Incidental Mutation 'IGL03152:Car14'
ID 411122
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car14
Ensembl Gene ENSMUSG00000038526
Gene Name carbonic anhydrase 14
Synonyms CA XIV
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03152
Quality Score
Status
Chromosome 3
Chromosomal Location 95805080-95812003 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 95806157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 301 (C301W)
Ref Sequence ENSEMBL: ENSMUSP00000036983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015894] [ENSMUST00000036181] [ENSMUST00000056710] [ENSMUST00000147962] [ENSMUST00000197081]
AlphaFold Q9WVT6
PDB Structure Crystal Structure of the Extracellular Domain of Murine Carbonic Anhydrase XIV [X-RAY DIFFRACTION]
Crystal Structure of the Extracellular Domain of Murine Carbonic Anhydrase XIV in Complex with Acetazolamide [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000015894
SMART Domains Protein: ENSMUSP00000015894
Gene: ENSMUSG00000015750

DomainStartEndE-ValueType
Pfam:Aph-1 2 246 7.3e-98 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000036181
AA Change: C301W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036983
Gene: ENSMUSG00000038526
AA Change: C301W

DomainStartEndE-ValueType
Carb_anhydrase 22 278 2.43e-123 SMART
transmembrane domain 290 312 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000056710
SMART Domains Protein: ENSMUSP00000058846
Gene: ENSMUSG00000015750

DomainStartEndE-ValueType
Pfam:Aph-1 2 239 1.2e-96 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126722
Predicted Effect probably benign
Transcript: ENSMUST00000147962
SMART Domains Protein: ENSMUSP00000117464
Gene: ENSMUSG00000038526

DomainStartEndE-ValueType
Carb_anhydrase 8 171 1.79e-39 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149202
Predicted Effect probably benign
Transcript: ENSMUST00000197081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197232
Coding Region Coverage
Validation Efficiency
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 XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and display normal growth, health and fertility. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted, knock-out(1) Gene trapped(4)
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna2d1 T A 5: 16,527,566 (GRCm39) N540K probably benign Het
Caln1 A G 5: 130,646,693 (GRCm39) E43G probably damaging Het
Clpx G A 9: 65,217,458 (GRCm39) V9I possibly damaging Het
Edar A G 10: 58,445,817 (GRCm39) F249S possibly damaging Het
Fads2b A G 2: 85,330,648 (GRCm39) S220P probably damaging Het
Fhip2a C A 19: 57,367,264 (GRCm39) T269K probably damaging Het
Gm4799 A G 10: 82,790,797 (GRCm39) noncoding transcript Het
Grk4 T C 5: 34,902,701 (GRCm39) S418P probably damaging Het
Kcnh4 A G 11: 100,636,598 (GRCm39) S774P probably benign Het
Kif23 A G 9: 61,837,058 (GRCm39) probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Myef2l A T 3: 10,153,334 (GRCm39) K34N probably benign Het
Or5al1 A T 2: 85,990,030 (GRCm39) I228N possibly damaging Het
Pcgf6 A T 19: 47,037,344 (GRCm39) probably benign Het
Ryr2 G A 13: 11,868,036 (GRCm39) R265C probably damaging Het
Smgc A G 15: 91,725,625 (GRCm39) K2R possibly damaging Het
Stx5a T C 19: 8,727,138 (GRCm39) probably null Het
Syne2 A T 12: 76,012,486 (GRCm39) N2560I probably benign Het
Tuba3a A T 6: 125,258,300 (GRCm39) L230Q probably damaging Het
Tubb4b-ps1 A G 5: 7,230,001 (GRCm39) probably benign Het
Zfp217 A G 2: 169,960,972 (GRCm39) S452P probably damaging Het
Zfp764l1 A G 7: 126,991,469 (GRCm39) C173R probably damaging Het
Zzef1 G A 11: 72,814,008 (GRCm39) probably null Het
Other mutations in Car14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Car14 APN 3 95,806,128 (GRCm39) missense probably damaging 1.00
IGL01287:Car14 APN 3 95,806,871 (GRCm39) missense possibly damaging 0.68
IGL01900:Car14 APN 3 95,808,533 (GRCm39) missense probably benign 0.00
IGL02402:Car14 APN 3 95,806,870 (GRCm39) missense possibly damaging 0.92
R0109:Car14 UTSW 3 95,806,763 (GRCm39) missense probably benign 0.00
R1729:Car14 UTSW 3 95,808,560 (GRCm39) missense possibly damaging 0.90
R4521:Car14 UTSW 3 95,811,690 (GRCm39) utr 5 prime probably benign
R4776:Car14 UTSW 3 95,806,185 (GRCm39) missense probably benign 0.30
R5709:Car14 UTSW 3 95,806,300 (GRCm39) missense possibly damaging 0.60
R6358:Car14 UTSW 3 95,805,487 (GRCm39) missense possibly damaging 0.93
R6895:Car14 UTSW 3 95,805,472 (GRCm39) missense probably benign
R7217:Car14 UTSW 3 95,806,629 (GRCm39) missense probably damaging 1.00
R7648:Car14 UTSW 3 95,805,507 (GRCm39) missense probably benign 0.01
R7763:Car14 UTSW 3 95,811,684 (GRCm39) start codon destroyed probably null 0.01
R8530:Car14 UTSW 3 95,807,670 (GRCm39) missense probably benign
X0026:Car14 UTSW 3 95,806,521 (GRCm39) unclassified probably benign
X0064:Car14 UTSW 3 95,808,411 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02