Incidental Mutation 'IGL02837:Car10'
ID 391924
Institutional Source Beutler Lab
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 # IGL02837 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 92988854-93492575 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93488077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 258 (Y258F)
Ref Sequence ENSEMBL: ENSMUSP00000103495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042943] [ENSMUST00000107858] [ENSMUST00000107863]
AlphaFold P61215
Predicted Effect probably damaging
Transcript: ENSMUST00000042943
AA Change: Y258F

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000035585
Gene: ENSMUSG00000056158
AA Change: Y258F

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: Y234F

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103490
Gene: ENSMUSG00000056158
AA Change: Y234F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Carb_anhydrase 33 277 2.21e-71 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107863
AA Change: Y258F

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103495
Gene: ENSMUSG00000056158
AA Change: Y258F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Carb_anhydrase 33 301 2.25e-86 SMART
Meta Mutation Damage Score 0.1120 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (56/57)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 C T 17: 36,268,473 (GRCm39) V786I probably benign Het
Adamts13 A G 2: 26,881,432 (GRCm39) N803S probably benign Het
Ago4 C G 4: 126,391,093 (GRCm39) G730R possibly damaging Het
Amn T A 12: 111,238,333 (GRCm39) M55K possibly damaging Het
Apob A T 12: 8,055,102 (GRCm39) Y1334F probably damaging Het
Arl14ep A C 2: 106,799,574 (GRCm39) L89R probably damaging Het
Bcam T G 7: 19,498,111 (GRCm39) E304A probably damaging Het
Cerk T A 15: 86,028,896 (GRCm39) K82* probably null Het
Chac2 T C 11: 30,927,496 (GRCm39) N141S probably damaging Het
Clpx T G 9: 65,231,541 (GRCm39) L556R probably damaging Het
Csgalnact2 T C 6: 118,101,364 (GRCm39) I55V probably benign Het
Cul1 T C 6: 47,500,139 (GRCm39) V650A probably benign Het
Dnah5 A T 15: 28,269,546 (GRCm39) E895D probably benign Het
Dnah9 T C 11: 65,765,022 (GRCm39) K3841E probably damaging Het
Dpys A G 15: 39,720,701 (GRCm39) S20P probably damaging Het
Fat1 G A 8: 45,470,471 (GRCm39) V1490I probably benign Het
Flg2 T G 3: 93,109,044 (GRCm39) C357W probably damaging Het
Flt1 T A 5: 147,591,980 (GRCm39) D494V probably benign Het
Fpr-rs4 T A 17: 18,242,513 (GRCm39) D173E probably benign Het
Gm2666 G T 1: 85,412,824 (GRCm39) noncoding transcript Het
Gm3867 C A 9: 36,169,096 (GRCm39) noncoding transcript Het
Gm5436 A T 12: 84,305,374 (GRCm39) noncoding transcript Het
Kit G A 5: 75,799,668 (GRCm39) V467I probably benign Het
Krtap4-16 A G 11: 99,741,863 (GRCm39) V179A unknown Het
Lrp8 C A 4: 107,718,478 (GRCm39) H693Q probably benign Het
Lrrc49 A G 9: 60,517,605 (GRCm39) S75P probably benign Het
Ltbp4 C A 7: 27,013,806 (GRCm39) V1068L probably damaging Het
Magel2 C T 7: 62,028,008 (GRCm39) P304L possibly damaging Het
Muc19 T A 15: 91,766,850 (GRCm39) noncoding transcript Het
Npas3 T C 12: 53,993,980 (GRCm39) V175A possibly damaging Het
Nr1h4 A T 10: 89,352,342 (GRCm39) H8Q probably benign Het
Ntsr2 G A 12: 16,703,876 (GRCm39) V126M probably damaging Het
Odf2 A T 2: 29,816,725 (GRCm39) T725S probably damaging Het
Or52e19b C T 7: 103,032,822 (GRCm39) C129Y probably damaging Het
Or5h17 C T 16: 58,820,909 (GRCm39) P287L probably damaging Het
Or9s13 T C 1: 92,548,404 (GRCm39) Y259H possibly damaging Het
Pgr T C 9: 8,946,639 (GRCm39) probably benign Het
Pik3c2g T A 6: 139,603,562 (GRCm39) C249* probably null Het
Plcd3 C T 11: 102,961,929 (GRCm39) V726M possibly damaging Het
Prl8a1 A G 13: 27,759,617 (GRCm39) L140P probably damaging Het
Prpf6 C A 2: 181,264,056 (GRCm39) D239E probably damaging Het
Rcc1 C T 4: 132,065,067 (GRCm39) R139H probably benign Het
Rimbp2 G T 5: 128,874,809 (GRCm39) Q268K probably damaging Het
Rps19-ps13 A T 18: 40,859,447 (GRCm39) noncoding transcript Het
Sema4c C A 1: 36,591,965 (GRCm39) G266V probably damaging Het
Sema4g T C 19: 44,985,150 (GRCm39) F156S probably damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Speer4f1 G T 5: 17,685,381 (GRCm39) L225F unknown Het
Thrap3 T C 4: 126,059,157 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 144,995,568 (GRCm39) E497G probably benign Het
Trim3 T C 7: 105,261,863 (GRCm39) N631S probably damaging Het
Trim45 C T 3: 100,838,943 (GRCm39) probably benign Het
Wdr43 A G 17: 71,949,731 (GRCm39) D445G 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
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
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
Predicted Primers PCR Primer
(F):5'- GCTAAGCTTTGGTTCGATTACC -3'
(R):5'- TGCTGACTCTGTGAACATAGG -3'

Sequencing Primer
(F):5'- GATTACCTTCCTTTCCAGATGATG -3'
(R):5'- CAGATTCTCACATTCCTGGGAAGG -3'
Posted On 2016-06-08