Incidental Mutation 'R2680:Car11'
ID 250918
Institutional Source Beutler Lab
Gene Symbol Car11
Ensembl Gene ENSMUSG00000003273
Gene Name carbonic anhydrase 11
Synonyms CA-RP XI
MMRRC Submission 040433-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R2680 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 45699843-45704682 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45702485 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 113 (S113P)
Ref Sequence ENSEMBL: ENSMUSP00000003360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003360] [ENSMUST00000080885] [ENSMUST00000211357] [ENSMUST00000211513]
AlphaFold O70354
Predicted Effect probably benign
Transcript: ENSMUST00000003360
AA Change: S113P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003360
Gene: ENSMUSG00000003273
AA Change: S113P

signal peptide 1 23 N/A INTRINSIC
Carb_anhydrase 35 303 1.1e-62 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000080885
SMART Domains Protein: ENSMUSP00000079693
Gene: ENSMUSG00000059824

low complexity region 10 31 N/A INTRINSIC
low complexity region 71 98 N/A INTRINSIC
low complexity region 127 171 N/A INTRINSIC
BRLZ 253 317 5.17e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137294
AA Change: S135P
Predicted Effect probably benign
Transcript: ENSMUST00000209796
Predicted Effect probably benign
Transcript: ENSMUST00000210027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211259
Predicted Effect probably benign
Transcript: ENSMUST00000211357
Predicted Effect probably benign
Transcript: ENSMUST00000211513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211748
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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 XI is likely a secreted protein, however, radical changes at active site residues completely conserved in CA isozymes with catalytic activity, make it unlikely that it has carbonic anhydrase activity. It shares properties in common with two other acatalytic CA isoforms, CA VIII and CA X. CA XI is most abundantly expressed in brain, and may play a general role in the central nervous system. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430531B16Rik T C 7: 139,978,561 (GRCm38) D41G probably damaging Het
BC024139 A G 15: 76,121,739 (GRCm38) W421R probably damaging Het
Ccdc146 C T 5: 21,305,269 (GRCm38) A582T possibly damaging Het
Cct8l1 A G 5: 25,517,135 (GRCm38) T283A probably benign Het
Ckap5 A G 2: 91,588,698 (GRCm38) I1118V probably benign Het
Copa C T 1: 172,121,404 (GRCm38) Q1199* probably null Het
Cpd A T 11: 76,790,999 (GRCm38) N1140K probably benign Het
Cspp1 A G 1: 10,104,305 (GRCm38) D661G probably damaging Het
Dab2 A G 15: 6,436,993 (GRCm38) Q729R possibly damaging Het
Dnah9 T C 11: 66,033,925 (GRCm38) I2168V probably benign Het
Dync1h1 G A 12: 110,643,247 (GRCm38) R2821H probably damaging Het
Ercc5 T C 1: 44,156,973 (GRCm38) V42A probably benign Het
Evc A G 5: 37,310,237 (GRCm38) V566A probably benign Het
Fcrls T C 3: 87,257,349 (GRCm38) Y290C probably damaging Het
Frmd4a A G 2: 4,534,553 (GRCm38) R171G probably damaging Het
Galnt17 G A 5: 131,111,823 (GRCm38) P152L probably damaging Het
Gfi1 A G 5: 107,721,431 (GRCm38) L245P probably damaging Het
Heatr4 T C 12: 83,980,463 (GRCm38) K7E possibly damaging Het
Ifit3b A G 19: 34,612,305 (GRCm38) N294D probably benign Het
Ift74 A G 4: 94,653,028 (GRCm38) Y230C probably damaging Het
Igsf10 C T 3: 59,325,454 (GRCm38) V1953I probably benign Het
Ikzf5 T C 7: 131,396,761 (GRCm38) D14G probably damaging Het
Il12rb2 T A 6: 67,354,805 (GRCm38) T259S possibly damaging Het
