Incidental Mutation 'R6013:Car10'
ID 479863
Institutional Source Beutler Lab
Gene Symbol Car10
Ensembl Gene ENSMUSG00000056158
Gene Name carbonic anhydrase 10
Synonyms CA-RP X, 2700029L05Rik
MMRRC Submission 044189-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.608) question?
Stock # R6013 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 92988854-93492575 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 93076105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042943] [ENSMUST00000107858] [ENSMUST00000107859] [ENSMUST00000107861] [ENSMUST00000107863]
AlphaFold P61215
Predicted Effect probably benign
Transcript: ENSMUST00000042943
SMART Domains Protein: ENSMUSP00000035585
Gene: ENSMUSG00000056158

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Carb_anhydrase 33 301 2.25e-86 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000092780
SMART Domains Protein: ENSMUSP00000090455
Gene: ENSMUSG00000056158

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
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 benign
Transcript: ENSMUST00000107859
SMART Domains Protein: ENSMUSP00000103491
Gene: ENSMUSG00000056158

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:Carb_anhydrase 33 98 8e-40 BLAST
SCOP:d2znc__ 33 99 1e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107861
SMART Domains Protein: ENSMUSP00000103493
Gene: ENSMUSG00000056158

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Carb_anhydrase 33 169 2.14e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107863
SMART Domains Protein: ENSMUSP00000103495
Gene: ENSMUSG00000056158

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Carb_anhydrase 33 301 2.25e-86 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 98% (54/55)
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
1700008P02Rik C T 3: 6,682,310 (GRCm39) probably null Het
Aanat A T 11: 116,486,950 (GRCm39) probably null Het
Abca17 A T 17: 24,506,820 (GRCm39) V1178E possibly damaging Het
Abcf3 T A 16: 20,369,311 (GRCm39) probably null Het
Alk A G 17: 72,207,732 (GRCm39) M1001T probably benign Het
Arhgap23 C A 11: 97,391,818 (GRCm39) S1445Y probably damaging Het
Atp10a T C 7: 58,447,538 (GRCm39) I760T probably benign Het
Cadm1 C T 9: 47,768,572 (GRCm39) probably benign Het
Casq2 G T 3: 102,052,945 (GRCm39) probably null Het
Cemip2 G A 19: 21,809,403 (GRCm39) V928I possibly damaging Het
Clec4f T C 6: 83,632,070 (GRCm39) I55V probably benign Het
Cngb1 T C 8: 96,010,949 (GRCm39) probably benign Het
Csn1s2b A G 5: 87,972,098 (GRCm39) probably null Het
Cyp2c39 A C 19: 39,501,969 (GRCm39) R119S probably benign Het
Cyp4f16 C T 17: 32,765,652 (GRCm39) A345V probably null Het
Ddx43 T C 9: 78,321,567 (GRCm39) L412S probably damaging Het
Dnajb12 G A 10: 59,730,163 (GRCm39) probably null Het
Ephx2 A G 14: 66,347,691 (GRCm39) S56P probably benign Het
Fam83h A G 15: 75,875,849 (GRCm39) F496S probably damaging Het
Gcnt4 T C 13: 97,083,786 (GRCm39) S361P possibly damaging Het
H2-T23 G T 17: 36,341,474 (GRCm39) H332Q probably benign Het
Hrob T C 11: 102,145,859 (GRCm39) V45A probably benign Het
Ift57 G T 16: 49,519,667 (GRCm39) probably null Het
Il1rl2 A G 1: 40,391,017 (GRCm39) H320R possibly damaging Het
Kansl1 A G 11: 104,241,465 (GRCm39) V618A probably benign Het
Kctd3 T C 1: 188,728,665 (GRCm39) E157G probably benign Het
Magohb T A 6: 131,270,037 (GRCm39) D31V possibly damaging Het
Mdn1 C A 4: 32,715,713 (GRCm39) F1993L probably damaging Het
Med29 C A 7: 28,086,418 (GRCm39) C130F probably benign Het
Mtmr7 G A 8: 41,034,570 (GRCm39) R251C probably damaging Het
Ncor1 T C 11: 62,211,903 (GRCm39) I49V probably benign Het
Nfkb1 G T 3: 135,332,445 (GRCm39) T109K possibly damaging Het
Pkd1l1 A G 11: 8,819,452 (GRCm39) probably null Het
Pkp1 T A 1: 135,811,648 (GRCm39) T408S probably damaging Het
Plec A T 15: 76,073,510 (GRCm39) D501E possibly damaging Het
Prcp A C 7: 92,576,976 (GRCm39) Y335S possibly damaging Het
Reg2 T A 6: 78,384,952 (GRCm39) Y165N possibly damaging Het
Rnf7 T C 9: 96,353,787 (GRCm39) *114W probably null Het
Scg3 T C 9: 75,584,090 (GRCm39) D137G probably damaging Het
Serpinb7 T C 1: 107,377,919 (GRCm39) V204A probably benign Het
Sez6 C T 11: 77,864,623 (GRCm39) H528Y probably damaging Het
Sf3b1 A T 1: 55,039,457 (GRCm39) S723T probably damaging Het
Shtn1 T C 19: 58,963,533 (GRCm39) D594G probably damaging Het
Sptbn4 A G 7: 27,063,904 (GRCm39) L2174P probably damaging Het
Stk25 A G 1: 93,553,181 (GRCm39) probably null Het
Tep1 A T 14: 51,098,505 (GRCm39) F429I probably damaging Het
Thada T A 17: 84,580,228 (GRCm39) I1409F probably benign Het
Usp25 G A 16: 76,873,909 (GRCm39) G495E probably benign Het
Washc2 A G 6: 116,231,114 (GRCm39) S844G probably damaging Het
Xirp2 A T 2: 67,341,287 (GRCm39) H1176L possibly damaging Het
Ypel1 T C 16: 16,918,129 (GRCm39) N96D probably damaging Het
Zfand6 C A 7: 84,281,900 (GRCm39) V110L probably benign Het
Zfp30 A G 7: 29,488,846 (GRCm39) R8G possibly damaging 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
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
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'- AATCCATGAAGGCTGGTGGG -3'
(R):5'- GAATCCTAGCATTGCCAGTTTACATAG -3'

Sequencing Primer
(F):5'- CATGAAGGCTGGTGGGCATAC -3'
(R):5'- TTAAGTTGCTGCTCACATAACAAGAC -3'
Posted On 2017-06-26