Incidental Mutation 'R7428:Pde6c'
| ID |
576284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde6c
|
| Ensembl Gene |
ENSMUSG00000024992 |
| Gene Name |
phosphodiesterase 6C, cGMP specific, cone, alpha prime |
| Synonyms |
cpfl1 |
| MMRRC Submission |
045506-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R7428 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
38121220-38172391 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 38145984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025956]
[ENSMUST00000112329]
|
| AlphaFold |
Q91ZQ1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025956
|
| SMART Domains |
Protein: ENSMUSP00000025956
Gene: ENSMUSG00000024992
| 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
|
| SMART Domains |
Protein: ENSMUSP00000107948
Gene: ENSMUSG00000024992
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (71/71) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa10 |
T |
A |
8: 62,545,543 (GRCm39) |
Y63F |
probably benign |
Het |
| Atl2 |
T |
C |
17: 80,183,227 (GRCm39) |
|
probably null |
Het |
| B3gnt4 |
A |
G |
5: 123,648,794 (GRCm39) |
N53S |
probably damaging |
Het |
| Bpifb5 |
G |
A |
2: 154,067,042 (GRCm39) |
M98I |
probably benign |
Het |
| Cacna2d3 |
A |
G |
14: 28,786,232 (GRCm39) |
M585T |
probably damaging |
Het |
| Cbarp |
T |
C |
10: 79,967,138 (GRCm39) |
D701G |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,244,794 (GRCm39) |
S1221P |
possibly damaging |
Het |
| Cep350 |
T |
C |
1: 155,770,365 (GRCm39) |
S1842G |
probably benign |
Het |
| Cntrl |
T |
A |
2: 35,060,546 (GRCm39) |
W1913R |
probably benign |
Het |
| Creb5 |
C |
A |
6: 53,658,143 (GRCm39) |
Q158K |
unknown |
Het |
| Crtam |
G |
C |
9: 40,892,478 (GRCm39) |
A266G |
probably benign |
Het |
| Cry2 |
T |
C |
2: 92,243,392 (GRCm39) |
D483G |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 16,073,864 (GRCm39) |
F2044L |
possibly damaging |
Het |
| Cxcr6 |
A |
T |
9: 123,639,305 (GRCm39) |
Y109F |
probably benign |
Het |
| Cyb5b |
A |
G |
8: 107,897,048 (GRCm39) |
D106G |
probably benign |
Het |
| D630036H23Rik |
T |
C |
12: 36,431,537 (GRCm39) |
R154G |
unknown |
Het |
| Ddit4l |
A |
G |
3: 137,331,931 (GRCm39) |
E99G |
probably damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,710,192 (GRCm39) |
T1495S |
possibly damaging |
Het |
| Gm21886 |
A |
T |
18: 80,132,867 (GRCm39) |
L97Q |
probably damaging |
Het |
| Hlcs |
A |
G |
16: 94,068,758 (GRCm39) |
V154A |
probably benign |
Het |
| Hpdl |
A |
T |
4: 116,678,062 (GRCm39) |
L133Q |
probably damaging |
Het |
| Inpp5f |
A |
G |
7: 128,281,529 (GRCm39) |
D510G |
probably damaging |
Het |
| Ism2 |
G |
T |
12: 87,333,769 (GRCm39) |
T92K |
possibly damaging |
Het |
| Kif13b |
T |
C |
14: 65,025,909 (GRCm39) |
I1422T |
probably benign |
Het |
| Leng8 |
C |
T |
7: 4,146,572 (GRCm39) |
R395W |
probably damaging |
Het |
| Mocs2 |
A |
G |
13: 114,957,400 (GRCm39) |
I6V |
probably benign |
Het |
| Mthfr |
A |
G |
4: 148,136,060 (GRCm39) |
M378V |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,223,390 (GRCm39) |
T237A |
probably damaging |
Het |
| Nr1h4 |
T |
C |
10: 89,334,267 (GRCm39) |
E41G |
probably benign |
Het |
| Nup205 |
T |
A |
6: 35,204,494 (GRCm39) |
I1460N |
probably damaging |
Het |
| Nup98 |
A |
T |
7: 101,784,208 (GRCm39) |
|
probably null |
Het |
