Incidental Mutation 'IGL02483:Car6'
ID 295315
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car6
Ensembl Gene ENSMUSG00000028972
Gene Name carbonic anhydrase 6
Synonyms DOC1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02483
Quality Score
Status
Chromosome 4
Chromosomal Location 150271472-150285592 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 150280586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 86 (N86I)
Ref Sequence ENSEMBL: ENSMUSP00000101308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030817] [ENSMUST00000105683]
AlphaFold P18761
Predicted Effect probably damaging
Transcript: ENSMUST00000030817
AA Change: N142I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030817
Gene: ENSMUSG00000028972
AA Change: N142I

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Carb_anhydrase 21 277 4.31e-106 SMART
low complexity region 295 309 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105683
AA Change: N86I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101308
Gene: ENSMUSG00000028972
AA Change: N86I

DomainStartEndE-ValueType
Carb_anhydrase 1 221 3.55e-75 SMART
low complexity region 239 253 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134648
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 one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increase in the number of lymphoid follicles in Peyer's patches. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T G 8: 84,451,882 (GRCm39) I512L probably damaging Het
Ahnak C A 19: 8,980,672 (GRCm39) T652N probably benign Het
Akr1b8 G A 6: 34,340,729 (GRCm39) A209T probably damaging Het
Arnt2 T A 7: 83,900,605 (GRCm39) H659L probably damaging Het
Cad A G 5: 31,218,170 (GRCm39) probably null Het
Cfap57 T A 4: 118,438,302 (GRCm39) E863V probably damaging Het
Cyp2c39 T A 19: 39,525,231 (GRCm39) I178N probably damaging Het
Cysltr1 C A X: 105,621,728 (GRCm39) V253L probably damaging Het
Dgcr6 G A 16: 17,883,038 (GRCm39) A6T possibly damaging Het
Dis3l T C 9: 64,226,362 (GRCm39) probably null Het
Erc2 T A 14: 27,375,028 (GRCm39) L82Q probably damaging Het
Ercc6l T C X: 101,188,275 (GRCm39) T745A probably benign Het
Fmo4 A G 1: 162,635,990 (GRCm39) V54A possibly damaging Het
Foxd3 C T 4: 99,545,265 (GRCm39) S135F probably damaging Het
Fut7 T A 2: 25,313,888 (GRCm39) F21Y possibly damaging Het
Gata4 T C 14: 63,437,910 (GRCm39) T414A probably benign Het
Gm4950 A T 18: 51,998,406 (GRCm39) M183K probably damaging Het
Gmps A G 3: 63,921,773 (GRCm39) D592G probably damaging Het
Hpd A T 5: 123,320,641 (GRCm39) probably null Het
Imp4 T C 1: 34,483,356 (GRCm39) probably null Het
Itgbl1 A T 14: 124,065,155 (GRCm39) probably benign Het
Kcnt2 T C 1: 140,282,299 (GRCm39) probably benign Het
Kdr C T 5: 76,096,954 (GRCm39) probably null Het
Lca5 A T 9: 83,305,170 (GRCm39) I212N probably damaging Het
Lgr6 T C 1: 134,929,429 (GRCm39) probably benign Het
Lrrc28 T C 7: 67,267,731 (GRCm39) probably benign Het
Madd T G 2: 91,008,381 (GRCm39) T174P probably damaging Het
Map3k8 A G 18: 4,349,318 (GRCm39) probably benign Het
Mcm3 A G 1: 20,873,796 (GRCm39) S775P possibly damaging Het
Myh10 G A 11: 68,692,994 (GRCm39) A1393T probably benign Het
Nbas C T 12: 13,374,295 (GRCm39) A541V probably damaging Het
Nbeal2 G A 9: 110,455,063 (GRCm39) Q2578* probably null Het
Nlrp4f T A 13: 65,342,548 (GRCm39) T366S probably benign Het
Oma1 C T 4: 103,182,309 (GRCm39) R271* probably null Het
Or10ak12 C T 4: 118,666,696 (GRCm39) V122M probably benign Het
Or2g25 A G 17: 37,970,363 (GRCm39) L287P probably damaging Het
Or4c111 G T 2: 88,843,547 (GRCm39) T287N probably damaging Het
Plekhh2 T C 17: 84,903,688 (GRCm39) F1058S possibly damaging Het
Psen2 T A 1: 180,062,626 (GRCm39) M239L probably damaging Het
Psme3ip1 A G 8: 95,315,394 (GRCm39) probably benign Het
Rad50 A G 11: 53,570,876 (GRCm39) I794T probably benign Het
Rgs12 A G 5: 35,187,861 (GRCm39) E506G probably damaging Het
Rnpepl1 C T 1: 92,843,629 (GRCm39) P250S probably damaging Het
Sfr1 G A 19: 47,721,227 (GRCm39) probably benign Het
Skic8 T C 9: 54,635,545 (GRCm39) I19V probably damaging Het
Tmem184a T C 5: 139,798,832 (GRCm39) E39G probably benign Het
Trim66 C T 7: 109,076,837 (GRCm39) probably benign Het
Ugt2b35 A G 5: 87,149,004 (GRCm39) Y85C possibly damaging Het
Uts2r G T 11: 121,051,213 (GRCm39) G26C possibly damaging Het
Vmn2r88 A T 14: 51,651,611 (GRCm39) E308D probably benign Het
Other mutations in Car6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Car6 APN 4 150,282,610 (GRCm39) missense probably benign 0.38
IGL03267:Car6 APN 4 150,280,503 (GRCm39) splice site probably benign
R0226:Car6 UTSW 4 150,271,965 (GRCm39) missense probably damaging 0.97
R0987:Car6 UTSW 4 150,281,800 (GRCm39) missense probably damaging 1.00
R1569:Car6 UTSW 4 150,285,499 (GRCm39) missense probably damaging 1.00
R1627:Car6 UTSW 4 150,277,035 (GRCm39) missense probably damaging 0.96
R2080:Car6 UTSW 4 150,282,598 (GRCm39) missense probably benign 0.01
R4812:Car6 UTSW 4 150,281,872 (GRCm39) missense probably damaging 0.96
R5902:Car6 UTSW 4 150,271,956 (GRCm39) missense possibly damaging 0.82
R5929:Car6 UTSW 4 150,280,592 (GRCm39) missense probably damaging 1.00
R6924:Car6 UTSW 4 150,273,713 (GRCm39) splice site probably null
R9088:Car6 UTSW 4 150,281,806 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16