Incidental Mutation 'IGL00493:Pde6c'
ID 12959
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde6c
Ensembl Gene ENSMUSG00000024992
Gene Name phosphodiesterase 6C, cGMP specific, cone, alpha prime
Synonyms cpfl1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # IGL00493
Quality Score
Status
Chromosome 19
Chromosomal Location 38121220-38172391 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 38151324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025956] [ENSMUST00000112329]
AlphaFold Q91ZQ1
Predicted Effect probably benign
Transcript: ENSMUST00000025956
SMART Domains Protein: ENSMUSP00000025956
Gene: ENSMUSG00000024992

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000112329
SMART Domains Protein: ENSMUSP00000107948
Gene: ENSMUSG00000024992

DomainStartEndE-ValueType
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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A G 13: 8,751,761 (GRCm39) T509A probably benign Het
Arhgap23 T C 11: 97,337,379 (GRCm39) probably null Het
Astn1 A T 1: 158,427,889 (GRCm39) I687F possibly damaging Het
Atg4d T C 9: 21,178,217 (GRCm39) F112L probably damaging Het
Bltp3b A C 10: 89,615,846 (GRCm39) D163A probably damaging Het
Cd200 T A 16: 45,217,409 (GRCm39) D94V probably damaging Het
Cfap46 T C 7: 139,194,359 (GRCm39) K2285R probably benign Het
Clhc1 T A 11: 29,521,745 (GRCm39) I426N probably damaging Het
Cnnm2 T A 19: 46,751,659 (GRCm39) V483E probably damaging Het
Dennd2b G A 7: 109,126,915 (GRCm39) A932V possibly damaging Het
Dlc1 A T 8: 37,037,436 (GRCm39) probably benign Het
Fpgs T C 2: 32,578,009 (GRCm39) I138V possibly damaging Het
Gpr152 T C 19: 4,193,506 (GRCm39) V349A probably benign Het
Hk1 C A 10: 62,122,127 (GRCm39) E523* probably null Het
Ift70a1 C A 2: 75,812,085 (GRCm39) probably benign Het
Krt6a T G 15: 101,601,229 (GRCm39) K241N probably damaging Het
Mcm3ap A G 10: 76,307,011 (GRCm39) S375G probably benign Het
Meikin C T 11: 54,289,320 (GRCm39) P231L probably damaging Het
Micall1 G A 15: 78,999,221 (GRCm39) probably benign Het
Mvk G A 5: 114,583,502 (GRCm39) V14I probably benign Het
Myo6 C T 9: 80,199,754 (GRCm39) S1021L probably damaging Het
N4bp2l2 G A 5: 150,585,401 (GRCm39) T193M probably benign Het
Naip5 G T 13: 100,367,279 (GRCm39) D272E probably damaging Het
Nptn T A 9: 58,550,922 (GRCm39) N316K probably damaging Het
Prg4 T A 1: 150,327,671 (GRCm39) I850L probably damaging Het
Rdm1 T G 11: 101,526,580 (GRCm39) C251G possibly damaging Het
Relch A G 1: 105,624,324 (GRCm39) probably benign Het
Rps6kl1 G A 12: 85,186,157 (GRCm39) P291L probably benign Het
Sel1l A G 12: 91,781,387 (GRCm39) probably benign Het
Serpinb1b T C 13: 33,277,850 (GRCm39) F361S probably damaging Het
Sirpb1a G A 3: 15,475,788 (GRCm39) probably benign Het
Smpd1 T G 7: 105,205,848 (GRCm39) V405G probably damaging Het
Spmip11 T C 15: 98,486,425 (GRCm39) probably benign Het
Tead3 T C 17: 28,551,780 (GRCm39) T438A possibly damaging Het
Treh A T 9: 44,595,197 (GRCm39) D89V probably damaging Het
Trim10 A T 17: 37,188,140 (GRCm39) H452L probably benign Het
Ugt2b1 A G 5: 87,073,817 (GRCm39) C181R probably benign Het
Xdh A T 17: 74,230,101 (GRCm39) F277I possibly damaging Het
Zswim4 T G 8: 84,938,769 (GRCm39) T1038P probably damaging Het
Other mutations in Pde6c
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06