Incidental Mutation 'R0450:Gucy2e'
ID |
39623 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gucy2e
|
Ensembl Gene |
ENSMUSG00000020890 |
Gene Name |
guanylate cyclase 2e |
Synonyms |
GC1, ROS-GC1, GC-E |
MMRRC Submission |
038650-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.406)
|
Stock # |
R0450 (G1)
|
Quality Score |
114 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
69108943-69127862 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 69126402 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 326
(D326G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104305
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021259]
[ENSMUST00000108664]
[ENSMUST00000108665]
|
AlphaFold |
P52785 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021259
AA Change: D326G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000021259 Gene: ENSMUSG00000020890 AA Change: D326G
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: D326G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000104304 Gene: ENSMUSG00000020890 AA Change: D326G
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: D326G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000104305 Gene: ENSMUSG00000020890 AA Change: D326G
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 |
0.0767 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 94.2%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acoxl |
G |
A |
2: 127,722,423 (GRCm39) |
|
probably null |
Het |
AI606181 |
A |
C |
19: 41,582,170 (GRCm39) |
K113N |
unknown |
Het |
Ankrd11 |
T |
C |
8: 123,618,914 (GRCm39) |
D1646G |
possibly damaging |
Het |
Ap2m1 |
T |
A |
16: 20,360,990 (GRCm39) |
I334N |
possibly damaging |
Het |
Arih2 |
T |
A |
9: 108,482,291 (GRCm39) |
H490L |
possibly damaging |
Het |
Ccdc168 |
T |
A |
1: 44,100,257 (GRCm39) |
K280N |
possibly damaging |
Het |
Cdhr1 |
T |
C |
14: 36,802,633 (GRCm39) |
Y610C |
probably damaging |
Het |
Cdkal1 |
C |
A |
13: 29,875,579 (GRCm39) |
|
probably null |
Het |
Cep76 |
A |
T |
18: 67,767,850 (GRCm39) |
N227K |
probably benign |
Het |
Clca4b |
A |
T |
3: 144,619,112 (GRCm39) |
Y676N |
probably damaging |
Het |
Cog2 |
T |
C |
8: 125,255,797 (GRCm39) |
|
probably null |
Het |
Col6a4 |
A |
T |
9: 105,957,746 (GRCm39) |
V26D |
probably damaging |
Het |
Dcaf11 |
T |
C |
14: 55,806,537 (GRCm39) |
V446A |
probably damaging |
Het |
Dync1h1 |
C |
A |
12: 110,606,378 (GRCm39) |
Q2483K |
probably benign |
Het |
Enpp3 |
A |
T |
10: 24,652,679 (GRCm39) |
D759E |
probably damaging |
Het |
Etfbkmt |
C |
T |
6: 149,052,082 (GRCm39) |
R96W |
probably benign |
Het |
Fam83a |
C |
A |
15: 57,873,322 (GRCm39) |
Q384K |
probably benign |
Het |
Glipr1l2 |
A |
G |
10: 111,928,477 (GRCm39) |
D124G |
probably benign |
Het |
Hnrnph3 |
T |
A |
10: 62,853,994 (GRCm39) |
R41S |
probably benign |
Het |
Hnrnph3 |
T |
A |
10: 62,855,279 (GRCm39) |
D2V |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Itpr2 |
T |
C |
6: 146,319,477 (GRCm39) |
T188A |
possibly damaging |
Het |
Krt23 |
T |
A |
11: 99,377,608 (GRCm39) |
I133L |
probably damaging |
Het |
Krt74 |
T |
C |
15: 101,671,751 (GRCm39) |
|
noncoding transcript |
Het |
Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
Map1a |
A |
T |
2: 121,136,255 (GRCm39) |
H2357L |
probably benign |
Het |
Mbl1 |
A |
G |
14: 40,880,706 (GRCm39) |
N198S |
probably damaging |
Het |
Mcf2l |
A |
G |
8: 13,047,337 (GRCm39) |
D233G |
probably damaging |
Het |
Mdga2 |
T |
C |
12: 66,517,700 (GRCm39) |
K45E |
possibly damaging |
Het |
Mdn1 |
A |
G |
4: 32,738,619 (GRCm39) |
N3524S |
probably benign |
Het |
Mospd3 |
A |
G |
5: 137,595,294 (GRCm39) |
L233P |
probably damaging |
Het |
Msto1 |
A |
G |
3: 88,818,848 (GRCm39) |
L269P |
probably benign |
Het |
Or4a39 |
A |
T |
2: 89,237,135 (GRCm39) |
M96K |
probably damaging |
Het |
Or5p5 |
T |
C |
7: 107,413,895 (GRCm39) |
Y35H |
probably damaging |
Het |
Or5w15 |
A |
G |
2: 87,567,825 (GRCm39) |
V281A |
probably damaging |
Het |
Or8b12i |
T |
C |
9: 20,082,561 (GRCm39) |
Y102C |
probably benign |
Het |
Or8g27 |
G |
A |
9: 39,129,024 (GRCm39) |
V124I |
possibly damaging |
Het |
Parp2 |
T |
A |
14: 51,057,130 (GRCm39) |
Y361N |
probably damaging |
Het |
Pcf11 |
G |
A |
7: 92,307,039 (GRCm39) |
P1043L |
probably damaging |
Het |
Phf24 |
G |
T |
4: 42,933,761 (GRCm39) |
V48L |
possibly damaging |
Het |
Pkn1 |
C |
A |
8: 84,398,953 (GRCm39) |
C678F |
probably damaging |
Het |
Plcl2 |
T |
C |
17: 50,915,010 (GRCm39) |
L673P |
probably damaging |
Het |
Ppp1r3c |
A |
T |
19: 36,711,617 (GRCm39) |
F51Y |
possibly damaging |
Het |
Rem2 |
T |
C |
14: 54,713,754 (GRCm39) |
|
probably benign |
Het |
Smpdl3b |
A |
G |
4: 132,472,449 (GRCm39) |
V108A |
probably damaging |
Het |
Sncaip |
A |
G |
18: 53,001,781 (GRCm39) |
T101A |
probably benign |
Het |
Stk11 |
T |
C |
10: 79,961,920 (GRCm39) |
V47A |
probably damaging |
Het |
Tmpo |
A |
C |
10: 90,998,958 (GRCm39) |
I276M |
probably benign |
Het |
Trim55 |
G |
T |
3: 19,725,256 (GRCm39) |
V258L |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,560,756 (GRCm39) |
V29215A |
probably damaging |
Het |
Ubr4 |
T |
G |
4: 139,157,534 (GRCm39) |
S2364A |
probably benign |
Het |
Unc79 |
T |
A |
12: 103,045,329 (GRCm39) |
|
probably null |
Het |
Upb1 |
T |
C |
10: 75,250,917 (GRCm39) |
|
probably null |
Het |
Usp47 |
T |
C |
7: 111,655,787 (GRCm39) |
S155P |
possibly damaging |
Het |
Zfp628 |
A |
T |
7: 4,922,732 (GRCm39) |
Q318L |
probably benign |
Het |
Zfp729b |
A |
T |
13: 67,739,253 (GRCm39) |
V1004E |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTACAGTTTACGCCCCATTGACTC -3'
(R):5'- AGAACTGGCTCTGACTGATGGCTC -3'
Sequencing Primer
(F):5'- tccaccctctccttgcc -3'
(R):5'- TGACTGATGGCTCCCTGG -3'
|
Posted On |
2013-05-23 |