Incidental Mutation 'R8284:Gucy2e'
ID |
638390 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gucy2e
|
Ensembl Gene |
ENSMUSG00000020890 |
Gene Name |
guanylate cyclase 2e |
Synonyms |
GC1, ROS-GC1, GC-E |
MMRRC Submission |
067707-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.406)
|
Stock # |
R8284 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
69108943-69127862 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 69123177 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 471
(V471A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021259
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021259]
[ENSMUST00000108664]
[ENSMUST00000108665]
|
AlphaFold |
P52785 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021259
AA Change: V471A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000021259 Gene: ENSMUSG00000020890 AA Change: V471A
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
15 |
N/A |
INTRINSIC |
low complexity region
|
36 |
55 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
75 |
403 |
5.3e-37 |
PFAM |
transmembrane domain
|
468 |
490 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
557 |
807 |
1.1e-24 |
PFAM |
Pfam:Pkinase_Tyr
|
560 |
807 |
2e-29 |
PFAM |
CYCc
|
847 |
1050 |
7.78e-104 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108664
AA Change: V471A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000104304 Gene: ENSMUSG00000020890 AA Change: V471A
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
15 |
N/A |
INTRINSIC |
low complexity region
|
36 |
55 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
75 |
403 |
2.4e-40 |
PFAM |
transmembrane domain
|
468 |
490 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
560 |
807 |
9.5e-23 |
PFAM |
Pfam:Pkinase_Tyr
|
560 |
807 |
7.7e-29 |
PFAM |
CYCc
|
847 |
1050 |
7.78e-104 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108665
AA Change: V471A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000104305 Gene: ENSMUSG00000020890 AA Change: V471A
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
15 |
N/A |
INTRINSIC |
low complexity region
|
36 |
55 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
75 |
403 |
5.3e-37 |
PFAM |
transmembrane domain
|
468 |
490 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
557 |
807 |
1.1e-24 |
PFAM |
Pfam:Pkinase_Tyr
|
560 |
807 |
2e-29 |
PFAM |
CYCc
|
847 |
1050 |
7.78e-104 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (54/54) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq, Dec 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal retinal cone cell morphology, impaired cone and rod electrophysiology, and severe retinal cone cell degeneration. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts14 |
T |
C |
10: 61,034,438 (GRCm39) |
Y1147C |
possibly damaging |
Het |
Adgrf5 |
T |
A |
17: 43,766,161 (GRCm39) |
S1328T |
unknown |
Het |
Aff4 |
A |
G |
11: 53,295,379 (GRCm39) |
K860E |
probably damaging |
Het |
Aox1 |
A |
C |
1: 58,115,250 (GRCm39) |
H745P |
probably damaging |
Het |
Bpifc |
T |
C |
10: 85,836,413 (GRCm39) |
T31A |
probably benign |
Het |
C3 |
C |
A |
17: 57,530,938 (GRCm39) |
V388L |
probably benign |
Het |
Celsr3 |
G |
T |
9: 108,723,612 (GRCm39) |
M2874I |
probably damaging |
Het |
Cnga4 |
T |
A |
7: 105,057,239 (GRCm39) |
D550E |
probably benign |
Het |
Dhx8 |
A |
G |
11: 101,648,455 (GRCm39) |
T918A |
probably damaging |
Het |
Dnah14 |
A |
C |
1: 181,601,376 (GRCm39) |
E3670A |
probably benign |
Het |
Fbxo31 |
T |
C |
8: 122,287,181 (GRCm39) |
I131V |
probably benign |
Het |
Ftcd |
T |
C |
10: 76,413,893 (GRCm39) |
V99A |
probably benign |
Het |
H60b |
T |
A |
10: 22,162,971 (GRCm39) |
L182Q |
probably benign |
Het |
Hbp1 |
G |
A |
12: 31,987,625 (GRCm39) |
H188Y |
probably damaging |
Het |
Itga4 |
C |
T |
2: 79,151,783 (GRCm39) |
T862I |
probably benign |
Het |
Kcnmb4 |
T |
A |
10: 116,254,158 (GRCm39) |
K206N |
probably damaging |
Het |
Klra4 |
A |
G |
6: 130,042,243 (GRCm39) |
F8S |
possibly damaging |
Het |
Mrpl2 |
C |
A |
17: 46,958,435 (GRCm39) |
Y72* |
probably null |
Het |
Nars2 |
C |
A |
7: 96,600,845 (GRCm39) |
|
probably benign |
Het |
Nup214 |
T |
C |
2: 31,886,458 (GRCm39) |
S607P |
possibly damaging |
Het |
Oas1d |
C |
T |
5: 121,057,221 (GRCm39) |
R276* |
probably null |
Het |
Or12d13 |
C |
T |
17: 37,647,587 (GRCm39) |
V179I |
probably benign |
Het |
Or1l8 |
T |
A |
2: 36,818,018 (GRCm39) |
Y36F |
probably damaging |
Het |
Or2t1 |
T |
A |
14: 14,329,011 (GRCm38) |
L300Q |
possibly damaging |
Het |
Or2y1b |
A |
G |
11: 49,209,002 (GRCm39) |
T210A |
probably benign |
Het |
Pex13 |
A |
G |
11: 23,605,685 (GRCm39) |
S182P |
possibly damaging |
Het |
Piwil4 |
G |
T |
9: 14,638,774 (GRCm39) |
N297K |
probably benign |
Het |
Plxna4 |
T |
C |
6: 32,129,789 (GRCm39) |
T1845A |
probably benign |
Het |
Pml |
T |
C |
9: 58,136,643 (GRCm39) |
N579D |
probably benign |
Het |
Ppl |
A |
G |
16: 4,950,201 (GRCm39) |
S3P |
probably damaging |
Het |
Pramel16 |
G |
T |
4: 143,676,695 (GRCm39) |
D136E |
possibly damaging |
Het |
Prss54 |
G |
A |
8: 96,285,994 (GRCm39) |
Q360* |
probably null |
Het |
Ralgps2 |
A |
G |
1: 156,655,718 (GRCm39) |
I402T |
probably benign |
Het |
Rnf213 |
T |
A |
11: 119,318,909 (GRCm39) |
D1123E |
|
Het |
Sdha |
A |
T |
13: 74,479,416 (GRCm39) |
|
probably null |
Het |
Senp8 |
G |
A |
9: 59,644,814 (GRCm39) |
T114I |
|
Het |
Setx |
C |
T |
2: 29,035,348 (GRCm39) |
T611I |
possibly damaging |
Het |
Shc1 |
T |
G |
3: 89,329,215 (GRCm39) |
S20A |
possibly damaging |
Het |
Slc15a1 |
T |
C |
14: 121,727,275 (GRCm39) |
I98V |
probably benign |
Het |
Snrk |
A |
G |
9: 121,989,538 (GRCm39) |
E294G |
probably damaging |
Het |
Sox18 |
G |
A |
2: 181,312,751 (GRCm39) |
P127S |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,007,387 (GRCm39) |
T206A |
probably benign |
Het |
Tcfl5 |
A |
G |
2: 180,280,330 (GRCm39) |
S358P |
probably benign |
Het |
Tecta |
T |
A |
9: 42,289,325 (GRCm39) |
L413F |
possibly damaging |
Het |
Tlk1 |
T |
C |
2: 70,544,365 (GRCm39) |
T757A |
probably benign |
Het |
Tmem232 |
T |
A |
17: 65,709,990 (GRCm39) |
I433F |
probably damaging |
Het |
Top1mt |
T |
A |
15: 75,539,712 (GRCm39) |
K300* |
probably null |
Het |
Trbv20 |
C |
T |
6: 41,165,782 (GRCm39) |
A69V |
probably damaging |
Het |
Trim12a |
A |
T |
7: 103,955,282 (GRCm39) |
L147Q |
probably damaging |
Het |
Tuba8 |
G |
A |
6: 121,199,736 (GRCm39) |
S140N |
probably damaging |
Het |
Vcan |
A |
T |
13: 89,852,454 (GRCm39) |
N835K |
possibly damaging |
Het |
Xrcc1 |
G |
A |
7: 24,271,703 (GRCm39) |
R562H |
probably damaging |
Het |
Yipf7 |
C |
T |
5: 69,674,539 (GRCm39) |
G202D |
probably benign |
Het |
Ythdc1 |
T |
G |
5: 86,964,325 (GRCm39) |
S45A |
probably benign |
Het |
Zfp1002 |
T |
C |
2: 150,097,276 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Gucy2e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00916:Gucy2e
|
APN |
11 |
69,113,923 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01626:Gucy2e
|
APN |
11 |
69,123,681 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01756:Gucy2e
|
APN |
11 |
69,123,678 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02030:Gucy2e
|
APN |
11 |
69,114,642 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02095:Gucy2e
|
APN |
11 |
69,123,613 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02387:Gucy2e
|
APN |
11 |
69,126,942 (GRCm39) |
missense |
probably benign |
|
IGL02622:Gucy2e
|
APN |
11 |
69,115,857 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02660:Gucy2e
|
APN |
11 |
69,122,833 (GRCm39) |
missense |
probably benign |
0.18 |
IGL03181:Gucy2e
|
APN |
11 |
69,121,008 (GRCm39) |
splice site |
probably benign |
|
R0110:Gucy2e
|
UTSW |
11 |
69,126,402 (GRCm39) |
missense |
probably benign |
0.00 |
R0115:Gucy2e
|
UTSW |
11 |
69,127,458 (GRCm39) |
missense |
unknown |
|
R0450:Gucy2e
|
UTSW |
11 |
69,126,402 (GRCm39) |
missense |
probably benign |
0.00 |
R0469:Gucy2e
|
UTSW |
11 |
69,126,402 (GRCm39) |
missense |
probably benign |
0.00 |
R0497:Gucy2e
|
UTSW |
11 |
69,114,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R0510:Gucy2e
|
UTSW |
11 |
69,126,402 (GRCm39) |
missense |
probably benign |
0.00 |
R1252:Gucy2e
|
UTSW |
11 |
69,126,485 (GRCm39) |
missense |
probably benign |
|
R1535:Gucy2e
|
UTSW |
11 |
69,117,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R1700:Gucy2e
|
UTSW |
11 |
69,122,884 (GRCm39) |
missense |
probably benign |
|
R2035:Gucy2e
|
UTSW |
11 |
69,118,358 (GRCm39) |
missense |
probably benign |
0.12 |
R2179:Gucy2e
|
UTSW |
11 |
69,119,404 (GRCm39) |
splice site |
probably null |
|
R3622:Gucy2e
|
UTSW |
11 |
69,115,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R4212:Gucy2e
|
UTSW |
11 |
69,118,949 (GRCm39) |
missense |
probably damaging |
0.99 |
R4600:Gucy2e
|
UTSW |
11 |
69,126,994 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4790:Gucy2e
|
UTSW |
11 |
69,119,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R5170:Gucy2e
|
UTSW |
11 |
69,126,396 (GRCm39) |
missense |
probably damaging |
0.97 |
R5174:Gucy2e
|
UTSW |
11 |
69,127,392 (GRCm39) |
missense |
probably benign |
|
R5440:Gucy2e
|
UTSW |
11 |
69,114,472 (GRCm39) |
missense |
probably damaging |
0.98 |
R5586:Gucy2e
|
UTSW |
11 |
69,117,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R5668:Gucy2e
|
UTSW |
11 |
69,119,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R5820:Gucy2e
|
UTSW |
11 |
69,123,522 (GRCm39) |
missense |
probably benign |
0.36 |
R5826:Gucy2e
|
UTSW |
11 |
69,126,859 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6169:Gucy2e
|
UTSW |
11 |
69,126,930 (GRCm39) |
missense |
probably benign |
0.19 |
R6544:Gucy2e
|
UTSW |
11 |
69,126,483 (GRCm39) |
missense |
probably benign |
|
R6815:Gucy2e
|
UTSW |
11 |
69,122,827 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7020:Gucy2e
|
UTSW |
11 |
69,123,619 (GRCm39) |
missense |
probably benign |
0.00 |
R7592:Gucy2e
|
UTSW |
11 |
69,114,150 (GRCm39) |
critical splice donor site |
probably null |
|
R7658:Gucy2e
|
UTSW |
11 |
69,117,055 (GRCm39) |
nonsense |
probably null |
|
R7812:Gucy2e
|
UTSW |
11 |
69,117,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R8479:Gucy2e
|
UTSW |
11 |
69,123,789 (GRCm39) |
missense |
probably benign |
0.22 |
R8537:Gucy2e
|
UTSW |
11 |
69,127,179 (GRCm39) |
missense |
probably benign |
0.01 |
R8806:Gucy2e
|
UTSW |
11 |
69,126,942 (GRCm39) |
missense |
probably benign |
|
R9030:Gucy2e
|
UTSW |
11 |
69,115,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R9192:Gucy2e
|
UTSW |
11 |
69,127,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R9217:Gucy2e
|
UTSW |
11 |
69,126,778 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9304:Gucy2e
|
UTSW |
11 |
69,126,560 (GRCm39) |
missense |
probably benign |
0.20 |
R9566:Gucy2e
|
UTSW |
11 |
69,118,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R9784:Gucy2e
|
UTSW |
11 |
69,123,516 (GRCm39) |
missense |
probably benign |
|
X0025:Gucy2e
|
UTSW |
11 |
69,117,070 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1186:Gucy2e
|
UTSW |
11 |
69,127,429 (GRCm39) |
missense |
unknown |
|
Z1186:Gucy2e
|
UTSW |
11 |
69,114,431 (GRCm39) |
missense |
probably benign |
0.00 |
Z1187:Gucy2e
|
UTSW |
11 |
69,127,429 (GRCm39) |
missense |
unknown |
|
Z1187:Gucy2e
|
UTSW |
11 |
69,114,431 (GRCm39) |
missense |
probably benign |
0.00 |
Z1188:Gucy2e
|
UTSW |
11 |
69,127,429 (GRCm39) |
missense |
unknown |
|
Z1188:Gucy2e
|
UTSW |
11 |
69,114,431 (GRCm39) |
missense |
probably benign |
0.00 |
Z1189:Gucy2e
|
UTSW |
11 |
69,127,429 (GRCm39) |
missense |
unknown |
|
Z1189:Gucy2e
|
UTSW |
11 |
69,114,431 (GRCm39) |
missense |
probably benign |
0.00 |
Z1190:Gucy2e
|
UTSW |
11 |
69,127,429 (GRCm39) |
missense |
unknown |
|
Z1190:Gucy2e
|
UTSW |
11 |
69,114,431 (GRCm39) |
missense |
probably benign |
0.00 |
Z1191:Gucy2e
|
UTSW |
11 |
69,127,429 (GRCm39) |
missense |
unknown |
|
Z1191:Gucy2e
|
UTSW |
11 |
69,114,431 (GRCm39) |
missense |
probably benign |
0.00 |
Z1192:Gucy2e
|
UTSW |
11 |
69,127,429 (GRCm39) |
missense |
unknown |
|
Z1192:Gucy2e
|
UTSW |
11 |
69,114,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTCAGGGAAGTTTGCTGG -3'
(R):5'- TCTCAAAGATTTCCAAGGCCC -3'
Sequencing Primer
(F):5'- AAGTTTGCTGGAGTATAGCTATCCCC -3'
(R):5'- CTGTTTGAACACCCCTAC -3'
|
Posted On |
2020-07-28 |