Incidental Mutation 'R1700:Gucy2e'
| ID |
189674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2e
|
| Ensembl Gene |
ENSMUSG00000020890 |
| Gene Name |
guanylate cyclase 2e |
| Synonyms |
GC1, ROS-GC1, GC-E |
| MMRRC Submission |
039733-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
R1700 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69108943-69127862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69122884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 497
(M497K)
|
| 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: M497K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021259
Gene: ENSMUSG00000020890
AA Change: M497K
| 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: M497K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104304
Gene: ENSMUSG00000020890
AA Change: M497K
| 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: M497K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104305
Gene: ENSMUSG00000020890
AA Change: M497K
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,899,537 (GRCm39) |
F936L |
probably benign |
Het |
| Adamts12 |
T |
A |
15: 11,152,143 (GRCm39) |
I211N |
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Alas1 |
C |
T |
9: 106,116,845 (GRCm39) |
V293I |
possibly damaging |
Het |
| Ap1g1 |
T |
C |
8: 110,580,244 (GRCm39) |
Y569H |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,148,603 (GRCm39) |
D1190G |
probably damaging |
Het |
| Astn2 |
G |
A |
4: 65,664,591 (GRCm39) |
Q679* |
probably null |
Het |
| Atp2a1 |
T |
A |
7: 126,062,081 (GRCm39) |
H5L |
probably damaging |
Het |
| Baiap3 |
T |
C |
17: 25,468,302 (GRCm39) |
K279E |
probably damaging |
Het |
| C2cd2l |
G |
A |
9: 44,227,909 (GRCm39) |
P111S |
probably benign |
Het |
| C7 |
T |
A |
15: 5,032,274 (GRCm39) |
K646* |
probably null |
Het |
| Ccp110 |
C |
T |
7: 118,334,536 (GRCm39) |
T1003I |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 165,012,716 (GRCm39) |
D123G |
probably damaging |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,768,433 (GRCm39) |
V722A |
probably benign |
Het |
| Cpsf4l |
A |
G |
11: 113,592,901 (GRCm39) |
F174S |
probably benign |
Het |
| Ctnna3 |
T |
C |
10: 63,688,551 (GRCm39) |
C332R |
probably damaging |
Het |
| Cxcl10 |
A |
T |
5: 92,495,714 (GRCm39) |
N76K |
probably damaging |
Het |
| Dnaaf9 |
G |
A |
2: 130,551,858 (GRCm39) |
L1010F |
probably damaging |
Het |
| Dnaja3 |
G |
A |
16: 4,502,029 (GRCm39) |
R11K |
probably null |
Het |
| Efcab10 |
A |
G |
12: 33,445,170 (GRCm39) |
T28A |
possibly damaging |
Het |
| Esrrg |
A |
G |
1: 187,775,850 (GRCm39) |
R103G |
probably damaging |
Het |
| Exosc2 |
A |
G |
2: 31,560,818 (GRCm39) |
K23E |
probably benign |
Het |
| Flot2 |
C |
T |
11: 77,940,373 (GRCm39) |
S40L |
possibly damaging |
Het |
| Fsip2 |
T |
C |
2: 82,822,081 (GRCm39) |
V5938A |
probably benign |
Het |
| Gclc |
A |
G |
9: 77,683,571 (GRCm39) |
T143A |
probably benign |
Het |
| Gpr37 |
A |
G |
6: 25,669,623 (GRCm39) |
V407A |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,357,960 (GRCm39) |
|
probably null |
Het |
| Hnrnpll |
A |
C |
17: 80,341,534 (GRCm39) |
S502A |
probably benign |
Het |
| Ipo11 |
G |
T |
13: 106,932,170 (GRCm39) |
T975N |
probably benign |
Het |
| Kif17 |
C |
T |
4: 137,990,009 (GRCm39) |
Q66* |
probably null |
Het |
| Lrp10 |
T |
C |
14: 54,707,209 (GRCm39) |
V682A |
possibly damaging |
Het |
| Lsmem1 |
A |
T |
12: 40,230,677 (GRCm39) |
L75Q |
probably damaging |
Het |
| Med16 |
A |
T |
10: 79,735,169 (GRCm39) |
Y430N |
probably benign |
Het |
| Med8 |
C |
T |
4: 118,269,931 (GRCm39) |
S72L |
possibly damaging |
Het |
| Mex3a |
A |
G |
3: 88,443,682 (GRCm39) |
T253A |
probably damaging |
Het |
| Myf6 |
T |
C |
10: 107,329,220 (GRCm39) |
K242E |
probably damaging |
Het |
| Ncald |
T |
A |
15: 37,397,587 (GRCm39) |
Y31F |
probably benign |
Het |
| Ndufa12 |
T |
A |
10: 94,035,855 (GRCm39) |
Y48N |
probably damaging |
Het |
| Or12e10 |
T |
C |
2: 87,641,112 (GRCm39) |
V316A |
probably benign |
Het |
| Or51q1c |
T |
A |
7: 103,653,329 (GRCm39) |
Y282* |
probably null |
Het |
| Or5as1 |
T |
G |
2: 86,980,123 (GRCm39) |
N294T |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,610,639 (GRCm39) |
T1858A |
probably benign |
Het |
| Pgbd1 |
A |
G |
13: 21,618,651 (GRCm39) |
L2P |
probably damaging |
Het |
| Piezo1 |
C |
T |
8: 123,214,241 (GRCm39) |
R1642H |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,333,990 (GRCm39) |
M213K |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,965,041 (GRCm39) |
N709S |
probably damaging |
Het |
| Pramel1 |
T |
A |
4: 143,124,999 (GRCm39) |
W308R |
probably damaging |
Het |
| Prkag2 |
A |
T |
5: 25,076,539 (GRCm39) |
I208N |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rngtt |
T |
A |
4: 33,330,864 (GRCm39) |
F156I |
probably damaging |
Het |
| Rpusd3 |
A |
G |
6: 113,392,494 (GRCm39) |
*345Q |
probably null |
Het |
| Rrp1b |
A |
G |
17: 32,276,178 (GRCm39) |
K575R |
probably benign |
Het |
| Shd |
G |
A |
17: 56,281,307 (GRCm39) |
V250I |
probably damaging |
Het |
| Slc12a5 |
C |
A |
2: 164,834,296 (GRCm39) |
N749K |
possibly damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,254,021 (GRCm39) |
V488D |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Srsf4 |
C |
A |
4: 131,627,871 (GRCm39) |
|
probably benign |
Het |
| Strn |
T |
C |
17: 78,999,831 (GRCm39) |
Y135C |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,409,376 (GRCm39) |
M1V |
probably null |
Het |
| Tas1r3 |
T |
G |
4: 155,946,027 (GRCm39) |
Q489P |
probably benign |
Het |
| Tas2r103 |
A |
T |
6: 133,013,774 (GRCm39) |
N97K |
probably damaging |
Het |
| Tas2r113 |
A |
G |
6: 132,870,755 (GRCm39) |
Y261C |
possibly damaging |
Het |
| Tex21 |
T |
C |
12: 76,268,446 (GRCm39) |
E112G |
probably damaging |
Het |
| Trappc8 |
T |
C |
18: 20,966,055 (GRCm39) |
S1128G |
probably damaging |
Het |
| Ubap1l |
A |
G |
9: 65,279,025 (GRCm39) |
|
probably benign |
Het |
| Ubash3a |
A |
G |
17: 31,434,018 (GRCm39) |
D121G |
probably damaging |
Het |
| Ubxn4 |
A |
G |
1: 128,180,023 (GRCm39) |
I56V |
possibly damaging |
Het |
| Uri1 |
T |
C |
7: 37,662,949 (GRCm39) |
I348M |
probably damaging |
Het |
| Usp21 |
C |
A |
1: 171,111,295 (GRCm39) |
L379F |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,390 (GRCm39) |
H214L |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,341,900 (GRCm39) |
E93G |
unknown |
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 |
|
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'- TCCCTGATTTCCAAGGACAAAGCTG -3'
(R):5'- AGCTCCCGAGATTTGGCATAACTG -3'
Sequencing Primer
(F):5'- ACAAAGTTTATCAAATGGGAGCTG -3'
(R):5'- CAGGTGAGGTCCACTCTAATG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation