GRCm39) |
D104V |
probably damaging |
Het |
| Dhtkd1 |
A |
T |
2: 5,922,500 (GRCm39) |
L553Q |
probably benign |
Het |
| Dnah7a |
T |
G |
1: 53,536,255 (GRCm39) |
D2596A |
probably benign |
Het |
| Dync1li2 |
T |
C |
8: 105,164,073 (GRCm39) |
K151E |
probably damaging |
Het |
| Eno4 |
C |
T |
19: 58,943,928 (GRCm39) |
H297Y |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,019,156 (GRCm39) |
D976E |
possibly damaging |
Het |
| Fhip2a |
T |
A |
19: 57,371,602 (GRCm39) |
F571L |
probably damaging |
Het |
| Gm4553 |
C |
A |
7: 141,718,773 (GRCm39) |
K218N |
unknown |
Het |
| Gpld1 |
A |
T |
13: 25,146,739 (GRCm39) |
T234S |
probably benign |
Het |
| Gtpbp6 |
A |
T |
5: 110,252,567 (GRCm39) |
|
probably benign |
Het |
| Gvin3 |
T |
C |
7: 106,196,179 (GRCm39) |
|
noncoding transcript |
Het |
| Hira |
G |
A |
16: 18,744,609 (GRCm39) |
R442K |
possibly damaging |
Het |
| Hrh3 |
A |
G |
2: 179,742,350 (GRCm39) |
L394P |
probably damaging |
Het |
| Igkv1-110 |
T |
A |
6: 68,248,176 (GRCm39) |
F95Y |
probably damaging |
Het |
| Iqgap3 |
T |
G |
3: 87,997,493 (GRCm39) |
V223G |
probably damaging |
Het |
| Itpk1 |
T |
C |
12: 102,671,069 (GRCm39) |
T3A |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,927,074 (GRCm39) |
V895A |
possibly damaging |
Het |
| Kazn |
G |
A |
4: 141,845,514 (GRCm39) |
|
probably benign |
Het |
| Large2 |
A |
T |
2: 92,198,124 (GRCm39) |
L282Q |
probably benign |
Het |
| Lgmn |
A |
G |
12: 102,369,680 (GRCm39) |
|
probably null |
Het |
| Lrp4 |
A |
T |
2: 91,322,767 (GRCm39) |
I1119F |
probably benign |
Het |
| Map3k19 |
T |
C |
1: 127,751,299 (GRCm39) |
H684R |
probably benign |
Het |
| Mier3 |
C |
T |
13: 111,851,107 (GRCm39) |
A367V |
possibly damaging |
Het |
| Mpdz |
A |
G |
4: 81,213,685 (GRCm39) |
V1579A |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,929,932 (GRCm39) |
D6V |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,473,670 (GRCm39) |
I1568V |
probably benign |
Het |
| Or52e8b |
T |
A |
7: 104,673,594 (GRCm39) |
I198F |
probably damaging |
Het |
| Plch2 |
C |
T |
4: 155,127,766 (GRCm39) |
|
probably benign |
Het |
| Plek |
T |
C |
11: 16,945,216 (GRCm39) |
D38G |
probably damaging |
Het |
| Polr2f |
A |
G |
15: 79,028,862 (GRCm39) |
|
probably benign |
Het |
| Samsn1 |
A |
G |
16: 75,685,645 (GRCm39) |
S38P |
probably benign |
Het |
| Sf1 |
C |
T |
19: 6,422,589 (GRCm39) |
T248I |
probably damaging |
Het |
| Sgms2 |
C |
T |
3: 131,124,005 (GRCm39) |
V232M |
probably benign |
Het |
| Sharpin |
A |
T |
15: 76,232,530 (GRCm39) |
L160H |
probably damaging |
Het |
| Sympk |
C |
T |
7: 18,769,967 (GRCm39) |
R215C |
probably benign |
Het |
| Syn3 |
T |
C |
10: 86,243,532 (GRCm39) |
T136A |
probably benign |
Het |
| Tcam1 |
G |
A |
11: 106,176,278 (GRCm39) |
V335M |
possibly damaging |
Het |
| Tedc1 |
G |
T |
12: 113,120,325 (GRCm39) |
V56L |
possibly damaging |
Het |
| Tenm4 |
T |
C |
7: 96,544,995 (GRCm39) |
L2337P |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,715,155 (GRCm39) |
|
probably benign |
Het |
| Tysnd1 |
T |
A |
10: 61,532,050 (GRCm39) |
I234N |
probably damaging |
Het |
| Vmn2r51 |
T |
C |
7: 9,834,349 (GRCm39) |
K230E |
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 |
|
|
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'- GTCCTTATATAATGCAGTGCCATCTAC -3'
(R):5'- GACTTGTCTCGAAGCTGCTAAG -3'
Sequencing Primer
(F):5'- AGAATACTCCGTACTCTACC -3'
(R):5'- TGCTAAGCTCACCGTGGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation