Incidental Mutation 'R8970:Gucy2g'
| ID |
683051 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2g
|
| Ensembl Gene |
ENSMUSG00000055523 |
| Gene Name |
guanylate cyclase 2g |
| Synonyms |
2410077I05Rik, GC-G |
| MMRRC Submission |
068804-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8970 (G1)
|
| Quality Score |
217.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
55186531-55229668 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55191478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 991
(E991G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069183]
|
| AlphaFold |
Q6TL19 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069183
AA Change: E991G
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: E991G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (69/70) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,545,726 (GRCm39) |
V467A |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,335,728 (GRCm39) |
V2113A |
probably benign |
Het |
| Adam10 |
A |
G |
9: 70,655,458 (GRCm39) |
N309D |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,099,983 (GRCm39) |
W698R |
probably benign |
Het |
| Adnp |
T |
C |
2: 168,031,290 (GRCm39) |
N7S |
possibly damaging |
Het |
| Ankar |
A |
G |
1: 72,691,496 (GRCm39) |
|
probably null |
Het |
| Ankrd34b |
T |
A |
13: 92,575,590 (GRCm39) |
I274K |
probably benign |
Het |
| Apela |
A |
T |
8: 65,489,601 (GRCm39) |
L6H |
unknown |
Het |
| Ash1l |
T |
C |
3: 88,976,307 (GRCm39) |
I2629T |
probably benign |
Het |
| Auts2 |
C |
T |
5: 132,287,791 (GRCm39) |
R64K |
possibly damaging |
Het |
| Bms1 |
A |
G |
6: 118,369,292 (GRCm39) |
V1003A |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,068,971 (GRCm39) |
V555A |
|
Het |
| C2cd6 |
T |
A |
1: 59,108,895 (GRCm39) |
H252L |
possibly damaging |
Het |
| Capn3 |
G |
T |
2: 120,294,566 (GRCm39) |
K71N |
possibly damaging |
Het |
| Chct1 |
A |
G |
11: 85,069,246 (GRCm39) |
E198G |
probably benign |
Het |
| Clec2l |
C |
A |
6: 38,657,122 (GRCm39) |
T195K |
possibly damaging |
Het |
| Col27a1 |
T |
C |
4: 63,134,105 (GRCm39) |
S15P |
unknown |
Het |
| Coro2b |
T |
C |
9: 62,333,809 (GRCm39) |
|
probably benign |
Het |
| Crocc2 |
A |
T |
1: 93,116,687 (GRCm39) |
T233S |
probably benign |
Het |
| Ddb1 |
A |
G |
19: 10,585,808 (GRCm39) |
Q174R |
probably benign |
Het |
| Denr |
C |
T |
5: 124,055,279 (GRCm39) |
P48L |
probably damaging |
Het |
| Dusp26 |
A |
G |
8: 31,584,232 (GRCm39) |
Y113C |
probably damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Evi5l |
A |
G |
8: 4,236,154 (GRCm39) |
|
probably benign |
Het |
| Fgf2 |
G |
T |
3: 37,458,767 (GRCm39) |
V96F |
probably benign |
Het |
| Gpr139 |
A |
G |
7: 118,744,034 (GRCm39) |
Y184H |
probably damaging |
Het |
| Gtf3c1 |
A |
C |
7: 125,272,227 (GRCm39) |
|
probably benign |
Het |
| Gucy1b2 |
A |
G |
14: 62,656,664 (GRCm39) |
V231A |
possibly damaging |
Het |
| Gvin1 |
A |
T |
7: 105,762,647 (GRCm39) |
H607Q |
probably damaging |
Het |
| Hal |
T |
C |
10: 93,325,036 (GRCm39) |
V15A |
probably damaging |
Het |
| Hes3 |
A |
G |
4: 152,376,036 (GRCm39) |
|
probably null |
Het |
| Il11 |
A |
G |
7: 4,779,181 (GRCm39) |
L72P |
probably damaging |
Het |
| Iqsec3 |
T |
A |
6: 121,366,528 (GRCm39) |
I785F |
probably damaging |
Het |
| Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
| Lrpprc |
T |
A |
17: 85,074,483 (GRCm39) |
T475S |
probably damaging |
Het |
| Lrrc63 |
T |
A |
14: 75,362,631 (GRCm39) |
T300S |
unknown |
Het |
| Lsamp |
A |
T |
16: 41,994,528 (GRCm39) |
I331F |
possibly damaging |
Het |
| Ltn1 |
A |
T |
16: 87,212,926 (GRCm39) |
I545K |
probably benign |
Het |
| Mab21l4 |
G |
C |
1: 93,087,533 (GRCm39) |
P107A |
probably benign |
Het |
| Med13l |
G |
A |
5: 118,883,164 (GRCm39) |
R1341H |
probably damaging |
Het |
| Msh4 |
T |
A |
3: 153,575,369 (GRCm39) |
K669* |
probably null |
Het |
| Myo10 |
T |
A |
15: 25,803,467 (GRCm39) |
L1558H |
possibly damaging |
Het |
| Ncbp1 |
G |
A |
4: 46,170,023 (GRCm39) |
V699M |
probably damaging |
Het |
| Or12k8 |
T |
A |
2: 36,975,478 (GRCm39) |
Y94F |
probably benign |
Het |
| Or56b1b |
A |
G |
7: 108,164,997 (GRCm39) |
S2P |
probably benign |
Het |
| Or5b114-ps1 |
T |
G |
19: 13,353,117 (GRCm39) |
S264A |
unknown |
Het |
| Or5b99 |
T |
A |
19: 12,976,353 (GRCm39) |
M1K |
probably null |
Het |
| Parpbp |
G |
A |
10: 87,962,186 (GRCm39) |
R165W |
probably damaging |
Het |
| Pcdhgb7 |
T |
A |
18: 37,885,631 (GRCm39) |
M267K |
probably benign |
Het |
| Pitx3 |
T |
A |
19: 46,125,540 (GRCm39) |
H68L |
possibly damaging |
Het |
| Ppfia4 |
A |
G |
1: 134,252,289 (GRCm39) |
L395P |
probably damaging |
Het |
| Pramel42 |
T |
C |
5: 94,685,645 (GRCm39) |
V435A |
probably benign |
Het |
| Ptprh |
T |
C |
7: 4,583,944 (GRCm39) |
D216G |
possibly damaging |
Het |
| Ptprs |
A |
G |
17: 56,730,353 (GRCm39) |
S1174P |
possibly damaging |
Het |
| Shf |
A |
G |
2: 122,187,654 (GRCm39) |
S51P |
probably benign |
Het |
| Sinhcaf |
A |
T |
6: 148,834,624 (GRCm39) |
F2I |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,822 (GRCm39) |
L65Q |
probably damaging |
Het |
| Srgap2 |
G |
A |
1: 131,226,104 (GRCm39) |
L390F |
|
Het |
| Srpk1 |
T |
C |
17: 28,818,493 (GRCm39) |
T448A |
probably benign |
Het |
| Stat5a |
A |
G |
11: 100,771,353 (GRCm39) |
D612G |
probably benign |
Het |
| Supt4a |
A |
T |
11: 87,633,645 (GRCm39) |
E67V |
probably benign |
Het |
| Tango6 |
T |
A |
8: 107,415,871 (GRCm39) |
C231S |
probably damaging |
Het |
| Th |
A |
G |
7: 142,446,796 (GRCm39) |
L490P |
probably damaging |
Het |
| Tpcn1 |
C |
T |
5: 120,682,518 (GRCm39) |
G497S |
probably damaging |
Het |
| Trim10 |
A |
T |
17: 37,184,168 (GRCm39) |
I254F |
probably benign |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Vmn2r124 |
G |
T |
17: 18,294,439 (GRCm39) |
R842L |
probably benign |
Het |
| Vmn2r56 |
T |
C |
7: 12,428,632 (GRCm39) |
R545G |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,222,244 (GRCm39) |
T659A |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,852,803 (GRCm39) |
M2361T |
probably benign |
Het |
| Zfp217 |
T |
C |
2: 169,956,997 (GRCm39) |
D667G |
possibly damaging |
Het |
| Zfp952 |
T |
G |
17: 33,221,810 (GRCm39) |
C96W |
probably benign |
Het |
| Zfp959 |
A |
G |
17: 56,204,836 (GRCm39) |
Q291R |
possibly damaging |
Het |
| Zscan4-ps3 |
T |
C |
7: 11,344,414 (GRCm39) |
V124A |
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 |
|
|
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 |
|
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'- AAATGTAGCCCAGCATGGTTCC -3'
(R):5'- GGAACCCTAAGTGTGCTGTG -3'
Sequencing Primer
(F):5'- GCGTCCGGTTTTAAAACAGC -3'
(R):5'- AACCCTAAGTGTGCTGTGTTGTAC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation