Incidental Mutation 'R8302:Car12'
ID 646454
Institutional Source Beutler Lab
Gene Symbol Car12
Ensembl Gene ENSMUSG00000032373
Gene Name carbonic anhydrase 12
Synonyms CA XII, 2310047E01Rik
MMRRC Submission 067790-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8302 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 66620968-66674127 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66654879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 103 (D103G)
Ref Sequence ENSEMBL: ENSMUSP00000071786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071889] [ENSMUST00000085420] [ENSMUST00000134829]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000071889
AA Change: D103G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071786
Gene: ENSMUSG00000032373
AA Change: D103G

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 probably benign
Transcript: ENSMUST00000085420
AA Change: D103G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082541
Gene: ENSMUSG00000032373
AA Change: D103G

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C T 11: 109,853,406 (GRCm39) probably null Het
Ank3 T C 10: 69,840,810 (GRCm39) S1937P possibly damaging Het
Atg5 T A 10: 44,162,115 (GRCm39) D10E probably benign Het
Cpa3 A G 3: 20,276,316 (GRCm39) Y306H probably damaging Het
Cyp2c40 A G 19: 39,796,066 (GRCm39) V104A probably damaging Het
Cyp2c66 A T 19: 39,165,078 (GRCm39) H353L probably damaging Het
Cyp2d22 A G 15: 82,256,021 (GRCm39) probably null Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Exph5 A G 9: 53,287,776 (GRCm39) E1619G possibly damaging Het
Frmd5 T A 2: 121,378,060 (GRCm39) T435S unknown Het
Gm3371 T C 14: 44,641,181 (GRCm39) R128G Het
Gper1 A G 5: 139,412,030 (GRCm39) D125G probably benign Het
Il17re C A 6: 113,443,280 (GRCm39) S340* probably null Het
Kazald1 T A 19: 45,065,278 (GRCm39) L53Q probably damaging Het
Kdm3b A T 18: 34,967,388 (GRCm39) H1731L probably damaging Het
Kif20a T C 18: 34,765,030 (GRCm39) S755P probably damaging Het
Lrch1 T C 14: 75,032,772 (GRCm39) N526S probably benign Het
Map3k8 T C 18: 4,334,064 (GRCm39) I343V probably damaging Het
Nabp1 A T 1: 51,511,498 (GRCm39) F140L probably benign Het
Ncor1 A G 11: 62,224,681 (GRCm39) S860P probably benign Het
Ndufaf5 T A 2: 140,030,698 (GRCm39) Y195N possibly damaging Het
Nsfl1c T C 2: 151,346,056 (GRCm39) L157P probably damaging Het
Or2aj5 T A 16: 19,425,116 (GRCm39) I100L probably benign Het
Or4c104 T A 2: 88,586,987 (GRCm39) I11F possibly damaging Het
Or5ak24 T A 2: 85,260,430 (GRCm39) T248S possibly damaging Het
Pcdh10 A G 3: 45,335,933 (GRCm39) Y749C probably damaging Het
Plcz1 T A 6: 139,974,163 (GRCm39) K93I probably damaging Het
Plpbp T C 8: 27,539,216 (GRCm39) S109P Het
Prkdc G A 16: 15,653,946 (GRCm39) R3901H probably damaging Het
Psma6 A T 12: 55,456,966 (GRCm39) Y103F probably benign Het
Ptpn3 A G 4: 57,218,514 (GRCm39) F650L probably benign Het
Pxk T C 14: 8,164,094 (GRCm38) F562S probably damaging Het
Rbl2 A G 8: 91,812,073 (GRCm39) D214G probably damaging Het
Rgs17 C T 10: 5,812,525 (GRCm39) C58Y possibly damaging Het
Rnf6 A T 5: 146,148,334 (GRCm39) V228E probably benign Het
Sardh T C 2: 27,105,122 (GRCm39) D667G probably benign Het
Slc12a1 T A 2: 125,032,209 (GRCm39) V620D probably damaging Het
Slc39a7 A G 17: 34,249,686 (GRCm39) I153T probably damaging Het
Slc5a11 T C 7: 122,847,162 (GRCm39) V125A probably damaging Het
Slc9c1 T C 16: 45,368,058 (GRCm39) F216L probably benign Het
Strip1 A T 3: 107,533,024 (GRCm39) I208N probably damaging Het
Top1 T C 2: 160,545,496 (GRCm39) M288T probably damaging Het
Tpbgl G T 7: 99,274,774 (GRCm39) A361E probably damaging Het
Trmt2a T C 16: 18,067,813 (GRCm39) V162A probably damaging Het
Wdr35 T C 12: 9,078,110 (GRCm39) I1167T probably benign Het
Wdr76 C A 2: 121,341,044 (GRCm39) H30N probably benign Het
Zan A G 5: 137,407,923 (GRCm39) S3624P unknown Het
Zc3h7a T C 16: 10,955,249 (GRCm39) K942E probably damaging Het
Zfp292 A G 4: 34,810,893 (GRCm39) V722A possibly damaging Het
Zfp943 A G 17: 22,211,091 (GRCm39) H59R probably benign 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
IGL02347:Car12 APN 9 66,671,629 (GRCm39) missense possibly damaging 0.62
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
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
Predicted Primers PCR Primer
(F):5'- TTGGTGCCACTACAGTTACACTAG -3'
(R):5'- CTACTCTATCCCAGTGGCTGTG -3'

Sequencing Primer
(F):5'- TGCCACTACAGTTACACTAGGGAAAG -3'
(R):5'- CTATCCCAGTGGCTGTGGAAGG -3'
Posted On 2020-09-02