Incidental Mutation 'IGL02542:Pde6c'
| ID |
297699 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pde6c
|
| Ensembl Gene |
ENSMUSG00000024992 |
| Gene Name |
phosphodiesterase 6C, cGMP specific, cone, alpha prime |
| Synonyms |
cpfl1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
IGL02542
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
38121220-38172391 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 38166578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 707
(D707Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025956]
[ENSMUST00000112329]
|
| AlphaFold |
Q91ZQ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025956
AA Change: D707Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025956
Gene: ENSMUSG00000024992
AA Change: D707Y
| Domain | Start | End | E-Value | Type |
|---|
|
GAF
|
75 |
234 |
6.27e-26 |
SMART |
|
GAF
|
256 |
443 |
1.48e-22 |
SMART |
|
Blast:HDc
|
490 |
543 |
1e-8 |
BLAST |
|
HDc
|
559 |
737 |
7.57e-9 |
SMART |
|
low complexity region
|
827 |
836 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112329
AA Change: D707Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107948
Gene: ENSMUSG00000024992
AA Change: D707Y
| Domain | Start | End | E-Value | Type |
|---|
|
GAF
|
75 |
234 |
6.27e-26 |
SMART |
|
GAF
|
256 |
443 |
1.48e-22 |
SMART |
|
Blast:HDc
|
490 |
543 |
1e-8 |
BLAST |
|
HDc
|
559 |
737 |
1.62e-8 |
SMART |
|
low complexity region
|
802 |
811 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]
PHENOTYPE: A spontaneous mutation in this gene results in abnormal cone photoreceptor function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsa2 |
T |
A |
11: 23,440,559 (GRCm39) |
T231S |
possibly damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,243,067 (GRCm39) |
L1091P |
probably benign |
Het |
| Arhgap32 |
A |
T |
9: 32,166,944 (GRCm39) |
K527M |
probably damaging |
Het |
| Caap1 |
T |
C |
4: 94,438,742 (GRCm39) |
N149S |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,846,252 (GRCm39) |
|
probably benign |
Het |
| Cdk13 |
A |
T |
13: 17,902,763 (GRCm39) |
I929K |
probably damaging |
Het |
| Fan1 |
A |
G |
7: 64,014,408 (GRCm39) |
Y608H |
probably damaging |
Het |
| Foxj3 |
A |
G |
4: 119,477,540 (GRCm39) |
N416S |
unknown |
Het |
| Gm20547 |
T |
C |
17: 35,076,236 (GRCm39) |
S1151G |
possibly damaging |
Het |
| Ighv1-80 |
A |
T |
12: 115,876,199 (GRCm39) |
I39N |
probably damaging |
Het |
| Igkv11-125 |
A |
C |
6: 67,890,991 (GRCm39) |
E102A |
probably damaging |
Het |
| Mdc1 |
C |
A |
17: 36,164,048 (GRCm39) |
P1199T |
probably damaging |
Het |
| Negr1 |
T |
C |
3: 156,267,862 (GRCm39) |
S11P |
probably damaging |
Het |
| Oxsr1 |
T |
C |
9: 119,071,801 (GRCm39) |
R477G |
possibly damaging |
Het |
| Pappa |
T |
A |
4: 65,094,518 (GRCm39) |
F514L |
probably damaging |
Het |
| Phtf1 |
T |
C |
3: 103,901,222 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,165,995 (GRCm39) |
I2079F |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,227,145 (GRCm39) |
D668G |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,498,416 (GRCm39) |
Y887C |
probably damaging |
Het |
| Rax |
T |
C |
18: 66,071,701 (GRCm39) |
E62G |
possibly damaging |
Het |
| Rnf25 |
T |
C |
1: 74,633,260 (GRCm39) |
E364G |
probably benign |
Het |
| Sipa1l3 |
A |
T |
7: 29,087,490 (GRCm39) |
D578E |
probably damaging |
Het |
| Slc14a2 |
T |
G |
18: 78,252,302 (GRCm39) |
D3A |
probably benign |
Het |
| Slc28a3 |
A |
G |
13: 58,721,284 (GRCm39) |
Y294H |
probably damaging |
Het |
| Slit1 |
T |
C |
19: 41,615,687 (GRCm39) |
T811A |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,183,286 (GRCm39) |
T996A |
probably damaging |
Het |
| Tmem132b |
A |
C |
5: 125,699,558 (GRCm39) |
Q73P |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,786,553 (GRCm39) |
I1275N |
possibly damaging |
Het |
| Vasp |
A |
T |
7: 18,998,705 (GRCm39) |
D17E |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,388,414 (GRCm39) |
T700A |
probably benign |
Het |
| Ythdc2 |
T |
G |
18: 44,973,308 (GRCm39) |
L315W |
probably damaging |
Het |
| Zfp385c |
A |
G |
11: 100,520,742 (GRCm39) |
V306A |
probably damaging |
Het |
|
| Other mutations in Pde6c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Pde6c
|
APN |
19 |
38,151,324 (GRCm39) |
splice site |
probably benign |
|
|
IGL01333:Pde6c
|
APN |
19 |
38,164,143 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01390:Pde6c
|
APN |
19 |
38,150,376 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02508:Pde6c
|
APN |
19 |
38,145,948 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02546:Pde6c
|
APN |
19 |
38,128,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02661:Pde6c
|
APN |
19 |
38,169,248 (GRCm39) |
missense |
probably damaging |
0.97 |
|
silverton
|
UTSW |
19 |
38,151,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03097:Pde6c
|
UTSW |
19 |
38,166,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0117:Pde6c
|
UTSW |
19 |
38,139,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Pde6c
|
UTSW |
19 |
38,157,813 (GRCm39) |
splice site |
probably benign |
|
|
R0349:Pde6c
|
UTSW |
19 |
38,150,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Pde6c
|
UTSW |
19 |
38,121,694 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0692:Pde6c
|
UTSW |
19 |
38,168,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0785:Pde6c
|
UTSW |
19 |
38,121,628 (GRCm39) |
missense |
probably benign |
|
|
R1605:Pde6c
|
UTSW |
19 |
38,129,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1643:Pde6c
|
UTSW |
19 |
38,150,406 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1694:Pde6c
|
UTSW |
19 |
38,168,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1781:Pde6c
|
UTSW |
19 |
38,140,146 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1900:Pde6c
|
UTSW |
19 |
38,150,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1944:Pde6c
|
UTSW |
19 |
38,145,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1945:Pde6c
|
UTSW |
19 |
38,145,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2143:Pde6c
|
UTSW |
19 |
38,150,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2497:Pde6c
|
UTSW |
19 |
38,142,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3737:Pde6c
|
UTSW |
19 |
38,128,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4010:Pde6c
|
UTSW |
19 |
38,157,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4241:Pde6c
|
UTSW |
19 |
38,151,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4242:Pde6c
|
UTSW |
19 |
38,151,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4259:Pde6c
|
UTSW |
19 |
38,151,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Pde6c
|
UTSW |
19 |
38,157,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4677:Pde6c
|
UTSW |
19 |
38,145,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4708:Pde6c
|
UTSW |
19 |
38,169,341 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4889:Pde6c
|
UTSW |
19 |
38,121,599 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4898:Pde6c
|
UTSW |
19 |
38,139,072 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4941:Pde6c
|
UTSW |
19 |
38,140,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5448:Pde6c
|
UTSW |
19 |
38,121,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6174:Pde6c
|
UTSW |
19 |
38,128,677 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6249:Pde6c
|
UTSW |
19 |
38,147,008 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6270:Pde6c
|
UTSW |
19 |
38,146,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7183:Pde6c
|
UTSW |
19 |
38,121,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7428:Pde6c
|
UTSW |
19 |
38,145,984 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7429:Pde6c
|
UTSW |
19 |
38,129,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7430:Pde6c
|
UTSW |
19 |
38,129,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7643:Pde6c
|
UTSW |
19 |
38,129,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7793:Pde6c
|
UTSW |
19 |
38,148,201 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7811:Pde6c
|
UTSW |
19 |
38,128,507 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8097:Pde6c
|
UTSW |
19 |
38,150,414 (GRCm39) |
nonsense |
probably null |
|
|
R9085:Pde6c
|
UTSW |
19 |
38,166,569 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9565:Pde6c
|
UTSW |
19 |
38,147,008 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9720:Pde6c
|
UTSW |
19 |
38,157,887 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9786:Pde6c
|
UTSW |
19 |
38,140,009 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1176:Pde6c
|
UTSW |
19 |
38,121,329 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation