Incidental Mutation 'R7010:Car2'
ID 544952
Institutional Source Beutler Lab
Gene Symbol Car2
Ensembl Gene ENSMUSG00000027562
Gene Name carbonic anhydrase 2
Synonyms CAII, Car-2, CA II, Ltw-5, Lvtw-5
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.467) question?
Stock # R7010 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 14951333-14965830 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 14965113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 249 (P249L)
Ref Sequence ENSEMBL: ENSMUSP00000029078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029078] [ENSMUST00000192609]
AlphaFold P00920
Predicted Effect possibly damaging
Transcript: ENSMUST00000029078
AA Change: P249L

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029078
Gene: ENSMUSG00000027562
AA Change: P249L

DomainStartEndE-ValueType
Carb_anhydrase 5 259 1.2e-136 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192609
SMART Domains Protein: ENSMUSP00000141876
Gene: ENSMUSG00000027562

DomainStartEndE-ValueType
Carb_anhydrase 5 115 8.2e-13 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
PHENOTYPE: Homozygous mutant mice are growth retarded, display renal tubular acidosis, but mutants have not been recovered that display osteopetrosis as found in human CA-II deficiency. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AL592187.3 A T 15: 77,486,797 (GRCm39) Y58F probably benign Het
Ano10 T C 9: 122,082,190 (GRCm39) T494A probably damaging Het
Asah2 A T 19: 32,031,954 (GRCm39) F72I probably benign Het
Atat1 T C 17: 36,219,522 (GRCm39) D114G probably damaging Het
Atp6v1e2 C T 17: 87,251,773 (GRCm39) M208I probably benign Het
Bicd1 A G 6: 149,396,113 (GRCm39) Y161C probably damaging Het
Camk2g T C 14: 20,791,512 (GRCm39) S410G probably benign Het
Cdh23 T G 10: 60,366,770 (GRCm39) I237L probably benign Het
Dlat T A 9: 50,569,274 (GRCm39) K176N probably damaging Het
Dnajc12 T A 10: 63,233,059 (GRCm39) C67S probably benign Het
Fat1 G T 8: 45,406,386 (GRCm39) E1046* probably null Het
Gmip G A 8: 70,264,050 (GRCm39) A137T probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Grk6 A G 13: 55,598,113 (GRCm39) I62V possibly damaging Het
Hook1 G T 4: 95,903,048 (GRCm39) L512F probably damaging Het
Ighe T C 12: 113,236,761 (GRCm39) T36A Het
Il17rc A G 6: 113,456,249 (GRCm39) N338S possibly damaging Het
Itgb6 T C 2: 60,480,322 (GRCm39) Y338C probably damaging Het
Kcnd2 A G 6: 21,216,707 (GRCm39) Y137C probably damaging Het
L3mbtl3 T A 10: 26,158,759 (GRCm39) probably null Het
Lcn3 T C 2: 25,656,068 (GRCm39) F41S probably damaging Het
Map3k8 T C 18: 4,334,060 (GRCm39) H344R probably damaging Het
Marf1 A T 16: 13,954,865 (GRCm39) I884N probably damaging Het
Nalcn G A 14: 123,530,877 (GRCm39) T1387I probably damaging Het
Nrros T C 16: 31,962,398 (GRCm39) T540A probably damaging Het
Or5p63 A T 7: 107,811,349 (GRCm39) I129N probably damaging Het
Pank2 T C 2: 131,122,293 (GRCm39) Y273H probably benign Het
Pgrmc2 A G 3: 41,037,068 (GRCm39) V121A probably damaging Het
Phldb2 C T 16: 45,571,868 (GRCm39) V1175M probably damaging Het
Prss3b A C 6: 41,009,247 (GRCm39) S196A probably benign Het
Ranbp2 A G 10: 58,290,393 (GRCm39) probably null Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Syt7 A G 19: 10,395,354 (GRCm39) T55A probably benign Het
Tfcp2l1 T C 1: 118,581,457 (GRCm39) S137P probably damaging Het
Tom1 T A 8: 75,778,603 (GRCm39) V140D probably damaging Het
Ttc23l T G 15: 10,515,224 (GRCm39) I385L probably damaging Het
Vmn1r122 A G 7: 20,867,896 (GRCm39) V53A probably damaging Het
Vmn2r1 C T 3: 64,012,146 (GRCm39) T669I probably benign Het
Vmn2r86 A G 10: 130,291,726 (GRCm39) L13P probably benign Het
Zfp958 T C 8: 4,678,377 (GRCm39) I134T probably benign Het
Other mutations in Car2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Car2 APN 3 14,960,688 (GRCm39) critical splice donor site probably null
IGL02618:Car2 APN 3 14,963,032 (GRCm39) missense probably benign 0.00
IGL03247:Car2 APN 3 14,952,999 (GRCm39) missense probably damaging 1.00
IGL03342:Car2 APN 3 14,960,629 (GRCm39) missense probably benign 0.21
R0257:Car2 UTSW 3 14,965,037 (GRCm39) missense probably benign 0.00
R1260:Car2 UTSW 3 14,960,640 (GRCm39) missense probably damaging 1.00
R4409:Car2 UTSW 3 14,960,162 (GRCm39) missense probably damaging 1.00
R4527:Car2 UTSW 3 14,963,065 (GRCm39) missense probably damaging 1.00
R4681:Car2 UTSW 3 14,960,624 (GRCm39) nonsense probably null
R5677:Car2 UTSW 3 14,963,115 (GRCm39) missense possibly damaging 0.92
R6343:Car2 UTSW 3 14,953,025 (GRCm39) missense probably damaging 1.00
R6530:Car2 UTSW 3 14,961,791 (GRCm39) missense probably benign 0.05
R6786:Car2 UTSW 3 14,951,710 (GRCm39) start gained probably benign
R7682:Car2 UTSW 3 14,953,025 (GRCm39) missense probably damaging 1.00
R7805:Car2 UTSW 3 14,965,130 (GRCm39) missense probably benign 0.00
R9086:Car2 UTSW 3 14,952,968 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- CCCCAATGAAGGCTGAACTTAAATC -3'
(R):5'- CTAAGTTGACCACTGGCCTG -3'

Sequencing Primer
(F):5'- TTCCGTACGCTGAACTTC -3'
(R):5'- ACATGAGACACCTGGGTCTTG -3'
Posted On 2019-05-13