Incidental Mutation 'IGL02508:Pde6c'
| ID |
296440 |
| 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: 0.137)
|
| Stock # |
IGL02508
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
38121220-38172391 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38145948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 412
(K412R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025956]
[ENSMUST00000112329]
|
| AlphaFold |
Q91ZQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025956
AA Change: K412R
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000025956
Gene: ENSMUSG00000024992
AA Change: K412R
| 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 benign
Transcript: ENSMUST00000112329
AA Change: K412R
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107948
Gene: ENSMUSG00000024992
AA Change: K412R
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700061I17Rik |
T |
A |
3: 116,870,764 (GRCm39) |
|
noncoding transcript |
Het |
| Adgrv1 |
A |
T |
13: 81,583,675 (GRCm39) |
|
probably benign |
Het |
| AI429214 |
T |
G |
8: 37,461,240 (GRCm39) |
D129E |
probably benign |
Het |
| Alx1 |
G |
A |
10: 102,858,054 (GRCm39) |
T215M |
probably damaging |
Het |
| Arhgap39 |
A |
G |
15: 76,609,184 (GRCm39) |
*1079Q |
probably null |
Het |
| Brca2 |
T |
C |
5: 150,466,773 (GRCm39) |
V2179A |
possibly damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,824,559 (GRCm39) |
E91G |
probably damaging |
Het |
| Celsr1 |
G |
A |
15: 85,914,818 (GRCm39) |
Q1052* |
probably null |
Het |
| Chd5 |
A |
G |
4: 152,447,481 (GRCm39) |
E510G |
probably damaging |
Het |
| Cntnap2 |
A |
G |
6: 46,211,254 (GRCm39) |
D556G |
probably damaging |
Het |
| Cux2 |
G |
A |
5: 121,998,885 (GRCm39) |
P1352S |
possibly damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,428,261 (GRCm39) |
Y319F |
probably damaging |
Het |
| Dcaf12 |
C |
T |
4: 41,296,310 (GRCm39) |
|
probably null |
Het |
| Dcc |
C |
A |
18: 71,503,773 (GRCm39) |
A942S |
probably benign |
Het |
| Dyrk1a |
A |
T |
16: 94,486,042 (GRCm39) |
D463V |
probably damaging |
Het |
| Eln |
T |
A |
5: 134,733,422 (GRCm39) |
|
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,761,803 (GRCm39) |
|
probably null |
Het |
| Fndc3b |
T |
C |
3: 27,512,900 (GRCm39) |
Y742C |
probably damaging |
Het |
| Furin |
G |
A |
7: 80,042,269 (GRCm39) |
T442I |
probably benign |
Het |
| Gli1 |
T |
C |
10: 127,172,961 (GRCm39) |
Q155R |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,538,179 (GRCm39) |
E218G |
probably benign |
Het |
| Grb10 |
C |
T |
11: 11,896,767 (GRCm39) |
V236M |
probably damaging |
Het |
| Grhl2 |
T |
C |
15: 37,310,009 (GRCm39) |
|
probably benign |
Het |
| Hgfac |
A |
T |
5: 35,204,564 (GRCm39) |
M579L |
probably damaging |
Het |
| Ifi202b |
A |
T |
1: 173,802,338 (GRCm39) |
D165E |
probably benign |
Het |
| Klhl26 |
A |
T |
8: 70,905,381 (GRCm39) |
D95E |
probably damaging |
Het |
| Klk12 |
T |
C |
7: 43,419,113 (GRCm39) |
V26A |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,333,774 (GRCm39) |
G1489D |
probably benign |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,574 (GRCm39) |
S344C |
probably damaging |
Het |
| Lzts1 |
G |
A |
8: 69,593,500 (GRCm39) |
R36* |
probably null |
Het |
| Mapkap1 |
T |
C |
2: 34,408,681 (GRCm39) |
|
probably benign |
Het |
| Meis3 |
T |
A |
7: 15,912,722 (GRCm39) |
|
probably null |
Het |
| Mtmr14 |
T |
A |
6: 113,217,267 (GRCm39) |
C60S |
probably damaging |
Het |
| Nfkb1 |
T |
A |
3: 135,296,579 (GRCm39) |
Y789F |
probably damaging |
Het |
| Nup54 |
G |
A |
5: 92,565,398 (GRCm39) |
Q440* |
probably null |
Het |
| Ogdhl |
T |
G |
14: 32,067,131 (GRCm39) |
M861R |
probably damaging |
Het |
| Or13c7b |
T |
C |
4: 43,821,289 (GRCm39) |
E24G |
possibly damaging |
Het |
| Or4d10 |
G |
T |
19: 12,051,251 (GRCm39) |
H248Q |
possibly damaging |
Het |
| Or4k42 |
C |
T |
2: 111,320,180 (GRCm39) |
A108T |
probably damaging |
Het |
| Or52w1 |
A |
T |
7: 105,017,743 (GRCm39) |
H61L |
possibly damaging |
Het |
| Or6c69b |
A |
G |
10: 129,626,660 (GRCm39) |
V266A |
probably benign |
Het |
| Pex5l |
T |
C |
3: 33,047,051 (GRCm39) |
|
probably benign |
Het |
| Pigr |
A |
T |
1: 130,778,595 (GRCm39) |
I760L |
probably benign |
Het |
| Pramel28 |
T |
C |
4: 143,691,590 (GRCm39) |
N378D |
probably benign |
Het |
| Prr14l |
G |
A |
5: 32,988,286 (GRCm39) |
A403V |
probably benign |
Het |
| Prrt3 |
T |
C |
6: 113,471,268 (GRCm39) |
D968G |
probably damaging |
Het |
| Psmc5 |
T |
C |
11: 106,153,869 (GRCm39) |
I401T |
possibly damaging |
Het |
| Ralyl |
T |
A |
3: 14,172,332 (GRCm39) |
|
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,374,798 (GRCm39) |
E821G |
probably damaging |
Het |
| Serpinb3a |
T |
A |
1: 106,973,802 (GRCm39) |
I370F |
probably damaging |
Het |
| Setd1a |
A |
G |
7: 127,396,870 (GRCm39) |
|
probably benign |
Het |
| Slco2a1 |
T |
A |
9: 102,951,615 (GRCm39) |
F381L |
probably benign |
Het |
| Strada |
A |
G |
11: 106,059,182 (GRCm39) |
Y199H |
probably benign |
Het |
| Stxbp2 |
T |
C |
8: 3,682,531 (GRCm39) |
I40T |
probably damaging |
Het |
| Tbx3 |
T |
C |
5: 119,816,877 (GRCm39) |
V358A |
possibly damaging |
Het |
| Tenm3 |
A |
G |
8: 48,752,674 (GRCm39) |
L896S |
probably benign |
Het |
| Tmem132a |
A |
G |
19: 10,835,882 (GRCm39) |
S883P |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,818,190 (GRCm39) |
I496T |
possibly damaging |
Het |
| Unc79 |
C |
T |
12: 103,078,535 (GRCm39) |
R1548W |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,078,277 (GRCm39) |
|
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,996,067 (GRCm39) |
M194V |
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 |
|
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 |
|
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