Incidental Mutation 'R5229:Cnga1'
ID 403652
Institutional Source Beutler Lab
Gene Symbol Cnga1
Ensembl Gene ENSMUSG00000067220
Gene Name cyclic nucleotide gated channel alpha 1
Synonyms Cncg
MMRRC Submission 042802-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.310) question?
Stock # R5229 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 72761039-72800095 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72766843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 199 (S199P)
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: S199P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000084464
Gene: ENSMUSG00000067220
AA Change: S199P

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: S199P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132329
Gene: ENSMUSG00000067220
AA Change: S199P

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: S199P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143881
Gene: ENSMUSG00000067220
AA Change: S199P

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
Meta Mutation Damage Score 0.8766 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (62/63)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444P10Rik T C 1: 16,151,183 (GRCm39) probably benign Het
4930562C15Rik A G 16: 4,667,915 (GRCm39) I435M possibly damaging Het
Adcy5 A G 16: 35,089,440 (GRCm39) I546V probably damaging Het
Apob A G 12: 8,027,806 (GRCm39) T10A probably benign Het
Brwd1 C A 16: 95,803,409 (GRCm39) D2254Y possibly damaging Het
Bub1b C A 2: 118,460,470 (GRCm39) D600E probably damaging Het
Cyp3a11 G T 5: 145,791,945 (GRCm39) L483I probably benign Het
Depp1 T C 6: 116,628,992 (GRCm39) S112P possibly damaging Het
Dpysl3 C A 18: 43,466,016 (GRCm39) G457V probably damaging Het
Eif4g3 C A 4: 137,824,105 (GRCm39) P36T possibly damaging Het
Epb41 C A 4: 131,706,246 (GRCm39) G415C probably damaging Het
Erap1 G A 13: 74,808,494 (GRCm39) V69M possibly damaging Het
F2 A T 2: 91,460,586 (GRCm39) Y301* probably null Het
F2rl2 A T 13: 95,837,195 (GRCm39) N80I possibly damaging Het
Fam237b A T 5: 5,625,565 (GRCm39) Y87F possibly damaging Het
Gm15446 T G 5: 110,091,036 (GRCm39) H429Q probably damaging Het
Gpat3 G A 5: 101,031,290 (GRCm39) G148D probably damaging Het
Gpr26 A T 7: 131,585,976 (GRCm39) R315S probably damaging Het
Hdac9 A C 12: 34,487,163 (GRCm39) H100Q probably damaging Het
Heatr5a A T 12: 51,994,761 (GRCm39) V457D probably benign Het
Igkv10-96 A G 6: 68,609,223 (GRCm39) M24T possibly damaging Het
Igkv2-95-2 A G 6: 68,625,095 (GRCm39) noncoding transcript Het
Kdm4a G A 4: 118,003,802 (GRCm39) S758F probably damaging Het
Lrg1 A G 17: 56,427,154 (GRCm39) W273R probably damaging Het
Man2a1 A T 17: 65,017,729 (GRCm39) Q658H probably benign Het
Mapkapk5 T C 5: 121,671,454 (GRCm39) probably null Het
Mcm6 T C 1: 128,261,321 (GRCm39) D761G possibly damaging Het
Myh8 A T 11: 67,175,310 (GRCm39) Y286F probably damaging Het
Nbn C T 4: 15,963,893 (GRCm39) T98I probably damaging Het
Nrdc T C 4: 108,906,305 (GRCm39) S685P probably damaging Het
Nudcd3 A G 11: 6,143,238 (GRCm39) V80A probably benign Het
Or10al5 A G 17: 38,063,192 (GRCm39) H149R probably benign Het
Or5p54 A G 7: 107,554,376 (GRCm39) H176R probably damaging Het
Pdcd6ip A T 9: 113,507,401 (GRCm39) M390K probably damaging Het
Pon1 C T 6: 5,177,295 (GRCm39) V205I possibly damaging Het
Ppp4r2 C A 6: 100,842,176 (GRCm39) H212Q probably benign Het
Pramel32 T C 4: 88,548,372 (GRCm39) D11G possibly damaging Het
Prl2c5 G A 13: 13,360,441 (GRCm39) C33Y probably damaging Het
Rbak A G 5: 143,159,917 (GRCm39) F379L probably damaging Het
Rcc2 G A 4: 140,444,340 (GRCm39) D344N probably damaging Het
Rgs3 T C 4: 62,620,424 (GRCm39) L550P probably damaging Het
Rnasek A T 11: 70,130,486 (GRCm39) M25K probably damaging Het
Scgb1b24 A T 7: 33,443,520 (GRCm39) T60S possibly damaging Het
Scn5a A G 9: 119,365,042 (GRCm39) F392S probably damaging Het
Scpep1 A T 11: 88,827,871 (GRCm39) V209E probably damaging Het
Slc35g1 A G 19: 38,391,080 (GRCm39) probably null Het
Sorbs1 A G 19: 40,329,151 (GRCm39) I554T probably damaging Het
Spats1 A G 17: 45,777,059 (GRCm39) probably benign Het
Tdp1 A G 12: 99,859,919 (GRCm39) Q202R probably damaging Het
Trav6-5 T G 14: 53,729,045 (GRCm39) S102A probably damaging Het
Tspan2 T C 3: 102,676,215 (GRCm39) M208T probably damaging Het
Ube4b A G 4: 149,471,635 (GRCm39) S84P probably damaging Het
Vmn1r237 C A 17: 21,534,633 (GRCm39) Q119K probably benign Het
Vmn2r125 C T 4: 156,703,333 (GRCm39) T237I probably benign Het
Zfp65 A T 13: 67,856,929 (GRCm39) S117T probably benign 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
R4615:Cnga1 UTSW 5 72,762,117 (GRCm39) missense probably damaging 1.00
R4946:Cnga1 UTSW 5 72,762,107 (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'- CTTCCTGGATCAGCAGGAATG -3'
(R):5'- TCTTACAGACCTCGCTAACTTTAG -3'

Sequencing Primer
(F):5'- GCCAATGAGTAAGACCATGTTAC -3'
(R):5'- CCAAGTAGTCTCCATGTCT -3'
Posted On 2016-07-22