| Nxpe5 |
A |
C |
5: 138,238,022 (GRCm39) |
Y194S |
probably damaging |
Het |
| Or12e9 |
G |
T |
2: 87,202,034 (GRCm39) |
V53L |
probably benign |
Het |
| Or52m1 |
A |
G |
7: 102,289,533 (GRCm39) |
I27V |
probably benign |
Het |
| Or5m12 |
T |
A |
2: 85,734,475 (GRCm39) |
R308* |
probably null |
Het |
| Or5m3 |
A |
T |
2: 85,838,563 (GRCm39) |
I148L |
probably benign |
Het |
| Or9s18 |
A |
G |
13: 65,300,866 (GRCm39) |
Y276C |
probably damaging |
Het |
| Otof |
G |
T |
5: 30,547,169 (GRCm39) |
D383E |
probably damaging |
Het |
| Pcdh9 |
G |
T |
14: 94,124,547 (GRCm39) |
T541K |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,800,531 (GRCm39) |
I1179F |
|
Het |
| Pdia6 |
T |
C |
12: 17,328,546 (GRCm39) |
V167A |
probably damaging |
Het |
| Phf7 |
C |
T |
14: 30,962,370 (GRCm39) |
R145Q |
possibly damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,937,236 (GRCm39) |
V1139A |
probably benign |
Het |
| Prkg1 |
T |
C |
19: 30,556,235 (GRCm39) |
I585M |
probably damaging |
Het |
| Prom2 |
A |
G |
2: 127,381,731 (GRCm39) |
L195P |
probably damaging |
Het |
| Ptprd |
G |
A |
4: 76,004,705 (GRCm39) |
P17S |
probably benign |
Het |
| Rfx4 |
C |
A |
10: 84,731,876 (GRCm39) |
Q618K |
probably benign |
Het |
| Rhobtb1 |
T |
A |
10: 69,084,654 (GRCm39) |
I15N |
probably damaging |
Het |
| Sap30 |
C |
T |
8: 57,940,546 (GRCm39) |
V19M |
possibly damaging |
Het |
| Scrib |
G |
A |
15: 75,933,047 (GRCm39) |
T721M |
probably damaging |
Het |
| Slc12a1 |
C |
A |
2: 125,056,052 (GRCm39) |
T861N |
probably benign |
Het |
| Slc35f1 |
T |
A |
10: 52,965,510 (GRCm39) |
S308R |
probably damaging |
Het |
| Slc35f4 |
T |
A |
14: 49,536,355 (GRCm39) |
I427F |
probably damaging |
Het |
| Slco4c1 |
T |
C |
1: 96,765,245 (GRCm39) |
T402A |
possibly damaging |
Het |
| Sprr2f |
G |
A |
3: 92,273,251 (GRCm39) |
V17M |
unknown |
Het |
| Stab1 |
T |
C |
14: 30,881,216 (GRCm39) |
T605A |
probably benign |
Het |
| Taar8c |
A |
C |
10: 23,977,446 (GRCm39) |
L122R |
probably damaging |
Het |
| Tbc1d2 |
G |
A |
4: 46,649,965 (GRCm39) |
P24S |
probably benign |
Het |
| Tex36 |
T |
C |
7: 133,196,866 (GRCm39) |
|
probably null |
Het |
| Tmem145 |
T |
C |
7: 25,006,590 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
G |
2: 76,550,698 (GRCm39) |
D31528A |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,977,578 (GRCm39) |
V118E |
probably benign |
Het |
| Vmn1r195 |
T |
C |
13: 22,463,022 (GRCm39) |
V164A |
probably benign |
Het |
| Vmn2r69 |
T |
C |
7: 85,060,467 (GRCm39) |
I372M |
probably benign |
Het |
| Vmn2r93 |
A |
T |
17: 18,546,672 (GRCm39) |
H848L |
probably benign |
Het |
| Wnt9b |
T |
C |
11: 103,621,643 (GRCm39) |
Q338R |
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
probably benign |
Het |
| Zfp541 |
A |
T |
7: 15,826,793 (GRCm39) |
R1181W |
probably damaging |
Het |
| Zfp867 |
C |
T |
11: 59,354,760 (GRCm39) |
G190S |
probably benign |
Het |
| Zfp971 |
T |
A |
2: 177,674,967 (GRCm39) |
C189S |
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 |
|
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 |
|
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'- ATCAGCTAAGCAGTGGGTGG -3'
(R):5'- TGGGCGAAGTCAGACTTTATAC -3'
Sequencing Primer
(F):5'- CTGAATGAAGAGTCCGTGAACTTCTG -3'
(R):5'- GGCGAAGTCAGACTTTATACTTGTAC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation