Incidental Mutation 'R0469:Gucy2e'
| ID |
43158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2e
|
| Ensembl Gene |
ENSMUSG00000020890 |
| Gene Name |
guanylate cyclase 2e |
| Synonyms |
GC1, ROS-GC1, GC-E |
| MMRRC Submission |
038669-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.385)
|
| Stock # |
R0469 (G1)
|
| Quality Score |
221 |
|
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: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.3%
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,125,482 (GRCm39) |
I67T |
probably damaging |
Het |
| Acoxl |
G |
A |
2: 127,722,423 (GRCm39) |
|
probably null |
Het |
| Adam10 |
T |
A |
9: 70,655,530 (GRCm39) |
W333R |
probably damaging |
Het |
| Ahnak |
C |
T |
19: 8,995,596 (GRCm39) |
R5627* |
probably null |
Het |
| Alms1 |
A |
T |
6: 85,597,351 (GRCm39) |
R1195* |
probably null |
Het |
| Arih2 |
T |
A |
9: 108,482,291 (GRCm39) |
H490L |
possibly damaging |
Het |
| Arpc1b |
T |
A |
5: 145,064,525 (GRCm39) |
W361R |
probably damaging |
Het |
| B3gntl1 |
A |
T |
11: 121,563,851 (GRCm39) |
V3D |
probably benign |
Het |
| Baiap2l1 |
T |
C |
5: 144,212,701 (GRCm39) |
Y438C |
probably damaging |
Het |
| Bicc1 |
C |
A |
10: 70,915,045 (GRCm39) |
R73L |
probably benign |
Het |
| Ccdc110 |
T |
A |
8: 46,388,194 (GRCm39) |
N50K |
probably benign |
Het |
| Ccdc168 |
T |
A |
1: 44,100,257 (GRCm39) |
K280N |
possibly damaging |
Het |
| Cep76 |
A |
T |
18: 67,767,850 (GRCm39) |
N227K |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,957,746 (GRCm39) |
V26D |
probably damaging |
Het |
| Cpe |
T |
A |
8: 65,064,501 (GRCm39) |
I233F |
probably damaging |
Het |
| Cpsf2 |
T |
C |
12: 101,955,045 (GRCm39) |
V272A |
probably damaging |
Het |
| Defa34 |
A |
G |
8: 22,155,988 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,520,856 (GRCm39) |
R1892G |
probably damaging |
Het |
| Efr3b |
G |
T |
12: 4,032,058 (GRCm39) |
D183E |
probably benign |
Het |
| Epyc |
A |
G |
10: 97,485,625 (GRCm39) |
T22A |
probably benign |
Het |
| Fam83a |
C |
A |
15: 57,873,322 (GRCm39) |
Q384K |
probably benign |
Het |
| Fam83b |
G |
T |
9: 76,400,108 (GRCm39) |
L332I |
possibly damaging |
Het |
| Ggn |
C |
T |
7: 28,870,721 (GRCm39) |
P47S |
probably damaging |
Het |
| Gli3 |
T |
G |
13: 15,899,370 (GRCm39) |
L919R |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,751,997 (GRCm39) |
I3144V |
probably benign |
Het |
| Gpr108 |
T |
C |
17: 57,542,358 (GRCm39) |
D549G |
possibly damaging |
Het |
| Gpr39 |
C |
T |
1: 125,605,237 (GRCm39) |
T55M |
probably damaging |
Het |
| Grk4 |
A |
G |
5: 34,873,557 (GRCm39) |
T208A |
probably damaging |
Het |
| H2-Eb2 |
C |
T |
17: 34,553,218 (GRCm39) |
Q135* |
probably null |
Het |
| Hectd4 |
T |
A |
5: 121,419,959 (GRCm39) |
Y635N |
possibly damaging |
Het |
| Hectd4 |
G |
A |
5: 121,443,736 (GRCm39) |
E1319K |
possibly damaging |
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 |
| Hs3st2 |
T |
C |
7: 121,099,792 (GRCm39) |
S213P |
probably damaging |
Het |
| Ikbkb |
A |
T |
8: 23,161,651 (GRCm39) |
C412* |
probably null |
Het |
| Kctd21 |
T |
C |
7: 96,996,748 (GRCm39) |
F74L |
probably 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 |
| Lmtk3 |
T |
A |
7: 45,443,536 (GRCm39) |
L740M |
possibly damaging |
Het |
| Lrrc10 |
T |
A |
10: 116,881,695 (GRCm39) |
L123Q |
probably damaging |
Het |
| Map1a |
A |
T |
2: 121,136,255 (GRCm39) |
H2357L |
probably benign |
Het |
| Mcf2l |
A |
G |
8: 13,047,337 (GRCm39) |
D233G |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,738,619 (GRCm39) |
N3524S |
probably benign |
Het |
| Msto1 |
A |
G |
3: 88,818,848 (GRCm39) |
L269P |
probably benign |
Het |
| Naca |
C |
T |
10: 127,880,659 (GRCm39) |
A1897V |
probably benign |
Het |
| Or1j10 |
A |
T |
2: 36,267,474 (GRCm39) |
I229F |
probably benign |
Het |
| Or4a39 |
A |
T |
2: 89,237,135 (GRCm39) |
M96K |
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 |
| Pdzrn3 |
A |
T |
6: 101,128,014 (GRCm39) |
I884N |
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 |
| Pla2g4a |
T |
A |
1: 149,716,398 (GRCm39) |
M688L |
possibly damaging |
Het |
| Ppp1r3c |
A |
T |
19: 36,711,617 (GRCm39) |
F51Y |
possibly damaging |
Het |
| Psen2 |
T |
C |
1: 180,066,479 (GRCm39) |
T153A |
probably damaging |
Het |
| Rbmx |
C |
T |
X: 56,436,926 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
A |
G |
14: 33,684,376 (GRCm39) |
K1135R |
possibly damaging |
Het |
| Slco2b1 |
T |
A |
7: 99,310,743 (GRCm39) |
M603L |
probably benign |
Het |
| Sncaip |
A |
G |
18: 53,001,781 (GRCm39) |
T101A |
probably benign |
Het |
| Ssh1 |
A |
T |
5: 114,084,766 (GRCm39) |
D448E |
probably benign |
Het |
| Ssmem1 |
A |
T |
6: 30,519,547 (GRCm39) |
|
probably null |
Het |
| Stk11 |
T |
C |
10: 79,961,920 (GRCm39) |
V47A |
probably damaging |
Het |
| Sv2b |
T |
G |
7: 74,786,140 (GRCm39) |
M427L |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,317,600 (GRCm39) |
L498P |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,900,923 (GRCm39) |
|
probably null |
Het |
| Taf6l |
G |
T |
19: 8,755,885 (GRCm39) |
H254Q |
probably benign |
Het |
| Tas2r123 |
T |
C |
6: 132,824,295 (GRCm39) |
V64A |
probably benign |
Het |
| Tm9sf1 |
A |
T |
14: 55,878,886 (GRCm39) |
F169I |
possibly damaging |
Het |
| Tmpo |
A |
C |
10: 90,998,958 (GRCm39) |
I276M |
probably benign |
Het |
| Tnnc1 |
A |
G |
14: 30,933,365 (GRCm39) |
D149G |
probably damaging |
Het |
| Tpr |
AAGAGAGAGAGAGAG |
AAGAGAGAGAGAG |
1: 150,299,418 (GRCm39) |
|
probably null |
Het |
| Traf3ip3 |
T |
A |
1: 192,860,539 (GRCm39) |
|
probably null |
Het |
| Trim55 |
G |
T |
3: 19,725,256 (GRCm39) |
V258L |
possibly damaging |
Het |
| Trpm1 |
G |
A |
7: 63,873,506 (GRCm39) |
G587D |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,560,756 (GRCm39) |
V29215A |
probably damaging |
Het |
| Ube2u |
A |
G |
4: 100,343,870 (GRCm39) |
I90V |
probably benign |
Het |
| Upb1 |
T |
C |
10: 75,250,917 (GRCm39) |
|
probably null |
Het |
| Vmn2r57 |
A |
T |
7: 41,077,216 (GRCm39) |
S317T |
possibly damaging |
Het |
| Wdr73 |
G |
A |
7: 80,547,698 (GRCm39) |
Q107* |
probably null |
Het |
| Zfp628 |
A |
T |
7: 4,922,732 (GRCm39) |
Q318L |
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 |
|
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 |
Incidental Mutation