Incidental Mutation 'IGL03061:Car10'
ID 409468
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 # IGL03061
Quality Score
Status
Chromosome 11
Chromosomal Location 92988854-93492575 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 93381351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 105 (V105F)
Ref Sequence ENSEMBL: ENSMUSP00000103493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042943] [ENSMUST00000107858] [ENSMUST00000107861] [ENSMUST00000107863]
AlphaFold P61215
Predicted Effect possibly damaging
Transcript: ENSMUST00000042943
AA Change: V105F

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035585
Gene: ENSMUSG00000056158
AA Change: V105F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Carb_anhydrase 33 301 2.25e-86 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107858
SMART Domains Protein: ENSMUSP00000103490
Gene: ENSMUSG00000056158

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Carb_anhydrase 33 277 2.21e-71 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107861
AA Change: V105F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103493
Gene: ENSMUSG00000056158
AA Change: V105F

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: V105F

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103495
Gene: ENSMUSG00000056158
AA Change: V105F

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T A 8: 46,961,374 (GRCm39) N106K probably damaging Het
Ak8 T C 2: 28,632,767 (GRCm39) probably benign Het
BC016579 C T 16: 45,449,849 (GRCm39) G190S probably damaging Het
C4bp A G 1: 130,564,454 (GRCm39) V410A probably damaging Het
Cacna2d3 T C 14: 28,780,388 (GRCm39) T658A probably damaging Het
Cadps2 T C 6: 23,287,659 (GRCm39) probably null Het
Car15 C T 16: 17,653,249 (GRCm39) C306Y possibly damaging Het
Casr C T 16: 36,316,250 (GRCm39) A530T probably benign Het
Col5a3 A G 9: 20,708,868 (GRCm39) probably null Het
Creld1 A G 6: 113,465,058 (GRCm39) E95G probably damaging Het
Dcstamp T A 15: 39,623,793 (GRCm39) D366E possibly damaging Het
Dnah11 T C 12: 117,866,856 (GRCm39) Y4095C probably damaging Het
Eps8l2 A G 7: 140,937,148 (GRCm39) probably benign Het
Gsn T C 2: 35,172,471 (GRCm39) probably benign Het
Ifi27l2a T C 12: 103,401,803 (GRCm39) V30A possibly damaging Het
Ifit1bl2 C T 19: 34,597,124 (GRCm39) R164Q probably benign Het
Impg2 T C 16: 56,088,779 (GRCm39) S1102P probably damaging Het
Kif24 G T 4: 41,394,323 (GRCm39) P984Q possibly damaging Het
Krtap29-1 T A 11: 99,869,455 (GRCm39) Q142L possibly damaging Het
Lpar6 C T 14: 73,476,510 (GRCm39) T157I probably benign Het
Lrrc32 A T 7: 98,148,629 (GRCm39) T470S probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mroh9 A T 1: 162,854,071 (GRCm39) H776Q probably damaging Het
Myh7 T C 14: 55,228,661 (GRCm39) probably benign Het
Myh7b A G 2: 155,462,031 (GRCm39) N309S possibly damaging Het
Myo5b A T 18: 74,767,630 (GRCm39) T313S probably benign Het
Myo5b G A 18: 74,713,615 (GRCm39) probably benign Het
Npas4 C T 19: 5,036,365 (GRCm39) V600M probably damaging Het
Nrxn3 T A 12: 89,478,698 (GRCm39) Y557* probably null Het
Or2aj4 T C 16: 19,385,463 (GRCm39) T57A possibly damaging Het
Or52k2 A G 7: 102,253,946 (GRCm39) I128M probably damaging Het
Or8g53 T A 9: 39,683,458 (GRCm39) T213S probably benign Het
Pcdh15 A G 10: 74,152,843 (GRCm39) I383V probably damaging Het
Pdzrn3 C A 6: 101,128,816 (GRCm39) D617Y probably damaging Het
Prodh2 A T 7: 30,212,258 (GRCm39) K408* probably null Het
Ptprs T C 17: 56,725,830 (GRCm39) I1052V probably damaging Het
Rpl14 T C 9: 120,401,193 (GRCm39) V12A probably damaging Het
Sf3a1 C T 11: 4,125,493 (GRCm39) R428C probably damaging Het
Sgsm2 G T 11: 74,741,962 (GRCm39) N1009K probably damaging Het
Slc28a2 A T 2: 122,284,980 (GRCm39) I323F probably damaging Het
Snx19 T A 9: 30,344,928 (GRCm39) F676I probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tg A C 15: 66,543,254 (GRCm39) D56A probably damaging Het
Tln1 G T 4: 43,545,694 (GRCm39) A928E probably damaging Het
Tmem94 T C 11: 115,683,247 (GRCm39) S677P possibly damaging Het
Ttc41 C A 10: 86,572,721 (GRCm39) H698N possibly damaging Het
Vcan T C 13: 89,851,394 (GRCm39) T1189A probably benign Het
Vmn1r215 G T 13: 23,260,088 (GRCm39) V43F probably damaging Het
Vmn2r28 A T 7: 5,487,015 (GRCm39) N549K probably damaging Het
Zfp598 T C 17: 24,898,566 (GRCm39) V455A probably benign Het
Other mutations in Car10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00670:Car10 APN 11 93,195,483 (GRCm39) splice site probably benign
IGL01077:Car10 APN 11 93,487,969 (GRCm39) missense possibly damaging 0.54
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
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 2016-08-02