Incidental Mutation 'R5754:Cnga1'
ID 444944
Institutional Source Beutler Lab
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 # R5754 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 72761039-72800095 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72762615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 300 (V300I)
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: V300I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000084464
Gene: ENSMUSG00000067220
AA Change: V300I

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: V300I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132329
Gene: ENSMUSG00000067220
AA Change: V300I

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: V300I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143881
Gene: ENSMUSG00000067220
AA Change: V300I

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 0.1786 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 98% (61/62)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,984,320 (GRCm39) N683K probably benign Het
Atad2b T A 12: 5,060,351 (GRCm39) H915Q probably benign Het
Bltp2 T C 11: 78,160,367 (GRCm39) S609P probably damaging Het
Camk1d G T 2: 5,449,908 (GRCm39) P91Q probably benign Het
Camk1d G C 2: 5,449,910 (GRCm39) S90R probably damaging Het
Card11 T C 5: 140,885,524 (GRCm39) E345G probably damaging Het
Ccpg1 G T 9: 72,920,526 (GRCm39) V714L possibly damaging Het
Chst9 T C 18: 15,586,254 (GRCm39) E103G possibly damaging Het
Crb1 T C 1: 139,159,337 (GRCm39) Y1295C probably damaging Het
Dnah5 A G 15: 28,402,014 (GRCm39) T3392A probably benign Het
Elp3 C A 14: 65,785,439 (GRCm39) R473L probably damaging Het
Epgn T A 5: 91,181,807 (GRCm39) I145N probably benign Het
Fam107b G A 2: 3,779,457 (GRCm39) G220D probably damaging Het
Fbn2 A G 18: 58,257,383 (GRCm39) V328A probably benign Het
Fn1 A T 1: 71,639,481 (GRCm39) I1770N probably damaging Het
Fndc1 T A 17: 7,988,585 (GRCm39) Y1159F unknown Het
Frem2 A G 3: 53,444,679 (GRCm39) L2484P probably damaging Het
Grk2 C T 19: 4,340,496 (GRCm39) R295H probably damaging Het
Gtf3c1 A T 7: 125,243,237 (GRCm39) V1789D possibly damaging Het
Hmgcl T C 4: 135,677,898 (GRCm39) V33A probably damaging Het
Ighv7-1 A G 12: 113,860,239 (GRCm39) F51S probably damaging Het
Kcna6 A G 6: 126,716,688 (GRCm39) L67P probably damaging Het
Lamc1 A T 1: 153,123,030 (GRCm39) V720E probably benign Het
Lrch1 T C 14: 75,054,558 (GRCm39) D312G probably damaging Het
Mix23 A G 16: 35,905,427 (GRCm39) N63S probably benign Het
Nav2 A G 7: 49,206,794 (GRCm39) T1540A probably damaging Het
Nisch A T 14: 30,913,373 (GRCm39) probably benign Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Npc1l1 A G 11: 6,177,839 (GRCm39) Y524H probably damaging Het
Nrap T C 19: 56,377,916 (GRCm39) T25A possibly damaging Het
Nusap1 A G 2: 119,477,580 (GRCm39) K363R probably damaging Het
Or5ar1 T C 2: 85,671,656 (GRCm39) T160A probably damaging Het
Or5b124 A G 19: 13,611,357 (GRCm39) E294G probably damaging Het
Or7e177 T A 9: 20,212,390 (GRCm39) L298Q probably damaging Het
Pde4d T C 13: 110,074,547 (GRCm39) I384T probably damaging Het
Pkhd1 T A 1: 20,593,875 (GRCm39) R1413* probably null Het
Plcd3 T A 11: 102,964,592 (GRCm39) Y593F possibly damaging Het
Plxna1 A T 6: 89,310,087 (GRCm39) I1026N possibly damaging Het
Podxl T A 6: 31,501,329 (GRCm39) I409F probably damaging Het
Polq A C 16: 36,837,625 (GRCm39) Q179P probably benign Het
Pomt1 T C 2: 32,137,602 (GRCm39) V401A probably damaging Het
Qdpr C T 5: 45,596,727 (GRCm39) G146S probably damaging Het
Shc4 T A 2: 125,512,218 (GRCm39) Q2L probably damaging Het
Skint8 T A 4: 111,807,387 (GRCm39) C358S probably benign Het
Smc5 T C 19: 23,221,467 (GRCm39) E354G possibly damaging Het
Snx30 T C 4: 59,868,275 (GRCm39) V129A probably damaging Het
Sp110 G C 1: 85,504,923 (GRCm39) probably benign Het
Spag6 T A 2: 18,703,613 (GRCm39) probably benign Het
Trim28 T A 7: 12,763,036 (GRCm39) Y450N probably benign Het
Trip11 C T 12: 101,851,924 (GRCm39) W428* probably null Het
Umodl1 T A 17: 31,213,761 (GRCm39) V966E probably damaging Het
Utf1 A G 7: 139,524,704 (GRCm39) probably benign Het
Vmn1r72 T C 7: 11,403,776 (GRCm39) Y224C probably damaging Het
Whrn A G 4: 63,334,825 (GRCm39) S748P probably damaging Het
Zbtb41 T A 1: 139,359,816 (GRCm39) probably null Het
Zfhx3 T C 8: 109,526,964 (GRCm39) F954L probably damaging Het
Zfp456 A T 13: 67,514,359 (GRCm39) I449K 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
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
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'- TGGTGGCGAAAATTAAAACTCC -3'
(R):5'- CAGTGATACCGACCGATCTG -3'

Sequencing Primer
(F):5'- TGTACTCAGAATCCAGCACGGG -3'
(R):5'- GACCGATCTGCTGTACATCAAGTTTG -3'
Posted On 2016-11-21