Itgae T A 11: 73,114,926 (GRCm38) D305E probably damaging Het
Kif23 A C 9: 61,937,476 (GRCm38) D90E probably benign Het
Kprp A G 3: 92,824,463 (GRCm38) F427L unknown Het
Lmnb1 T A 18: 56,731,105 (GRCm38) Y261N probably damaging Het
Megf8 T C 7: 25,317,556 (GRCm38) V17A probably benign Het
Mfap4 T C 11: 61,487,231 (GRCm38) Y190H probably benign Het
Mlh1 T C 9: 111,236,017 (GRCm38) probably null Het
Mocos C A 18: 24,676,629 (GRCm38) Q430K probably damaging Het
Ndst2 A G 14: 20,724,754 (GRCm38) F794L probably damaging Het
Nedd4l A T 18: 65,163,130 (GRCm38) I197F possibly damaging Het
Nefm A G 14: 68,123,786 (GRCm38) L343P probably damaging Het
Nfatc4 A G 14: 55,832,834 (GRCm38) probably benign Het
Nlrp4a T A 7: 26,449,230 (GRCm38) probably null Het
Nlrp4f A T 13: 65,194,343 (GRCm38) L496* probably null Het
Nom1 T C 5: 29,443,417 (GRCm38) F654S probably damaging Het
Olfr730 A T 14: 50,186,847 (GRCm38) Y123* probably null Het
Pcdhac2 A G 18: 37,145,586 (GRCm38) K540E possibly damaging Het
Pde4dip T C 3: 97,701,617 (GRCm38) N1974S possibly damaging Het
Pik3c3 T C 18: 30,344,078 (GRCm38) probably null Het
Pik3ca T C 3: 32,443,885 (GRCm38) I492T probably benign Het
Pik3ca C T 3: 32,436,548 (GRCm38) R115* probably null Het
Ppp1ca G A 19: 4,194,595 (GRCm38) E218K possibly damaging Het
Prex1 G T 2: 166,601,772 (GRCm38) D492E possibly damaging Het
Scaf8 T C 17: 3,197,591 (GRCm38) V1063A possibly damaging Het
Scn3a G T 2: 65,536,536 (GRCm38) N47K probably benign Het
Sec61a2 G T 2: 5,873,745 (GRCm38) N348K probably benign Het
Sh3rf2 A G 18: 42,101,650 (GRCm38) E166G probably damaging Het
Slc19a2 C A 1: 164,249,413 (GRCm38) T54K probably damaging Het
Slc8a3 T A 12: 81,202,339 (GRCm38) I765F probably damaging Het
Snap91 A T 9: 86,879,550 (GRCm38) M1K probably null Het
Strc T C 2: 121,365,111 (GRCm38) H1619R probably damaging Het
Tbl1xr1 C T 3: 22,191,451 (GRCm38) T207M possibly damaging Het
Tchp T C 5: 114,709,519 (GRCm38) probably null Het
Tln1 A T 4: 43,539,668 (GRCm38) F1581Y probably damaging Het
Tnxb T C 17: 34,703,620 (GRCm38) V2469A possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm38) P46S probably benign Het
Vmn1r225 T A 17: 20,502,793 (GRCm38) F165L probably benign Het
Vmn2r13 T C 5: 109,174,312 (GRCm38) D173G possibly damaging Het
Vmn2r6 A C 3: 64,538,286 (GRCm38) S673A possibly damaging Het
Vta1 G A 10: 14,705,427 (GRCm38) probably benign Het
Wwc1 T C 11: 35,875,929 (GRCm38) T500A probably benign Het
Zfp784 T A 7: 5,036,117 (GRCm38) Q147H possibly damaging Het
Other mutations in Car11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02195:Car11 APN 7 45,701,292 (GRCm38) missense probably damaging 0.97
IGL03189:Car11 APN 7 45,702,455 (GRCm38) missense probably damaging 0.98
R1201:Car11 UTSW 7 45,703,480 (GRCm38) missense probably benign
R1625:Car11 UTSW 7 45,701,307 (GRCm38) missense probably benign 0.04
R1670:Car11 UTSW 7 45,703,525 (GRCm38) missense possibly damaging 0.52
R2430:Car11 UTSW 7 45,703,648 (GRCm38) splice site probably null
R2509:Car11 UTSW 7 45,701,359 (GRCm38) missense probably damaging 0.96
R2510:Car11 UTSW 7 45,701,359 (GRCm38) missense probably damaging 0.96
R3926:Car11 UTSW 7 45,700,491 (GRCm38) missense probably benign 0.17
R5511:Car11 UTSW 7 45,700,461 (GRCm38) missense probably damaging 1.00
R5639:Car11 UTSW 7 45,702,621 (GRCm38) critical splice donor site probably null
R7395:Car11 UTSW 7 45,701,321 (GRCm38) nonsense probably null
R7490:Car11 UTSW 7 45,700,318 (GRCm38) missense probably benign 0.03
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-12-04