Incidental Mutation 'R4259:Pde6c'
| ID |
322589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde6c
|
| Ensembl Gene |
ENSMUSG00000024992 |
| Gene Name |
phosphodiesterase 6C, cGMP specific, cone, alpha prime |
| Synonyms |
cpfl1 |
| MMRRC Submission |
041072-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R4259 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
38121220-38172391 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 38151293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 608
(G608S)
|
| 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: G608S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025956
Gene: ENSMUSG00000024992
AA Change: G608S
| 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: G608S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107948
Gene: ENSMUSG00000024992
AA Change: G608S
| 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 |
0.9539 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (40/41) |
| 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 |
|---|
| 1700010I14Rik |
T |
C |
17: 9,214,066 (GRCm39) |
S298P |
probably damaging |
Het |
| 4930407I10Rik |
A |
G |
15: 81,947,927 (GRCm39) |
D608G |
possibly damaging |
Het |
| Actr10 |
T |
C |
12: 70,999,759 (GRCm39) |
V185A |
probably benign |
Het |
| Cd248 |
A |
G |
19: 5,118,866 (GRCm39) |
D238G |
probably damaging |
Het |
| Cep290 |
A |
C |
10: 100,350,354 (GRCm39) |
E649D |
probably damaging |
Het |
| Cyp2b19 |
G |
A |
7: 26,462,807 (GRCm39) |
G230S |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,520,883 (GRCm39) |
I1901V |
probably benign |
Het |
| Garin1b |
C |
G |
6: 29,320,800 (GRCm39) |
I141M |
probably damaging |
Het |
| Gpr171 |
A |
G |
3: 59,004,948 (GRCm39) |
S276P |
probably damaging |
Het |
| Hap1 |
C |
A |
11: 100,242,668 (GRCm39) |
|
probably null |
Het |
| Hcn1 |
A |
T |
13: 118,111,884 (GRCm39) |
K616M |
unknown |
Het |
| Igkv4-90 |
T |
C |
6: 68,784,461 (GRCm39) |
I18M |
possibly damaging |
Het |
| Itpr3 |
T |
A |
17: 27,325,298 (GRCm39) |
V1297E |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,280,506 (GRCm39) |
N1319D |
probably damaging |
Het |
| Krt72 |
T |
C |
15: 101,686,692 (GRCm39) |
E418G |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,059,413 (GRCm39) |
S599P |
possibly damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,980,512 (GRCm39) |
Y223N |
probably damaging |
Het |
| Or5p57 |
T |
A |
7: 107,665,100 (GRCm39) |
K272* |
probably null |
Het |
| Or8g50 |
A |
T |
9: 39,648,999 (GRCm39) |
D296V |
probably damaging |
Het |
| Or8k30 |
A |
G |
2: 86,339,343 (GRCm39) |
D180G |
probably damaging |
Het |
| Pdgfrb |
A |
C |
18: 61,210,703 (GRCm39) |
T737P |
probably benign |
Het |
| Pdk2 |
T |
C |
11: 94,931,970 (GRCm39) |
D38G |
probably benign |
Het |
| Pgk2 |
T |
G |
17: 40,518,274 (GRCm39) |
T385P |
probably benign |
Het |
| Prl3b1 |
T |
C |
13: 27,427,889 (GRCm39) |
|
probably null |
Het |
| Sat1 |
T |
C |
X: 153,998,182 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
A |
T |
8: 64,381,330 (GRCm39) |
F501I |
probably benign |
Het |
| Sgsm2 |
T |
A |
11: 74,782,854 (GRCm39) |
H34L |
probably damaging |
Het |
| Slc26a1 |
T |
A |
5: 108,820,496 (GRCm39) |
K250N |
probably damaging |
Het |
| Slc38a4 |
A |
G |
15: 96,896,374 (GRCm39) |
Y498H |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,939,686 (GRCm39) |
L150P |
probably damaging |
Het |
| Tbc1d32 |
A |
G |
10: 55,925,867 (GRCm39) |
S1093P |
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 |
|
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 |
|
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'- AAACTGTCTGGGATGCCAC -3'
(R):5'- CTTGTAGCCCATCCTGAGAC -3'
Sequencing Primer
(F):5'- CCTAACCTTTGGTAGAAACGTGACG -3'
(R):5'- AGTACAGGTCAGTGCAGT -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation