Incidental Mutation 'R5170:Gucy2e'
| ID |
397515 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2e
|
| Ensembl Gene |
ENSMUSG00000020890 |
| Gene Name |
guanylate cyclase 2e |
| Synonyms |
GC1, GC-E, ROS-GC1 |
| MMRRC Submission |
042750-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.335)
|
| Stock # |
R5170 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69218117-69237036 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69235570 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 328
(L328Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021259]
[ENSMUST00000108664]
[ENSMUST00000108665]
|
| AlphaFold |
P52785 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021259
AA Change: L328Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021259
Gene: ENSMUSG00000020890
AA Change: L328Q
| 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 damaging
Transcript: ENSMUST00000108664
AA Change: L328Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104304
Gene: ENSMUSG00000020890
AA Change: L328Q
| 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 damaging
Transcript: ENSMUST00000108665
AA Change: L328Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104305
Gene: ENSMUSG00000020890
AA Change: L328Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000155457
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,588,625 (GRCm38) |
I51V |
probably benign |
Het |
| Agbl2 |
A |
G |
2: 90,803,197 (GRCm38) |
K559R |
probably benign |
Het |
| Arhgap30 |
A |
G |
1: 171,408,050 (GRCm38) |
D664G |
probably benign |
Het |
| BC034090 |
A |
G |
1: 155,213,650 (GRCm38) |
V798A |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,030,794 (GRCm38) |
C2237* |
probably null |
Het |
| C3 |
C |
T |
17: 57,223,938 (GRCm38) |
V388M |
probably damaging |
Het |
| Ccdc170 |
G |
A |
10: 4,514,200 (GRCm38) |
E60K |
probably damaging |
Het |
| Cdh8 |
G |
A |
8: 99,279,550 (GRCm38) |
T135M |
probably damaging |
Het |
| Cep131 |
G |
T |
11: 120,070,609 (GRCm38) |
A572E |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,741,791 (GRCm38) |
Y976C |
probably benign |
Het |
| Dmpk |
C |
G |
7: 19,088,019 (GRCm38) |
L301V |
probably benign |
Het |
| Eno3 |
A |
G |
11: 70,662,214 (GRCm38) |
I393V |
probably benign |
Het |
| Fbxo47 |
A |
G |
11: 97,857,694 (GRCm38) |
V305A |
probably benign |
Het |
| Fry |
G |
A |
5: 150,429,854 (GRCm38) |
V1779M |
probably benign |
Het |
| Gm15293 |
A |
T |
8: 21,201,680 (GRCm38) |
D26V |
probably damaging |
Het |
| Gtse1 |
T |
C |
15: 85,864,264 (GRCm38) |
|
probably null |
Het |
| Ifi207 |
T |
C |
1: 173,730,498 (GRCm38) |
T225A |
unknown |
Het |
| Igkv4-80 |
A |
C |
6: 69,016,665 (GRCm38) |
S81A |
probably benign |
Het |
| Lamc3 |
A |
T |
2: 31,887,344 (GRCm38) |
M1L |
probably benign |
Het |
| Lman1l |
G |
A |
9: 57,615,619 (GRCm38) |
R153* |
probably null |
Het |
| Myo16 |
A |
G |
8: 10,569,745 (GRCm38) |
D1432G |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,806,037 (GRCm38) |
N988I |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,997,037 (GRCm38) |
A91S |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,857,279 (GRCm38) |
E773G |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,714,862 (GRCm38) |
M146K |
probably damaging |
Het |
| Ptx4 |
G |
A |
17: 25,123,178 (GRCm38) |
R209Q |
probably benign |
Het |
| Slc13a2 |
T |
C |
11: 78,400,808 (GRCm38) |
T340A |
probably damaging |
Het |
| St8sia1 |
T |
C |
6: 142,963,708 (GRCm38) |
K21E |
probably damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,794,674 (GRCm38) |
D581G |
probably benign |
Het |
| Sumo2 |
G |
A |
11: 115,534,660 (GRCm38) |
|
probably benign |
Het |
| Supt5 |
G |
A |
7: 28,316,083 (GRCm38) |
P910S |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,306,838 (GRCm38) |
Q158R |
possibly damaging |
Het |
| Tenm2 |
T |
A |
11: 36,024,806 (GRCm38) |
H1968L |
probably damaging |
Het |
| Trmt1 |
T |
C |
8: 84,695,232 (GRCm38) |
Y220H |
probably damaging |
Het |
| Trp73 |
C |
T |
4: 154,104,838 (GRCm38) |
E60K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,787,069 (GRCm38) |
Y8026H |
probably damaging |
Het |
| Zar1l |
A |
G |
5: 150,517,585 (GRCm38) |
|
probably null |
Het |
| Zfp740 |
T |
C |
15: 102,209,205 (GRCm38) |
Y117H |
probably damaging |
Het |
| Zfp941 |
G |
A |
7: 140,812,957 (GRCm38) |
|
probably benign |
Het |
| Zp1 |
C |
A |
19: 10,920,554 (GRCm38) |
V8F |
possibly damaging |
Het |
|
| Other mutations in Gucy2e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00916:Gucy2e
|
APN |
11 |
69,223,097 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL01626:Gucy2e
|
APN |
11 |
69,232,855 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL01756:Gucy2e
|
APN |
11 |
69,232,852 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02030:Gucy2e
|
APN |
11 |
69,223,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02095:Gucy2e
|
APN |
11 |
69,232,787 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL02387:Gucy2e
|
APN |
11 |
69,236,116 (GRCm38) |
missense |
probably benign |
|
|
IGL02622:Gucy2e
|
APN |
11 |
69,225,031 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02660:Gucy2e
|
APN |
11 |
69,232,007 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL03181:Gucy2e
|
APN |
11 |
69,230,182 (GRCm38) |
splice site |
probably benign |
|
|
R0110:Gucy2e
|
UTSW |
11 |
69,235,576 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0115:Gucy2e
|
UTSW |
11 |
69,236,632 (GRCm38) |
missense |
unknown |
|
|
R0450:Gucy2e
|
UTSW |
11 |
69,235,576 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0469:Gucy2e
|
UTSW |
11 |
69,235,576 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0497:Gucy2e
|
UTSW |
11 |
69,224,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0510:Gucy2e
|
UTSW |
11 |
69,235,576 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1252:Gucy2e
|
UTSW |
11 |
69,235,659 (GRCm38) |
missense |
probably benign |
|
|
R1535:Gucy2e
|
UTSW |
11 |
69,226,244 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1700:Gucy2e
|
UTSW |
11 |
69,232,058 (GRCm38) |
missense |
probably benign |
|
|
R2035:Gucy2e
|
UTSW |
11 |
69,227,532 (GRCm38) |
missense |
probably benign |
0.12 |
|
R2179:Gucy2e
|
UTSW |
11 |
69,228,578 (GRCm38) |
splice site |
probably null |
|
|
R3622:Gucy2e
|
UTSW |
11 |
69,225,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4212:Gucy2e
|
UTSW |
11 |
69,228,123 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4600:Gucy2e
|
UTSW |
11 |
69,236,168 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R4790:Gucy2e
|
UTSW |
11 |
69,228,448 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5174:Gucy2e
|
UTSW |
11 |
69,236,566 (GRCm38) |
missense |
probably benign |
|
|
R5440:Gucy2e
|
UTSW |
11 |
69,223,646 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5586:Gucy2e
|
UTSW |
11 |
69,226,256 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5668:Gucy2e
|
UTSW |
11 |
69,228,381 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5820:Gucy2e
|
UTSW |
11 |
69,232,696 (GRCm38) |
missense |
probably benign |
0.36 |
|
R5826:Gucy2e
|
UTSW |
11 |
69,236,033 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6169:Gucy2e
|
UTSW |
11 |
69,236,104 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6544:Gucy2e
|
UTSW |
11 |
69,235,657 (GRCm38) |
missense |
probably benign |
|
|
R6815:Gucy2e
|
UTSW |
11 |
69,232,001 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7020:Gucy2e
|
UTSW |
11 |
69,232,793 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7592:Gucy2e
|
UTSW |
11 |
69,223,324 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7658:Gucy2e
|
UTSW |
11 |
69,226,229 (GRCm38) |
nonsense |
probably null |
|
|
R7812:Gucy2e
|
UTSW |
11 |
69,226,243 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8284:Gucy2e
|
UTSW |
11 |
69,232,351 (GRCm38) |
missense |
probably benign |
|
|
R8479:Gucy2e
|
UTSW |
11 |
69,232,963 (GRCm38) |
missense |
probably benign |
0.22 |
|
R8537:Gucy2e
|
UTSW |
11 |
69,236,353 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8806:Gucy2e
|
UTSW |
11 |
69,236,116 (GRCm38) |
missense |
probably benign |
|
|
R9030:Gucy2e
|
UTSW |
11 |
69,225,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9192:Gucy2e
|
UTSW |
11 |
69,236,477 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9217:Gucy2e
|
UTSW |
11 |
69,235,952 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R9304:Gucy2e
|
UTSW |
11 |
69,235,734 (GRCm38) |
missense |
probably benign |
0.20 |
|
R9566:Gucy2e
|
UTSW |
11 |
69,228,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9784:Gucy2e
|
UTSW |
11 |
69,232,690 (GRCm38) |
missense |
probably benign |
|
|
X0025:Gucy2e
|
UTSW |
11 |
69,226,244 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1186:Gucy2e
|
UTSW |
11 |
69,236,603 (GRCm38) |
missense |
unknown |
|
|
Z1186:Gucy2e
|
UTSW |
11 |
69,223,605 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1187:Gucy2e
|
UTSW |
11 |
69,236,603 (GRCm38) |
missense |
unknown |
|
|
Z1187:Gucy2e
|
UTSW |
11 |
69,223,605 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1188:Gucy2e
|
UTSW |
11 |
69,236,603 (GRCm38) |
missense |
unknown |
|
|
Z1188:Gucy2e
|
UTSW |
11 |
69,223,605 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1189:Gucy2e
|
UTSW |
11 |
69,236,603 (GRCm38) |
missense |
unknown |
|
|
Z1189:Gucy2e
|
UTSW |
11 |
69,223,605 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1190:Gucy2e
|
UTSW |
11 |
69,236,603 (GRCm38) |
missense |
unknown |
|
|
Z1190:Gucy2e
|
UTSW |
11 |
69,223,605 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1191:Gucy2e
|
UTSW |
11 |
69,236,603 (GRCm38) |
missense |
unknown |
|
|
Z1191:Gucy2e
|
UTSW |
11 |
69,223,605 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1192:Gucy2e
|
UTSW |
11 |
69,236,603 (GRCm38) |
missense |
unknown |
|
|
Z1192:Gucy2e
|
UTSW |
11 |
69,223,605 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTTACGCCCCATTGACTC -3'
(R):5'- AAGAACTGGCTCTGACTGATGG -3'
Sequencing Primer
(F):5'- GCCCCATTGACTCCACCC -3'
(R):5'- TCTGACTGATGGCTCCCTGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation