Incidental Mutation 'R7880:Gucy2g'
| ID |
608727 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2g
|
| Ensembl Gene |
ENSMUSG00000055523 |
| Gene Name |
guanylate cyclase 2g |
| Synonyms |
2410077I05Rik, GC-G |
| MMRRC Submission |
045932-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7880 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
55186531-55229668 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55194712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 902
(I902F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069183]
|
| AlphaFold |
Q6TL19 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069183
AA Change: I902F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: I902F
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
T |
A |
7: 133,511,691 (GRCm39) |
D703V |
possibly damaging |
Het |
| Adamts1 |
G |
A |
16: 85,594,940 (GRCm39) |
R340* |
probably null |
Het |
| Akap13 |
A |
G |
7: 75,235,964 (GRCm39) |
T180A |
probably damaging |
Het |
| Arhgap31 |
G |
A |
16: 38,423,087 (GRCm39) |
A993V |
probably benign |
Het |
| Asxl3 |
C |
T |
18: 22,655,208 (GRCm39) |
P1073S |
possibly damaging |
Het |
| Bmp3 |
T |
G |
5: 99,020,434 (GRCm39) |
S286A |
probably damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,326,116 (GRCm39) |
S1078F |
probably damaging |
Het |
| Cd101 |
A |
G |
3: 100,915,182 (GRCm39) |
L799P |
probably benign |
Het |
| Chst13 |
C |
T |
6: 90,302,062 (GRCm39) |
R28H |
possibly damaging |
Het |
| CN725425 |
T |
A |
15: 91,130,308 (GRCm39) |
C390* |
probably null |
Het |
| Crabp1 |
C |
A |
9: 54,672,942 (GRCm39) |
C82* |
probably null |
Het |
| Cyp2b23 |
A |
C |
7: 26,372,559 (GRCm39) |
V352G |
probably damaging |
Het |
| Dmrta1 |
T |
A |
4: 89,577,081 (GRCm39) |
V179E |
possibly damaging |
Het |
| Ect2l |
T |
C |
10: 18,012,702 (GRCm39) |
D839G |
possibly damaging |
Het |
| Espnl |
A |
T |
1: 91,272,488 (GRCm39) |
E616V |
possibly damaging |
Het |
| Fam50b |
C |
A |
13: 34,930,802 (GRCm39) |
Q93K |
probably benign |
Het |
| Focad |
C |
T |
4: 88,319,407 (GRCm39) |
R1539C |
unknown |
Het |
| Gm14443 |
T |
A |
2: 175,011,163 (GRCm39) |
I428L |
probably benign |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
| Gramd1c |
C |
G |
16: 43,812,439 (GRCm39) |
A193P |
probably benign |
Het |
| Gsn |
A |
G |
2: 35,173,939 (GRCm39) |
H54R |
probably damaging |
Het |
| H2-T9 |
T |
A |
17: 36,438,761 (GRCm39) |
H210L |
possibly damaging |
Het |
| Heg1 |
T |
C |
16: 33,539,879 (GRCm39) |
S280P |
possibly damaging |
Het |
| Herc1 |
G |
T |
9: 66,415,506 (GRCm39) |
R4827L |
probably damaging |
Het |
| Igsf21 |
A |
G |
4: 139,884,819 (GRCm39) |
C46R |
probably damaging |
Het |
| Kansl1 |
G |
T |
11: 104,314,979 (GRCm39) |
A353D |
probably damaging |
Het |
| Kcnab3 |
A |
G |
11: 69,222,290 (GRCm39) |
Y311C |
probably damaging |
Het |
| Kctd18 |
A |
G |
1: 58,006,778 (GRCm39) |
I24T |
possibly damaging |
Het |
| Lpcat4 |
C |
A |
2: 112,070,376 (GRCm39) |
H30N |
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,461,143 (GRCm39) |
I590V |
probably benign |
Het |
| Lrrc69 |
T |
C |
4: 14,703,946 (GRCm39) |
I291M |
possibly damaging |
Het |
| Nsun6 |
A |
C |
2: 15,001,190 (GRCm39) |
C455W |
probably damaging |
Het |
| Or12e1 |
T |
A |
2: 87,022,434 (GRCm39) |
C134* |
probably null |
Het |
| Or4c3 |
A |
T |
2: 89,852,381 (GRCm39) |
F10I |
probably damaging |
Het |
| Or5ak22 |
G |
T |
2: 85,230,379 (GRCm39) |
S166Y |
possibly damaging |
Het |
| Or7g19 |
T |
G |
9: 18,856,024 (GRCm39) |
L27V |
probably benign |
Het |
| Orc6 |
T |
C |
8: 86,031,873 (GRCm39) |
I162T |
probably benign |
Het |
| Pex13 |
A |
T |
11: 23,599,369 (GRCm39) |
S381T |
probably benign |
Het |
| Ppil1 |
G |
A |
17: 29,480,762 (GRCm39) |
H54Y |
probably damaging |
Het |
| Prrt4 |
T |
C |
6: 29,170,155 (GRCm39) |
I766V |
probably benign |
Het |
| Rab32 |
C |
T |
10: 10,422,159 (GRCm39) |
V187M |
probably damaging |
Het |
| Sema5a |
T |
A |
15: 32,686,954 (GRCm39) |
I1022N |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,191,132 (GRCm39) |
T953A |
probably damaging |
Het |
| Snapc3 |
T |
C |
4: 83,353,431 (GRCm39) |
S157P |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,119,393 (GRCm39) |
R235G |
probably benign |
Het |
| Stx5a |
G |
A |
19: 8,719,692 (GRCm39) |
G19D |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,577,726 (GRCm39) |
R532* |
probably null |
Het |
| Tmpo |
T |
A |
10: 91,001,892 (GRCm39) |
K106* |
probably null |
Het |
| Trnt1 |
T |
C |
6: 106,746,517 (GRCm39) |
|
probably null |
Het |
| Vmn1r228 |
A |
T |
17: 20,996,672 (GRCm39) |
I282N |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,907,684 (GRCm39) |
|
probably null |
Het |
| Zfp703 |
A |
G |
8: 27,468,718 (GRCm39) |
I51V |
unknown |
Het |
| Zfp787 |
A |
G |
7: 6,135,190 (GRCm39) |
F354L |
probably benign |
Het |
| Znrf2 |
T |
C |
6: 54,794,332 (GRCm39) |
V111A |
probably benign |
Het |
| Zwint |
G |
T |
10: 72,492,924 (GRCm39) |
R182L |
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 |
|
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'- ATGGGGAGTCTGTGCATCAC -3'
(R):5'- AACACCAAGTGAATAAATGCGTGTC -3'
Sequencing Primer
(F):5'- TGTGCATCACAGCCCAG -3'
(R):5'- AAATGCGTGTCATTAAGTCCCTC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation