Incidental Mutation 'IGL03059:Cnga2'
ID409360
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 #IGL03059
Quality Score
Status
ChromosomeX
Chromosomal Location71991849-72010218 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 72008272 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 251 (R251H)
Ref Sequence ENSEMBL: ENSMUSP00000006020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006020]
Predicted Effect probably damaging
Transcript: ENSMUST00000006020
AA Change: R251H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006020
Gene: ENSMUSG00000005864
AA Change: R251H

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg T C 16: 22,899,005 V244A possibly damaging Het
Ccdc187 C A 2: 26,294,241 R48M probably null Het
Cop1 A C 1: 159,306,709 K174Q probably damaging Het
Cul9 T C 17: 46,538,987 D512G probably damaging Het
Flt4 G A 11: 49,642,307 A1140T probably damaging Het
Galnt3 C T 2: 66,093,610 R438H probably damaging Het
Gatm G A 2: 122,609,700 A86V probably damaging Het
Klhl28 C T 12: 64,951,566 A385T probably benign Het
Klhl40 T A 9: 121,778,137 V121E probably damaging Het
L1cam T A X: 73,867,024 H30L probably benign Het
Lss A T 10: 76,532,026 probably benign Het
Mrnip A T 11: 50,199,769 Q253H probably damaging Het
Mroh9 A T 1: 163,024,636 F828Y possibly damaging Het
Mst1 T C 9: 108,084,813 C668R probably damaging Het
Nadk A G 4: 155,586,796 E143G probably benign Het
Nap1l4 C T 7: 143,527,165 probably null Het
Nme8 A G 13: 19,652,244 I254T possibly damaging Het
Olfr1382 A G 11: 49,535,194 Y3C probably benign Het
Olfr295 A G 7: 86,585,571 I99V probably benign Het
Olfr374 T A 8: 72,109,998 L144Q probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pkd1l3 C T 8: 109,648,367 L1491F probably damaging Het
Plec G T 15: 76,175,768 T3488N probably damaging Het
Plk2 T G 13: 110,399,134 S497A probably benign Het
Polr1a G A 6: 71,936,512 V617I probably benign Het
Prelid3a C A 18: 67,476,839 Y112* probably null Het
Rnf113a2 C A 12: 84,417,476 S47R possibly damaging Het
Rtel1 A G 2: 181,350,183 N410D probably benign Het
Ryr3 C T 2: 112,800,047 A2140T probably damaging Het
Slc22a29 A G 19: 8,169,990 L336P probably benign Het
Sphkap T A 1: 83,257,242 Q1621L probably damaging Het
Svs1 A T 6: 48,987,415 Y119F probably benign Het
Tcrg-C1 A T 13: 19,215,902 K123* probably null Het
Ttn T A 2: 76,909,519 S3559C probably benign Het
Ubr4 C T 4: 139,480,676 R4923W probably damaging Het
Vac14 T C 8: 110,710,452 L599P probably damaging Het
Wdr5 T C 2: 27,519,734 probably benign Het
Other mutations in Cnga2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02512:Cnga2 APN X 72008925 missense probably damaging 1.00
IGL02633:Cnga2 APN X 72005049 splice site probably benign
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 On2016-08-02