Incidental Mutation 'IGL01418:Cnga4'
ID278477
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnga4
Ensembl Gene ENSMUSG00000030897
Gene Namecyclic nucleotide gated channel alpha 4
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL01418
Quality Score
Status
Chromosome7
Chromosomal Location105404568-105408742 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 105404962 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 46 (M46L)
Ref Sequence ENSEMBL: ENSMUSP00000033187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033187] [ENSMUST00000048079] [ENSMUST00000074686] [ENSMUST00000118726] [ENSMUST00000122327] [ENSMUST00000137158] [ENSMUST00000179474] [ENSMUST00000210344]
Predicted Effect probably benign
Transcript: ENSMUST00000033187
AA Change: M46L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033187
Gene: ENSMUSG00000030897
AA Change: M46L

DomainStartEndE-ValueType
Pfam:Ion_trans 34 276 1.1e-28 PFAM
cNMP 348 472 1.54e-25 SMART
low complexity region 500 508 N/A INTRINSIC
low complexity region 514 523 N/A INTRINSIC
low complexity region 540 557 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000048079
SMART Domains Protein: ENSMUSP00000045084
Gene: ENSMUSG00000044465

DomainStartEndE-ValueType
Pfam:RAI16-like 96 426 2.8e-99 PFAM
low complexity region 482 501 N/A INTRINSIC
low complexity region 527 544 N/A INTRINSIC
low complexity region 697 710 N/A INTRINSIC
low complexity region 718 730 N/A INTRINSIC
low complexity region 891 906 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074686
SMART Domains Protein: ENSMUSP00000074252
Gene: ENSMUSG00000044465

DomainStartEndE-ValueType
Pfam:RAI16-like 96 426 4.4e-100 PFAM
low complexity region 482 501 N/A INTRINSIC
low complexity region 527 544 N/A INTRINSIC
low complexity region 697 710 N/A INTRINSIC
low complexity region 718 730 N/A INTRINSIC
low complexity region 825 840 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118726
SMART Domains Protein: ENSMUSP00000112605
Gene: ENSMUSG00000044465

DomainStartEndE-ValueType
Pfam:RAI16-like 96 426 1.8e-99 PFAM
low complexity region 496 515 N/A INTRINSIC
low complexity region 541 558 N/A INTRINSIC
low complexity region 707 722 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122327
SMART Domains Protein: ENSMUSP00000112711
Gene: ENSMUSG00000044465

DomainStartEndE-ValueType
Pfam:RAI16-like 96 426 5.6e-98 PFAM
low complexity region 482 501 N/A INTRINSIC
low complexity region 527 544 N/A INTRINSIC
low complexity region 697 710 N/A INTRINSIC
low complexity region 718 730 N/A INTRINSIC
low complexity region 891 906 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137158
SMART Domains Protein: ENSMUSP00000119184
Gene: ENSMUSG00000044465

DomainStartEndE-ValueType
Pfam:RAI16-like 96 259 7.2e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179474
SMART Domains Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465

DomainStartEndE-ValueType
Pfam:RAI16-like 96 426 4.2e-98 PFAM
low complexity region 496 515 N/A INTRINSIC
low complexity region 541 558 N/A INTRINSIC
low complexity region 711 724 N/A INTRINSIC
low complexity region 732 744 N/A INTRINSIC
low complexity region 905 920 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210341
Predicted Effect probably benign
Transcript: ENSMUST00000210344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211131
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211520
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CNGA4 is a modulatory subunit of vertebrate cyclic nucleotide-gated membrane channels that transduce odorant signals (Munger et al., 2001 [PubMed 11739959]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Inactivation of this gene results in odor adaptation defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 T A 14: 68,525,206 H190L probably benign Het
Apoo-ps T A 13: 107,414,532 noncoding transcript Het
Asic1 T A 15: 99,672,117 N106K probably damaging Het
Ceacam5 G A 7: 17,745,599 A214T probably damaging Het
Cfap221 T A 1: 119,985,071 H91L possibly damaging Het
Ctcfl T C 2: 173,118,331 E153G probably benign Het
Cubn C T 2: 13,284,041 V3374I probably benign Het
Cyb561a3 T A 19: 10,585,246 H83Q probably damaging Het
Dnah11 C T 12: 117,987,482 W1126* probably null Het
E130311K13Rik A C 3: 63,920,262 L141R possibly damaging Het
Ercc5 A G 1: 44,167,280 K451R probably benign Het
Fbxo34 T A 14: 47,530,784 C585S possibly damaging Het
Gm13088 A T 4: 143,655,317 F270I probably benign Het
Hoxc9 T A 15: 102,984,000 M215K probably damaging Het
Ifi214 T A 1: 173,529,429 N36I probably damaging Het
Il17ra A G 6: 120,475,581 N242D probably benign Het
Itpr1 T A 6: 108,339,624 probably null Het
Lactb T C 9: 66,967,763 D349G possibly damaging Het
Lrp2 C T 2: 69,525,286 V405I probably benign Het
Map1b A T 13: 99,431,830 I1461K unknown Het
Mdh2 T A 5: 135,786,025 I116N probably damaging Het
Nek5 A C 8: 22,095,269 I364S probably damaging Het
Nr2c1 A T 10: 94,190,690 M476L probably damaging Het
Olfr1152 T C 2: 87,868,465 V158A probably benign Het
Olfr1290 T C 2: 111,489,639 E173G probably benign Het
Olfr412 T C 11: 74,364,984 V105A possibly damaging Het
Olfr418 T A 1: 173,270,708 C178S probably damaging Het
Pcdhb8 A G 18: 37,355,976 N236D probably damaging Het
Phf10 C A 17: 14,945,134 V487L probably benign Het
Ptpn3 G A 4: 57,270,156 T2I probably damaging Het
Rbl1 T C 2: 157,152,892 probably null Het
Slc24a3 A G 2: 145,640,249 D609G probably damaging Het
Slc25a40 A C 5: 8,453,298 *338Y probably null Het
Slc5a8 G T 10: 88,905,033 C270F probably damaging Het
Slfn8 T C 11: 83,004,636 D448G probably damaging Het
Tmem87a T C 2: 120,385,870 T180A probably benign Het
Trim30c A G 7: 104,382,334 S425P possibly damaging Het
Ubap1 A T 4: 41,387,333 R414S probably benign Het
Vipas39 G A 12: 87,249,397 T274I probably benign Het
Zfp507 T A 7: 35,793,812 probably null Het
Other mutations in Cnga4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Cnga4 APN 7 105404962 missense probably benign
IGL02450:Cnga4 APN 7 105405748 missense probably damaging 1.00
IGL02533:Cnga4 APN 7 105407961 missense probably damaging 0.97
IGL03052:Cnga4 UTSW 7 105404725 missense probably benign 0.21
R0020:Cnga4 UTSW 7 105405677 missense probably damaging 1.00
R0135:Cnga4 UTSW 7 105406848 missense probably damaging 1.00
R0281:Cnga4 UTSW 7 105407668 missense probably damaging 1.00
R0506:Cnga4 UTSW 7 105407740 missense probably damaging 1.00
R0599:Cnga4 UTSW 7 105405818 missense probably damaging 1.00
R0646:Cnga4 UTSW 7 105404975 missense possibly damaging 0.47
R0980:Cnga4 UTSW 7 105408006 missense probably damaging 1.00
R1727:Cnga4 UTSW 7 105405754 missense probably damaging 1.00
R3415:Cnga4 UTSW 7 105407118 missense probably damaging 1.00
R3768:Cnga4 UTSW 7 105407680 missense probably damaging 1.00
R4559:Cnga4 UTSW 7 105405685 missense probably damaging 1.00
R4852:Cnga4 UTSW 7 105405730 missense probably benign 0.01
R5081:Cnga4 UTSW 7 105407025 missense probably benign 0.20
R6232:Cnga4 UTSW 7 105407699 nonsense probably null
R6234:Cnga4 UTSW 7 105407699 nonsense probably null
R6235:Cnga4 UTSW 7 105407699 nonsense probably null
R6824:Cnga4 UTSW 7 105406829 missense probably benign
R6866:Cnga4 UTSW 7 105407745 missense possibly damaging 0.95
R6997:Cnga4 UTSW 7 105406983 missense probably damaging 1.00
R7019:Cnga4 UTSW 7 105405829 missense probably benign 0.00
R7273:Cnga4 UTSW 7 105406965 missense probably damaging 1.00
R7509:Cnga4 UTSW 7 105406890 missense probably benign 0.32
R7522:Cnga4 UTSW 7 105405988 missense probably damaging 0.99
R7545:Cnga4 UTSW 7 105407079 missense probably damaging 1.00
R7873:Cnga4 UTSW 7 105407042 missense probably damaging 0.99
R7956:Cnga4 UTSW 7 105407042 missense probably damaging 0.99
R8024:Cnga4 UTSW 7 105406835 missense probably damaging 1.00
X0025:Cnga4 UTSW 7 105405220 missense probably damaging 0.99
Posted On2015-04-16