Incidental Mutation 'IGL02347:Car12'
ID 289338
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car12
Ensembl Gene ENSMUSG00000032373
Gene Name carbonic anhydrase 12
Synonyms CA XII, 2310047E01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02347
Quality Score
Status
Chromosome 9
Chromosomal Location 66620968-66674127 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 66671629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 352 (V352D)
Ref Sequence ENSEMBL: ENSMUSP00000071786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071889] [ENSMUST00000085420] [ENSMUST00000134829]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000071889
AA Change: V352D

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000071786
Gene: ENSMUSG00000032373
AA Change: V352D

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Carb_anhydrase 32 290 8.86e-126 SMART
transmembrane domain 305 327 N/A INTRINSIC
low complexity region 328 338 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000085420
AA Change: V342D

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000082541
Gene: ENSMUSG00000032373
AA Change: V342D

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Carb_anhydrase 32 290 8.86e-126 SMART
transmembrane domain 295 317 N/A INTRINSIC
low complexity region 318 328 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134829
SMART Domains Protein: ENSMUSP00000118030
Gene: ENSMUSG00000032373

DomainStartEndE-ValueType
Carb_anhydrase 1 153 3.06e-15 SMART
transmembrane domain 168 190 N/A INTRINSIC
low complexity region 191 201 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a membrane-bound member of the alpha carbonic anhydrase family of enzymes that catalyze the reversible hydration of carbon dioxide to bicarbonate. These proteins 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a transposon-induced mutation that inactivates this gene display reduced fitness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik T A 17: 48,452,835 (GRCm39) K35* probably null Het
Adad2 G T 8: 120,343,408 (GRCm39) G546V probably damaging Het
Bccip A G 7: 133,311,105 (GRCm39) K7E probably benign Het
C8b G A 4: 104,644,151 (GRCm39) E273K probably benign Het
Cyp2d11 G A 15: 82,274,681 (GRCm39) R299C probably benign Het
Dnah10 A C 5: 124,910,487 (GRCm39) probably null Het
Eddm13 A G 7: 6,272,883 (GRCm39) I79M possibly damaging Het
Egf A T 3: 129,472,026 (GRCm39) N1199K probably benign Het
Ehbp1l1 A G 19: 5,769,600 (GRCm39) W568R possibly damaging Het
Eif1ad14 T C 12: 87,886,359 (GRCm39) D90G probably damaging Het
Emc3 A G 6: 113,497,533 (GRCm39) M106T possibly damaging Het
Fam13b T C 18: 34,587,757 (GRCm39) K514E probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Frg2f1 A C 4: 119,387,929 (GRCm39) L190R probably damaging Het
Frmpd1 A G 4: 45,270,023 (GRCm39) probably null Het
Glis3 A G 19: 28,509,283 (GRCm39) F234L probably benign Het
Grap2 T C 15: 80,530,557 (GRCm39) probably benign Het
H2-M10.2 T A 17: 36,596,505 (GRCm39) E113D probably benign Het
Itgb6 T C 2: 60,441,756 (GRCm39) T685A probably benign Het
Mrpl19 A T 6: 81,938,992 (GRCm39) M270K probably damaging Het
Msantd4 G T 9: 4,384,734 (GRCm39) probably benign Het
Msr1 G T 8: 40,085,778 (GRCm39) T34K probably damaging Het
Npc1 C T 18: 12,332,691 (GRCm39) V780M probably benign Het
Nsun6 A G 2: 15,034,831 (GRCm39) probably benign Het
Nt5c2 A G 19: 46,912,695 (GRCm39) probably benign Het
Nucb2 A C 7: 116,135,113 (GRCm39) Q340P probably benign Het
Nup50l A T 6: 96,142,511 (GRCm39) Y178N probably damaging Het
Or2l13b A G 16: 19,349,529 (GRCm39) L47P probably damaging Het
Or3a1b C T 11: 74,012,397 (GRCm39) T94I probably benign Het
Osgin1 A G 8: 120,172,277 (GRCm39) E357G probably benign Het
Pabpc6 C T 17: 9,887,993 (GRCm39) R186K probably benign Het
Pex1 A G 5: 3,653,350 (GRCm39) K83R probably damaging Het
Ppid A G 3: 79,502,526 (GRCm39) I82V probably benign Het
Pygl C T 12: 70,248,666 (GRCm39) G318S probably benign Het
Rcn1 A T 2: 105,229,471 (GRCm39) V27E probably benign Het
Rnaseh1 A T 12: 28,707,629 (GRCm39) probably benign Het
Rnf148 A G 6: 23,654,729 (GRCm39) V89A probably benign Het
Siglecf G A 7: 43,001,145 (GRCm39) V38I possibly damaging Het
Slc13a5 T C 11: 72,149,780 (GRCm39) probably null Het
Slc26a4 C T 12: 31,578,853 (GRCm39) probably benign Het
Sos2 A T 12: 69,643,520 (GRCm39) D953E probably benign Het
Strbp A C 2: 37,535,660 (GRCm39) V16G probably benign Het
Sycp1 A T 3: 102,800,863 (GRCm39) M567K probably benign Het
Tedc2 A C 17: 24,439,584 (GRCm39) V19G probably damaging Het
Tjp1 A G 7: 64,950,812 (GRCm39) probably null Het
Ttn A T 2: 76,539,564 (GRCm39) V26147E probably damaging Het
Vmn1r86 A G 7: 12,836,574 (GRCm39) S51P probably damaging Het
Vmn2r83 A G 10: 79,316,067 (GRCm39) T488A possibly damaging Het
Zfp541 A G 7: 15,817,390 (GRCm39) Y945C probably damaging Het
Other mutations in Car12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01915:Car12 APN 9 66,670,552 (GRCm39) missense possibly damaging 0.73
IGL02280:Car12 APN 9 66,653,857 (GRCm39) missense probably damaging 1.00
IGL02582:Car12 APN 9 66,621,159 (GRCm39) missense probably benign
IGL02612:Car12 APN 9 66,669,706 (GRCm39) missense probably damaging 0.97
IGL02645:Car12 APN 9 66,654,961 (GRCm39) missense probably benign 0.42
LCD18:Car12 UTSW 9 66,668,958 (GRCm39) intron probably benign
R2033:Car12 UTSW 9 66,624,840 (GRCm39) critical splice acceptor site probably null
R2118:Car12 UTSW 9 66,621,174 (GRCm39) missense probably benign 0.05
R2263:Car12 UTSW 9 66,654,913 (GRCm39) nonsense probably null
R3111:Car12 UTSW 9 66,661,008 (GRCm39) missense probably damaging 1.00
R3710:Car12 UTSW 9 66,658,260 (GRCm39) missense probably damaging 1.00
R3872:Car12 UTSW 9 66,624,834 (GRCm39) splice site probably benign
R3875:Car12 UTSW 9 66,624,834 (GRCm39) splice site probably benign
R4898:Car12 UTSW 9 66,671,600 (GRCm39) nonsense probably null
R5046:Car12 UTSW 9 66,653,895 (GRCm39) missense probably benign
R6238:Car12 UTSW 9 66,661,008 (GRCm39) missense probably damaging 1.00
R6788:Car12 UTSW 9 66,659,244 (GRCm39) missense probably damaging 0.98
R7105:Car12 UTSW 9 66,659,688 (GRCm39) missense probably damaging 1.00
R7231:Car12 UTSW 9 66,659,599 (GRCm39) missense probably damaging 0.99
R7380:Car12 UTSW 9 66,654,945 (GRCm39) missense probably benign 0.03
R8302:Car12 UTSW 9 66,654,879 (GRCm39) missense probably benign
R9781:Car12 UTSW 9 66,624,844 (GRCm39) missense probably benign 0.06
X0019:Car12 UTSW 9 66,659,239 (GRCm39) missense probably damaging 1.00
Z1177:Car12 UTSW 9 66,659,236 (GRCm39) missense probably benign 0.31
Posted On 2015-04-16