Incidental Mutation 'R1643:Pde6c'
ID |
173723 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde6c
|
Ensembl Gene |
ENSMUSG00000024992 |
Gene Name |
phosphodiesterase 6C, cGMP specific, cone, alpha prime |
Synonyms |
cpfl1 |
MMRRC Submission |
039679-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R1643 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
38121220-38172391 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 38150406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 517
(T517K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107948
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025956]
[ENSMUST00000112329]
|
AlphaFold |
Q91ZQ1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025956
AA Change: T517K
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000025956 Gene: ENSMUSG00000024992 AA Change: T517K
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 |
possibly damaging
Transcript: ENSMUST00000112329
AA Change: T517K
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000107948 Gene: ENSMUSG00000024992 AA Change: T517K
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 |
0.1601 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.5%
|
Validation Efficiency |
99% (74/75) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700037C18Rik |
T |
A |
16: 3,724,942 (GRCm39) |
K45* |
probably null |
Het |
Abcc1 |
T |
A |
16: 14,231,232 (GRCm39) |
Y457N |
probably damaging |
Het |
Actr3b |
A |
G |
5: 26,017,009 (GRCm39) |
D19G |
probably damaging |
Het |
Adam39 |
T |
C |
8: 41,279,523 (GRCm39) |
V638A |
possibly damaging |
Het |
Adamts1 |
G |
T |
16: 85,593,705 (GRCm39) |
|
probably benign |
Het |
AI661453 |
A |
G |
17: 47,778,791 (GRCm39) |
|
probably benign |
Het |
Ank3 |
G |
A |
10: 69,720,632 (GRCm39) |
S565N |
probably benign |
Het |
Casd1 |
A |
G |
6: 4,621,243 (GRCm39) |
E267G |
probably benign |
Het |
Casr |
T |
C |
16: 36,320,567 (GRCm39) |
K527R |
probably damaging |
Het |
Cep128 |
A |
C |
12: 91,292,306 (GRCm39) |
S248A |
probably damaging |
Het |
Clic4 |
A |
G |
4: 134,966,206 (GRCm39) |
V50A |
possibly damaging |
Het |
Cylc2 |
C |
T |
4: 51,225,173 (GRCm39) |
A36V |
probably benign |
Het |
Derl1 |
T |
A |
15: 57,741,955 (GRCm39) |
M127L |
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,021,735 (GRCm39) |
V3529A |
possibly damaging |
Het |
Dock1 |
G |
T |
7: 134,700,508 (GRCm39) |
L1089F |
probably damaging |
Het |
Edil3 |
T |
A |
13: 89,437,695 (GRCm39) |
|
probably null |
Het |
Efcab3 |
A |
T |
11: 104,589,804 (GRCm39) |
T134S |
probably benign |
Het |
Ephb1 |
A |
G |
9: 101,874,024 (GRCm39) |
V550A |
probably damaging |
Het |
Fcho2 |
G |
A |
13: 98,921,324 (GRCm39) |
T187I |
probably benign |
Het |
Gas6 |
T |
C |
8: 13,515,902 (GRCm39) |
|
probably null |
Het |
Gdf7 |
T |
C |
12: 8,347,971 (GRCm39) |
Y442C |
probably damaging |
Het |
Gm11567 |
G |
A |
11: 99,770,623 (GRCm39) |
G187E |
unknown |
Het |
Gm8674 |
T |
C |
13: 50,055,394 (GRCm39) |
|
noncoding transcript |
Het |
Ift80 |
T |
A |
3: 68,823,490 (GRCm39) |
I591F |
probably benign |
Het |
Kcnn3 |
C |
T |
3: 89,427,804 (GRCm39) |
S10L |
unknown |
Het |
Keg1 |
A |
G |
19: 12,696,406 (GRCm39) |
I197V |
probably benign |
Het |
Klhdc9 |
A |
G |
1: 171,187,034 (GRCm39) |
|
probably null |
Het |
Klhl11 |
A |
G |
11: 100,353,841 (GRCm39) |
V660A |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,133,818 (GRCm39) |
|
probably benign |
Het |
Lrrc73 |
G |
T |
17: 46,566,266 (GRCm39) |
|
probably null |
Het |
Lrriq1 |
G |
A |
10: 103,050,685 (GRCm39) |
S689L |
probably benign |
Het |
Magi2 |
A |
G |
5: 20,910,504 (GRCm39) |
|
probably benign |
Het |
Meis1 |
A |
G |
11: 18,966,278 (GRCm39) |
S32P |
probably benign |
Het |
Mia2 |
A |
G |
12: 59,226,631 (GRCm39) |
|
probably null |
Het |
Mlph |
T |
C |
1: 90,869,456 (GRCm39) |
L486P |
probably damaging |
Het |
Myh10 |
A |
G |
11: 68,682,836 (GRCm39) |
E1090G |
probably damaging |
Het |
Mylk |
T |
C |
16: 34,696,005 (GRCm39) |
S247P |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
Ndufc1 |
T |
C |
3: 51,315,664 (GRCm39) |
T25A |
probably benign |
Het |
Nedd4l |
A |
G |
18: 65,331,712 (GRCm39) |
Y636C |
probably damaging |
Het |
Nfib |
A |
T |
4: 82,416,916 (GRCm39) |
Y40N |
probably damaging |
Het |
Niban3 |
A |
G |
8: 72,052,808 (GRCm39) |
D94G |
probably benign |
Het |
Nisch |
T |
C |
14: 30,895,125 (GRCm39) |
D1057G |
probably damaging |
Het |
P3h2 |
T |
C |
16: 25,791,041 (GRCm39) |
H475R |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,215,986 (GRCm39) |
I994V |
probably benign |
Het |
Pik3r4 |
A |
G |
9: 105,564,351 (GRCm39) |
D1315G |
possibly damaging |
Het |
Pip5k1c |
T |
G |
10: 81,150,828 (GRCm39) |
V46G |
probably damaging |
Het |
Pole |
A |
G |
5: 110,465,711 (GRCm39) |
E1213G |
probably damaging |
Het |
Prl7d1 |
T |
C |
13: 27,896,114 (GRCm39) |
S88G |
possibly damaging |
Het |
Prodh |
T |
A |
16: 17,898,933 (GRCm39) |
N72I |
probably benign |
Het |
Prrc2a |
G |
A |
17: 35,375,930 (GRCm39) |
R907C |
probably damaging |
Het |
Ptger2 |
T |
A |
14: 45,226,423 (GRCm39) |
M1K |
probably null |
Het |
Samd4b |
G |
C |
7: 28,123,041 (GRCm39) |
Q6E |
probably damaging |
Het |
Sec24a |
C |
T |
11: 51,595,212 (GRCm39) |
R916H |
probably benign |
Het |
Slc12a5 |
C |
A |
2: 164,835,947 (GRCm39) |
D865E |
probably benign |
Het |
Slc17a3 |
T |
C |
13: 24,041,181 (GRCm39) |
|
probably benign |
Het |
Ssrp1 |
T |
C |
2: 84,871,529 (GRCm39) |
V317A |
possibly damaging |
Het |
Stim1 |
A |
G |
7: 102,035,307 (GRCm39) |
D95G |
possibly damaging |
Het |
Taok2 |
A |
T |
7: 126,475,110 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
T |
G |
18: 60,949,300 (GRCm39) |
K1205T |
possibly damaging |
Het |
Trim43c |
C |
T |
9: 88,729,530 (GRCm39) |
R325C |
probably damaging |
Het |
Trub2 |
T |
G |
2: 29,667,948 (GRCm39) |
T231P |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Uty |
T |
A |
Y: 1,152,054 (GRCm39) |
D724V |
probably damaging |
Het |
Vmn2r98 |
A |
G |
17: 19,301,170 (GRCm39) |
D724G |
probably damaging |
Het |
Wdfy3 |
A |
G |
5: 102,023,781 (GRCm39) |
I2442T |
possibly damaging |
Het |
Wdfy4 |
T |
C |
14: 32,795,542 (GRCm39) |
|
probably null |
Het |
Zfp280b |
A |
G |
10: 75,875,444 (GRCm39) |
H441R |
probably damaging |
Het |
Zfp60 |
A |
T |
7: 27,436,400 (GRCm39) |
Q7L |
probably damaging |
Het |
Zzef1 |
T |
C |
11: 72,717,028 (GRCm39) |
L406S |
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 |
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 |
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 |
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'- GCCCATGACATTGTAGGACAGAAAGC -3'
(R):5'- TTGGAACCTCGGAAAACATTGCTGAAG -3'
Sequencing Primer
(F):5'- ttgaacgcaaatcatcagacc -3'
(R):5'- GAAAACATTGCTGAAGCCCAG -3'
|
Posted On |
2014-04-24 |