Incidental Mutation 'IGL01077:Car10'
ID 52238
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car10
Ensembl Gene ENSMUSG00000056158
Gene Name carbonic anhydrase 10
Synonyms CA-RP X, 2700029L05Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # IGL01077
Quality Score
Status
Chromosome 11
Chromosomal Location 92988854-93492575 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93487969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 222 (I222T)
Ref Sequence ENSEMBL: ENSMUSP00000103495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042943] [ENSMUST00000107858] [ENSMUST00000107863]
AlphaFold P61215
Predicted Effect possibly damaging
Transcript: ENSMUST00000042943
AA Change: I222T

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035585
Gene: ENSMUSG00000056158
AA Change: I222T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Carb_anhydrase 33 301 2.25e-86 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107858
AA Change: I198T

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103490
Gene: ENSMUSG00000056158
AA Change: I198T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Carb_anhydrase 33 277 2.21e-71 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107863
AA Change: I222T

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103495
Gene: ENSMUSG00000056158
AA Change: I222T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Carb_anhydrase 33 301 2.25e-86 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. The protein encoded by this gene is an acatalytic member of the alpha-carbonic anhydrase subgroup, and it is thought to play a role in the central nervous system, especially in brain development. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(5) : Gene trapped(5)
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 A T 1: 58,096,569 (GRCm39) probably benign Het
Arhgap4 A G X: 72,943,699 (GRCm39) probably benign Het
Ascc3 T G 10: 50,525,413 (GRCm39) probably benign Het
Cacng5 C T 11: 107,772,531 (GRCm39) V106I probably benign Het
Cep250 G A 2: 155,804,054 (GRCm39) V55M probably damaging Het
Chst4 T A 8: 110,756,597 (GRCm39) Y422F probably benign Het
Dnajc13 T C 9: 104,108,220 (GRCm39) E185G probably benign Het
Dtx2 T A 5: 136,058,057 (GRCm39) M454K possibly damaging Het
Flg2 T A 3: 93,127,513 (GRCm39) S2142T unknown Het
Ganc C T 2: 120,276,996 (GRCm39) T686M possibly damaging Het
Gm53 C T 11: 96,142,594 (GRCm39) noncoding transcript Het
Gria3 T C X: 40,677,369 (GRCm39) V254A possibly damaging Het
H2-DMb2 G T 17: 34,367,587 (GRCm39) A3S probably damaging Het
H2-DMb2 A G 17: 34,366,694 (GRCm39) Y42C probably damaging Het
Mtrex A T 13: 113,051,023 (GRCm39) I184K probably damaging Het
Myzap T C 9: 71,454,042 (GRCm39) E343G probably damaging Het
Nap1l2 T C X: 102,228,922 (GRCm39) D332G probably benign Het
Npr1 T G 3: 90,365,669 (GRCm39) D628A probably damaging Het
Raet1e T C 10: 22,057,219 (GRCm39) L181S probably damaging Het
Rnf43 G T 11: 87,622,718 (GRCm39) M606I probably benign Het
Serpinb6b G A 13: 33,162,049 (GRCm39) D283N possibly damaging Het
Slit2 A G 5: 48,374,785 (GRCm39) probably null Het
Supt5 C T 7: 28,023,213 (GRCm39) W323* probably null Het
Svep1 T A 4: 58,068,760 (GRCm39) I3009F possibly damaging Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tll1 T C 8: 64,523,266 (GRCm39) Y482C probably benign Het
Trappc8 G A 18: 20,970,035 (GRCm39) T985I probably benign Het
Zfp945 T C 17: 23,071,359 (GRCm39) K180R probably damaging Het
Other mutations in Car10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00670:Car10 APN 11 93,195,483 (GRCm39) splice site probably benign
IGL01099:Car10 APN 11 93,469,516 (GRCm39) missense possibly damaging 0.91
IGL02810:Car10 APN 11 93,469,522 (GRCm39) missense probably damaging 1.00
IGL03037:Car10 APN 11 92,991,044 (GRCm39) utr 5 prime probably benign
IGL03061:Car10 APN 11 93,381,351 (GRCm39) missense probably damaging 0.98
IGL03105:Car10 APN 11 92,991,101 (GRCm39) missense probably benign 0.07
IGL03347:Car10 APN 11 92,991,122 (GRCm39) splice site probably benign
IGL02837:Car10 UTSW 11 93,488,077 (GRCm39) missense probably damaging 0.96
R0076:Car10 UTSW 11 93,381,423 (GRCm39) missense possibly damaging 0.93
R0076:Car10 UTSW 11 93,381,423 (GRCm39) missense possibly damaging 0.93
R0387:Car10 UTSW 11 93,473,847 (GRCm39) critical splice donor site probably null
R0511:Car10 UTSW 11 93,381,408 (GRCm39) missense probably damaging 1.00
R1372:Car10 UTSW 11 93,469,525 (GRCm39) missense probably benign 0.02
R4692:Car10 UTSW 11 93,075,984 (GRCm39) critical splice donor site probably null
R4799:Car10 UTSW 11 93,469,492 (GRCm39) missense possibly damaging 0.81
R5947:Car10 UTSW 11 93,381,439 (GRCm39) missense probably damaging 1.00
R6010:Car10 UTSW 11 93,490,149 (GRCm39) missense possibly damaging 0.52
R6013:Car10 UTSW 11 93,076,105 (GRCm39) intron probably benign
R7268:Car10 UTSW 11 93,490,077 (GRCm39) missense probably benign 0.26
R7995:Car10 UTSW 11 93,487,948 (GRCm39) missense probably damaging 0.99
R9717:Car10 UTSW 11 93,195,367 (GRCm39) missense probably benign 0.12
Z1191:Car10 UTSW 11 93,195,462 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21