Incidental Mutation 'IGL02402:Car14'
ID291932
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car14
Ensembl Gene ENSMUSG00000038526
Gene Namecarbonic anhydrase 14
SynonymsCA XIV
Accession Numbers

Genbank: NM_011797; MGI: 1344341

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02402
Quality Score
Status
Chromosome3
Chromosomal Location95897768-95904691 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 95899558 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 198 (V198A)
Ref Sequence ENSEMBL: ENSMUSP00000036983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015894] [ENSMUST00000036181] [ENSMUST00000056710] [ENSMUST00000147962] [ENSMUST00000197081]
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 possibly damaging
Transcript: ENSMUST00000036181
AA Change: V198A

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036983
Gene: ENSMUSG00000038526
AA Change: V198A

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,559,424 F568L probably benign Het
Arntl2 T C 6: 146,809,768 V90A possibly damaging Het
AW112010 T A 19: 11,048,377 noncoding transcript Het
Bbs4 A T 9: 59,330,446 L205H probably benign Het
C2cd2l T C 9: 44,316,581 K121R probably benign Het
Cd22 G T 7: 30,877,530 H117Q possibly damaging Het
Celf1 T A 2: 90,998,723 I45N probably damaging Het
Cluh T C 11: 74,657,171 S103P probably damaging Het
Cyp39a1 T A 17: 43,691,722 L276Q probably benign Het
Ddx27 T G 2: 167,015,325 probably benign Het
Defb4 A T 8: 19,201,263 I49F possibly damaging Het
Dock8 C A 19: 25,078,145 T157K probably benign Het
Dpp6 T C 5: 27,634,543 V352A probably damaging Het
Elmo2 C T 2: 165,297,392 E412K probably damaging Het
Eme1 G A 11: 94,650,907 P30S possibly damaging Het
Espnl G T 1: 91,344,813 A632S probably benign Het
Gfod1 C A 13: 43,200,735 A255S probably benign Het
Helz2 T A 2: 181,230,911 K2432M probably damaging Het
Idua T C 5: 108,679,791 L157P probably damaging Het
Ifi207 T A 1: 173,727,593 D848V probably damaging Het
Jag1 C T 2: 137,085,938 S851N possibly damaging Het
Kat6b T A 14: 21,631,347 F571I probably damaging Het
Lrrc74b G A 16: 17,558,164 probably benign Het
Mst1r A G 9: 107,916,827 K1160E probably damaging Het
Muc19 C A 15: 91,893,998 noncoding transcript Het
Nrg4 G A 9: 55,227,914 probably benign Het
Ociad1 T C 5: 73,300,694 I12T possibly damaging Het
Olfr98 A G 17: 37,263,220 V148A possibly damaging Het
Pold3 A G 7: 100,100,411 probably benign Het
Psmd5 T C 2: 34,857,772 E291G probably damaging Het
Ptpn23 A G 9: 110,393,713 V92A possibly damaging Het
Rab44 T A 17: 29,140,516 H559Q probably benign Het
Rbm6 T C 9: 107,852,852 D199G probably damaging Het
Rps18-ps3 C T 8: 107,263,122 noncoding transcript Het
Sept10 T C 10: 59,170,936 T93A probably benign Het
Slmap T C 14: 26,463,710 T111A probably damaging Het
Spata25 C T 2: 164,828,457 M1I probably null Het
Spink5 T A 18: 43,967,104 C63S probably damaging Het
Sycp3 T C 10: 88,466,563 probably benign Het
Tarbp1 A G 8: 126,450,828 probably benign Het
Thbs2 A T 17: 14,671,454 N940K probably benign Het
Tmem106b A T 6: 13,081,601 Q169L possibly damaging Het
Trpm6 G T 19: 18,786,756 C242F probably benign Het
Ush2a T A 1: 188,267,108 M205K probably benign Het
Utp18 A C 11: 93,883,791 probably benign Het
Other mutations in Car14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Car14 APN 3 95898816 missense probably damaging 1.00
IGL01287:Car14 APN 3 95899559 missense possibly damaging 0.68
IGL01900:Car14 APN 3 95901221 missense probably benign 0.00
IGL03152:Car14 APN 3 95898845 missense probably damaging 1.00
R0109:Car14 UTSW 3 95899451 missense probably benign 0.00
R1729:Car14 UTSW 3 95901248 missense possibly damaging 0.90
R4521:Car14 UTSW 3 95904378 utr 5 prime probably benign
R4776:Car14 UTSW 3 95898873 missense probably benign 0.30
R5709:Car14 UTSW 3 95898988 missense possibly damaging 0.60
R6358:Car14 UTSW 3 95898175 missense possibly damaging 0.93
R6895:Car14 UTSW 3 95898160 missense probably benign
R7217:Car14 UTSW 3 95899317 missense probably damaging 1.00
R7648:Car14 UTSW 3 95898195 missense probably benign 0.01
R7763:Car14 UTSW 3 95904372 start codon destroyed probably null 0.01
X0026:Car14 UTSW 3 95899209 unclassified probably benign
X0064:Car14 UTSW 3 95901099 missense probably damaging 1.00
Posted On2015-04-16