Incidental Mutation 'IGL02095:Gucy2e'
| ID |
279585 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gucy2e
|
| Ensembl Gene |
ENSMUSG00000020890 |
| Gene Name |
guanylate cyclase 2e |
| Synonyms |
GC1, ROS-GC1, GC-E |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
IGL02095
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
69108943-69127862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69123613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 429
(S429P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021259]
[ENSMUST00000108664]
[ENSMUST00000108665]
|
| AlphaFold |
P52785 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021259
AA Change: S429P
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000021259
Gene: ENSMUSG00000020890
AA Change: S429P
| 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 |
possibly damaging
Transcript: ENSMUST00000108664
AA Change: S429P
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104304
Gene: ENSMUSG00000020890
AA Change: S429P
| 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 |
possibly damaging
Transcript: ENSMUST00000108665
AA Change: S429P
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104305
Gene: ENSMUSG00000020890
AA Change: S429P
| 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 |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,583 (GRCm39) |
Q794L |
probably benign |
Het |
| Acrbp |
C |
A |
6: 125,030,919 (GRCm39) |
Y313* |
probably null |
Het |
| Adam9 |
A |
G |
8: 25,486,745 (GRCm39) |
S178P |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,727,909 (GRCm39) |
I244V |
possibly damaging |
Het |
| Atad5 |
A |
G |
11: 79,985,533 (GRCm39) |
S207G |
probably benign |
Het |
| Atp10a |
A |
G |
7: 58,457,141 (GRCm39) |
D880G |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,427,309 (GRCm39) |
I573T |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,653,845 (GRCm39) |
D494G |
probably damaging |
Het |
| Cbfa2t3 |
T |
C |
8: 123,360,232 (GRCm39) |
E438G |
probably damaging |
Het |
| Cisd2 |
T |
C |
3: 135,116,980 (GRCm39) |
D37G |
possibly damaging |
Het |
| Cndp2 |
T |
C |
18: 84,699,157 (GRCm39) |
E36G |
possibly damaging |
Het |
| Ddx54 |
G |
A |
5: 120,761,856 (GRCm39) |
G544D |
possibly damaging |
Het |
| Dok2 |
G |
T |
14: 71,015,301 (GRCm39) |
G343W |
possibly damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,359,001 (GRCm39) |
N87D |
probably damaging |
Het |
| Ehf |
T |
C |
2: 103,097,336 (GRCm39) |
Y237C |
probably damaging |
Het |
| Exoc3 |
T |
C |
13: 74,328,655 (GRCm39) |
T569A |
probably damaging |
Het |
| Fam151a |
T |
C |
4: 106,605,072 (GRCm39) |
V478A |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,942,924 (GRCm39) |
H291L |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,330,167 (GRCm39) |
T186A |
unknown |
Het |
| Ggnbp2 |
T |
C |
11: 84,723,954 (GRCm39) |
Y660C |
probably damaging |
Het |
| Ggt5 |
G |
A |
10: 75,444,637 (GRCm39) |
M318I |
probably benign |
Het |
| Gprc5d |
A |
G |
6: 135,093,175 (GRCm39) |
I244T |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,920,892 (GRCm39) |
D1341G |
probably damaging |
Het |
| Kcnq4 |
T |
C |
4: 120,557,224 (GRCm39) |
|
probably benign |
Het |
| Krt40 |
T |
C |
11: 99,432,497 (GRCm39) |
D173G |
probably damaging |
Het |
| Lrrc27 |
C |
T |
7: 138,810,169 (GRCm39) |
T380I |
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,459,749 (GRCm39) |
N125S |
probably benign |
Het |
| Mtor |
C |
T |
4: 148,628,998 (GRCm39) |
R2217C |
probably damaging |
Het |
| Nfrkb |
C |
T |
9: 31,322,527 (GRCm39) |
R866W |
probably damaging |
Het |
| Or10s1 |
T |
A |
9: 39,985,967 (GRCm39) |
Y125* |
probably null |
Het |
| Or4d10b |
C |
A |
19: 12,036,913 (GRCm39) |
V68F |
probably benign |
Het |
| P2ry6 |
T |
A |
7: 100,588,071 (GRCm39) |
D96V |
probably damaging |
Het |
| Pcdh18 |
A |
T |
3: 49,710,605 (GRCm39) |
S237T |
probably benign |
Het |
| Pck2 |
G |
A |
14: 55,779,967 (GRCm39) |
R72Q |
probably benign |
Het |
| Pik3c2a |
C |
T |
7: 115,945,423 (GRCm39) |
R1461Q |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,504,678 (GRCm39) |
V1130A |
possibly damaging |
Het |
| Ppm1d |
T |
A |
11: 85,217,832 (GRCm39) |
D198E |
probably benign |
Het |
| Rasa1 |
T |
A |
13: 85,364,274 (GRCm39) |
E1022D |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,718,748 (GRCm39) |
Y507H |
probably damaging |
Het |
| Rbm26 |
A |
T |
14: 105,381,696 (GRCm39) |
I488K |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,774,645 (GRCm39) |
E1170D |
probably damaging |
Het |
| Sdk2 |
T |
G |
11: 113,725,656 (GRCm39) |
T1198P |
probably damaging |
Het |
| Sema3g |
C |
T |
14: 30,949,781 (GRCm39) |
T654I |
probably benign |
Het |
| Spag9 |
A |
T |
11: 93,999,408 (GRCm39) |
H1108L |
probably damaging |
Het |
| Trgc2 |
T |
A |
13: 19,491,580 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
T |
C |
4: 41,229,709 (GRCm39) |
N142S |
probably benign |
Het |
| Usp33 |
T |
C |
3: 152,087,431 (GRCm39) |
F699L |
possibly damaging |
Het |
| Ythdc2 |
A |
G |
18: 45,006,207 (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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation