Incidental Mutation 'R0117:Pde6c'
ID |
20902 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde6c
|
Ensembl Gene |
ENSMUSG00000024992 |
Gene Name |
phosphodiesterase 6C, cGMP specific, cone, alpha prime |
Synonyms |
cpfl1 |
MMRRC Submission |
038403-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.147)
|
Stock # |
R0117 (G1)
|
Quality Score |
197 |
Status
|
Validated
(trace)
|
Chromosome |
19 |
Chromosomal Location |
38121220-38172391 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 38139979 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 314
(E314G)
|
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: E314G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025956 Gene: ENSMUSG00000024992 AA Change: E314G
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: E314G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107948 Gene: ENSMUSG00000024992 AA Change: E314G
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 |
|
Meta Mutation Damage Score |
0.4806 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.1%
|
Validation Efficiency |
95% (59/62) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angptl4 |
A |
T |
17: 33,999,776 (GRCm39) |
I141K |
probably damaging |
Het |
Bbs10 |
T |
A |
10: 111,135,194 (GRCm39) |
D102E |
possibly damaging |
Het |
Btaf1 |
A |
G |
19: 36,947,368 (GRCm39) |
T486A |
probably benign |
Het |
Casp8ap2 |
A |
G |
4: 32,640,817 (GRCm39) |
T624A |
probably benign |
Het |
Cep192 |
T |
C |
18: 67,983,808 (GRCm39) |
|
probably null |
Het |
Cep76 |
T |
C |
18: 67,759,744 (GRCm39) |
Y323C |
possibly damaging |
Het |
CK137956 |
T |
A |
4: 127,840,585 (GRCm39) |
T374S |
possibly damaging |
Het |
Cyp2b23 |
A |
T |
7: 26,372,539 (GRCm39) |
F359I |
probably benign |
Het |
Cyp4f13 |
G |
T |
17: 33,149,580 (GRCm39) |
H194Q |
probably damaging |
Het |
Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,474,878 (GRCm39) |
H1228R |
probably benign |
Het |
Eps15 |
T |
A |
4: 109,240,016 (GRCm39) |
D667E |
probably damaging |
Het |
Fig4 |
G |
A |
10: 41,106,037 (GRCm39) |
R716* |
probably null |
Het |
Fmnl3 |
G |
C |
15: 99,220,619 (GRCm39) |
|
probably benign |
Het |
Gmpr |
T |
A |
13: 45,670,560 (GRCm39) |
|
probably null |
Het |
Gsta5 |
C |
T |
9: 78,211,700 (GRCm39) |
T154I |
probably damaging |
Het |
Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
Herc2 |
C |
A |
7: 55,863,359 (GRCm39) |
|
probably benign |
Het |
Htr2a |
G |
A |
14: 74,882,533 (GRCm39) |
R173H |
probably damaging |
Het |
Impg2 |
A |
G |
16: 56,082,005 (GRCm39) |
N979S |
probably damaging |
Het |
Kcna2 |
A |
G |
3: 107,012,670 (GRCm39) |
Y417C |
probably damaging |
Het |
Lmf1 |
G |
T |
17: 25,874,965 (GRCm39) |
|
probably benign |
Het |
Lmntd2 |
G |
A |
7: 140,790,036 (GRCm39) |
R659C |
possibly damaging |
Het |
Mcm9 |
A |
G |
10: 53,413,832 (GRCm39) |
V416A |
possibly damaging |
Het |
Mgarp |
G |
T |
3: 51,304,133 (GRCm39) |
|
probably benign |
Het |
Mpp3 |
G |
A |
11: 101,891,399 (GRCm39) |
P580S |
probably damaging |
Het |
Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
Ninl |
G |
A |
2: 150,779,593 (GRCm39) |
R269W |
probably damaging |
Het |
Or7e170 |
T |
C |
9: 19,795,595 (GRCm39) |
E2G |
probably damaging |
Het |
Or8g19 |
T |
A |
9: 39,056,146 (GRCm39) |
I250N |
probably damaging |
Het |
Or8h8 |
T |
A |
2: 86,753,214 (GRCm39) |
I221F |
probably damaging |
Het |
Pcnt |
A |
T |
10: 76,244,561 (GRCm39) |
L1173* |
probably null |
Het |
Peds1 |
A |
G |
2: 167,486,678 (GRCm39) |
|
probably benign |
Het |
Phldb1 |
T |
C |
9: 44,623,003 (GRCm39) |
M1V |
probably null |
Het |
Pkdrej |
T |
A |
15: 85,700,300 (GRCm39) |
|
probably null |
Het |
Plch2 |
T |
A |
4: 155,069,815 (GRCm39) |
|
probably benign |
Het |
Pld2 |
G |
A |
11: 70,448,214 (GRCm39) |
R887Q |
probably benign |
Het |
Plxnb1 |
A |
G |
9: 108,934,286 (GRCm39) |
D838G |
possibly damaging |
Het |
Postn |
C |
T |
3: 54,290,902 (GRCm39) |
|
probably benign |
Het |
Prl8a8 |
T |
A |
13: 27,692,473 (GRCm39) |
I172F |
probably damaging |
Het |
Psmc4 |
A |
T |
7: 27,742,165 (GRCm39) |
|
probably benign |
Het |
Rabgap1 |
T |
A |
2: 37,451,897 (GRCm39) |
|
probably null |
Het |
Rapgef2 |
A |
G |
3: 78,986,484 (GRCm39) |
S1017P |
probably benign |
Het |
Rbak |
G |
T |
5: 143,159,387 (GRCm39) |
Y555* |
probably null |
Het |
Serpina1c |
T |
G |
12: 103,861,271 (GRCm39) |
*414C |
probably null |
Het |
Sntb1 |
A |
G |
15: 55,769,749 (GRCm39) |
V80A |
probably benign |
Het |
Sorl1 |
A |
G |
9: 41,944,873 (GRCm39) |
V884A |
probably benign |
Het |
Stmnd1 |
C |
A |
13: 46,438,962 (GRCm39) |
Q65K |
possibly damaging |
Het |
Tgm5 |
C |
T |
2: 120,905,583 (GRCm39) |
|
probably null |
Het |
Tubb1 |
T |
C |
2: 174,299,577 (GRCm39) |
S420P |
probably benign |
Het |
Tvp23b |
T |
C |
11: 62,770,430 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
C |
T |
2: 67,347,464 (GRCm39) |
A3235V |
possibly damaging |
Het |
Zc3h15 |
T |
C |
2: 83,488,427 (GRCm39) |
S122P |
possibly 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 |
IGL02542:Pde6c
|
APN |
19 |
38,166,578 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCCTGCTGAGATTAGCCAGTGAG -3'
(R):5'- TAACAAGCGTCCAGTGGTCTGC -3'
Sequencing Primer
(F):5'- gtgtgtgtgtgtgtgACAG -3'
(R):5'- CTGGAGGTGACCTTGGAGAAG -3'
|
Posted On |
2013-04-11 |