Incidental Mutation 'R3622:Gucy2e'
| ID |
268683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2e
|
| Ensembl Gene |
ENSMUSG00000020890 |
| Gene Name |
guanylate cyclase 2e |
| Synonyms |
GC1, ROS-GC1, GC-E |
| MMRRC Submission |
040677-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.385)
|
| Stock # |
R3622 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69108943-69127862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 69115877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 835
(E835V)
|
| 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: E835V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021259
Gene: ENSMUSG00000020890
AA Change: E835V
| 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: E835V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104304
Gene: ENSMUSG00000020890
AA Change: E835V
| 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: E835V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104305
Gene: ENSMUSG00000020890
AA Change: E835V
| 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
|
| Meta Mutation Damage Score |
0.4132 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (42/42) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,950,036 (GRCm39) |
Y503* |
probably null |
Het |
| Akap9 |
C |
A |
5: 4,026,235 (GRCm39) |
Q1297K |
possibly damaging |
Het |
| Dffb |
T |
C |
4: 154,049,976 (GRCm39) |
T296A |
probably damaging |
Het |
| Dpf1 |
G |
A |
7: 29,015,631 (GRCm39) |
|
probably null |
Het |
| Elp1 |
A |
T |
4: 56,759,925 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
T |
C |
5: 143,371,774 (GRCm39) |
S666P |
probably damaging |
Het |
| Hdac5 |
G |
A |
11: 102,086,644 (GRCm39) |
P120S |
probably benign |
Het |
| Htr1d |
T |
C |
4: 136,170,815 (GRCm39) |
I348T |
probably damaging |
Het |
| Hyal4 |
A |
T |
6: 24,765,737 (GRCm39) |
S364C |
probably damaging |
Het |
| Igkv1-133 |
A |
T |
6: 67,701,944 (GRCm39) |
Q16L |
probably benign |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Met |
A |
T |
6: 17,549,085 (GRCm39) |
D979V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,772,245 (GRCm39) |
T1702A |
probably damaging |
Het |
| Midn |
A |
G |
10: 79,986,144 (GRCm39) |
D78G |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,405,595 (GRCm39) |
|
probably benign |
Het |
| Oma1 |
T |
C |
4: 103,223,288 (GRCm39) |
I491T |
probably benign |
Het |
| Or1e30 |
A |
G |
11: 73,678,567 (GRCm39) |
T268A |
probably benign |
Het |
| Or5ak24 |
C |
T |
2: 85,260,837 (GRCm39) |
C112Y |
probably benign |
Het |
| Or5b107 |
T |
A |
19: 13,143,020 (GRCm39) |
M214K |
probably benign |
Het |
| Or8b48 |
A |
G |
9: 38,492,792 (GRCm39) |
Y73C |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,897,470 (GRCm39) |
L57P |
probably damaging |
Het |
| Phka2 |
T |
A |
X: 159,327,291 (GRCm39) |
Y334* |
probably null |
Het |
| Plin4 |
G |
T |
17: 56,411,112 (GRCm39) |
T973K |
possibly damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,515 (GRCm39) |
R143H |
possibly damaging |
Het |
| Rps18 |
G |
C |
17: 34,171,247 (GRCm39) |
|
probably null |
Het |
| Samd9l |
A |
T |
6: 3,374,032 (GRCm39) |
C1076* |
probably null |
Het |
| Scml4 |
T |
C |
10: 42,806,607 (GRCm39) |
|
probably benign |
Het |
| Slc16a10 |
A |
G |
10: 40,017,890 (GRCm39) |
V48A |
probably benign |
Het |
| Slc6a5 |
T |
C |
7: 49,567,371 (GRCm39) |
V275A |
probably benign |
Het |
| Smad9 |
C |
T |
3: 54,696,705 (GRCm39) |
R257W |
probably damaging |
Het |
| Snrpb |
C |
A |
2: 130,017,299 (GRCm39) |
R73L |
probably null |
Het |
| Srsf9 |
C |
T |
5: 115,468,571 (GRCm39) |
A69V |
probably damaging |
Het |
| Stfa2 |
A |
G |
16: 36,224,433 (GRCm39) |
Y90H |
probably damaging |
Het |
| Tgm6 |
T |
A |
2: 129,993,681 (GRCm39) |
V640E |
possibly damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,640,451 (GRCm39) |
R1414C |
probably damaging |
Het |
| Tyk2 |
A |
T |
9: 21,038,606 (GRCm39) |
C8S |
probably damaging |
Het |
| Upp2 |
G |
A |
2: 58,680,128 (GRCm39) |
R300Q |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,593,855 (GRCm39) |
|
probably benign |
Het |
| Veph1 |
C |
T |
3: 66,122,858 (GRCm39) |
V224I |
probably benign |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,437 (GRCm39) |
F132I |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,605,025 (GRCm39) |
S113G |
probably benign |
Het |
| Vps53 |
A |
C |
11: 76,008,609 (GRCm39) |
V237G |
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 |
|
|
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 |
|
R8284:Gucy2e
|
UTSW |
11 |
69,123,177 (GRCm39) |
missense |
probably benign |
|
|
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'- AGCCACAGATCTAGGAATGGTGAA -3'
(R):5'- CCAGCTTTCTTGTTGATGTCG -3'
Sequencing Primer
(F):5'- TGAACAGCGGGGGTTACC -3'
(R):5'- GGAGGAAGTCCAGCTCTATTCTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation