Incidental Mutation 'R0576:Gucy2g'
| ID |
56253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2g
|
| Ensembl Gene |
ENSMUSG00000055523 |
| Gene Name |
guanylate cyclase 2g |
| Synonyms |
2410077I05Rik, GC-G |
| MMRRC Submission |
038766-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0576 (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 55187202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1073
(T1073A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025936]
[ENSMUST00000069183]
[ENSMUST00000120936]
|
| AlphaFold |
Q6TL19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025936
|
| SMART Domains |
Protein: ENSMUSP00000025936
Gene: ENSMUSG00000024979
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
ZP
|
31 |
283 |
3.47e-50 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069183
AA Change: T1073A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: T1073A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120936
|
| SMART Domains |
Protein: ENSMUSP00000113805
Gene: ENSMUSG00000024979
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
ZP
|
31 |
293 |
1.9e-47 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124545
|
| SMART Domains |
Protein: ENSMUSP00000117645
Gene: ENSMUSG00000024979
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Zona_pellucida
|
3 |
116 |
5.9e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148123
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.6%
- 20x: 94.9%
|
| Validation Efficiency |
92% (47/51) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc77 |
T |
A |
6: 120,308,809 (GRCm39) |
L335F |
probably benign |
Het |
| Ccr3 |
T |
A |
9: 123,829,046 (GRCm39) |
F127Y |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,785,579 (GRCm39) |
N437S |
probably benign |
Het |
| Cfh |
A |
G |
1: 140,064,553 (GRCm39) |
V365A |
probably damaging |
Het |
| Copg1 |
T |
A |
6: 87,874,945 (GRCm39) |
V380D |
probably damaging |
Het |
| Cxxc1 |
T |
C |
18: 74,353,256 (GRCm39) |
I497T |
possibly damaging |
Het |
| Disp3 |
G |
A |
4: 148,326,047 (GRCm39) |
T1237I |
possibly damaging |
Het |
| Dnaaf9 |
A |
T |
2: 130,555,390 (GRCm39) |
F839L |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,675,246 (GRCm39) |
F360L |
probably benign |
Het |
| Dnhd1 |
C |
T |
7: 105,363,252 (GRCm39) |
A3938V |
probably damaging |
Het |
| Eif4g1 |
A |
G |
16: 20,502,818 (GRCm39) |
D1000G |
probably damaging |
Het |
| Emsy |
A |
T |
7: 98,242,983 (GRCm39) |
V1052D |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,858,959 (GRCm39) |
|
probably benign |
Het |
| Fa2h |
T |
C |
8: 112,082,779 (GRCm39) |
H146R |
probably damaging |
Het |
| Gad1 |
G |
A |
2: 70,424,996 (GRCm39) |
C430Y |
probably benign |
Het |
| Gtse1 |
T |
C |
15: 85,753,252 (GRCm39) |
S456P |
probably damaging |
Het |
| Hectd2 |
T |
G |
19: 36,562,897 (GRCm39) |
N3K |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,525,768 (GRCm39) |
C3318* |
probably null |
Het |
| Lipo2 |
C |
T |
19: 33,726,824 (GRCm39) |
S71N |
probably benign |
Het |
| Mynn |
G |
T |
3: 30,661,217 (GRCm39) |
D100Y |
probably damaging |
Het |
| Myo16 |
G |
A |
8: 10,612,318 (GRCm39) |
|
probably null |
Het |
| Npr2 |
G |
T |
4: 43,640,947 (GRCm39) |
K384N |
probably benign |
Het |
| Nrde2 |
A |
G |
12: 100,098,492 (GRCm39) |
V725A |
possibly damaging |
Het |
| Or11h23 |
T |
A |
14: 50,948,661 (GRCm39) |
S291R |
probably damaging |
Het |
| Or2l13 |
A |
G |
16: 19,305,938 (GRCm39) |
M117V |
probably damaging |
Het |
| Otud7a |
C |
T |
7: 63,335,266 (GRCm39) |
P101S |
possibly damaging |
Het |
| Pcdhb7 |
T |
A |
18: 37,475,410 (GRCm39) |
L182Q |
probably benign |
Het |
| Pdss1 |
A |
G |
2: 22,805,425 (GRCm39) |
|
probably null |
Het |
| Ppargc1b |
T |
A |
18: 61,444,512 (GRCm39) |
H233L |
probably damaging |
Het |
| Ppm1b |
A |
G |
17: 85,320,987 (GRCm39) |
|
probably null |
Het |
| Prdm14 |
A |
T |
1: 13,195,949 (GRCm39) |
S37R |
possibly damaging |
Het |
| Prss45 |
A |
G |
9: 110,667,497 (GRCm39) |
T39A |
probably benign |
Het |
| Qars1 |
T |
C |
9: 108,392,161 (GRCm39) |
|
probably benign |
Het |
| Rxfp2 |
T |
G |
5: 149,961,712 (GRCm39) |
H77Q |
probably benign |
Het |
| Scd4 |
A |
G |
19: 44,329,685 (GRCm39) |
M219V |
probably benign |
Het |
| Sec24b |
G |
T |
3: 129,834,985 (GRCm39) |
P71Q |
probably benign |
Het |
| Snd1 |
T |
G |
6: 28,886,576 (GRCm39) |
V861G |
probably benign |
Het |
| Sspo |
A |
G |
6: 48,441,876 (GRCm39) |
|
probably null |
Het |
| Tas2r129 |
A |
G |
6: 132,928,497 (GRCm39) |
T145A |
probably benign |
Het |
| Tbc1d31 |
T |
A |
15: 57,833,120 (GRCm39) |
I953N |
possibly damaging |
Het |
| Tlr4 |
A |
G |
4: 66,757,732 (GRCm39) |
N175S |
probably benign |
Het |
| Tspyl4 |
A |
G |
10: 34,174,518 (GRCm39) |
N337D |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,642,545 (GRCm39) |
L13330H |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,089,756 (GRCm39) |
Y765* |
probably null |
Het |
| Vmn2r59 |
T |
A |
7: 41,696,529 (GRCm39) |
Y71F |
probably benign |
Het |
| Zbed6 |
A |
G |
1: 133,585,576 (GRCm39) |
F587S |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,467,161 (GRCm39) |
S2465P |
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 |
|
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 |
|
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'- TGGCGGGTCATTGATTCATTGACAC -3'
(R):5'- CATGGCTGAAGGTCCATGAACTCAC -3'
Sequencing Primer
(F):5'- GGTCATTGATTCATTGACACAGAGC -3'
(R):5'- GTCCATGAACTCACCAGGATTTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation