Incidental Mutation 'R9720:Pde6c'
| ID |
730759 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde6c
|
| Ensembl Gene |
ENSMUSG00000024992 |
| Gene Name |
phosphodiesterase 6C, cGMP specific, cone, alpha prime |
| Synonyms |
cpfl1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R9720 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
38121220-38172391 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38157887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 637
(Y637F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025956]
[ENSMUST00000112329]
|
| AlphaFold |
Q91ZQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025956
AA Change: Y637F
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000025956
Gene: ENSMUSG00000024992
AA Change: Y637F
| 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: Y637F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107948
Gene: ENSMUSG00000024992
AA Change: Y637F
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
G |
11: 84,154,183 (GRCm39) |
V968G |
probably damaging |
Het |
| Adam33 |
A |
G |
2: 130,900,236 (GRCm39) |
V110A |
|
Het |
| Adamts2 |
T |
C |
11: 50,666,954 (GRCm39) |
M417T |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,740,693 (GRCm39) |
I145T |
probably damaging |
Het |
| Ampd3 |
C |
A |
7: 110,377,056 (GRCm39) |
H16N |
probably benign |
Het |
| Ank3 |
A |
T |
10: 69,825,335 (GRCm39) |
S1335C |
|
Het |
| Ankrd26 |
G |
A |
6: 118,498,902 (GRCm39) |
S1208L |
probably damaging |
Het |
| Atmin |
G |
A |
8: 117,681,653 (GRCm39) |
|
probably null |
Het |
| AU018091 |
T |
C |
7: 3,209,272 (GRCm39) |
T323A |
probably benign |
Het |
| Barx2 |
A |
G |
9: 31,765,407 (GRCm39) |
|
probably null |
Het |
| Bltp3b |
T |
A |
10: 89,641,219 (GRCm39) |
S797T |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,026,330 (GRCm39) |
I468V |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,302,297 (GRCm39) |
H1985L |
probably benign |
Het |
| Cass4 |
T |
C |
2: 172,269,568 (GRCm39) |
V550A |
probably benign |
Het |
| Ccdc88a |
A |
G |
11: 29,413,813 (GRCm39) |
S784G |
probably benign |
Het |
| Cd300ld2 |
C |
T |
11: 114,903,118 (GRCm39) |
|
probably null |
Het |
| Cgn |
G |
A |
3: 94,686,621 (GRCm39) |
A227V |
probably benign |
Het |
| Clcn7 |
G |
T |
17: 25,374,471 (GRCm39) |
R524L |
probably damaging |
Het |
| Cldn22 |
G |
A |
8: 48,277,786 (GRCm39) |
A75T |
probably benign |
Het |
| Ddb1 |
A |
G |
19: 10,585,724 (GRCm39) |
D146G |
probably benign |
Het |
| Dhx32 |
C |
A |
7: 133,324,857 (GRCm39) |
E607* |
probably null |
Het |
| Egfem1 |
A |
G |
3: 29,716,580 (GRCm39) |
Y350C |
probably damaging |
Het |
| Eri2 |
T |
A |
7: 119,386,976 (GRCm39) |
D181V |
probably damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,862,673 (GRCm39) |
N137S |
probably damaging |
Het |
| Gar1 |
C |
T |
3: 129,620,497 (GRCm39) |
G197S |
unknown |
Het |
| Ggta1 |
G |
T |
2: 35,303,418 (GRCm39) |
D91E |
probably benign |
Het |
| Hap1 |
T |
A |
11: 100,246,696 (GRCm39) |
I70F |
probably benign |
Het |
| Hars2 |
A |
G |
18: 36,920,607 (GRCm39) |
Y150C |
probably damaging |
Het |
| Igsf9b |
G |
A |
9: 27,220,810 (GRCm39) |
V59I |
probably damaging |
Het |
| Il15 |
T |
G |
8: 83,058,608 (GRCm39) |
K142Q |
probably damaging |
Het |
| Klhl23 |
T |
C |
2: 69,654,804 (GRCm39) |
Y225H |
possibly damaging |
Het |
| Krt6b |
T |
A |
15: 101,588,226 (GRCm39) |
I145F |
probably benign |
Het |
| Lgals3bp |
T |
A |
11: 118,284,083 (GRCm39) |
T499S |
probably benign |
Het |
| Lrriq4 |
A |
G |
3: 30,714,077 (GRCm39) |
N490S |
probably damaging |
Het |
| Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
| Mical3 |
A |
G |
6: 120,935,238 (GRCm39) |
S1763P |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,250,304 (GRCm39) |
V1000A |
probably damaging |
Het |
| Nefm |
A |
G |
14: 68,358,793 (GRCm39) |
S414P |
probably benign |
Het |
| Nphs1 |
T |
C |
7: 30,165,499 (GRCm39) |
V622A |
possibly damaging |
Het |
| Or6c76 |
T |
C |
10: 129,612,581 (GRCm39) |
V281A |
probably benign |
Het |
| Or6d14 |
T |
C |
6: 116,534,016 (GRCm39) |
V210A |
possibly damaging |
Het |
| Pde4dip |
T |
C |
3: 97,603,287 (GRCm39) |
D2234G |
probably damaging |
Het |
| Pigg |
T |
A |
5: 108,467,800 (GRCm39) |
C266* |
probably null |
Het |
| Pkdrej |
A |
T |
15: 85,702,497 (GRCm39) |
D1146E |
possibly damaging |
Het |
| Pkp2 |
T |
C |
16: 16,087,584 (GRCm39) |
V756A |
probably benign |
Het |
| Pole |
C |
T |
5: 110,484,909 (GRCm39) |
T2245I |
probably benign |
Het |
| Ppm1g |
A |
C |
5: 31,360,914 (GRCm39) |
|
probably null |
Het |
| Ppp1r36 |
A |
G |
12: 76,485,298 (GRCm39) |
I340M |
possibly damaging |
Het |
| Pvr |
G |
A |
7: 19,643,121 (GRCm39) |
R371* |
probably null |
Het |
| Rassf9 |
G |
A |
10: 102,348,369 (GRCm39) |
|
probably benign |
Het |
| Rtl1 |
A |
C |
12: 109,559,882 (GRCm39) |
N652K |
possibly damaging |
Het |
| Sall4 |
G |
C |
2: 168,592,160 (GRCm39) |
S998C |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 142,197,796 (GRCm39) |
Y2150H |
probably damaging |
Het |
| Serpinb3b |
A |
T |
1: 107,083,669 (GRCm39) |
I170K |
probably benign |
Het |
| Shank2 |
A |
T |
7: 143,682,137 (GRCm39) |
D390V |
probably damaging |
Het |
| Slc39a4 |
A |
G |
15: 76,500,930 (GRCm39) |
V11A |
probably benign |
Het |
| Synj2 |
C |
T |
17: 6,040,584 (GRCm39) |
T220I |
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,868,733 (GRCm39) |
I216T |
probably benign |
Het |
| Tas2r122 |
G |
T |
6: 132,688,634 (GRCm39) |
D86E |
probably benign |
Het |
| Tbxa2r |
T |
A |
10: 81,169,018 (GRCm39) |
C236S |
probably benign |
Het |
| Trav13d-4 |
C |
A |
14: 53,995,286 (GRCm39) |
T80K |
probably benign |
Het |
| Trav6d-5 |
T |
A |
14: 53,033,077 (GRCm39) |
C109S |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,847,495 (GRCm39) |
M982T |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,683,485 (GRCm39) |
T2176S |
possibly damaging |
Het |
| Ypel1 |
T |
C |
16: 16,910,890 (GRCm39) |
T259A |
probably damaging |
Het |
| Zfp120 |
A |
T |
2: 149,959,197 (GRCm39) |
I397K |
probably benign |
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 |
|
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 |
|
|
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'- TTGGCCATTTCATAGACACTGAG -3'
(R):5'- GTCCTGTGACTTTCAGTGCC -3'
Sequencing Primer
(F):5'- CCATTTCATAGACACTGAGTAGGG -3'
(R):5'- AGTACAGCACCTTCTGTCAATGGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation