Incidental Mutation 'R3406:Cnga3'
ID 259362
Institutional Source Beutler Lab
Gene Symbol Cnga3
Ensembl Gene ENSMUSG00000026114
Gene Name cyclic nucleotide gated channel alpha 3
Synonyms CNG3
MMRRC Submission 040624-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3406 (G1)
Quality Score 209
Status Validated
Chromosome 1
Chromosomal Location 37257317-37302465 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37301146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 622 (E622G)
Ref Sequence ENSEMBL: ENSMUSP00000142075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027288] [ENSMUST00000194195] [ENSMUST00000195272]
AlphaFold Q9JJZ8
Predicted Effect probably benign
Transcript: ENSMUST00000027288
AA Change: E622G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000027288
Gene: ENSMUSG00000026114
AA Change: E622G

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 benign
Transcript: ENSMUST00000194195
AA Change: E622G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000142075
Gene: ENSMUSG00000026114
AA Change: E622G

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 benign
Transcript: ENSMUST00000195272
AA Change: E660G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142175
Gene: ENSMUSG00000026114
AA Change: E660G

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
Meta Mutation Damage Score 0.0710 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.4%
Validation Efficiency 98% (52/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,859,338 (GRCm39) M1K probably null Het
Adam34l A T 8: 44,079,089 (GRCm39) C378* probably null Het
Bdkrb2 T C 12: 105,558,755 (GRCm39) V332A possibly damaging Het
Cdc27 T C 11: 104,398,026 (GRCm39) E778G probably damaging Het
Chd4 C A 6: 125,098,970 (GRCm39) T1586K probably benign Het
Dbh A G 2: 27,064,977 (GRCm39) D396G possibly damaging Het
Dhodh G A 8: 110,330,107 (GRCm39) R86* probably null Het
Dpt A C 1: 164,624,500 (GRCm39) E67A probably damaging Het
Eif2ak2 A G 17: 79,166,068 (GRCm39) probably benign Het
Esp4 T A 17: 40,913,336 (GRCm39) L68M possibly damaging Het
Exo1 A G 1: 175,733,536 (GRCm39) K787E possibly damaging Het
Fbxo38 T C 18: 62,647,914 (GRCm39) T875A probably damaging Het
Gsdma T C 11: 98,563,964 (GRCm39) probably benign Het
Hemk1 G A 9: 107,214,415 (GRCm39) Q6* probably null Het
Hmcn2 C T 2: 31,323,284 (GRCm39) probably benign Het
Hook2 A G 8: 85,720,613 (GRCm39) probably benign Het
Irx3 A G 8: 92,525,555 (GRCm39) S507P unknown Het
Kazn C A 4: 141,966,506 (GRCm39) probably benign Het
Kcne4 C T 1: 78,795,688 (GRCm39) A112V possibly damaging Het
Lamb1 C T 12: 31,337,528 (GRCm39) R372C probably damaging Het
Lrrc30 A G 17: 67,939,175 (GRCm39) L135P probably damaging Het
Lyst T A 13: 13,809,815 (GRCm39) M495K possibly damaging Het
Mab21l3 C A 3: 101,730,847 (GRCm39) V131F probably damaging Het
Mki67 T A 7: 135,309,204 (GRCm39) T416S probably benign Het
Mlst8 A T 17: 24,697,099 (GRCm39) M56K probably benign Het
Mmp9 A G 2: 164,791,310 (GRCm39) Y160C probably damaging Het
Mslnl A G 17: 25,965,155 (GRCm39) Y507C probably damaging Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myl12a A T 17: 71,301,737 (GRCm39) M130K probably benign Het
Nalf2 A G X: 98,889,109 (GRCm39) I325V probably benign Het
Ncdn C T 4: 126,642,388 (GRCm39) R423Q probably benign Het
Ncf2 A G 1: 152,701,698 (GRCm39) probably benign Het
Nek8 G T 11: 78,061,572 (GRCm39) S319* probably null Het
Or11g7 G A 14: 50,690,653 (GRCm39) C48Y probably benign Het
Or52m2 T C 7: 102,263,993 (GRCm39) M68V possibly damaging Het
Pcdh17 T A 14: 84,684,062 (GRCm39) D176E probably damaging Het
Pcdhb15 C A 18: 37,608,442 (GRCm39) A558E probably benign Het
Plrg1 T A 3: 82,978,526 (GRCm39) W431R probably damaging Het
Rbfox3 T A 11: 118,387,283 (GRCm39) Q277L possibly damaging Het
Rpgrip1 G A 14: 52,382,666 (GRCm39) D600N possibly damaging Het
Siah3 A G 14: 75,763,421 (GRCm39) D224G probably damaging Het
Slc22a6 T C 19: 8,598,675 (GRCm39) L244P probably damaging Het
Stap2 A T 17: 56,304,511 (GRCm39) W374R probably benign Het
Tbck T A 3: 132,432,845 (GRCm39) N418K probably benign Het
Tcp11x2 T C X: 134,555,733 (GRCm39) N474S probably damaging Het
Tenm3 A C 8: 48,681,590 (GRCm39) V2680G probably damaging Het
Thada A T 17: 84,538,213 (GRCm39) probably benign Het
Tlr6 C T 5: 65,110,772 (GRCm39) V712M probably damaging Het
Uvssa G T 5: 33,547,162 (GRCm39) G243C probably damaging Het
Vwa8 T A 14: 79,401,660 (GRCm39) probably benign Het
Znrf2 A T 6: 54,861,776 (GRCm39) N229I 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
IGL03145:Cnga3 APN 1 37,300,755 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATTGATGAGGACCTAGTCGCG -3'
(R):5'- GGAGAGGAAACTAAGGCTCTTCC -3'

Sequencing Primer
(F):5'- TCGCGGCCAGGGTAGATAC -3'
(R):5'- AGGCTCTTCCTTGCTGTCACAC -3'
Posted On 2015-01-23