Incidental Mutation 'IGL03145:Cnga3'
ID 410864
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnga3
Ensembl Gene ENSMUSG00000026114
Gene Name cyclic nucleotide gated channel alpha 3
Synonyms CNG3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03145
Quality Score
Status
Chromosome 1
Chromosomal Location 37257317-37302465 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37300755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 530 (S530G)
Ref Sequence ENSEMBL: ENSMUSP00000142175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027288] [ENSMUST00000194195] [ENSMUST00000195272]
AlphaFold Q9JJZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000027288
AA Change: S492G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027288
Gene: ENSMUSG00000026114
AA Change: S492G

DomainStartEndE-ValueType
Pfam:Ion_trans 109 351 1.3e-30 PFAM
cNMP 423 547 2.5e-28 SMART
PDB:3SWY|C 567 610 2e-14 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000194195
AA Change: S492G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142075
Gene: ENSMUSG00000026114
AA Change: S492G

DomainStartEndE-ValueType
Pfam:Ion_trans 146 340 1.3e-15 PFAM
cNMP 423 547 2.4e-28 SMART
PDB:3SWY|C 567 610 2e-14 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000195272
AA Change: S530G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142175
Gene: ENSMUSG00000026114
AA Change: S530G

DomainStartEndE-ValueType
Pfam:Ion_trans 184 378 1.5e-15 PFAM
cNMP 461 585 2.4e-28 SMART
PDB:3SWY|C 605 648 3e-14 PDB
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 a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant animals experience progressive loss of cone photoreceptor cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik A G 10: 21,469,337 (GRCm39) D17G probably damaging Het
Adam39 C T 8: 41,277,695 (GRCm39) P29S probably benign Het
Afap1l1 T C 18: 61,874,880 (GRCm39) K434E possibly damaging Het
Akap7 T C 10: 25,115,565 (GRCm39) T187A probably damaging Het
Atp7b A C 8: 22,508,159 (GRCm39) I479S probably damaging Het
Cdh23 T A 10: 60,212,593 (GRCm39) E1606V probably damaging Het
Col13a1 A G 10: 61,727,040 (GRCm39) Y228H probably benign Het
Cybb C A X: 9,319,892 (GRCm39) E203* probably null Het
Dnah6 A T 6: 73,018,037 (GRCm39) M3594K probably damaging Het
Galnt14 C A 17: 73,811,903 (GRCm39) Q439H possibly damaging Het
Gck T A 11: 5,859,093 (GRCm39) D158V probably damaging Het
Gm5624 A G 14: 44,798,222 (GRCm39) M85T possibly damaging Het
Hgsnat A T 8: 26,436,480 (GRCm39) N557K probably damaging Het
Idua A G 5: 108,829,362 (GRCm39) T388A probably benign Het
Itgam A G 7: 127,712,191 (GRCm39) D692G probably benign Het
Lrrtm3 A G 10: 63,924,799 (GRCm39) Y123H probably benign Het
Mccc1 C T 3: 36,022,595 (GRCm39) R566H probably benign Het
Myh7 A T 14: 55,220,802 (GRCm39) L999Q probably damaging Het
Myo6 T G 9: 80,207,947 (GRCm39) Y1146* probably null Het
Nr3c1 C A 18: 39,619,313 (GRCm39) G325W probably damaging Het
Or2r11 A G 6: 42,437,434 (GRCm39) V173A probably benign Het
Or5p72 T A 7: 108,021,806 (GRCm39) H9Q probably benign Het
Or7e170 T A 9: 19,794,735 (GRCm39) I289F possibly damaging Het
Phf1 T C 17: 27,153,344 (GRCm39) probably null Het
Piezo1 T C 8: 123,209,660 (GRCm39) T2349A probably benign Het
Pih1d1 T C 7: 44,808,545 (GRCm39) probably null Het
Pold3 A G 7: 99,745,719 (GRCm39) S145P probably damaging Het
Prpf38b G T 3: 108,811,261 (GRCm39) probably benign Het
Racgap1 A T 15: 99,521,521 (GRCm39) M545K probably benign Het
Safb T C 17: 56,912,287 (GRCm39) Y802H probably damaging Het
Serpina3f A T 12: 104,183,716 (GRCm39) M193L probably benign Het
Slc43a2 G A 11: 75,459,263 (GRCm39) V432M probably benign Het
Spata2l T C 8: 123,960,075 (GRCm39) R405G possibly damaging Het
Sv2c A G 13: 96,125,606 (GRCm39) V377A probably damaging Het
Tbc1d15 C T 10: 115,038,421 (GRCm39) M597I probably benign Het
Tenm4 A T 7: 96,492,175 (GRCm39) R1036S probably damaging Het
Tjp3 A G 10: 81,119,522 (GRCm39) Y15H probably benign Het
Tkt A G 14: 30,282,645 (GRCm39) probably benign Het
Tpm2 T C 4: 43,519,447 (GRCm39) E145G probably damaging Het
Trib2 G A 12: 15,859,932 (GRCm39) H110Y probably damaging Het
Trim60 A T 8: 65,453,224 (GRCm39) S342T probably damaging Het
Ube2o T C 11: 116,434,835 (GRCm39) E542G probably damaging Het
Usp36 T C 11: 118,170,067 (GRCm39) D218G probably damaging Het
Zfp407 A G 18: 84,227,846 (GRCm39) L1921P probably damaging Het
Zfp983 G T 17: 21,877,924 (GRCm39) M42I probably damaging Het
Other mutations in Cnga3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01636:Cnga3 APN 1 37,299,874 (GRCm39) missense possibly damaging 0.89
IGL01677:Cnga3 APN 1 37,283,999 (GRCm39) nonsense probably null
IGL02475:Cnga3 APN 1 37,297,072 (GRCm39) critical splice acceptor site probably null
R1557:Cnga3 UTSW 1 37,300,066 (GRCm39) missense probably damaging 1.00
R1622:Cnga3 UTSW 1 37,283,909 (GRCm39) splice site probably benign
R1678:Cnga3 UTSW 1 37,300,579 (GRCm39) missense possibly damaging 0.94
R1938:Cnga3 UTSW 1 37,300,954 (GRCm39) missense possibly damaging 0.95
R2968:Cnga3 UTSW 1 37,300,159 (GRCm39) missense probably damaging 1.00
R2969:Cnga3 UTSW 1 37,300,159 (GRCm39) missense probably damaging 1.00
R3406:Cnga3 UTSW 1 37,301,146 (GRCm39) missense probably benign 0.00
R3694:Cnga3 UTSW 1 37,300,821 (GRCm39) missense probably damaging 1.00
R4079:Cnga3 UTSW 1 37,280,946 (GRCm39) missense possibly damaging 0.70
R4850:Cnga3 UTSW 1 37,297,087 (GRCm39) nonsense probably null
R4907:Cnga3 UTSW 1 37,281,023 (GRCm39) critical splice donor site probably null
R5802:Cnga3 UTSW 1 37,300,006 (GRCm39) missense probably damaging 0.98
R6135:Cnga3 UTSW 1 37,271,318 (GRCm39) start gained probably benign
R6586:Cnga3 UTSW 1 37,300,359 (GRCm39) missense probably damaging 0.99
R6997:Cnga3 UTSW 1 37,283,965 (GRCm39) missense probably benign 0.34
R7630:Cnga3 UTSW 1 37,297,127 (GRCm39) missense probably damaging 1.00
R7799:Cnga3 UTSW 1 37,300,852 (GRCm39) missense probably damaging 1.00
R8552:Cnga3 UTSW 1 37,284,060 (GRCm39) missense probably benign
R8859:Cnga3 UTSW 1 37,299,852 (GRCm39) missense possibly damaging 0.91
R8968:Cnga3 UTSW 1 37,300,460 (GRCm39) missense probably benign 0.23
Posted On 2016-08-02