Incidental Mutation 'IGL03025:Cnga1'
ID 408131
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnga1
Ensembl Gene ENSMUSG00000067220
Gene Name cyclic nucleotide gated channel alpha 1
Synonyms Cncg
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.310) question?
Stock # IGL03025
Quality Score
Status
Chromosome 5
Chromosomal Location 72761039-72800095 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72762756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 253 (I253F)
Ref Sequence ENSEMBL: ENSMUSP00000143881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087213] [ENSMUST00000169997] [ENSMUST00000201463]
AlphaFold P29974
Predicted Effect probably benign
Transcript: ENSMUST00000087213
AA Change: I253F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000084464
Gene: ENSMUSG00000067220
AA Change: I253F

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 benign
Transcript: ENSMUST00000169997
AA Change: I253F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132329
Gene: ENSMUSG00000067220
AA Change: I253F

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 benign
Transcript: ENSMUST00000201463
AA Change: I253F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143881
Gene: ENSMUSG00000067220
AA Change: I253F

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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,315,405 (GRCm39) N91S possibly damaging Het
Adora1 T C 1: 134,130,807 (GRCm39) Y288C probably damaging Het
Avil A T 10: 126,849,446 (GRCm39) T581S probably benign Het
Cacna1h C T 17: 25,651,868 (GRCm39) W92* probably null Het
Calr3 A C 8: 73,188,735 (GRCm39) probably benign Het
Cdan1 T C 2: 120,561,222 (GRCm39) E181G probably damaging Het
Clca4a T C 3: 144,663,079 (GRCm39) N590S probably benign Het
Cngb3 T G 4: 19,283,498 (GRCm39) probably benign Het
Cstf3 T A 2: 104,439,276 (GRCm39) Y30N possibly damaging Het
Cyp2a12 T A 7: 26,730,631 (GRCm39) S199T probably benign Het
Dlg1 A G 16: 31,624,545 (GRCm39) I412V probably benign Het
Fasn C T 11: 120,708,974 (GRCm39) V570M probably benign Het
Fhit A G 14: 10,421,534 (GRCm38) S85P probably damaging Het
Frmd5 T A 2: 121,383,825 (GRCm39) M369L probably benign Het
Ftdc2 A C 16: 58,458,076 (GRCm39) I75S probably damaging Het
Gatb T C 3: 85,483,181 (GRCm39) W63R probably damaging Het
Gga1 G T 15: 78,772,382 (GRCm39) L227F probably damaging Het
Itgb1 A G 8: 129,449,065 (GRCm39) N557S possibly damaging Het
Ltf T C 9: 110,854,169 (GRCm39) V328A possibly damaging Het
Nefh T C 11: 4,895,289 (GRCm39) E300G probably damaging Het
Nrip1 A G 16: 76,091,353 (GRCm39) V68A probably benign Het
Or1m1 T C 9: 18,666,665 (GRCm39) N89D probably benign Het
Pcdhb13 T G 18: 37,575,817 (GRCm39) V65G probably damaging Het
Pcdhb4 A T 18: 37,443,030 (GRCm39) Y780F possibly damaging Het
Plcd3 C T 11: 102,965,724 (GRCm39) E503K probably benign Het
Rbm6 T A 9: 107,651,918 (GRCm39) D903V possibly damaging Het
Rnf133 A G 6: 23,649,134 (GRCm39) M265T probably benign Het
Sbf1 T C 15: 89,173,848 (GRCm39) T1775A probably damaging Het
Serpina1f T A 12: 103,659,805 (GRCm39) D159V probably damaging Het
Skap1 C A 11: 96,593,508 (GRCm39) S118R probably damaging Het
Slc17a9 C A 2: 180,381,609 (GRCm39) probably null Het
Slc30a5 A G 13: 100,950,395 (GRCm39) S231P probably damaging Het
Stac2 A G 11: 97,934,548 (GRCm39) F52S probably damaging Het
Them7 T C 2: 105,128,150 (GRCm39) S44P probably benign Het
Tnmd A G X: 132,766,162 (GRCm39) probably benign Het
Trdmt1 A T 2: 13,528,246 (GRCm39) I105N probably damaging Het
Trpc1 C T 9: 95,592,313 (GRCm39) G554E probably damaging Het
Vmn1r37 A G 6: 66,708,740 (GRCm39) Y85C probably benign Het
Zim1 T C 7: 6,685,058 (GRCm39) T131A 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
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
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
Posted On 2016-08-02