Incidental Mutation 'R0387:Car10'
ID 31362
Institutional Source Beutler Lab
Gene Symbol Car10
Ensembl Gene ENSMUSG00000056158
Gene Name carbonic anhydrase 10
Synonyms CA-RP X, 2700029L05Rik
MMRRC Submission 038593-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # R0387 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 92988854-93492575 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 93473847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042943] [ENSMUST00000107858] [ENSMUST00000107863]
AlphaFold P61215
Predicted Effect probably null
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 probably null
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 null
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 0.9493 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.7%
  • 10x: 94.2%
  • 20x: 85.0%
Validation Efficiency 99% (77/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T G 7: 119,932,075 (GRCm39) probably null Het
Abcc9 T A 6: 142,585,230 (GRCm39) K825* probably null Het
Afp T C 5: 90,645,150 (GRCm39) C189R probably damaging Het
Akap9 T C 5: 4,001,678 (GRCm39) probably benign Het
Alpk3 A T 7: 80,753,975 (GRCm39) T1652S possibly damaging Het
Atg4b C A 1: 93,714,278 (GRCm39) Q354K probably benign Het
Atxn2 T C 5: 121,940,206 (GRCm39) S388P possibly damaging Het
C2cd3 T A 7: 100,071,714 (GRCm39) probably benign Het
Cacna2d2 C A 9: 107,391,080 (GRCm39) T403K probably damaging Het
Cap2 C T 13: 46,713,992 (GRCm39) H79Y probably damaging Het
Ccno T C 13: 113,126,401 (GRCm39) L290P probably damaging Het
Cfap69 T C 5: 5,639,303 (GRCm39) K624E probably damaging Het
Ctnna3 A G 10: 64,421,909 (GRCm39) M568V probably benign Het
Cyp1b1 C A 17: 80,021,203 (GRCm39) V180L probably benign Het
Cyp2u1 G T 3: 131,089,201 (GRCm39) probably null Het
Dcp1a T C 14: 30,241,636 (GRCm39) probably null Het
Dnm1 C T 2: 32,210,593 (GRCm39) G1S possibly damaging Het
Dnmt1 A G 9: 20,829,509 (GRCm39) L698P probably damaging Het
Dock10 C A 1: 80,517,993 (GRCm39) C1327F probably damaging Het
Dph3b-ps A G 13: 106,683,363 (GRCm39) noncoding transcript Het
Dpyd G A 3: 119,220,875 (GRCm39) D949N probably benign Het
Dync2li1 A G 17: 84,962,768 (GRCm39) K345E possibly damaging Het
Eml2 T A 7: 18,916,184 (GRCm39) probably null Het
Exoc7 A G 11: 116,185,227 (GRCm39) probably benign Het
Faah A T 4: 115,862,889 (GRCm39) C113* probably null Het
Fcf1 T A 12: 85,019,776 (GRCm39) D16E probably benign Het
Fcgbp T C 7: 27,790,879 (GRCm39) probably benign Het
Ghr A G 15: 3,349,373 (GRCm39) S602P probably benign Het
Gm5114 T C 7: 39,058,233 (GRCm39) D462G probably benign Het
Gm8186 T A 17: 26,318,000 (GRCm39) S66C probably damaging Het
Gorab C T 1: 163,224,403 (GRCm39) V133M probably benign Het
Gria1 G A 11: 57,200,710 (GRCm39) probably null Het
Grik1 T A 16: 87,831,238 (GRCm39) probably benign Het
Gtf3c1 A G 7: 125,280,276 (GRCm39) L378P probably damaging Het
Htr5b A T 1: 121,455,275 (GRCm39) V215D probably damaging Het
Htra1 A G 7: 130,581,208 (GRCm39) T319A probably damaging Het
Idh2 C T 7: 79,748,005 (GRCm39) A232T probably damaging Het
Klrb1a A C 6: 128,586,697 (GRCm39) H189Q possibly damaging Het
Lhfpl6 A G 3: 52,950,749 (GRCm39) T8A probably benign Het
Ly75 T A 2: 60,136,748 (GRCm39) Y1493F probably benign Het
Mfsd5 T C 15: 102,189,531 (GRCm39) I301T possibly damaging Het
Mlkl C T 8: 112,059,982 (GRCm39) E135K probably damaging Het
Mrgprx2 A C 7: 48,148,908 (GRCm39) M1R probably null Het
Mroh2a G C 1: 88,173,764 (GRCm39) A871P probably damaging Het
Mtbp A G 15: 55,474,425 (GRCm39) I280V possibly damaging Het
Myo5c A T 9: 75,192,303 (GRCm39) probably benign Het
Nos3 A G 5: 24,572,583 (GRCm39) K174R probably damaging Het
Oas2 A T 5: 120,883,737 (GRCm39) probably benign Het
Or8b40 T A 9: 38,027,066 (GRCm39) probably null Het
Pi4kb G C 3: 94,892,051 (GRCm39) E256Q probably benign Het
Pik3c2a T A 7: 115,972,979 (GRCm39) I739F probably damaging Het
Pla2r1 T A 2: 60,262,945 (GRCm39) K1031N probably benign Het
Plk4 A T 3: 40,767,319 (GRCm39) probably benign Het
Polq T C 16: 36,849,792 (GRCm39) C349R probably damaging Het
Polq G T 16: 36,909,679 (GRCm39) E2354D probably damaging Het
Prss22 A G 17: 24,212,903 (GRCm39) L278P probably damaging Het
Prss3l A G 6: 41,420,303 (GRCm39) I141T possibly damaging Het
Ptprk G A 10: 28,230,625 (GRCm39) V239I possibly damaging Het
Raph1 T G 1: 60,549,655 (GRCm39) probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ripor3 C T 2: 167,825,692 (GRCm39) W755* probably null Het
Rnd3 G T 2: 51,038,243 (GRCm39) D77E probably damaging Het
Ryr1 T C 7: 28,782,792 (GRCm39) probably benign Het
Serpinb1a C T 13: 33,032,721 (GRCm39) V63I probably benign Het
Six1 T G 12: 73,092,815 (GRCm39) Y129S probably damaging Het
Spata31d1a G A 13: 59,851,315 (GRCm39) T271I probably damaging Het
Stab1 T C 14: 30,870,058 (GRCm39) D1387G probably benign Het
Stra6 T A 9: 58,060,466 (GRCm39) M625K probably benign Het
Syne1 T C 10: 5,301,029 (GRCm39) S900G probably benign Het
Tdpoz4 A C 3: 93,704,007 (GRCm39) K101N probably benign Het
Tigd2 T C 6: 59,188,143 (GRCm39) Y337H probably benign Het
Tnxb A G 17: 34,902,548 (GRCm39) I1134V probably benign Het
Tspyl5 A G 15: 33,687,081 (GRCm39) I288T probably damaging Het
Ulk1 A G 5: 110,936,663 (GRCm39) V61A possibly damaging Het
Xxylt1 A G 16: 30,776,194 (GRCm39) Y381H probably benign Het
Zcchc9 T A 13: 91,949,066 (GRCm39) M12L probably benign Het
Zfp106 T C 2: 120,358,953 (GRCm39) probably null Het
Zfp74 T A 7: 29,634,179 (GRCm39) T510S probably benign Het
Zfp808 A G 13: 62,317,292 (GRCm39) T14A probably 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
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'- AGGACAATATGTTTGCCTGCCTCTC -3'
(R):5'- GGCGTGGATGACAAAGACACTCTG -3'

Sequencing Primer
(F):5'- CTCAAGATGAGGTGTCCTTACAG -3'
(R):5'- GACTTATGCTTAAAATGGGCTGC -3'
Posted On 2013-04-24