Incidental Mutation 'R0547:Car5b'
ID 44938
Institutional Source Beutler Lab
Gene Symbol Car5b
Ensembl Gene ENSMUSG00000031373
Gene Name carbonic anhydrase 5b, mitochondrial
Synonyms D730005F19Rik, CAVB, 7330410H16Rik
MMRRC Submission 038739-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0547 (G1)
Quality Score 223
Status Validated
Chromosome X
Chromosomal Location 162759818-162810993 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 162762297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 282 (R282C)
Ref Sequence ENSEMBL: ENSMUSP00000033739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033739]
AlphaFold Q9QZA0
Predicted Effect probably damaging
Transcript: ENSMUST00000033739
AA Change: R282C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033739
Gene: ENSMUSG00000031373
AA Change: R282C

DomainStartEndE-ValueType
Carb_anhydrase 39 296 7.37e-123 SMART
Meta Mutation Damage Score 0.9399 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 98% (57/58)
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 VB is localized in the mitochondria and shows the highest sequence similarity to the other mitochondrial CA, CA VA. It has a wider tissue distribution than CA VA, which is restricted to the liver. The differences in tissue distribution suggest that the two mitochondrial carbonic anhydrases evolved to assume different physiologic roles. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice that are either homozygous or hemizygous for a knock-out allele exhibit normal survival and show no detectable differences in blood ammonia or fasting glucose levels relative to control littermates. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A G 16: 88,570,498 (GRCm39) Y181H probably benign Het
A530084C06Rik A G 13: 31,742,813 (GRCm39) probably benign Het
Adamtsl1 A G 4: 86,274,592 (GRCm39) D1208G probably benign Het
Ankrd55 T C 13: 112,504,757 (GRCm39) F501S probably benign Het
Aox1 G A 1: 58,349,201 (GRCm39) D656N probably damaging Het
Atr A T 9: 95,781,218 (GRCm39) probably benign Het
Bicra G A 7: 15,706,173 (GRCm39) R1423W probably damaging Het
Cabyr T A 18: 12,884,073 (GRCm39) S187T probably benign Het
Cdon A T 9: 35,368,794 (GRCm39) T343S possibly damaging Het
Cep350 C T 1: 155,777,181 (GRCm39) probably null Het
Cimap1a A G 7: 140,428,728 (GRCm39) probably null Het
Copa T C 1: 171,949,254 (GRCm39) probably benign Het
Cyp4f18 T C 8: 72,749,854 (GRCm39) D265G probably benign Het
Dgkb T A 12: 38,654,157 (GRCm39) C759S probably benign Het
Dnah6 T C 6: 73,021,757 (GRCm39) M3470V probably benign Het
Eif4g2 T C 7: 110,677,500 (GRCm39) N177S probably damaging Het
Etfb C T 7: 43,104,002 (GRCm39) Q145* probably null Het
Flnb T A 14: 7,912,943 (GRCm38) probably null Het
G430095P16Rik G A 8: 85,453,271 (GRCm39) probably benign Het
Gfral A T 9: 76,115,924 (GRCm39) S17T probably benign Het
Gpr26 T C 7: 131,586,026 (GRCm39) I332T probably benign Het
Greb1 T A 12: 16,773,412 (GRCm39) T221S probably benign Het
Haus5 A T 7: 30,358,508 (GRCm39) S289T probably damaging Het
Ighv6-4 T C 12: 114,370,221 (GRCm39) Y77C probably damaging Het
Il23r A T 6: 67,400,685 (GRCm39) D548E probably benign Het
Il23r A T 6: 67,463,235 (GRCm39) F86Y possibly damaging Het
Inppl1 A T 7: 101,480,210 (GRCm39) M424K probably benign Het
Jam3 A G 9: 27,010,184 (GRCm39) Y267H probably damaging Het
Lrrc37 T C 11: 103,510,990 (GRCm39) N326S unknown Het
Mms19 A T 19: 41,951,857 (GRCm39) M160K probably damaging Het
Muc2 CGTG CGTGTG 7: 141,699,185 (GRCm38) probably null Het
Mup5 A G 4: 61,751,237 (GRCm39) L137P probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Ntrk2 G A 13: 59,022,184 (GRCm39) S413N probably damaging Het
Nuak2 C A 1: 132,259,941 (GRCm39) T573N probably benign Het
Or4m1 A T 14: 50,557,575 (GRCm39) I239K probably benign Het
Or52h9 G A 7: 104,202,563 (GRCm39) V146M probably benign Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Pclo T A 5: 14,842,086 (GRCm39) I4787N unknown Het
Pde8a G T 7: 80,973,878 (GRCm39) V612L probably benign Het
Pear1 A T 3: 87,696,107 (GRCm39) probably null Het
Pgbd1 A G 13: 21,607,688 (GRCm39) Y169H probably damaging Het
Pkd1l1 A G 11: 8,786,448 (GRCm39) probably benign Het
Prkag3 C T 1: 74,783,879 (GRCm39) probably null Het
Rsph9 A T 17: 46,455,050 (GRCm39) S9T possibly damaging Het
Rxfp1 A T 3: 79,612,876 (GRCm39) probably null Het
Senp7 A G 16: 55,996,189 (GRCm39) E756G probably damaging Het
Serpina1e G T 12: 103,915,450 (GRCm39) T252K probably benign Het
Sipa1l1 T A 12: 82,484,510 (GRCm39) S1555T probably benign Het
Slain1 T C 14: 103,932,711 (GRCm39) S432P probably damaging Het
Slc37a2 A T 9: 37,144,418 (GRCm39) probably null Het
Thg1l C T 11: 45,845,018 (GRCm39) R18Q probably damaging Het
Tnn A G 1: 159,943,907 (GRCm39) probably benign Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Tshz3 A G 7: 36,470,842 (GRCm39) T944A probably damaging Het
Ttn C G 2: 76,684,774 (GRCm39) probably benign Het
Ythdc2 T C 18: 44,973,331 (GRCm39) S323P possibly damaging Het
Zfp827 A G 8: 79,786,939 (GRCm39) N35S probably damaging Het
Other mutations in Car5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0544:Car5b UTSW X 162,762,297 (GRCm39) missense probably damaging 1.00
R0545:Car5b UTSW X 162,762,297 (GRCm39) missense probably damaging 1.00
R0546:Car5b UTSW X 162,762,297 (GRCm39) missense probably damaging 1.00
R0548:Car5b UTSW X 162,762,297 (GRCm39) missense probably damaging 1.00
R1497:Car5b UTSW X 162,771,400 (GRCm39) missense probably benign 0.31
R1863:Car5b UTSW X 162,774,369 (GRCm39) missense probably damaging 0.99
R7369:Car5b UTSW X 162,797,836 (GRCm39) missense probably benign 0.18
Z1176:Car5b UTSW X 162,783,306 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- GTCTCCCGGTCTTTGCTTTACAAGAG -3'
(R):5'- TGCTGTCACACAACCATGCCAG -3'

Sequencing Primer
(F):5'- TTTGAAATGTTACCCAAAAAAGGAAG -3'
(R):5'- ggaaacagaagggggtgg -3'
Posted On 2013-06-11