Incidental Mutation 'R4708:Pde6c'
| ID |
355452 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde6c
|
| Ensembl Gene |
ENSMUSG00000024992 |
| Gene Name |
phosphodiesterase 6C, cGMP specific, cone, alpha prime |
| Synonyms |
cpfl1 |
| MMRRC Submission |
042017-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R4708 (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 38169341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 804
(E804K)
|
| 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: E829K
PolyPhen 2
Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000025956
Gene: ENSMUSG00000024992
AA Change: E829K
| 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: E804K
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107948
Gene: ENSMUSG00000024992
AA Change: E804K
| 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 |
0.1151 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
97% (68/70) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
G |
A |
7: 41,261,309 (GRCm39) |
G2D |
probably damaging |
Het |
| 4930505A04Rik |
T |
C |
11: 30,404,717 (GRCm39) |
Y62C |
probably damaging |
Het |
| Aadacl4 |
A |
C |
4: 144,349,899 (GRCm39) |
K385N |
probably benign |
Het |
| Abcb4 |
A |
T |
5: 8,965,125 (GRCm39) |
T332S |
possibly damaging |
Het |
| Aco2 |
G |
A |
15: 81,794,117 (GRCm39) |
|
probably null |
Het |
| Aplf |
G |
T |
6: 87,640,739 (GRCm39) |
S69Y |
probably damaging |
Het |
| Arhgap27 |
A |
G |
11: 103,224,388 (GRCm39) |
|
probably benign |
Het |
| B4galnt1 |
T |
A |
10: 127,005,684 (GRCm39) |
Y262N |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Ccdc62 |
T |
G |
5: 124,068,925 (GRCm39) |
|
probably null |
Het |
| Cd109 |
T |
A |
9: 78,579,871 (GRCm39) |
I649K |
probably benign |
Het |
| Cd209b |
T |
C |
8: 3,974,215 (GRCm39) |
E99G |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,359,126 (GRCm39) |
K952R |
probably benign |
Het |
| Ces2a |
A |
G |
8: 105,463,938 (GRCm39) |
H190R |
probably benign |
Het |
| Clec14a |
A |
G |
12: 58,314,489 (GRCm39) |
S378P |
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,202,150 (GRCm39) |
Q947R |
probably benign |
Het |
| Dennd3 |
A |
G |
15: 73,395,344 (GRCm39) |
T146A |
probably damaging |
Het |
| Dpy19l4 |
T |
A |
4: 11,277,970 (GRCm39) |
M486L |
probably benign |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| Eif4enif1 |
T |
G |
11: 3,170,323 (GRCm39) |
H125Q |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,794,386 (GRCm39) |
M1197L |
probably benign |
Het |
| Fubp3 |
C |
T |
2: 31,498,122 (GRCm39) |
T92I |
probably benign |
Het |
| Gm19426 |
T |
C |
2: 84,573,803 (GRCm39) |
|
probably null |
Het |
| Gtf2ird2 |
A |
G |
5: 134,245,140 (GRCm39) |
H466R |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,093,019 (GRCm39) |
S573G |
probably damaging |
Het |
| Iars2 |
A |
T |
1: 185,021,554 (GRCm39) |
M916K |
probably benign |
Het |
| Insr |
A |
T |
8: 3,261,346 (GRCm39) |
|
probably benign |
Het |
| Itgam |
T |
C |
7: 127,700,709 (GRCm39) |
V493A |
probably damaging |
Het |
| Ivl |
T |
A |
3: 92,479,057 (GRCm39) |
K336I |
probably damaging |
Het |
| Kcng2 |
A |
G |
18: 80,366,067 (GRCm39) |
I95T |
probably damaging |
Het |
| Lap3 |
A |
G |
5: 45,668,480 (GRCm39) |
R431G |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,787,005 (GRCm39) |
H115R |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,670,126 (GRCm39) |
V767A |
probably benign |
Het |
| Mttp |
A |
G |
3: 137,839,859 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
| Nat9 |
G |
A |
11: 115,074,269 (GRCm39) |
T133M |
probably damaging |
Het |
| Nectin4 |
T |
C |
1: 171,212,714 (GRCm39) |
I349T |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,163,533 (GRCm39) |
E900G |
probably benign |
Het |
| Nlrp9c |
A |
T |
7: 26,084,265 (GRCm39) |
M438K |
probably benign |
Het |
| Or2y14 |
T |
A |
11: 49,405,216 (GRCm39) |
Y250* |
probably null |
Het |
| Or52p2 |
A |
T |
7: 102,237,043 (GRCm39) |
D302E |
probably benign |
Het |
| Or5b21 |
A |
T |
19: 12,839,261 (GRCm39) |
I41F |
probably benign |
Het |
| Parp6 |
T |
C |
9: 59,549,052 (GRCm39) |
I507T |
probably damaging |
Het |
| Plscr2 |
A |
G |
9: 92,173,067 (GRCm39) |
Y203C |
probably damaging |
Het |
| Ptprs |
A |
G |
17: 56,735,067 (GRCm39) |
W216R |
probably damaging |
Het |
| Rhof |
T |
A |
5: 123,258,454 (GRCm39) |
T126S |
probably benign |
Het |
| Riox2 |
A |
G |
16: 59,296,045 (GRCm39) |
I49V |
probably benign |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Rusf1 |
A |
G |
7: 127,873,852 (GRCm39) |
V345A |
probably benign |
Het |
| Shld2 |
A |
G |
14: 33,989,790 (GRCm39) |
V372A |
probably benign |
Het |
| Spata31e2 |
A |
T |
1: 26,723,521 (GRCm39) |
V553D |
possibly damaging |
Het |
| Tmc6 |
A |
T |
11: 117,659,774 (GRCm39) |
C750S |
probably benign |
Het |
| Tmem231 |
C |
A |
8: 112,660,418 (GRCm39) |
|
probably benign |
Het |
| Tmem94 |
T |
A |
11: 115,677,121 (GRCm39) |
I131N |
possibly damaging |
Het |
| Tmx3 |
T |
C |
18: 90,539,163 (GRCm39) |
|
probably null |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,123 (GRCm39) |
T245I |
possibly damaging |
Het |
| Ttbk2 |
C |
A |
2: 120,570,342 (GRCm39) |
R1201S |
probably damaging |
Het |
| Vmn2r102 |
A |
T |
17: 19,914,576 (GRCm39) |
M714L |
probably benign |
Het |
| Vmn2r109 |
A |
G |
17: 20,761,605 (GRCm39) |
L584S |
probably damaging |
Het |
| Vmn2r53 |
T |
A |
7: 12,335,129 (GRCm39) |
H177L |
probably benign |
Het |
| Vnn1 |
T |
A |
10: 23,773,250 (GRCm39) |
D92E |
probably benign |
Het |
| Zan |
T |
C |
5: 137,444,974 (GRCm39) |
I1762V |
unknown |
Het |
| Zbtb20 |
G |
T |
16: 43,431,039 (GRCm39) |
A517S |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,310,563 (GRCm39) |
|
probably null |
Het |
| Zfp560 |
T |
C |
9: 20,263,214 (GRCm39) |
E54G |
possibly damaging |
Het |
| Zfp719 |
C |
T |
7: 43,239,656 (GRCm39) |
H415Y |
probably damaging |
Het |
| Zmynd11 |
A |
C |
13: 9,745,789 (GRCm39) |
V188G |
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 |
|
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 |
|
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'- TTCTACACCAGATCACGACTG -3'
(R):5'- GCATAAGATCTTGTCTGGGCG -3'
Sequencing Primer
(F):5'- TCTACACCAGATCACGACTGAAAGTC -3'
(R):5'- CTTGTCTGGGCGGTAAAATAACCC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation