Incidental Mutation 'R8097:Pde6c'
| ID |
630274 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde6c
|
| Ensembl Gene |
ENSMUSG00000024992 |
| Gene Name |
phosphodiesterase 6C, cGMP specific, cone, alpha prime |
| Synonyms |
cpfl1 |
| MMRRC Submission |
067529-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R8097 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
38121220-38172391 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 38150414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 520
(E520*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025956]
[ENSMUST00000112329]
|
| AlphaFold |
Q91ZQ1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025956
AA Change: E520*
|
| SMART Domains |
Protein: ENSMUSP00000025956
Gene: ENSMUSG00000024992
AA Change: E520*
| 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 null
Transcript: ENSMUST00000112329
AA Change: E520*
|
| SMART Domains |
Protein: ENSMUSP00000107948
Gene: ENSMUSG00000024992
AA Change: E520*
| 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 |
0.9756 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
| Validation Efficiency |
100% (64/64) |
| 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 |
|---|
| Abcc2 |
G |
A |
19: 43,805,394 (GRCm39) |
M749I |
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,743,711 (GRCm39) |
|
probably null |
Het |
| Adgrb2 |
G |
A |
4: 129,901,690 (GRCm39) |
C438Y |
probably damaging |
Het |
| Amn1 |
G |
A |
6: 149,070,853 (GRCm39) |
|
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,887,286 (GRCm39) |
R319W |
probably damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,510,115 (GRCm39) |
E830G |
probably benign |
Het |
| Ccdc71 |
T |
C |
9: 108,340,751 (GRCm39) |
V188A |
probably benign |
Het |
| Ceacam11 |
A |
T |
7: 17,709,455 (GRCm39) |
R218* |
probably null |
Het |
| Col18a1 |
A |
C |
10: 76,948,342 (GRCm39) |
L390R |
unknown |
Het |
| Cps1 |
A |
G |
1: 67,267,429 (GRCm39) |
N1399S |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,847,845 (GRCm39) |
E98G |
probably damaging |
Het |
| Cyp1a2 |
T |
A |
9: 57,586,836 (GRCm39) |
|
probably null |
Het |
| Cyp2d11 |
C |
A |
15: 82,274,581 (GRCm39) |
|
probably null |
Het |
| Cyp2j7 |
G |
A |
4: 96,103,647 (GRCm39) |
T296I |
possibly damaging |
Het |
| Dcc |
C |
T |
18: 71,812,573 (GRCm39) |
G407D |
probably damaging |
Het |
| E330034G19Rik |
T |
C |
14: 24,356,920 (GRCm39) |
L217S |
unknown |
Het |
| Eea1 |
A |
G |
10: 95,862,516 (GRCm39) |
K813E |
probably benign |
Het |
| Ell3 |
TCTCCTC |
TCTC |
2: 121,269,937 (GRCm39) |
|
probably benign |
Het |
| Etf1 |
T |
C |
18: 35,064,697 (GRCm39) |
D4G |
probably benign |
Het |
| F830045P16Rik |
T |
C |
2: 129,305,505 (GRCm39) |
T290A |
possibly damaging |
Het |
| Filip1 |
T |
C |
9: 79,725,541 (GRCm39) |
D1026G |
probably benign |
Het |
| Flad1 |
A |
T |
3: 89,316,442 (GRCm39) |
L40H |
probably damaging |
Het |
| Fpr3 |
C |
A |
17: 18,191,054 (GRCm39) |
N108K |
probably damaging |
Het |
| Galntl6 |
A |
G |
8: 58,415,407 (GRCm39) |
|
probably null |
Het |
| Hmgcll1 |
T |
C |
9: 75,922,421 (GRCm39) |
L22P |
probably benign |
Het |
| Iars2 |
C |
T |
1: 185,061,586 (GRCm39) |
|
probably benign |
Het |
| Ifna15 |
A |
T |
4: 88,475,938 (GRCm39) |
L182Q |
probably benign |
Het |
| Kcna6 |
A |
T |
6: 126,715,575 (GRCm39) |
V438E |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,381,032 (GRCm39) |
D1012V |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
G |
A |
10: 27,066,660 (GRCm39) |
Q1074* |
probably null |
Het |
| Lhx9 |
T |
C |
1: 138,766,089 (GRCm39) |
Y242C |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,394,925 (GRCm39) |
I167F |
probably benign |
Het |
| Lrrc49 |
T |
A |
9: 60,522,331 (GRCm39) |
T351S |
probably benign |
Het |
| Lrrc56 |
A |
G |
7: 140,775,819 (GRCm39) |
|
probably null |
Het |
| Mlh1 |
C |
A |
9: 111,085,160 (GRCm39) |
|
probably null |
Het |
| Msh4 |
C |
T |
3: 153,583,545 (GRCm39) |
|
probably null |
Het |
| Nav2 |
A |
G |
7: 49,237,525 (GRCm39) |
D1999G |
probably damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,145,945 (GRCm39) |
I1272K |
possibly damaging |
Het |
| Neurl1a |
A |
G |
19: 47,245,958 (GRCm39) |
D530G |
probably damaging |
Het |
| Nid2 |
T |
C |
14: 19,848,657 (GRCm39) |
V1019A |
possibly damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,330,650 (GRCm39) |
L582Q |
probably damaging |
Het |
| Or1o4 |
A |
T |
17: 37,590,818 (GRCm39) |
Y164* |
probably null |
Het |
| Or4c121 |
A |
T |
2: 89,023,976 (GRCm39) |
I134N |
probably damaging |
Het |
| Or51a39 |
A |
G |
7: 102,363,197 (GRCm39) |
V141A |
possibly damaging |
Het |
| Or8k1 |
A |
T |
2: 86,048,010 (GRCm39) |
F15I |
probably damaging |
Het |
| Pdzk1 |
C |
T |
3: 96,757,556 (GRCm39) |
T4I |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
| Rap1gap |
G |
T |
4: 137,455,597 (GRCm39) |
V667F |
probably benign |
Het |
| Recql |
A |
T |
6: 142,320,637 (GRCm39) |
I137N |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,960,881 (GRCm39) |
E19G |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,500,615 (GRCm39) |
|
probably null |
Het |
| Six1 |
A |
G |
12: 73,090,524 (GRCm39) |
S214P |
possibly damaging |
Het |
| Slc24a1 |
T |
C |
9: 64,831,734 (GRCm39) |
D1121G |
probably damaging |
Het |
| Slc30a6 |
T |
A |
17: 74,719,693 (GRCm39) |
C218S |
possibly damaging |
Het |
| Spata31e1 |
T |
A |
13: 49,943,676 (GRCm39) |
M1L |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,704,959 (GRCm39) |
D1803G |
possibly damaging |
Het |
| Sult2a3 |
A |
T |
7: 13,816,635 (GRCm39) |
V181E |
possibly damaging |
Het |
| Ubc |
C |
T |
5: 125,466,982 (GRCm39) |
|
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,596,800 (GRCm39) |
N870S |
probably benign |
Het |
| Vmn1r225 |
A |
G |
17: 20,722,611 (GRCm39) |
I17M |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,709,492 (GRCm39) |
I1813T |
probably benign |
Het |
| Wdr11 |
C |
T |
7: 129,209,611 (GRCm39) |
P473L |
probably damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,953,333 (GRCm39) |
I114N |
probably benign |
Het |
| Zfp516 |
C |
A |
18: 83,005,295 (GRCm39) |
S733* |
probably null |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
|
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'- AGGGGCCCATGACATTGTAG -3'
(R):5'- TGACAGAGTTTAAGCCGGTG -3'
Sequencing Primer
(F):5'- ATAACCTGGAGCTGCTGAGTC -3'
(R):5'- GACAGAGTTTAAGCCGGTGTATTCAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation