Incidental Mutation 'R0152:Car5a'
ID 22786
Institutional Source Beutler Lab
Gene Symbol Car5a
Ensembl Gene ENSMUSG00000025317
Gene Name carbonic anhydrase 5a, mitochondrial
Synonyms Car5
MMRRC Submission 038435-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R0152 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 122642874-122671651 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122643185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 273 (N273I)
Ref Sequence ENSEMBL: ENSMUSP00000060457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057653] [ENSMUST00000127664]
AlphaFold P23589
PDB Structure MURINE MITOCHONDRIAL CARBONIC ANYHDRASE V AT 2.45 ANGSTROMS RESOLUTION [X-RAY DIFFRACTION]
COMPLEX BETWEEN MURINE MITOCHONDRIAL CARBONIC ANYHDRASE V AND THE TRANSITION STATE ANALOGUE ACETAZOLAMIDE [X-RAY DIFFRACTION]
Crystal Structure of F65A/Y131C Carbonic Anhydrase V, covalently modified with 4-chloromethylimidazole [X-RAY DIFFRACTION]
MURINE CARBONIC ANHYDRASE V [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000057653
AA Change: N273I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060457
Gene: ENSMUSG00000025317
AA Change: N273I

DomainStartEndE-ValueType
Carb_anhydrase 27 290 6.61e-125 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151462
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency 87% (40/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body size, hyperammonemia, and increased levels of urinary metabolites. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,074,688 (GRCm39) D834G probably damaging Het
Abca13 T A 11: 9,531,724 (GRCm39) H4650Q probably damaging Het
Aqr T A 2: 113,989,491 (GRCm39) T111S probably benign Het
Arfip2 G A 7: 105,286,430 (GRCm39) T124M probably damaging Het
Arhgap44 G T 11: 64,902,745 (GRCm39) A574E probably benign Het
Arhgef26 T C 3: 62,330,965 (GRCm39) S560P probably damaging Het
Cd4 G A 6: 124,844,709 (GRCm39) Q359* probably null Het
Cgrrf1 G A 14: 47,091,370 (GRCm39) C298Y probably damaging Het
Clip3 G A 7: 30,002,857 (GRCm39) A416T probably benign Het
Dst C T 1: 34,228,200 (GRCm39) P1606L probably damaging Het
Eif3e G A 15: 43,115,632 (GRCm39) A378V possibly damaging Het
Ercc6 C G 14: 32,268,862 (GRCm39) probably benign Het
Eri2 A G 7: 119,389,606 (GRCm39) V104A probably damaging Het
Exph5 T A 9: 53,264,504 (GRCm39) probably null Het
Hmcn1 A T 1: 150,539,630 (GRCm39) Y2954N probably benign Het
Itga2 C T 13: 115,002,850 (GRCm39) G547R probably benign Het
Kbtbd11 T C 8: 15,077,428 (GRCm39) V9A probably damaging Het
Ldb2 T C 5: 44,699,141 (GRCm39) D99G possibly damaging Het
Mfsd12 G T 10: 81,193,633 (GRCm39) D68Y probably damaging Het
Mgarp T C 3: 51,296,384 (GRCm39) D228G probably benign Het
Myh14 A T 7: 44,272,605 (GRCm39) L1441Q probably damaging Het
Obscn T C 11: 58,943,402 (GRCm39) D4810G probably benign Het
Or10ak9 T A 4: 118,726,083 (GRCm39) I34N possibly damaging Het
Or14c40 A T 7: 86,313,719 (GRCm39) Y283F probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5b12 A G 19: 12,897,472 (GRCm39) V67A possibly damaging Het
Or8g30 A G 9: 39,230,757 (GRCm39) I51T probably benign Het
Pdhx A G 2: 102,858,625 (GRCm39) V393A probably benign Het
Pdpk1 C T 17: 24,325,920 (GRCm39) R92H possibly damaging Het
Pgr A T 9: 8,965,023 (GRCm39) I889F probably benign Het
Pum2 T A 12: 8,778,754 (GRCm39) I468K possibly damaging Het
Recql5 A G 11: 115,785,499 (GRCm39) S666P probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc26a4 T C 12: 31,579,497 (GRCm39) I588M probably damaging Het
Slc9a2 A G 1: 40,781,964 (GRCm39) T398A probably damaging Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Tub A T 7: 108,620,134 (GRCm39) N93Y probably damaging Het
Usp3 T C 9: 66,447,432 (GRCm39) T181A probably damaging Het
Vars2 A G 17: 35,970,919 (GRCm39) L637P probably damaging Het
Vmn2r1 T C 3: 63,989,240 (GRCm39) S60P possibly damaging Het
Wdcp A G 12: 4,901,583 (GRCm39) S480G probably benign Het
Zbtb38 T C 9: 96,568,333 (GRCm39) Y917C probably damaging Het
Zfp68 T C 5: 138,604,875 (GRCm39) K445E probably damaging Het
Zmynd10 A G 9: 107,428,144 (GRCm39) probably null Het
Other mutations in Car5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01890:Car5a APN 8 122,650,349 (GRCm39) missense probably benign 0.07
IGL01972:Car5a APN 8 122,653,821 (GRCm39) critical splice donor site probably null
R0562:Car5a UTSW 8 122,671,469 (GRCm39) missense probably benign 0.00
R0699:Car5a UTSW 8 122,671,555 (GRCm39) unclassified probably benign
R1827:Car5a UTSW 8 122,650,547 (GRCm39) missense probably benign 0.00
R2274:Car5a UTSW 8 122,671,408 (GRCm39) critical splice donor site probably null
R4261:Car5a UTSW 8 122,671,488 (GRCm39) missense probably benign 0.03
R5436:Car5a UTSW 8 122,643,981 (GRCm39) intron probably benign
R5869:Car5a UTSW 8 122,643,119 (GRCm39) missense probably benign
R5937:Car5a UTSW 8 122,666,560 (GRCm39) missense probably damaging 1.00
R6388:Car5a UTSW 8 122,653,910 (GRCm39) missense probably damaging 1.00
R6803:Car5a UTSW 8 122,650,504 (GRCm39) critical splice donor site probably null
R7369:Car5a UTSW 8 122,650,573 (GRCm39) missense probably benign 0.01
R8919:Car5a UTSW 8 122,671,519 (GRCm39) missense probably benign
Z1177:Car5a UTSW 8 122,643,112 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACAACAAAGCAGGTCTCTCCTCTTCTT -3'
(R):5'- CGCGGAGTCACGGGTTCATTAT -3'

Sequencing Primer
(F):5'- atctgcctgcctctgcc -3'
(R):5'- AGTCACGGGTTCATTATACTGAG -3'
Posted On 2013-04-16