Incidental Mutation 'R3926:Car11'
ID 308283
Institutional Source Beutler Lab
Gene Symbol Car11
Ensembl Gene ENSMUSG00000003273
Gene Name carbonic anhydrase 11
Synonyms CA-RP XI
MMRRC Submission 040821-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R3926 (G1)
Quality Score 193
Status Validated
Chromosome 7
Chromosomal Location 45349267-45354106 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45349915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 45 (F45L)
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: F45L

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000003360
Gene: ENSMUSG00000003273
AA Change: F45L

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 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
Meta Mutation Damage Score 0.0832 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
Validation Efficiency 98% (55/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Ahnak G A 19: 8,983,692 (GRCm39) D1659N probably benign Het
Arfgap2 C T 2: 91,105,150 (GRCm39) R405W probably damaging Het
Asb14 T C 14: 26,619,695 (GRCm39) I48T possibly damaging Het
Astn1 A T 1: 158,407,227 (GRCm39) I559F possibly damaging Het
Atg7 C T 6: 114,650,639 (GRCm39) T83M possibly damaging Het
Bco1 T C 8: 117,854,211 (GRCm39) S379P probably benign Het
Becn2 T C 1: 175,748,852 (GRCm39) V306A probably benign Het
Bst1 T C 5: 43,997,796 (GRCm39) V265A possibly damaging Het
Cdkl2 T C 5: 92,180,998 (GRCm39) I214V possibly damaging Het
Cluap1 T A 16: 3,729,398 (GRCm39) S141T probably damaging Het
Col11a1 C T 3: 113,883,773 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Corin T G 5: 72,529,473 (GRCm39) D294A probably damaging Het
Crct1 C A 3: 92,922,014 (GRCm39) probably benign Het
Ddx41 A G 13: 55,679,083 (GRCm39) L559P probably damaging Het
Ddx59 T A 1: 136,344,482 (GRCm39) V51D probably benign Het
Dennd1b A G 1: 139,071,697 (GRCm39) N397D probably benign Het
Evc2 T A 5: 37,540,574 (GRCm39) L590Q probably damaging Het
Fhl5 A T 4: 25,214,790 (GRCm39) probably benign Het
Flg2 A G 3: 93,110,522 (GRCm39) Y850C unknown Het
Gal3st2b G T 1: 93,868,512 (GRCm39) V246L probably benign Het
Jam3 A T 9: 27,017,701 (GRCm39) I29K possibly damaging Het
Klhl1 A T 14: 96,584,316 (GRCm39) C305S possibly damaging Het
Lims2 A G 18: 32,090,996 (GRCm39) S327G probably benign Het
Lynx1 A G 15: 74,623,205 (GRCm39) Y76H probably damaging Het
Mycbp2 G A 14: 103,441,936 (GRCm39) P1943L probably damaging Het
Myo3a A G 2: 22,455,053 (GRCm39) D86G probably damaging Het
Nkx3-2 T A 5: 41,919,223 (GRCm39) Q255L probably damaging Het
Notch3 C T 17: 32,372,531 (GRCm39) R641H possibly damaging Het
Nr2c2 T A 6: 92,137,382 (GRCm39) M431K probably damaging Het
Ogfod3 T C 11: 121,074,255 (GRCm39) T265A probably damaging Het
Pcdh9 G T 14: 94,124,246 (GRCm39) Y641* probably null Het
Pcdha9 T A 18: 37,132,465 (GRCm39) D511E probably damaging Het
Pcdhgb8 A G 18: 37,895,443 (GRCm39) Y171C probably damaging Het
Pcnx1 T C 12: 82,005,505 (GRCm39) C1075R probably damaging Het
Pik3c3 C A 18: 30,444,382 (GRCm39) probably benign Het
Pkhd1 T C 1: 20,621,097 (GRCm39) T854A probably benign Het
Pycr1 T C 11: 120,532,961 (GRCm39) T100A probably benign Het
Rhof T C 5: 123,242,593 (GRCm39) probably null Het
Scn9a T A 2: 66,357,217 (GRCm39) D1028V possibly damaging Het
Serpina3f T C 12: 104,185,740 (GRCm39) I315T possibly damaging Het
Slc1a6 T A 10: 78,648,715 (GRCm39) S479T possibly damaging Het
Tmcc1 T C 6: 116,019,874 (GRCm39) D166G probably damaging Het
Trav3-3 A G 14: 53,903,828 (GRCm39) K49E probably benign Het
Usp28 T C 9: 48,942,223 (GRCm39) probably null Het
Utrn C T 10: 12,573,786 (GRCm39) V1095I probably benign Het
Zfp217 T C 2: 169,954,438 (GRCm39) D1038G probably damaging Het
Zfp709 A G 8: 72,644,397 (GRCm39) R609G probably damaging Het
Zfp729a T A 13: 67,768,310 (GRCm39) K640* probably null Het
Zfp986 A T 4: 145,619,090 (GRCm39) probably benign Het
Zkscan6 A T 11: 65,719,051 (GRCm39) H357L probably benign Het
Other mutations in Car11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02195:Car11 APN 7 45,350,716 (GRCm39) missense probably damaging 0.97
IGL03189:Car11 APN 7 45,351,879 (GRCm39) missense probably damaging 0.98
R1201:Car11 UTSW 7 45,352,904 (GRCm39) missense probably benign
R1625:Car11 UTSW 7 45,350,731 (GRCm39) missense probably benign 0.04
R1670:Car11 UTSW 7 45,352,949 (GRCm39) missense possibly damaging 0.52
R2430:Car11 UTSW 7 45,353,072 (GRCm39) splice site probably null
R2509:Car11 UTSW 7 45,350,783 (GRCm39) missense probably damaging 0.96
R2510:Car11 UTSW 7 45,350,783 (GRCm39) missense probably damaging 0.96
R2680:Car11 UTSW 7 45,351,909 (GRCm39) missense probably benign
R5511:Car11 UTSW 7 45,349,885 (GRCm39) missense probably damaging 1.00
R5639:Car11 UTSW 7 45,352,045 (GRCm39) critical splice donor site probably null
R7395:Car11 UTSW 7 45,350,745 (GRCm39) nonsense probably null
R7490:Car11 UTSW 7 45,349,742 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CCTCAAGCGCTGGTACTCTG -3'
(R):5'- ACTTGAAATGCGCATGTATAATGTC -3'

Sequencing Primer
(F):5'- TACTCTGGGCCGCACTG -3'
(R):5'- ATAATGTCCCATGGTGAGCC -3'
Posted On 2015-04-17