Incidental Mutation 'R8806:Gucy2e'
| ID |
672082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2e
|
| Ensembl Gene |
ENSMUSG00000020890 |
| Gene Name |
guanylate cyclase 2e |
| Synonyms |
GC1, ROS-GC1, GC-E |
| MMRRC Submission |
068612-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
R8806 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69108943-69127862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69126942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 177
(V177A)
|
| 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: V177A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021259
Gene: ENSMUSG00000020890
AA Change: V177A
| 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: V177A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104304
Gene: ENSMUSG00000020890
AA Change: V177A
| 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: V177A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104305
Gene: ENSMUSG00000020890
AA Change: V177A
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158813
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
| Validation Efficiency |
100% (66/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,084,520 (GRCm39) |
M586V |
probably benign |
Het |
| Adam6b |
G |
A |
12: 113,455,418 (GRCm39) |
R745H |
possibly damaging |
Het |
| Afg3l1 |
A |
G |
8: 124,220,657 (GRCm39) |
D462G |
probably damaging |
Het |
| Anapc1 |
T |
A |
2: 128,464,333 (GRCm39) |
Q1721L |
possibly damaging |
Het |
| Arhgap11a |
T |
C |
2: 113,665,107 (GRCm39) |
Y497C |
possibly damaging |
Het |
| Bcl7b |
T |
G |
5: 135,208,824 (GRCm39) |
S96A |
possibly damaging |
Het |
| Birc6 |
T |
C |
17: 74,949,311 (GRCm39) |
V3111A |
probably damaging |
Het |
| Cbx1 |
A |
G |
11: 96,692,383 (GRCm39) |
D90G |
possibly damaging |
Het |
| Cdkl3 |
T |
C |
11: 51,923,295 (GRCm39) |
F524S |
possibly damaging |
Het |
| Cops7b |
G |
A |
1: 86,517,031 (GRCm39) |
G44R |
probably damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,083,618 (GRCm39) |
S1028G |
probably benign |
Het |
| Decr1 |
T |
A |
4: 15,945,351 (GRCm39) |
M1L |
probably benign |
Het |
| Dmtn |
T |
C |
14: 70,852,388 (GRCm39) |
I167V |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,750,309 (GRCm39) |
L3932P |
probably damaging |
Het |
| Ece1 |
T |
A |
4: 137,672,452 (GRCm39) |
I365N |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,928,695 (GRCm39) |
M4815K |
probably benign |
Het |
| Exo5 |
T |
C |
4: 120,779,602 (GRCm39) |
T88A |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,390,064 (GRCm39) |
Y1772H |
probably benign |
Het |
| Gm5160 |
A |
G |
18: 14,557,931 (GRCm39) |
N3D |
possibly damaging |
Het |
| Gm7138 |
T |
A |
10: 77,612,717 (GRCm39) |
D21V |
unknown |
Het |
| Gm7298 |
C |
A |
6: 121,761,641 (GRCm39) |
|
silent |
Het |
| Islr |
C |
A |
9: 58,064,256 (GRCm39) |
G417V |
unknown |
Het |
| Kif13a |
A |
T |
13: 46,914,813 (GRCm39) |
M1458K |
possibly damaging |
Het |
| Mcm7 |
T |
C |
5: 138,163,347 (GRCm39) |
D642G |
possibly damaging |
Het |
| Med24 |
A |
T |
11: 98,595,970 (GRCm39) |
I941N |
probably damaging |
Het |
| Mrgprb8 |
C |
T |
7: 48,038,976 (GRCm39) |
P216S |
possibly damaging |
Het |
| Myo5c |
T |
A |
9: 75,150,054 (GRCm39) |
V13D |
probably damaging |
Het |
| N4bp2 |
T |
A |
5: 65,965,551 (GRCm39) |
I1200K |
possibly damaging |
Het |
| Naip6 |
G |
A |
13: 100,437,161 (GRCm39) |
T454M |
possibly damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,295,213 (GRCm39) |
Y877C |
probably damaging |
Het |
| Nolc1 |
C |
A |
19: 46,071,471 (GRCm39) |
S473R |
unknown |
Het |
| Nop16 |
A |
C |
13: 54,737,672 (GRCm39) |
|
probably benign |
Het |
| Nr3c2 |
T |
C |
8: 77,969,092 (GRCm39) |
I959T |
probably damaging |
Het |
| Nup88 |
T |
G |
11: 70,834,941 (GRCm39) |
K692N |
probably benign |
Het |
| Nvl |
C |
A |
1: 180,922,619 (GRCm39) |
G818V |
probably benign |
Het |
| Or1i2 |
G |
T |
10: 78,447,974 (GRCm39) |
T167N |
probably benign |
Het |
| Or4k6 |
T |
A |
14: 50,475,376 (GRCm39) |
E322V |
probably benign |
Het |
| Or4n4 |
A |
G |
14: 50,519,236 (GRCm39) |
I158T |
probably benign |
Het |
| Or4s2b |
T |
C |
2: 88,508,955 (GRCm39) |
V245A |
probably benign |
Het |
| Or8b49 |
A |
T |
9: 38,506,405 (GRCm39) |
D296V |
probably damaging |
Het |
| Or8k1 |
T |
C |
2: 86,047,200 (GRCm39) |
I285V |
probably damaging |
Het |
| Plxnc1 |
G |
A |
10: 94,635,140 (GRCm39) |
S1362L |
probably damaging |
Het |
| Ppfia2 |
C |
T |
10: 106,694,114 (GRCm39) |
A696V |
probably damaging |
Het |
| Prl |
A |
G |
13: 27,243,515 (GRCm39) |
Y62C |
probably damaging |
Het |
| Rnf135 |
A |
G |
11: 80,089,762 (GRCm39) |
D366G |
probably damaging |
Het |
| Rrp8 |
A |
G |
7: 105,384,244 (GRCm39) |
L86P |
probably damaging |
Het |
| Rsph4a |
T |
C |
10: 33,785,445 (GRCm39) |
V452A |
probably damaging |
Het |
| Runx2 |
C |
A |
17: 44,950,570 (GRCm39) |
V410L |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,376,665 (GRCm39) |
T199A |
probably damaging |
Het |
| Sik3 |
T |
C |
9: 46,120,365 (GRCm39) |
S745P |
probably damaging |
Het |
| Slc35e1 |
T |
A |
8: 73,241,973 (GRCm39) |
S250C |
probably damaging |
Het |
| Snx31 |
A |
G |
15: 36,537,698 (GRCm39) |
F160S |
probably damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,261 (GRCm39) |
D198G |
probably benign |
Het |
| Stim2 |
T |
A |
5: 54,156,257 (GRCm39) |
V11E |
probably benign |
Het |
| Tektl1 |
A |
G |
10: 78,588,306 (GRCm39) |
V168A |
probably damaging |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Tox4 |
T |
C |
14: 52,524,318 (GRCm39) |
S151P |
probably damaging |
Het |
| Trim34b |
A |
T |
7: 103,985,319 (GRCm39) |
D318V |
probably damaging |
Het |
| Ubtd1 |
T |
C |
19: 42,022,195 (GRCm39) |
S156P |
probably damaging |
Het |
| Usp34 |
C |
A |
11: 23,434,143 (GRCm39) |
L3240M |
|
Het |
| Vmn1r56 |
T |
C |
7: 5,198,805 (GRCm39) |
S271G |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,472,212 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,853,110 (GRCm39) |
F2401S |
probably damaging |
Het |
| Zbtb11 |
G |
A |
16: 55,802,637 (GRCm39) |
V216I |
probably damaging |
Het |
| Zfp931 |
T |
C |
2: 177,709,589 (GRCm39) |
T266A |
possibly damaging |
Het |
| Zfp956 |
A |
G |
6: 47,933,042 (GRCm39) |
M106V |
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 |
|
|
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 |
|
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'- CTAACTCTAGGCCCATCTCGGATC -3'
(R):5'- GACTTTGCTTTAGACGGCGG -3'
Sequencing Primer
(F):5'- GCCCATCTCGGATCCTCCC -3'
(R):5'- TCACTAGGGGCTGTGTCCTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation