Incidental Mutation 'R6250:Gucy2g'
| ID |
505946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2g
|
| Ensembl Gene |
ENSMUSG00000055523 |
| Gene Name |
guanylate cyclase 2g |
| Synonyms |
2410077I05Rik, GC-G |
| MMRRC Submission |
044367-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6250 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
55186531-55229668 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55205856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 668
(L668Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069183]
|
| AlphaFold |
Q6TL19 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069183
AA Change: L668Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: L668Q
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (60/61) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
T |
C |
2: 150,681,667 (GRCm39) |
Y241C |
probably damaging |
Het |
| Ak9 |
T |
C |
10: 41,265,030 (GRCm39) |
V929A |
possibly damaging |
Het |
| Ap3s1 |
T |
C |
18: 46,887,514 (GRCm39) |
F49S |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,799,736 (GRCm39) |
H801R |
probably benign |
Het |
| B430218F22Rik |
A |
G |
13: 118,523,944 (GRCm39) |
|
probably benign |
Het |
| Ccnd3 |
T |
A |
17: 47,908,487 (GRCm39) |
L186* |
probably null |
Het |
| Cnbd1 |
T |
A |
4: 19,098,255 (GRCm39) |
Q55L |
probably benign |
Het |
| Commd10 |
A |
G |
18: 47,096,755 (GRCm39) |
E54G |
probably damaging |
Het |
| Cplx3 |
A |
G |
9: 57,522,907 (GRCm39) |
V151A |
probably benign |
Het |
| D6Ertd527e |
G |
A |
6: 87,088,194 (GRCm39) |
G119D |
unknown |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Disp2 |
A |
T |
2: 118,621,247 (GRCm39) |
I660F |
probably damaging |
Het |
| Eef1a2 |
A |
G |
2: 180,792,853 (GRCm39) |
F211L |
possibly damaging |
Het |
| Epb41 |
A |
T |
4: 131,717,184 (GRCm39) |
F323L |
probably damaging |
Het |
| Eps8l3 |
A |
T |
3: 107,797,781 (GRCm39) |
I403F |
probably benign |
Het |
| Ercc5 |
T |
A |
1: 44,203,209 (GRCm39) |
V282D |
probably damaging |
Het |
| Faim |
A |
T |
9: 98,874,176 (GRCm39) |
M1L |
probably benign |
Het |
| Fbxo24 |
A |
G |
5: 137,619,543 (GRCm39) |
F111L |
probably damaging |
Het |
| Fcgbpl1 |
G |
A |
7: 27,850,139 (GRCm39) |
G1195D |
probably damaging |
Het |
| Glrx |
A |
T |
13: 75,988,229 (GRCm39) |
I48F |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,477,561 (GRCm39) |
D2828G |
possibly damaging |
Het |
| Hivep2 |
T |
C |
10: 14,007,503 (GRCm39) |
V1367A |
probably benign |
Het |
| Hrob |
A |
G |
11: 102,145,888 (GRCm39) |
T55A |
probably benign |
Het |
| Ipo13 |
A |
G |
4: 117,769,351 (GRCm39) |
V147A |
possibly damaging |
Het |
| Jchain |
T |
C |
5: 88,674,034 (GRCm39) |
T37A |
probably benign |
Het |
| Kif1b |
A |
G |
4: 149,298,100 (GRCm39) |
V1034A |
probably benign |
Het |
| Krt25 |
T |
A |
11: 99,211,989 (GRCm39) |
N216I |
probably damaging |
Het |
| Mfsd4b1 |
T |
C |
10: 39,879,106 (GRCm39) |
S264G |
possibly damaging |
Het |
| Mxra8 |
G |
T |
4: 155,925,546 (GRCm39) |
R82L |
possibly damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,072,625 (GRCm39) |
I406N |
probably benign |
Het |
| Or13c7 |
T |
C |
4: 43,854,363 (GRCm39) |
L18P |
possibly damaging |
Het |
| Or2y11 |
A |
T |
11: 49,442,711 (GRCm39) |
I46F |
probably damaging |
Het |
| Or5h23 |
G |
A |
16: 58,906,195 (GRCm39) |
S217F |
probably damaging |
Het |
| Pak5 |
T |
C |
2: 136,016,189 (GRCm39) |
|
probably benign |
Het |
| Pcsk4 |
T |
C |
10: 80,161,426 (GRCm39) |
R222G |
probably benign |
Het |
| Pik3cb |
A |
C |
9: 98,976,651 (GRCm39) |
F149V |
probably benign |
Het |
| Plscr4 |
G |
A |
9: 92,366,881 (GRCm39) |
R165Q |
possibly damaging |
Het |
| Ppp2r2a |
A |
T |
14: 67,276,403 (GRCm39) |
V34E |
probably damaging |
Het |
| Prpf8 |
T |
G |
11: 75,384,334 (GRCm39) |
S659R |
possibly damaging |
Het |
| Ptprd |
A |
G |
4: 76,047,232 (GRCm39) |
S342P |
probably damaging |
Het |
| Pum2 |
T |
C |
12: 8,794,755 (GRCm39) |
|
probably null |
Het |
| Ranbp3 |
T |
G |
17: 56,984,208 (GRCm39) |
|
probably null |
Het |
| Rassf7 |
A |
G |
7: 140,797,156 (GRCm39) |
E123G |
probably damaging |
Het |
| Rcor1 |
G |
T |
12: 111,078,311 (GRCm39) |
A469S |
probably benign |
Het |
| Rcor3 |
G |
T |
1: 191,785,196 (GRCm39) |
P524Q |
probably damaging |
Het |
| Rnf44 |
A |
T |
13: 54,829,920 (GRCm39) |
|
probably null |
Het |
| Rtf1 |
T |
C |
2: 119,505,658 (GRCm39) |
V37A |
unknown |
Het |
| Sdc4 |
A |
T |
2: 164,273,138 (GRCm39) |
D57E |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 78,901,217 (GRCm39) |
T817A |
probably benign |
Het |
| Setd1a |
A |
G |
7: 127,390,471 (GRCm39) |
E506G |
unknown |
Het |
| Slc30a8 |
G |
A |
15: 52,198,545 (GRCm39) |
R330Q |
probably benign |
Het |
| Snx22 |
C |
A |
9: 65,976,923 (GRCm39) |
E14* |
probably null |
Het |
| Spata31d1a |
A |
G |
13: 59,849,615 (GRCm39) |
S838P |
possibly damaging |
Het |
| Sprr4 |
G |
T |
3: 92,407,770 (GRCm39) |
Q11K |
unknown |
Het |
| Trpm3 |
A |
G |
19: 22,887,418 (GRCm39) |
N839S |
probably benign |
Het |
| Vps9d1 |
T |
C |
8: 123,974,947 (GRCm39) |
|
probably null |
Het |
| Vwa3b |
T |
C |
1: 37,090,966 (GRCm39) |
|
probably null |
Het |
| Ythdf1 |
T |
C |
2: 180,552,893 (GRCm39) |
T414A |
probably damaging |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
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 |
|
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'- GCCAATGGCTACCTGAATGG -3'
(R):5'- AGTCCCAGACGCTCCATTAG -3'
Sequencing Primer
(F):5'- CTGAATGGTCTGTGGCCTCC -3'
(R):5'- ATGGAAAGGCCCCAGTGCTC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation