Incidental Mutation 'R4261:Car5a'
ID 322656
Institutional Source Beutler Lab
Gene Symbol Car5a
Ensembl Gene ENSMUSG00000025317
Gene Name carbonic anhydrase 5a, mitochondrial
Synonyms Car5
MMRRC Submission 041074-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R4261 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 122642874-122671651 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122671488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 15 (H15Q)
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 benign
Transcript: ENSMUST00000057653
AA Change: H15Q

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000060457
Gene: ENSMUSG00000025317
AA Change: H15Q

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: ENSMUST00000182352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195830
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 96% (53/55)
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
1700010I14Rik T C 17: 9,214,066 (GRCm39) S298P probably damaging Het
4930407I10Rik A G 15: 81,947,927 (GRCm39) D608G possibly damaging Het
Actr10 T C 12: 70,999,759 (GRCm39) V185A probably benign Het
Adam9 G A 8: 25,454,923 (GRCm39) Q733* probably null Het
Adamts4 C T 1: 171,086,673 (GRCm39) P822S probably benign Het
Arhgap9 G C 10: 127,164,334 (GRCm39) R537P probably damaging Het
Bsn T A 9: 107,987,883 (GRCm39) probably benign Het
Disp1 A T 1: 182,870,950 (GRCm39) I490N probably damaging Het
Dlgap5 T G 14: 47,651,245 (GRCm39) Y96S probably damaging Het
Dnah10 T A 5: 124,807,201 (GRCm39) V162D possibly damaging Het
Dock7 A T 4: 98,892,123 (GRCm39) M821K possibly damaging Het
Exoc3l T C 8: 106,017,599 (GRCm39) R528G probably damaging Het
Fam234b G A 6: 135,186,134 (GRCm39) G17E unknown Het
Grhl2 G A 15: 37,361,067 (GRCm39) G617D possibly damaging Het
Herc1 CTGAGGACTCTTTG CTG 9: 66,355,630 (GRCm39) probably null Het
Hoxd9 C A 2: 74,526,031 (GRCm39) probably benign Het
Hspa9 A G 18: 35,072,476 (GRCm39) S550P probably damaging Het
Ide A C 19: 37,306,585 (GRCm39) S63A unknown Het
Kat6b T A 14: 21,719,737 (GRCm39) I1363N probably damaging Het
Ltbp1 T A 17: 75,598,362 (GRCm39) C614* probably null Het
Mphosph8 A G 14: 56,911,922 (GRCm39) D315G probably benign Het
Mthfr-ps1 A C 5: 78,622,330 (GRCm39) noncoding transcript Het
Mug1 A G 6: 121,850,693 (GRCm39) T730A probably benign Het
Myef2 T C 2: 124,957,399 (GRCm39) T119A possibly damaging Het
Pald1 A G 10: 61,179,471 (GRCm39) L466P probably damaging Het
Pcdh15 G A 10: 74,481,512 (GRCm39) V286M probably damaging Het
Pcdhgb2 A G 18: 37,824,950 (GRCm39) D647G probably damaging Het
Pdgfrb A C 18: 61,210,703 (GRCm39) T737P probably benign Het
Pgk2 T G 17: 40,518,274 (GRCm39) T385P probably benign Het
Pkp4 A G 2: 59,135,506 (GRCm39) Y126C probably damaging Het
Plppr1 A G 4: 49,300,993 (GRCm39) I109V probably benign Het
Ppcs A G 4: 119,279,106 (GRCm39) F149L probably damaging Het
Ppp2r5d G A 17: 46,998,007 (GRCm39) Q219* probably null Het
Raf1 C T 6: 115,600,015 (GRCm39) probably null Het
Rfx7 C T 9: 72,523,925 (GRCm39) R372W probably damaging Het
Robo4 C A 9: 37,316,877 (GRCm39) S397R probably benign Het
Sat1 T C X: 153,998,182 (GRCm39) probably benign Het
Serpina1c T C 12: 103,863,339 (GRCm39) K287R probably benign Het
Sgsm2 T A 11: 74,782,854 (GRCm39) H34L probably damaging Het
Slc38a4 A G 15: 96,896,374 (GRCm39) Y498H probably damaging Het
Ttn T A 2: 76,628,384 (GRCm39) Y14592F probably damaging Het
Ube3b T C 5: 114,536,489 (GRCm39) F245S possibly damaging Het
Ugt3a1 G A 15: 9,335,879 (GRCm39) probably null Het
Wdr91 T A 6: 34,881,457 (GRCm39) S297C possibly damaging Het
Zcwpw2 T C 9: 117,827,982 (GRCm39) noncoding transcript 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
R0152:Car5a UTSW 8 122,643,185 (GRCm39) missense probably damaging 1.00
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
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'- ACGGAAGCCAACCATGTTG -3'
(R):5'- CCAAAGCAGTGACCAGAGTG -3'

Sequencing Primer
(F):5'- GCCAACCATGTTGCCTCTTAAAG -3'
(R):5'- AGTGACCAGAGTGGCCTGTTC -3'
Posted On 2015-06-20