Incidental Mutation 'R0076:Car10'
ID17982
Institutional Source Beutler Lab
Gene Symbol Car10
Ensembl Gene ENSMUSG00000056158
Gene Namecarbonic anhydrase 10
SynonymsCA-RP X, 2700029L05Rik
MMRRC Submission 038363-MU
Accession Numbers

Genbank: NM_028296; MGI: 1919855

Is this an essential gene? Possibly essential (E-score: 0.500) question?
Stock #R0076 (G1)
Quality Score
Status Validated
Chromosome11
Chromosomal Location93098028-93601749 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 93490597 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 129 (E129K)
Ref Sequence ENSEMBL: ENSMUSP00000103493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042943] [ENSMUST00000107858] [ENSMUST00000107861] [ENSMUST00000107863]
Predicted Effect possibly damaging
Transcript: ENSMUST00000042943
AA Change: E129K

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000035585
Gene: ENSMUSG00000056158
AA Change: E129K

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Carb_anhydrase 33 301 2.25e-86 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107858
AA Change: E105K

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103490
Gene: ENSMUSG00000056158
AA Change: E105K

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Carb_anhydrase 33 277 2.21e-71 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107861
AA Change: E129K

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103493
Gene: ENSMUSG00000056158
AA Change: E129K

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Carb_anhydrase 33 169 2.14e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107863
AA Change: E129K

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103495
Gene: ENSMUSG00000056158
AA Change: E129K

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Carb_anhydrase 33 301 2.25e-86 SMART
Meta Mutation Damage Score 0.1589 question?
Coding Region Coverage
  • 1x: 89.9%
  • 3x: 87.5%
  • 10x: 81.6%
  • 20x: 72.8%
Validation Efficiency 92% (83/90)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T G 7: 120,373,685 probably benign Het
Acpp A G 9: 104,324,218 probably benign Het
Ada T A 2: 163,727,603 probably benign Het
Ankrd17 T A 5: 90,244,406 K1693* probably null Het
Arhgef38 T A 3: 133,160,746 H210L possibly damaging Het
Cask A G X: 13,678,274 probably benign Het
Cd19 T C 7: 126,410,862 D406G probably damaging Het
Cd93 T C 2: 148,442,136 D430G probably benign Het
Cds1 T C 5: 101,817,840 probably benign Het
Cerkl A T 2: 79,343,289 S259T possibly damaging Het
Cog8 T C 8: 107,054,133 I164M possibly damaging Het
Col4a1 G A 8: 11,218,713 P1009L probably damaging Het
Col9a1 G A 1: 24,237,497 probably null Het
Dcc G A 18: 71,321,046 Q1241* probably null Het
Dock3 A C 9: 106,911,486 probably benign Het
Dus1l A T 11: 120,792,808 probably benign Het
Dvl2 G A 11: 70,008,100 E438K probably damaging Het
Eif3g A G 9: 20,897,753 F85S probably damaging Het
Fam234b A G 6: 135,227,226 M456V probably benign Het
Fbxo47 G A 11: 97,857,655 probably benign Het
Fyb2 A G 4: 104,945,464 T188A possibly damaging Het
Gm11437 T C 11: 84,148,636 T288A possibly damaging Het
Gm5546 T A 3: 104,353,132 noncoding transcript Het
Gmfb C A 14: 46,817,455 A11S probably benign Het
Gpat4 G A 8: 23,190,705 probably benign Het
Ifitm6 T A 7: 141,016,007 R124S possibly damaging Het
Il17rd T A 14: 27,094,854 L172Q probably damaging Het
Il4 A T 11: 53,613,914 L13Q probably damaging Het
Kif2b A G 11: 91,575,909 M516T probably damaging Het
Kmt2a A G 9: 44,830,059 probably benign Het
Maats1 G A 16: 38,302,684 Q661* probably null Het
Mark1-ps1 T A 17: 53,947,877 noncoding transcript Het
Mndal G T 1: 173,874,447 C96* probably null Het
Mroh1 T C 15: 76,451,140 S1365P probably benign Het
Mrpl12 A G 11: 120,485,442 probably benign Het
Mthfsd C A 8: 121,098,739 V270F probably benign Het
Nbas T A 12: 13,324,336 V555D probably damaging Het
Pcdhb16 T C 18: 37,478,359 V124A probably damaging Het
Pla2g10 T A 16: 13,715,518 Y131F possibly damaging Het
Plec T C 15: 76,191,414 probably benign Het
Polr2b T A 5: 77,326,561 V415E possibly damaging Het
Pou6f1 G A 15: 100,587,836 Q106* probably null Het
Ptprd T C 4: 75,947,039 probably benign Het
Rad54b G A 4: 11,609,480 probably benign Het
Rspo1 G A 4: 124,991,397 R22Q probably benign Het
Scn7a A G 2: 66,714,037 V370A probably benign Het
Sec1 A G 7: 45,678,891 V244A probably damaging Het
Serac1 A G 17: 6,064,937 probably benign Het
Slco2b1 A T 7: 99,685,501 Y254* probably null Het
Steap3 G A 1: 120,227,730 R500C probably damaging Het
Stk10 A G 11: 32,603,722 T580A probably benign Het
Tpo C T 12: 30,104,023 G228R probably damaging Het
Tpx2 T C 2: 152,893,683 F744L probably damaging Het
Ube3b G T 5: 114,408,217 probably null Het
Vmn2r84 A G 10: 130,394,193 S17P probably damaging Het
Vps13d A T 4: 145,164,694 probably benign Het
Zfp532 T A 18: 65,685,627 S851R probably benign Het
Zfp623 G A 15: 75,947,209 E5K probably benign Het
Other mutations in Car10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00670:Car10 APN 11 93304657 splice site probably benign
IGL01077:Car10 APN 11 93597143 missense possibly damaging 0.54
IGL01099:Car10 APN 11 93578690 missense possibly damaging 0.91
IGL02810:Car10 APN 11 93578696 missense probably damaging 1.00
IGL03037:Car10 APN 11 93100218 utr 5 prime probably benign
IGL03061:Car10 APN 11 93490525 missense probably damaging 0.98
IGL03105:Car10 APN 11 93100275 missense probably benign 0.07
IGL03347:Car10 APN 11 93100296 splice site probably benign
IGL02837:Car10 UTSW 11 93597251 missense probably damaging 0.96
R0076:Car10 UTSW 11 93490597 missense possibly damaging 0.93
R0387:Car10 UTSW 11 93583021 critical splice donor site probably null
R0511:Car10 UTSW 11 93490582 missense probably damaging 1.00
R1372:Car10 UTSW 11 93578699 missense probably benign 0.02
R4692:Car10 UTSW 11 93185158 critical splice donor site probably null
R4799:Car10 UTSW 11 93578666 missense possibly damaging 0.81
R5947:Car10 UTSW 11 93490613 missense probably damaging 1.00
R6010:Car10 UTSW 11 93599323 missense possibly damaging 0.52
R6013:Car10 UTSW 11 93185279 intron probably benign
R7268:Car10 UTSW 11 93599251 missense probably benign 0.26
R7995:Car10 UTSW 11 93597122 missense probably damaging 0.99
Posted On2013-03-25