Incidental Mutation 'R9085:Gucy2g'
ID |
690572 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gucy2g
|
Ensembl Gene |
ENSMUSG00000055523 |
Gene Name |
guanylate cyclase 2g |
Synonyms |
2410077I05Rik, GC-G |
MMRRC Submission |
068904-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9085 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
55186531-55229668 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 55221597 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 301
(Y301*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068253
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069183]
|
AlphaFold |
Q6TL19 |
Predicted Effect |
probably null
Transcript: ENSMUST00000069183
AA Change: Y301*
|
SMART Domains |
Protein: ENSMUSP00000068253 Gene: ENSMUSG00000055523 AA Change: Y301*
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: 99.0%
|
Validation Efficiency |
100% (72/72) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg1l |
G |
A |
10: 42,194,637 (GRCm39) |
T385M |
probably damaging |
Het |
Arhgap29 |
T |
A |
3: 121,808,249 (GRCm39) |
D1142E |
probably benign |
Het |
Ash1l |
C |
T |
3: 88,889,294 (GRCm39) |
A391V |
probably benign |
Het |
Ash1l |
T |
C |
3: 88,891,529 (GRCm39) |
V1136A |
probably benign |
Het |
Cacna1c |
G |
T |
6: 118,615,466 (GRCm39) |
Y1308* |
probably null |
Het |
Cacna1g |
A |
T |
11: 94,334,046 (GRCm39) |
V865E |
probably benign |
Het |
Cbx2 |
C |
T |
11: 118,919,914 (GRCm39) |
T493M |
possibly damaging |
Het |
Cyp2a12 |
T |
C |
7: 26,735,944 (GRCm39) |
F451S |
probably damaging |
Het |
Dlec1 |
G |
T |
9: 118,953,252 (GRCm39) |
C572F |
probably damaging |
Het |
Dmtn |
A |
G |
14: 70,853,534 (GRCm39) |
S92P |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,839,237 (GRCm39) |
L1225P |
|
Het |
Dnah2 |
G |
T |
11: 69,320,224 (GRCm39) |
H3954Q |
possibly damaging |
Het |
Dntt |
C |
T |
19: 41,044,220 (GRCm39) |
R462C |
probably damaging |
Het |
Emc1 |
T |
C |
4: 139,094,474 (GRCm39) |
Y676H |
possibly damaging |
Het |
Epb41l4b |
A |
T |
4: 57,041,064 (GRCm39) |
|
probably null |
Het |
Fer |
T |
A |
17: 64,228,767 (GRCm39) |
M214K |
probably damaging |
Het |
Fgf17 |
A |
G |
14: 70,874,436 (GRCm39) |
F129L |
probably damaging |
Het |
Foxn3 |
C |
T |
12: 99,355,095 (GRCm39) |
S23N |
probably damaging |
Het |
Frmd4b |
A |
C |
6: 97,269,334 (GRCm39) |
S993A |
probably benign |
Het |
Gdap1l1 |
T |
C |
2: 163,280,508 (GRCm39) |
W15R |
probably damaging |
Het |
Golga5 |
T |
A |
12: 102,458,476 (GRCm39) |
S640T |
probably benign |
Het |
Il31ra |
T |
C |
13: 112,660,628 (GRCm39) |
S654G |
|
Het |
Lmnb2 |
T |
C |
10: 80,740,091 (GRCm39) |
D442G |
probably benign |
Het |
Lpin1 |
T |
C |
12: 16,623,715 (GRCm39) |
Y223C |
|
Het |
Lrrc37 |
A |
G |
11: 103,507,565 (GRCm39) |
Y1468H |
unknown |
Het |
Mast3 |
A |
T |
8: 71,249,361 (GRCm39) |
W53R |
unknown |
Het |
Mettl2 |
T |
C |
11: 105,021,274 (GRCm39) |
V180A |
possibly damaging |
Het |
Mospd3 |
C |
T |
5: 137,598,870 (GRCm39) |
|
probably benign |
Het |
Mrpl18 |
A |
T |
17: 13,134,582 (GRCm39) |
V61E |
probably damaging |
Het |
Mrtfb |
A |
C |
16: 13,230,092 (GRCm39) |
T926P |
probably damaging |
Het |
Muc2 |
T |
A |
7: 141,287,058 (GRCm39) |
C154S |
probably damaging |
Het |
Mypn |
T |
G |
10: 62,983,894 (GRCm39) |
|
probably null |
Het |
Nelfb |
C |
T |
2: 25,094,292 (GRCm39) |
C357Y |
probably damaging |
Het |
Nes |
T |
G |
3: 87,887,069 (GRCm39) |
V1776G |
possibly damaging |
Het |
Nin |
T |
A |
12: 70,076,786 (GRCm39) |
R1797* |
probably null |
Het |
Nxpe2 |
A |
T |
9: 48,250,872 (GRCm39) |
I25K |
probably benign |
Het |
Or4a39 |
A |
G |
2: 89,236,641 (GRCm39) |
S261P |
probably damaging |
Het |
Or5ak24 |
T |
A |
2: 85,260,619 (GRCm39) |
T185S |
probably benign |
Het |
Osbpl1a |
T |
C |
18: 13,062,093 (GRCm39) |
H60R |
probably damaging |
Het |
Papss1 |
C |
A |
3: 131,324,817 (GRCm39) |
H425N |
probably damaging |
Het |
Pde4dip |
T |
C |
3: 97,601,385 (GRCm39) |
N2344S |
probably benign |
Het |
Pde6c |
G |
A |
19: 38,166,569 (GRCm39) |
V704I |
probably benign |
Het |
Pknox1 |
C |
T |
17: 31,822,229 (GRCm39) |
T332M |
possibly damaging |
Het |
Pla2r1 |
A |
T |
2: 60,255,791 (GRCm39) |
V1251D |
probably damaging |
Het |
Plch2 |
T |
C |
4: 155,084,976 (GRCm39) |
D321G |
probably damaging |
Het |
Plec |
A |
G |
15: 76,057,275 (GRCm39) |
S4221P |
probably damaging |
Het |
Psg23 |
T |
G |
7: 18,348,660 (GRCm39) |
N49T |
possibly damaging |
Het |
Qrfpr |
A |
G |
3: 36,276,099 (GRCm39) |
F97S |
probably damaging |
Het |
Rab3ip |
G |
A |
10: 116,775,310 (GRCm39) |
S16L |
probably damaging |
Het |
Rbm43 |
A |
G |
2: 51,824,930 (GRCm39) |
|
probably benign |
Het |
Rpgrip1l |
T |
C |
8: 92,014,303 (GRCm39) |
N314D |
possibly damaging |
Het |
Rpn2 |
C |
T |
2: 157,125,567 (GRCm39) |
T26I |
possibly damaging |
Het |
Rsph6a |
A |
T |
7: 18,799,250 (GRCm39) |
N294Y |
probably damaging |
Het |
Serpinb9h |
T |
C |
13: 33,581,781 (GRCm39) |
Y113H |
probably damaging |
Het |
Sesn1 |
C |
T |
10: 41,686,835 (GRCm39) |
|
probably benign |
Het |
Sh3d19 |
T |
C |
3: 86,033,992 (GRCm39) |
Y782H |
probably damaging |
Het |
Sh3rf1 |
C |
A |
8: 61,802,493 (GRCm39) |
D275E |
probably benign |
Het |
Siglecg |
T |
C |
7: 43,061,049 (GRCm39) |
V374A |
probably benign |
Het |
Slc6a11 |
A |
T |
6: 114,202,808 (GRCm39) |
I301F |
probably damaging |
Het |
Spock1 |
A |
T |
13: 57,570,956 (GRCm39) |
F348I |
unknown |
Het |
Sptlc2 |
T |
C |
12: 87,382,839 (GRCm39) |
K422E |
probably benign |
Het |
Tas2r115 |
A |
T |
6: 132,714,327 (GRCm39) |
V208E |
probably benign |
Het |
Tmem132a |
G |
T |
19: 10,843,835 (GRCm39) |
Q174K |
probably damaging |
Het |
Tmtc1 |
A |
T |
6: 148,237,749 (GRCm39) |
Y338* |
probably null |
Het |
Tnfaip1 |
G |
T |
11: 78,420,965 (GRCm39) |
L32I |
probably damaging |
Het |
Tox2 |
T |
C |
2: 163,067,481 (GRCm39) |
C67R |
probably benign |
Het |
Ube2o |
C |
T |
11: 116,436,209 (GRCm39) |
G311S |
probably damaging |
Het |
Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
Vav3 |
C |
T |
3: 109,413,722 (GRCm39) |
A220V |
probably benign |
Het |
Xaf1 |
A |
G |
11: 72,197,419 (GRCm39) |
K132E |
probably benign |
Het |
Zeb1 |
T |
C |
18: 5,766,716 (GRCm39) |
L409S |
probably damaging |
Het |
Zfp51 |
T |
A |
17: 21,684,660 (GRCm39) |
L425H |
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 |
|
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 |
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'- TCTGTGTGAATGTGGATGCA -3'
(R):5'- CGGTTTGACAGTCTTTCCTGC -3'
Sequencing Primer
(F):5'- AATGTGGATGCATATGAATGTATGTG -3'
(R):5'- TGTGAACCTAGCATCGCAG -3'
|
Posted On |
2021-12-30 |