Incidental Mutation 'IGL01828:Car4'
ID 154710
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car4
Ensembl Gene ENSMUSG00000000805
Gene Name carbonic anhydrase 4
Synonyms CA IV
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # IGL01828
Quality Score
Status
Chromosome 11
Chromosomal Location 84848612-84856870 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 84855571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 198 (Q198K)
Ref Sequence ENSEMBL: ENSMUSP00000099483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103194] [ENSMUST00000127827] [ENSMUST00000150596]
AlphaFold Q64444
PDB Structure MURINE CARBONIC ANHYDRASE IV [X-RAY DIFFRACTION]
MURINE CARBONIC ANHYDRASE IV COMPLEXED WITH BRINZOLAMIDE [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000103194
AA Change: Q198K

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099483
Gene: ENSMUSG00000000805
AA Change: Q198K

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Carb_anhydrase 22 278 2.37e-103 SMART
low complexity region 283 299 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000108076
AA Change: Q56K
SMART Domains Protein: ENSMUSP00000103711
Gene: ENSMUSG00000000805
AA Change: Q56K

DomainStartEndE-ValueType
Carb_anhydrase 3 137 9.49e-7 SMART
low complexity region 142 158 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139416
Predicted Effect probably benign
Transcript: ENSMUST00000150596
Coding Region Coverage
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. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are produced in lower than expected numbers, with females preferentially lost in the fetal or early postnatal period. Surviving homozygotes are healthy and fertile when crossed with wild-type partners; however, homozygous intercrosses yield small litters and pups do not survive. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,178,521 (GRCm39) I1151V probably benign Het
Abcc4 C T 14: 118,790,691 (GRCm39) probably benign Het
Asxl3 T A 18: 22,658,615 (GRCm39) probably benign Het
Ces1a T C 8: 93,751,829 (GRCm39) H435R probably damaging Het
Chdh T A 14: 29,758,565 (GRCm39) F503L probably damaging Het
Dennd4a C T 9: 64,749,843 (GRCm39) R145* probably null Het
Dse T A 10: 34,028,772 (GRCm39) T773S probably damaging Het
Fbxw11 T A 11: 32,670,505 (GRCm39) L123H probably damaging Het
Gigyf2 A G 1: 87,346,820 (GRCm39) D550G probably damaging Het
Gm45844 T C 7: 7,234,322 (GRCm39) probably null Het
Krcc1 T A 6: 71,261,351 (GRCm39) Y128N probably damaging Het
Myh8 T C 11: 67,194,652 (GRCm39) M1621T possibly damaging Het
Notch2 T A 3: 97,979,929 (GRCm39) C148S probably damaging Het
Plcg2 C A 8: 118,316,972 (GRCm39) H616Q probably damaging Het
Plec T C 15: 76,067,955 (GRCm39) E1218G probably damaging Het
Plekhm2 T C 4: 141,356,896 (GRCm39) E749G probably benign Het
Slco1a6 C T 6: 142,042,137 (GRCm39) V480M probably damaging Het
Vmn1r88 C T 7: 12,911,662 (GRCm39) T6I probably damaging Het
Vmn2r14 A G 5: 109,372,443 (GRCm39) F16L possibly damaging Het
Ywhab G A 2: 163,853,694 (GRCm39) R57H possibly damaging Het
Other mutations in Car4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Car4 APN 11 84,856,593 (GRCm39) missense probably damaging 1.00
IGL01121:Car4 APN 11 84,855,172 (GRCm39) critical splice acceptor site probably null
IGL02340:Car4 APN 11 84,856,593 (GRCm39) missense probably damaging 1.00
IGL02351:Car4 APN 11 84,856,593 (GRCm39) missense probably damaging 1.00
IGL02353:Car4 APN 11 84,856,593 (GRCm39) missense probably damaging 1.00
IGL02358:Car4 APN 11 84,856,593 (GRCm39) missense probably damaging 1.00
IGL02360:Car4 APN 11 84,856,593 (GRCm39) missense probably damaging 1.00
PIT4802001:Car4 UTSW 11 84,855,231 (GRCm39) missense probably damaging 1.00
R0008:Car4 UTSW 11 84,854,237 (GRCm39) unclassified probably benign
R0501:Car4 UTSW 11 84,854,268 (GRCm39) missense probably benign 0.01
R2124:Car4 UTSW 11 84,854,911 (GRCm39) splice site probably benign
R3907:Car4 UTSW 11 84,855,183 (GRCm39) missense probably damaging 1.00
R5072:Car4 UTSW 11 84,854,193 (GRCm39) missense probably benign
R5268:Car4 UTSW 11 84,856,626 (GRCm39) missense probably benign 0.28
R5562:Car4 UTSW 11 84,854,924 (GRCm39) missense probably benign 0.05
R6508:Car4 UTSW 11 84,856,469 (GRCm39) missense possibly damaging 0.64
R7775:Car4 UTSW 11 84,856,449 (GRCm39) missense probably damaging 1.00
R8698:Car4 UTSW 11 84,855,009 (GRCm39) missense probably benign 0.20
R8956:Car4 UTSW 11 84,855,377 (GRCm39) missense probably null 1.00
R9334:Car4 UTSW 11 84,855,415 (GRCm39) missense probably benign 0.01
Z1177:Car4 UTSW 11 84,854,245 (GRCm39) missense possibly damaging 0.95
Posted On 2014-02-04