Incidental Mutation 'IGL02512:Cnga2'
ID296601
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnga2
Ensembl Gene ENSMUSG00000005864
Gene Namecyclic nucleotide gated channel alpha 2
SynonymsOCNC1, Cnca, Cncg4
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02512
Quality Score
Status
ChromosomeX
Chromosomal Location71991849-72010218 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 72008925 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 469 (V469I)
Ref Sequence ENSEMBL: ENSMUSP00000006020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006020]
Predicted Effect probably damaging
Transcript: ENSMUST00000006020
AA Change: V469I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000006020
Gene: ENSMUSG00000005864
AA Change: V469I

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
low complexity region 62 79 N/A INTRINSIC
low complexity region 113 129 N/A INTRINSIC
Pfam:Ion_trans 142 385 2.8e-30 PFAM
cNMP 456 580 4.54e-23 SMART
PDB:3SWY|C 599 642 2e-9 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a transmembrane protein that is a subunit of the nucleotide-gated olfactory ion channel. Knock out of this gene affects development of the olfactory epithelium and olfactory bulb. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality within 2 days of birth, growth retardation, and abnormal olfactory neuron response to forskolin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg10b C A 15: 90,227,549 H199N probably benign Het
Ankrd13a T A 5: 114,786,766 M104K probably benign Het
Ankrd37 A G 8: 45,999,288 L48P probably damaging Het
Ankzf1 T A 1: 75,192,578 L43M probably damaging Het
Ano10 A C 9: 122,272,474 V77G possibly damaging Het
Arg2 G A 12: 79,147,743 V114I probably benign Het
Asah1 A C 8: 41,360,307 probably benign Het
Clpx A C 9: 65,310,251 I34L probably benign Het
D230025D16Rik G A 8: 105,234,478 probably benign Het
Dock9 A T 14: 121,619,538 probably benign Het
Eaf1 A G 14: 31,497,786 T61A possibly damaging Het
Exoc3l T A 8: 105,290,483 D624V probably damaging Het
Fancd2 A G 6: 113,570,943 D927G probably damaging Het
Fbn1 A T 2: 125,338,460 Y1801N probably damaging Het
Garnl3 A G 2: 33,031,138 Y292H probably damaging Het
Gpr174 A T X: 107,292,971 K130* probably null Het
Greb1 C T 12: 16,692,712 V1379I possibly damaging Het
Grik2 A T 10: 49,355,912 D507E probably benign Het
Gsn A T 2: 35,283,950 K24* probably null Het
Ift80 A G 3: 68,927,725 probably null Het
Inpp5j T A 11: 3,499,661 Y707F probably damaging Het
Ints13 A T 6: 146,576,357 D31E probably damaging Het
Kcnh1 T C 1: 192,505,381 F717L possibly damaging Het
Klhdc8a T C 1: 132,303,157 probably null Het
Klkb1 G A 8: 45,276,240 probably benign Het
Krt16 A T 11: 100,246,336 probably benign Het
Msh6 T C 17: 87,984,732 V305A probably benign Het
Myo6 T A 9: 80,292,519 probably null Het
Nampt T A 12: 32,830,269 Y54N possibly damaging Het
Neurog2 G T 3: 127,633,855 E43* probably null Het
Obscn C T 11: 59,028,517 R6887H probably damaging Het
Olfr1124 A G 2: 87,435,058 I190M possibly damaging Het
Olfr209 T C 16: 59,361,808 N137D possibly damaging Het
Olfr772 A G 10: 129,174,250 I257T possibly damaging Het
Pdss1 A G 2: 22,912,646 I166V probably damaging Het
Ptpn21 T C 12: 98,679,392 T1096A probably benign Het
Reln A G 5: 22,040,427 Y728H probably benign Het
Sec31a T C 5: 100,407,193 D56G probably damaging Het
Shroom1 T A 11: 53,466,559 V683E probably damaging Het
Slc5a11 A G 7: 123,265,255 D358G probably damaging Het
Slfn3 T A 11: 83,213,025 S241T possibly damaging Het
Slitrk3 G A 3: 73,050,402 P346S probably benign Het
Specc1 T A 11: 62,118,389 S324T probably damaging Het
Sptlc3 T C 2: 139,547,203 Y168H probably damaging Het
St3gal6 C T 16: 58,473,459 E236K probably benign Het
Tet2 A T 3: 133,469,308 M1426K probably benign Het
Tinag A T 9: 77,031,787 probably benign Het
Tjp1 A G 7: 65,343,667 S53P probably damaging Het
Uimc1 T C 13: 55,040,618 T543A possibly damaging Het
Wdfy4 A G 14: 33,042,491 W2147R probably benign Het
Zmym1 C T 4: 127,048,672 C641Y probably damaging Het
Other mutations in Cnga2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02633:Cnga2 APN X 72005049 splice site probably benign
IGL03059:Cnga2 APN X 72008272 missense probably damaging 1.00
IGL03215:Cnga2 APN X 72009166 missense probably damaging 1.00
IGL03332:Cnga2 APN X 72006194 missense probably damaging 1.00
R2128:Cnga2 UTSW X 72007788 missense possibly damaging 0.95
R4486:Cnga2 UTSW X 72006127 missense possibly damaging 0.58
R4487:Cnga2 UTSW X 72006127 missense possibly damaging 0.58
R4489:Cnga2 UTSW X 72006127 missense possibly damaging 0.58
Posted On2015-04-16