Incidental Mutation 'IGL02347:Car12'
ID289338
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car12
Ensembl Gene ENSMUSG00000032373
Gene Namecarbonic anhydrase 12
Synonyms2310047E01Rik, CA XII
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02347
Quality Score
Status
Chromosome9
Chromosomal Location66713686-66766845 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 66764347 bp
ZygosityHeterozygous
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]
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
1700123L14Rik A T 6: 96,165,530 Y178N probably damaging Het
9830107B12Rik T A 17: 48,145,664 K35* probably null Het
Adad2 G T 8: 119,616,669 G546V probably damaging Het
Bccip A G 7: 133,709,376 K7E probably benign Het
C8b G A 4: 104,786,954 E273K probably benign Het
Cyp2d11 G A 15: 82,390,480 R299C probably benign Het
Dnah10 A C 5: 124,833,423 probably null Het
Egf A T 3: 129,678,377 N1199K probably benign Het
Ehbp1l1 A G 19: 5,719,572 W568R possibly damaging Het
Emc3 A G 6: 113,520,572 M106T possibly damaging Het
Epp13 A G 7: 6,269,884 I79M possibly damaging Het
Fam13b T C 18: 34,454,704 K514E probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Frg2f1 A C 4: 119,530,732 L190R probably damaging Het
Frmpd1 A G 4: 45,270,023 probably null Het
Glis3 A G 19: 28,531,883 F234L probably benign Het
Gm2035 T C 12: 87,919,589 D90G probably damaging Het
Grap2 T C 15: 80,646,356 probably benign Het
H2-M10.2 T A 17: 36,285,613 E113D probably benign Het
Itgb6 T C 2: 60,611,412 T685A probably benign Het
Mrpl19 A T 6: 81,962,011 M270K probably damaging Het
Msantd4 G T 9: 4,384,734 probably benign Het
Msr1 G T 8: 39,632,737 T34K probably damaging Het
Npc1 C T 18: 12,199,634 V780M probably benign Het
Nsun6 A G 2: 15,030,020 probably benign Het
Nt5c2 A G 19: 46,924,256 probably benign Het
Nucb2 A C 7: 116,535,878 Q340P probably benign Het
Olfr168 A G 16: 19,530,779 L47P probably damaging Het
Olfr401 C T 11: 74,121,571 T94I probably benign Het
Osgin1 A G 8: 119,445,538 E357G probably benign Het
Pabpc6 C T 17: 9,669,064 R186K probably benign Het
Pex1 A G 5: 3,603,350 K83R probably damaging Het
Ppid A G 3: 79,595,219 I82V probably benign Het
Pygl C T 12: 70,201,892 G318S probably benign Het
Rcn1 A T 2: 105,399,126 V27E probably benign Het
Rnaseh1 A T 12: 28,657,630 probably benign Het
Rnf148 A G 6: 23,654,730 V89A probably benign Het
Siglecf G A 7: 43,351,721 V38I possibly damaging Het
Slc13a5 T C 11: 72,258,954 probably null Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Sos2 A T 12: 69,596,746 D953E probably benign Het
Strbp A C 2: 37,645,648 V16G probably benign Het
Sycp1 A T 3: 102,893,547 M567K probably benign Het
Tedc2 A C 17: 24,220,610 V19G probably damaging Het
Tjp1 A G 7: 65,301,064 probably null Het
Ttn A T 2: 76,709,220 V26147E probably damaging Het
Vmn1r86 A G 7: 13,102,647 S51P probably damaging Het
Vmn2r83 A G 10: 79,480,233 T488A possibly damaging Het
Zfp541 A G 7: 16,083,465 Y945C probably damaging Het
Other mutations in Car12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01915:Car12 APN 9 66763270 missense possibly damaging 0.73
IGL02280:Car12 APN 9 66746575 missense probably damaging 1.00
IGL02582:Car12 APN 9 66713877 missense probably benign
IGL02612:Car12 APN 9 66762424 missense probably damaging 0.97
IGL02645:Car12 APN 9 66747679 missense probably benign 0.42
LCD18:Car12 UTSW 9 66761676 intron probably benign
R2033:Car12 UTSW 9 66717558 critical splice acceptor site probably null
R2118:Car12 UTSW 9 66713892 missense probably benign 0.05
R2263:Car12 UTSW 9 66747631 nonsense probably null
R3111:Car12 UTSW 9 66753726 missense probably damaging 1.00
R3710:Car12 UTSW 9 66750978 missense probably damaging 1.00
R3872:Car12 UTSW 9 66717552 splice site probably benign
R3875:Car12 UTSW 9 66717552 splice site probably benign
R4898:Car12 UTSW 9 66764318 nonsense probably null
R5046:Car12 UTSW 9 66746613 missense probably benign
R6238:Car12 UTSW 9 66753726 missense probably damaging 1.00
R6788:Car12 UTSW 9 66751962 missense probably damaging 0.98
R7105:Car12 UTSW 9 66752406 missense probably damaging 1.00
R7231:Car12 UTSW 9 66752317 missense probably damaging 0.99
R7380:Car12 UTSW 9 66747663 missense probably benign 0.03
X0019:Car12 UTSW 9 66751957 missense probably damaging 1.00
Posted On2015-04-16