Incidental Mutation 'R4615:Cnga1'
ID 345015
Institutional Source Beutler Lab
Gene Symbol Cnga1
Ensembl Gene ENSMUSG00000067220
Gene Name cyclic nucleotide gated channel alpha 1
Synonyms Cncg
MMRRC Submission 041826-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.310) question?
Stock # R4615 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 72761039-72800095 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 72762117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 466 (L466V)
Ref Sequence ENSEMBL: ENSMUSP00000143881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087213] [ENSMUST00000169997] [ENSMUST00000201463]
AlphaFold P29974
Predicted Effect probably damaging
Transcript: ENSMUST00000087213
AA Change: L466V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084464
Gene: ENSMUSG00000067220
AA Change: L466V

DomainStartEndE-ValueType
coiled coil region 111 150 N/A INTRINSIC
Pfam:Ion_trans 156 400 3e-33 PFAM
cNMP 471 595 3.31e-25 SMART
PDB:3SWF|C 615 684 6e-31 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000169997
AA Change: L466V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132329
Gene: ENSMUSG00000067220
AA Change: L466V

DomainStartEndE-ValueType
coiled coil region 111 150 N/A INTRINSIC
Pfam:Ion_trans 194 388 4.7e-19 PFAM
cNMP 471 595 3.31e-25 SMART
PDB:3SWF|C 615 684 6e-31 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000201463
AA Change: L466V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143881
Gene: ENSMUSG00000067220
AA Change: L466V

DomainStartEndE-ValueType
coiled coil region 111 150 N/A INTRINSIC
Pfam:Ion_trans 156 400 3e-33 PFAM
cNMP 471 595 3.31e-25 SMART
PDB:3SWF|C 615 684 6e-31 PDB
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,369,493 (GRCm39) I363V probably benign Het
Abcc9 C G 6: 142,634,833 (GRCm39) A144P possibly damaging Het
Adgrv1 C T 13: 81,642,688 (GRCm39) probably null Het
Adprhl1 A G 8: 13,292,250 (GRCm39) probably null Het
Angptl3 A T 4: 98,919,598 (GRCm39) E119D probably benign Het
Atp8b1 T C 18: 64,686,170 (GRCm39) N671S probably null Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Carmil2 A G 8: 106,421,706 (GRCm39) D1019G possibly damaging Het
Cdh8 A T 8: 100,006,254 (GRCm39) I111K probably damaging Het
Cep120 T C 18: 53,847,913 (GRCm39) R649G probably damaging Het
Clptm1l A T 13: 73,755,857 (GRCm39) K158* probably null Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cpsf1 T C 15: 76,481,137 (GRCm39) T1240A possibly damaging Het
Cubn A G 2: 13,433,560 (GRCm39) S1117P probably damaging Het
Cyp2b9 T A 7: 25,900,550 (GRCm39) L396Q probably damaging Het
Cyp8b1 A T 9: 121,745,164 (GRCm39) L56* probably null Het
Dcbld2 A G 16: 58,276,457 (GRCm39) T458A probably benign Het
Dio2 G T 12: 90,696,595 (GRCm39) P131Q probably damaging Het
Dlg5 T C 14: 24,208,236 (GRCm39) Y990C probably damaging Het
Dsc3 T C 18: 20,104,545 (GRCm39) D594G possibly damaging Het
Dsp A G 13: 38,375,608 (GRCm39) E1131G probably damaging Het
Fdx1 A T 9: 51,859,945 (GRCm39) Y21* probably null Het
Gal3st4 A G 5: 138,264,525 (GRCm39) V158A probably damaging Het
Gm10269 T A 18: 20,815,820 (GRCm39) E67D probably benign Het
Gm5773 A G 3: 93,681,339 (GRCm39) H337R probably benign Het
Gng2 C T 14: 19,941,395 (GRCm39) V16I possibly damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Itprid2 A G 2: 79,492,726 (GRCm39) E1091G probably damaging Het
Lama2 C A 10: 26,857,520 (GRCm39) V3110F probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Ncapg A T 5: 45,844,741 (GRCm39) M579L probably benign Het
Oog3 A T 4: 143,884,899 (GRCm39) Y346N probably benign Het
Or10ak14 T C 4: 118,611,334 (GRCm39) T134A probably benign Het
Or14c39 T C 7: 86,343,936 (GRCm39) S91P probably damaging Het
Orm2 A G 4: 63,281,536 (GRCm39) D89G probably damaging Het
Pcdhb4 T A 18: 37,441,553 (GRCm39) S288T probably benign Het
Pcsk2 G T 2: 143,637,889 (GRCm39) C375F probably damaging Het
Pdcd10 T C 3: 75,428,398 (GRCm39) I138M probably damaging Het
Pde8a T C 7: 80,970,485 (GRCm39) W536R probably damaging Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Plcl1 A T 1: 55,737,293 (GRCm39) N878I probably benign Het
Prkdc A T 16: 15,480,938 (GRCm39) D353V probably damaging Het
Psme4 C T 11: 30,784,287 (GRCm39) T954I probably benign Het
Ran A G 5: 129,099,162 (GRCm39) I115V probably benign Het
Reln A G 5: 22,177,870 (GRCm39) L1867P possibly damaging Het
S100a1 A G 3: 90,418,562 (GRCm39) V84A possibly damaging Het
Sall2 G A 14: 52,550,207 (GRCm39) P994L probably benign Het
Shtn1 A T 19: 59,010,648 (GRCm39) I273N probably benign Het
Slc17a9 T C 2: 180,373,699 (GRCm39) I40T probably benign Het
Slc29a2 T C 19: 5,079,292 (GRCm39) V305A probably damaging Het
Taar2 T A 10: 23,817,263 (GRCm39) F268I probably benign Het
Taf3 G A 2: 9,956,901 (GRCm39) T422I probably damaging Het
Tgs1 T C 4: 3,585,156 (GRCm39) F99L probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Ttn A G 2: 76,597,219 (GRCm39) I19898T probably damaging Het
Ulk1 G T 5: 110,936,912 (GRCm39) T3N probably damaging Het
Vars1 A T 17: 35,232,857 (GRCm39) K900N probably damaging Het
Vmn2r15 A G 5: 109,441,348 (GRCm39) V170A possibly damaging Het
Vmn2r53 A T 7: 12,316,229 (GRCm39) L530Q probably damaging Het
Zar1l G T 5: 150,441,528 (GRCm39) Q33K probably benign Het
Zdhhc16 T C 19: 41,932,122 (GRCm39) V358A possibly damaging Het
Other mutations in Cnga1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02332:Cnga1 APN 5 72,761,829 (GRCm39) missense probably damaging 1.00
IGL02345:Cnga1 APN 5 72,762,615 (GRCm39) missense probably benign 0.00
IGL02354:Cnga1 APN 5 72,774,061 (GRCm39) splice site probably null
IGL02361:Cnga1 APN 5 72,774,061 (GRCm39) splice site probably null
IGL03025:Cnga1 APN 5 72,762,756 (GRCm39) missense probably benign
IGL03257:Cnga1 APN 5 72,768,205 (GRCm39) missense probably damaging 1.00
tintoretto UTSW 5 72,766,843 (GRCm39) missense probably damaging 1.00
IGL03046:Cnga1 UTSW 5 72,761,681 (GRCm39) missense probably benign 0.01
R0238:Cnga1 UTSW 5 72,762,374 (GRCm39) missense probably damaging 0.97
R0238:Cnga1 UTSW 5 72,762,374 (GRCm39) missense probably damaging 0.97
R0352:Cnga1 UTSW 5 72,761,846 (GRCm39) missense possibly damaging 0.95
R1292:Cnga1 UTSW 5 72,762,026 (GRCm39) missense probably damaging 1.00
