Incidental Mutation 'IGL03025:Cnga1'
ID408131
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnga1
Ensembl Gene ENSMUSG00000067220
Gene Namecyclic nucleotide gated channel alpha 1
SynonymsCncg
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.291) question?
Stock #IGL03025
Quality Score
Status
Chromosome5
Chromosomal Location72603696-72644275 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 72605413 bp
ZygosityHeterozygous
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]
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: 151,473,485 N91S possibly damaging Het
Adora1 T C 1: 134,203,069 Y288C probably damaging Het
Avil A T 10: 127,013,577 T581S probably benign Het
Cacna1h C T 17: 25,432,894 W92* probably null Het
Calr3 A C 8: 72,434,891 probably benign Het
Cdan1 T C 2: 120,730,741 E181G probably damaging Het
Clca4a T C 3: 144,957,318 N590S probably benign Het
Cngb3 T G 4: 19,283,498 probably benign Het
Cstf3 T A 2: 104,608,931 Y30N possibly damaging Het
Cyp2a12 T A 7: 27,031,206 S199T probably benign Het
Dlg1 A G 16: 31,805,727 I412V probably benign Het
E330017A01Rik A C 16: 58,637,713 I75S probably damaging Het
Fasn C T 11: 120,818,148 V570M probably benign Het
Fhit A G 14: 10,421,534 S85P probably damaging Het
Frmd5 T A 2: 121,553,344 M369L probably benign Het
Gatb T C 3: 85,575,874 W63R probably damaging Het
Gga1 G T 15: 78,888,182 L227F probably damaging Het
Itgb1 A G 8: 128,722,584 N557S possibly damaging Het
Ltf T C 9: 111,025,101 V328A possibly damaging Het
Nefh T C 11: 4,945,289 E300G probably damaging Het
Nrip1 A G 16: 76,294,465 V68A probably benign Het
Olfr24 T C 9: 18,755,369 N89D probably benign Het
Pcdhb13 T G 18: 37,442,764 V65G probably damaging Het
Pcdhb4 A T 18: 37,309,977 Y780F possibly damaging Het
Plcd3 C T 11: 103,074,898 E503K probably benign Het
Rbm6 T A 9: 107,774,719 D903V possibly damaging Het
Rnf133 A G 6: 23,649,135 M265T probably benign Het
Sbf1 T C 15: 89,289,645 T1775A probably damaging Het
Serpina1f T A 12: 103,693,546 D159V probably damaging Het
Skap1 C A 11: 96,702,682 S118R probably damaging Het
Slc17a9 C A 2: 180,739,816 probably null Het
Slc30a5 A G 13: 100,813,887 S231P probably damaging Het
Stac2 A G 11: 98,043,722 F52S probably damaging Het
Them7 T C 2: 105,297,805 S44P probably benign Het
Tnmd A G X: 133,865,413 probably benign Het
Trdmt1 A T 2: 13,523,435 I105N probably damaging Het
Trpc1 C T 9: 95,710,260 G554E probably damaging Het
Vmn1r37 A G 6: 66,731,756 Y85C probably benign Het
Zim1 T C 7: 6,682,059 T131A probably benign Het
Other mutations in Cnga1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02332:Cnga1 APN 5 72604486 missense probably damaging 1.00
IGL02345:Cnga1 APN 5 72605272 missense probably benign 0.00
IGL02354:Cnga1 APN 5 72616718 splice site probably null
IGL02361:Cnga1 APN 5 72616718 splice site probably null
IGL03257:Cnga1 APN 5 72610862 missense probably damaging 1.00
IGL03046:Cnga1 UTSW 5 72604338 missense probably benign 0.01
R0238:Cnga1 UTSW 5 72605031 missense probably damaging 0.97
R0238:Cnga1 UTSW 5 72605031 missense probably damaging 0.97
R0352:Cnga1 UTSW 5 72604503 missense possibly damaging 0.95
R1292:Cnga1 UTSW 5 72604683 missense probably damaging 1.00
R1386:Cnga1 UTSW 5 72612183 nonsense probably null
R1903:Cnga1 UTSW 5 72616725 missense possibly damaging 0.94
R2096:Cnga1 UTSW 5 72619061 missense possibly damaging 0.85
R2097:Cnga1 UTSW 5 72619061 missense possibly damaging 0.85
R2101:Cnga1 UTSW 5 72619061 missense possibly damaging 0.85
R2276:Cnga1 UTSW 5 72619061 missense possibly damaging 0.85
R2279:Cnga1 UTSW 5 72619061 missense possibly damaging 0.85
R2507:Cnga1 UTSW 5 72619061 missense possibly damaging 0.85
R2508:Cnga1 UTSW 5 72619061 missense possibly damaging 0.85
R3005:Cnga1 UTSW 5 72605107 missense probably damaging 1.00
R3779:Cnga1 UTSW 5 72604783 missense probably damaging 1.00
R4357:Cnga1 UTSW 5 72618252 missense probably damaging 1.00
R4399:Cnga1 UTSW 5 72604381 missense probably damaging 0.98
R4615:Cnga1 UTSW 5 72604774 missense probably damaging 1.00
R4946:Cnga1 UTSW 5 72604764 missense probably damaging 1.00
R5229:Cnga1 UTSW 5 72609500 missense probably damaging 1.00
R5474:Cnga1 UTSW 5 72605193 missense probably damaging 1.00
R5566:Cnga1 UTSW 5 72618250 missense probably damaging 0.98
R5754:Cnga1 UTSW 5 72605272 missense probably benign 0.00
R5899:Cnga1 UTSW 5 72619061 missense possibly damaging 0.85
R5906:Cnga1 UTSW 5 72610858 missense probably benign 0.19
R5954:Cnga1 UTSW 5 72604878 missense probably damaging 0.99
R5997:Cnga1 UTSW 5 72604575 missense probably damaging 0.98
R6087:Cnga1 UTSW 5 72610812 missense probably damaging 1.00
R6365:Cnga1 UTSW 5 72604945 missense probably benign 0.00
R6391:Cnga1 UTSW 5 72612359 critical splice donor site probably null
R6525:Cnga1 UTSW 5 72618231 missense probably damaging 1.00
R7046:Cnga1 UTSW 5 72629353 intron probably benign
R7229:Cnga1 UTSW 5 72618249 missense probably benign
R7299:Cnga1 UTSW 5 72605432 missense probably benign 0.20
R7367:Cnga1 UTSW 5 72605358 missense possibly damaging 0.75
R7425:Cnga1 UTSW 5 72609525 missense probably benign 0.12
R7449:Cnga1 UTSW 5 72605304 missense probably benign 0.29
R7538:Cnga1 UTSW 5 72612380 missense probably benign 0.24
X0062:Cnga1 UTSW 5 72604485 missense probably damaging 1.00
Posted On2016-08-02