Incidental Mutation 'R6815:Gucy2e'
ID |
537289 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gucy2e
|
Ensembl Gene |
ENSMUSG00000020890 |
Gene Name |
guanylate cyclase 2e |
Synonyms |
GC1, ROS-GC1, GC-E |
MMRRC Submission |
044927-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.406)
|
Stock # |
R6815 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
69108943-69127862 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 69122827 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 516
(L516R)
|
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: L516R
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000021259 Gene: ENSMUSG00000020890 AA Change: L516R
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: L516R
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104304 Gene: ENSMUSG00000020890 AA Change: L516R
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: L516R
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104305 Gene: ENSMUSG00000020890 AA Change: L516R
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
T |
G |
14: 54,828,610 (GRCm39) |
N297T |
probably damaging |
Het |
6820408C15Rik |
A |
G |
2: 152,282,975 (GRCm39) |
N251S |
probably benign |
Het |
Abcc5 |
T |
C |
16: 20,152,380 (GRCm39) |
T1389A |
probably damaging |
Het |
Acad11 |
A |
G |
9: 103,958,526 (GRCm39) |
T265A |
probably benign |
Het |
Ace3 |
C |
T |
11: 105,888,084 (GRCm39) |
Q302* |
probably null |
Het |
Aip |
A |
T |
19: 4,166,066 (GRCm39) |
H128Q |
probably benign |
Het |
Akr1b7 |
A |
T |
6: 34,389,269 (GRCm39) |
|
probably null |
Het |
Arid4a |
T |
A |
12: 71,063,856 (GRCm39) |
|
probably null |
Het |
Armh1 |
T |
A |
4: 117,087,134 (GRCm39) |
H177L |
probably damaging |
Het |
Aspm |
A |
G |
1: 139,407,880 (GRCm39) |
T2256A |
probably benign |
Het |
Bco1 |
A |
T |
8: 117,840,261 (GRCm39) |
M260L |
probably benign |
Het |
Ccdc110 |
A |
G |
8: 46,395,024 (GRCm39) |
N305S |
probably benign |
Het |
Ccdc158 |
T |
A |
5: 92,760,345 (GRCm39) |
Y1035F |
probably damaging |
Het |
Cd180 |
C |
T |
13: 102,841,937 (GRCm39) |
L328F |
probably damaging |
Het |
Cntrl |
T |
C |
2: 35,039,503 (GRCm39) |
L1121P |
probably damaging |
Het |
Cyp2u1 |
A |
C |
3: 131,091,659 (GRCm39) |
I287S |
probably damaging |
Het |
Dnah3 |
C |
T |
7: 119,570,950 (GRCm39) |
M2195I |
probably benign |
Het |
Dnajc21 |
C |
T |
15: 10,447,777 (GRCm39) |
|
probably null |
Het |
Dock10 |
C |
T |
1: 80,516,576 (GRCm39) |
V1398M |
possibly damaging |
Het |
Dpy19l3 |
T |
A |
7: 35,449,272 (GRCm39) |
I44F |
possibly damaging |
Het |
Dst |
C |
A |
1: 34,267,450 (GRCm39) |
T4964K |
possibly damaging |
Het |
Ercc4 |
T |
C |
16: 12,941,299 (GRCm39) |
I139T |
probably damaging |
Het |
Gpr4 |
T |
A |
7: 18,956,560 (GRCm39) |
F161I |
probably damaging |
Het |
Hdhd5 |
A |
G |
6: 120,498,170 (GRCm39) |
V143A |
probably benign |
Het |
Heatr4 |
T |
A |
12: 84,026,501 (GRCm39) |
Q252L |
probably damaging |
Het |
Heatr5a |
T |
G |
12: 52,002,291 (GRCm39) |
D215A |
possibly damaging |
Het |
Hipk2 |
G |
T |
6: 38,795,777 (GRCm39) |
A164D |
probably damaging |
Het |
Igsf11 |
A |
G |
16: 38,829,243 (GRCm39) |
I46V |
probably benign |
Het |
Iqgap1 |
C |
T |
7: 80,416,632 (GRCm39) |
|
probably null |
Het |
Lrig1 |
A |
G |
6: 94,602,010 (GRCm39) |
L281P |
probably damaging |
Het |
Or10p22 |
A |
G |
10: 128,826,191 (GRCm39) |
S137G |
probably benign |
Het |
Or7g32 |
G |
T |
9: 19,389,061 (GRCm39) |
H159N |
probably benign |
Het |
Pcdha7 |
A |
G |
18: 37,108,174 (GRCm39) |
T400A |
probably damaging |
Het |
Pde5a |
A |
G |
3: 122,618,573 (GRCm39) |
T629A |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,426,051 (GRCm39) |
D3204G |
probably damaging |
Het |
Prkd2 |
T |
C |
7: 16,577,718 (GRCm39) |
F57S |
probably benign |
Het |
Prr15l |
T |
C |
11: 96,825,433 (GRCm39) |
V21A |
probably damaging |
Het |
Rag2 |
T |
A |
2: 101,460,900 (GRCm39) |
N403K |
probably damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Rtl1 |
C |
A |
12: 109,560,937 (GRCm39) |
D301Y |
probably damaging |
Het |
Septin14 |
T |
C |
5: 129,770,051 (GRCm39) |
N215S |
probably benign |
Het |
Sin3a |
T |
A |
9: 57,024,824 (GRCm39) |
D1061E |
probably benign |
Het |
Skint5 |
T |
A |
4: 113,574,324 (GRCm39) |
|
probably null |
Het |
Stox2 |
A |
T |
8: 47,646,136 (GRCm39) |
D441E |
probably damaging |
Het |
Tmem52b |
G |
A |
6: 129,493,705 (GRCm39) |
|
probably null |
Het |
Tpm3-rs7 |
A |
G |
14: 113,552,292 (GRCm39) |
E62G |
probably benign |
Het |
Trim54 |
G |
T |
5: 31,291,424 (GRCm39) |
V182L |
probably damaging |
Het |
Trmt6 |
A |
C |
2: 132,651,778 (GRCm39) |
V214G |
probably damaging |
Het |
Ttc21b |
T |
C |
2: 66,057,134 (GRCm39) |
S613G |
probably benign |
Het |
Ttll4 |
C |
A |
1: 74,718,508 (GRCm39) |
R120S |
possibly damaging |
Het |
Wdr41 |
A |
T |
13: 95,154,682 (GRCm39) |
K354N |
probably damaging |
Het |
Zfp652 |
A |
T |
11: 95,640,230 (GRCm39) |
K52* |
probably null |
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 |
|
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 |
|
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'- ACATTCACTTTCTAATGGGACTTCC -3'
(R):5'- TCCAGCAAACTTCCCTGAGC -3'
Sequencing Primer
(F):5'- ATAGCTGAGGTCCCTGATTTCCAAG -3'
(R):5'- GCAAACTTCCCTGAGCTAATG -3'
|
Posted On |
2018-10-18 |