R1386:Cnga1 UTSW 5 72,769,526 (GRCm39) nonsense probably null
R1903:Cnga1 UTSW 5 72,774,068 (GRCm39) missense possibly damaging 0.94
R2096:Cnga1 UTSW 5 72,776,404 (GRCm39) missense possibly damaging 0.85
R2097:Cnga1 UTSW 5 72,776,404 (GRCm39) missense possibly damaging 0.85
R2101:Cnga1 UTSW 5 72,776,404 (GRCm39) missense possibly damaging 0.85
R2276:Cnga1 UTSW 5 72,776,404 (GRCm39) missense possibly damaging 0.85
R2279:Cnga1 UTSW 5 72,776,404 (GRCm39) missense possibly damaging 0.85
R2507:Cnga1 UTSW 5 72,776,404 (GRCm39) missense possibly damaging 0.85
R2508:Cnga1 UTSW 5 72,776,404 (GRCm39) missense possibly damaging 0.85
R3005:Cnga1 UTSW 5 72,762,450 (GRCm39) missense probably damaging 1.00
R3779:Cnga1 UTSW 5 72,762,126 (GRCm39) missense probably damaging 1.00
R4357:Cnga1 UTSW 5 72,775,595 (GRCm39) missense probably damaging 1.00
R4399:Cnga1 UTSW 5 72,761,724 (GRCm39) missense probably damaging 0.98
R4946:Cnga1 UTSW 5 72,762,107 (GRCm39) missense probably damaging 1.00
R5229:Cnga1 UTSW 5 72,766,843 (GRCm39) missense probably damaging 1.00
R5474:Cnga1 UTSW 5 72,762,536 (GRCm39) missense probably damaging 1.00
R5566:Cnga1 UTSW 5 72,775,593 (GRCm39) missense probably damaging 0.98
R5754:Cnga1 UTSW 5 72,762,615 (GRCm39) missense probably benign 0.00
R5899:Cnga1 UTSW 5 72,776,404 (GRCm39) missense possibly damaging 0.85
R5906:Cnga1 UTSW 5 72,768,201 (GRCm39) missense probably benign 0.19
R5954:Cnga1 UTSW 5 72,762,221 (GRCm39) missense probably damaging 0.99
R5997:Cnga1 UTSW 5 72,761,918 (GRCm39) missense probably damaging 0.98
R6087:Cnga1 UTSW 5 72,768,155 (GRCm39) missense probably damaging 1.00
R6365:Cnga1 UTSW 5 72,762,288 (GRCm39) missense probably benign 0.00
R6391:Cnga1 UTSW 5 72,769,702 (GRCm39) critical splice donor site probably null
R6525:Cnga1 UTSW 5 72,775,574 (GRCm39) missense probably damaging 1.00
R7046:Cnga1 UTSW 5 72,786,696 (GRCm39) intron probably benign
R7229:Cnga1 UTSW 5 72,775,592 (GRCm39) missense probably benign
R7299:Cnga1 UTSW 5 72,762,775 (GRCm39) missense probably benign 0.20
R7367:Cnga1 UTSW 5 72,762,701 (GRCm39) missense possibly damaging 0.75
R7425:Cnga1 UTSW 5 72,766,868 (GRCm39) missense probably benign 0.12
R7449:Cnga1 UTSW 5 72,762,647 (GRCm39) missense probably benign 0.29
R7538:Cnga1 UTSW 5 72,769,723 (GRCm39) missense probably benign 0.24
R7808:Cnga1 UTSW 5 72,761,616 (GRCm39) missense possibly damaging 0.69
R7922:Cnga1 UTSW 5 72,762,225 (GRCm39) missense possibly damaging 0.81
R7938:Cnga1 UTSW 5 72,761,597 (GRCm39) missense probably benign 0.27
R7994:Cnga1 UTSW 5 72,762,003 (GRCm39) missense probably damaging 1.00
R8249:Cnga1 UTSW 5 72,762,737 (GRCm39) missense probably benign 0.02
R8690:Cnga1 UTSW 5 72,761,835 (GRCm39) missense probably benign 0.15
R9689:Cnga1 UTSW 5 72,762,170 (GRCm39) missense probably benign 0.10
X0062:Cnga1 UTSW 5 72,761,828 (GRCm39) missense probably damaging 1.00
Z1177:Cnga1 UTSW 5 72,762,873 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- ACTGTGTAATTCCGTCATCTGC -3'
(R):5'- CAATATGAATGCAGCCCGGG -3'

Sequencing Primer
(F):5'- TCTGCCACCACAGCAAGTTTG -3'
(R):5'- GCCCGGGCAGAATTTCAATC -3'
Posted On 2015-09-25