Incidental Mutation 'R0497:Gucy2e'
| ID |
40549 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2e
|
| Ensembl Gene |
ENSMUSG00000020890 |
| Gene Name |
guanylate cyclase 2e |
| Synonyms |
GC1, GC-E, ROS-GC1 |
| MMRRC Submission |
038693-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.335)
|
| Stock # |
R0497 (G1)
|
| Quality Score |
118 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69218117-69237036 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69224159 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 974
(V974E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021259]
[ENSMUST00000108664]
[ENSMUST00000108665]
|
| AlphaFold |
P52785 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021259
AA Change: V974E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021259
Gene: ENSMUSG00000020890
AA Change: V974E
| 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 damaging
Transcript: ENSMUST00000108664
AA Change: V974E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104304
Gene: ENSMUSG00000020890
AA Change: V974E
| 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 damaging
Transcript: ENSMUST00000108665
AA Change: V974E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104305
Gene: ENSMUSG00000020890
AA Change: V974E
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
100% (68/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530053A07Rik |
T |
A |
7: 28,147,465 (GRCm38) |
C1158S |
probably damaging |
Het |
| Aatk |
A |
C |
11: 120,018,780 (GRCm38) |
V110G |
probably damaging |
Het |
| Adcy6 |
A |
C |
15: 98,597,725 (GRCm38) |
|
probably null |
Het |
| Adm |
A |
G |
7: 110,629,121 (GRCm38) |
T170A |
probably benign |
Het |
| Afap1l2 |
G |
T |
19: 56,930,209 (GRCm38) |
N171K |
probably benign |
Het |
| Aph1b |
G |
T |
9: 66,790,618 (GRCm38) |
S112* |
probably null |
Het |
| Arhgap23 |
A |
G |
11: 97,452,163 (GRCm38) |
S424G |
probably damaging |
Het |
| Asah2 |
T |
A |
19: 32,054,631 (GRCm38) |
N46I |
probably benign |
Het |
| Braf |
G |
A |
6: 39,640,549 (GRCm38) |
|
probably benign |
Het |
| Brd2 |
C |
T |
17: 34,114,360 (GRCm38) |
R47Q |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 143,012,093 (GRCm38) |
V972A |
probably benign |
Het |
| Car9 |
T |
A |
4: 43,511,881 (GRCm38) |
L300H |
probably damaging |
Het |
| Chmp3 |
T |
C |
6: 71,552,411 (GRCm38) |
S20P |
probably damaging |
Het |
| Chp1 |
A |
G |
2: 119,571,782 (GRCm38) |
N79S |
possibly damaging |
Het |
| Cnot2 |
A |
T |
10: 116,498,355 (GRCm38) |
I335N |
probably damaging |
Het |
| Cntnap4 |
T |
C |
8: 112,570,151 (GRCm38) |
V6A |
probably benign |
Het |
| Ctcf |
T |
A |
8: 105,675,040 (GRCm38) |
|
probably benign |
Het |
| Dennd1b |
A |
G |
1: 139,039,986 (GRCm38) |
|
probably benign |
Het |
| Dirc2 |
A |
T |
16: 35,735,604 (GRCm38) |
V162D |
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,856,640 (GRCm38) |
|
probably benign |
Het |
| Eef2 |
T |
C |
10: 81,181,586 (GRCm38) |
F782L |
probably benign |
Het |
| Eogt |
T |
A |
6: 97,135,233 (GRCm38) |
Y153F |
probably benign |
Het |
| Fam81a |
G |
T |
9: 70,096,119 (GRCm38) |
Q237K |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,283,402 (GRCm38) |
T2162S |
probably benign |
Het |
| Gas6 |
T |
C |
8: 13,470,387 (GRCm38) |
I434V |
possibly damaging |
Het |
| Gm42417 |
A |
T |
1: 36,532,167 (GRCm38) |
L77Q |
probably damaging |
Het |
| Grik3 |
A |
T |
4: 125,623,510 (GRCm38) |
N49Y |
possibly damaging |
Het |
| Helz2 |
A |
G |
2: 181,229,656 (GRCm38) |
V2721A |
probably damaging |
Het |
| Klhl6 |
GT |
G |
16: 19,956,966 (GRCm38) |
279 |
probably null |
Het |
| Krt73 |
A |
G |
15: 101,802,230 (GRCm38) |
L23P |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,282,874 (GRCm38) |
|
probably benign |
Het |
| Lrrc15 |
A |
T |
16: 30,272,892 (GRCm38) |
V543E |
probably damaging |
Het |
| Med13 |
G |
A |
11: 86,276,983 (GRCm38) |
|
probably benign |
Het |
| Med25 |
T |
C |
7: 44,892,100 (GRCm38) |
D60G |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,664,892 (GRCm38) |
Y560N |
probably damaging |
Het |
| Mlkl |
A |
G |
8: 111,327,873 (GRCm38) |
Y211H |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 101,101,294 (GRCm38) |
N289S |
probably benign |
Het |
| Nwd2 |
G |
T |
5: 63,806,343 (GRCm38) |
W1090L |
probably damaging |
Het |
| Olfr1281 |
A |
G |
2: 111,328,830 (GRCm38) |
D137G |
probably benign |
Het |
| Omt2b |
T |
C |
9: 78,328,231 (GRCm38) |
|
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,341,315 (GRCm38) |
L652P |
probably damaging |
Het |
| Pard3b |
T |
A |
1: 62,440,008 (GRCm38) |
|
probably null |
Het |
| Prdm15 |
G |
A |
16: 97,794,334 (GRCm38) |
T1098I |
possibly damaging |
Het |
| Rock2 |
A |
G |
12: 16,954,953 (GRCm38) |
T436A |
probably benign |
Het |
| Sema4c |
A |
T |
1: 36,549,608 (GRCm38) |
D812E |
probably benign |
Het |
| Sla |
A |
T |
15: 66,792,249 (GRCm38) |
I91K |
probably benign |
Het |
| Slc22a16 |
T |
G |
10: 40,584,967 (GRCm38) |
M255R |
probably damaging |
Het |
| Smg8 |
C |
T |
11: 87,086,084 (GRCm38) |
D224N |
possibly damaging |
Het |
| Spdef |
A |
T |
17: 27,718,058 (GRCm38) |
D190E |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,573,804 (GRCm38) |
I152T |
probably damaging |
Het |
| Tmem220 |
A |
G |
11: 67,025,922 (GRCm38) |
D36G |
probably damaging |
Het |
| Tmem235 |
A |
C |
11: 117,864,351 (GRCm38) |
I210L |
probably benign |
Het |
| Tmem266 |
C |
T |
9: 55,380,884 (GRCm38) |
|
probably null |
Het |
| Tmprss12 |
A |
G |
15: 100,281,039 (GRCm38) |
|
probably benign |
Het |
| Trim32 |
G |
A |
4: 65,613,254 (GRCm38) |
R16Q |
probably damaging |
Het |
| Usp38 |
T |
A |
8: 80,984,424 (GRCm38) |
|
probably benign |
Het |
| Usp44 |
C |
T |
10: 93,846,806 (GRCm38) |
P373S |
possibly damaging |
Het |
| Vmn1r209 |
G |
T |
13: 22,805,948 (GRCm38) |
Q191K |
probably damaging |
Het |
| Vmn1r70 |
T |
C |
7: 10,634,026 (GRCm38) |
I147T |
probably benign |
Het |
| Vmn2r107 |
T |
A |
17: 20,375,132 (GRCm38) |
I649N |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,091,889 (GRCm38) |
Y269* |
probably null |
Het |
| Zan |
C |
T |
5: 137,412,676 (GRCm38) |
|
probably benign |
Het |
| Zfp616 |
G |
T |
11: 74,083,480 (GRCm38) |
V192L |
probably benign |
Het |
| Zfp644 |
A |
T |
5: 106,638,333 (GRCm38) |
V116D |
probably damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,584,650 (GRCm38) |
|
probably benign |
Het |
| Zhx3 |
A |
T |
2: 160,779,994 (GRCm38) |
L751* |
probably null |
Het |
| Znfx1 |
T |
A |
2: 167,055,411 (GRCm38) |
Q531L |
probably benign |
Het |
|
| Other mutations in Gucy2e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00916:Gucy2e
|
APN |
11 |
69,223,097 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL01626:Gucy2e
|
APN |
11 |
69,232,855 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL01756:Gucy2e
|
APN |
11 |
69,232,852 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02030:Gucy2e
|
APN |
11 |
69,223,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02095:Gucy2e
|
APN |
11 |
69,232,787 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL02387:Gucy2e
|
APN |
11 |
69,236,116 (GRCm38) |
missense |
probably benign |
|
|
IGL02622:Gucy2e
|
APN |
11 |
69,225,031 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02660:Gucy2e
|
APN |
11 |
69,232,007 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL03181:Gucy2e
|
APN |
11 |
69,230,182 (GRCm38) |
splice site |
probably benign |
|
|
R0110:Gucy2e
|
UTSW |
11 |
69,235,576 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0115:Gucy2e
|
UTSW |
11 |
69,236,632 (GRCm38) |
missense |
unknown |
|
|
R0450:Gucy2e
|
UTSW |
11 |
69,235,576 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0469:Gucy2e
|
UTSW |
11 |
69,235,576 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0510:Gucy2e
|
UTSW |
11 |
69,235,576 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1252:Gucy2e
|
UTSW |
11 |
69,235,659 (GRCm38) |
missense |
probably benign |
|
|
R1535:Gucy2e
|
UTSW |
11 |
69,226,244 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1700:Gucy2e
|
UTSW |
11 |
69,232,058 (GRCm38) |
missense |
probably benign |
|
|
R2035:Gucy2e
|
UTSW |
11 |
69,227,532 (GRCm38) |
missense |
probably benign |
0.12 |
|
R2179:Gucy2e
|
UTSW |
11 |
69,228,578 (GRCm38) |
splice site |
probably null |
|
|
R3622:Gucy2e
|
UTSW |
11 |
69,225,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4212:Gucy2e
|
UTSW |
11 |
69,228,123 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4600:Gucy2e
|
UTSW |
11 |
69,236,168 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R4790:Gucy2e
|
UTSW |
11 |
69,228,448 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5170:Gucy2e
|
UTSW |
11 |
69,235,570 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5174:Gucy2e
|
UTSW |
11 |
69,236,566 (GRCm38) |
missense |
probably benign |
|
|
R5440:Gucy2e
|
UTSW |
11 |
69,223,646 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5586:Gucy2e
|
UTSW |
11 |
69,226,256 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5668:Gucy2e
|
UTSW |
11 |
69,228,381 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5820:Gucy2e
|
UTSW |
11 |
69,232,696 (GRCm38) |
missense |
probably benign |
0.36 |
|
R5826:Gucy2e
|
UTSW |
11 |
69,236,033 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6169:Gucy2e
|
UTSW |
11 |
69,236,104 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6544:Gucy2e
|
UTSW |
11 |
69,235,657 (GRCm38) |
missense |
probably benign |
|
|
R6815:Gucy2e
|
UTSW |
11 |
69,232,001 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7020:Gucy2e
|
UTSW |
11 |
69,232,793 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7592:Gucy2e
|
UTSW |
11 |
69,223,324 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7658:Gucy2e
|
UTSW |
11 |
69,226,229 (GRCm38) |
nonsense |
probably null |
|
|
R7812:Gucy2e
|
UTSW |
11 |
69,226,243 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8284:Gucy2e
|
UTSW |
11 |
69,232,351 (GRCm38) |
missense |
probably benign |
|
|
R8479:Gucy2e
|
UTSW |
11 |
69,232,963 (GRCm38) |
missense |
probably benign |
0.22 |
|
R8537:Gucy2e
|
UTSW |
11 |
69,236,353 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8806:Gucy2e
|
UTSW |
11 |
69,236,116 (GRCm38) |
missense |
probably benign |
|
|
R9030:Gucy2e
|
UTSW |
11 |
69,225,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9192:Gucy2e
|
UTSW |
11 |
69,236,477 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9217:Gucy2e
|
UTSW |
11 |
69,235,952 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R9304:Gucy2e
|
UTSW |
11 |
69,235,734 (GRCm38) |
missense |
probably benign |
0.20 |
|
R9566:Gucy2e
|
UTSW |
11 |
69,228,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9784:Gucy2e
|
UTSW |
11 |
69,232,690 (GRCm38) |
missense |
probably benign |
|
|
X0025:Gucy2e
|
UTSW |
11 |
69,226,244 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1186:Gucy2e
|
UTSW |
11 |
69,236,603 (GRCm38) |
missense |
unknown |
|
|
Z1186:Gucy2e
|
UTSW |
11 |
69,223,605 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1187:Gucy2e
|
UTSW |
11 |
69,236,603 (GRCm38) |
missense |
unknown |
|
|
Z1187:Gucy2e
|
UTSW |
11 |
69,223,605 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1188:Gucy2e
|
UTSW |
11 |
69,236,603 (GRCm38) |
missense |
unknown |
|
|
Z1188:Gucy2e
|
UTSW |
11 |
69,223,605 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1189:Gucy2e
|
UTSW |
11 |
69,236,603 (GRCm38) |
missense |
unknown |
|
|
Z1189:Gucy2e
|
UTSW |
11 |
69,223,605 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1190:Gucy2e
|
UTSW |
11 |
69,236,603 (GRCm38) |
missense |
unknown |
|
|
Z1190:Gucy2e
|
UTSW |
11 |
69,223,605 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1191:Gucy2e
|
UTSW |
11 |
69,236,603 (GRCm38) |
missense |
unknown |
|
|
Z1191:Gucy2e
|
UTSW |
11 |
69,223,605 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1192:Gucy2e
|
UTSW |
11 |
69,236,603 (GRCm38) |
missense |
unknown |
|
|
Z1192:Gucy2e
|
UTSW |
11 |
69,223,605 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTGTTACACTCACGCAGTCCAG -3'
(R):5'- GCCCAAATGCAACTCCTGCTTC -3'
Sequencing Primer
(F):5'- TGAAGCTGGCCTTGCTC -3'
(R):5'- AGAATATCTGCCCTAGTCTAGCC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation