Incidental Mutation 'IGL02353:Car4'
ID289555
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car4
Ensembl Gene ENSMUSG00000000805
Gene Namecarbonic anhydrase 4
SynonymsCA IV
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.214) question?
Stock #IGL02353
Quality Score
Status
Chromosome11
Chromosomal Location84957786-84966044 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 84965767 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 294 (P294S)
Ref Sequence ENSEMBL: ENSMUSP00000099483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103194] [ENSMUST00000127827] [ENSMUST00000150596]
PDB Structure
MURINE CARBONIC ANHYDRASE IV [X-RAY DIFFRACTION]
MURINE CARBONIC ANHYDRASE IV COMPLEXED WITH BRINZOLAMIDE [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000103194
AA Change: P294S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099483
Gene: ENSMUSG00000000805
AA Change: P294S

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: P152S
SMART Domains Protein: ENSMUSP00000103711
Gene: ENSMUSG00000000805
AA Change: P152S

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030411F24Rik A G 2: 148,783,467 probably benign Het
Aldh18a1 A T 19: 40,577,920 V102D probably damaging Het
Casp6 C T 3: 129,910,526 S87L probably damaging Het
Ccdc121 T C 1: 181,510,625 E254G possibly damaging Het
Ccnl1 A C 3: 65,948,720 C255G probably damaging Het
Celf4 T C 18: 25,486,898 I485M probably damaging Het
Cntln A G 4: 85,049,850 R769G probably damaging Het
Cyp2d12 T C 15: 82,558,970 V360A probably benign Het
Dgki T C 6: 36,847,389 E1068G probably damaging Het
Fbxl4 A G 4: 22,433,684 N607S probably benign Het
Fgd4 T C 16: 16,462,045 I383V probably damaging Het
Fgd6 C T 10: 94,138,396 T1333I possibly damaging Het
Got1 A G 19: 43,524,443 S5P probably damaging Het
Herc2 T A 7: 56,114,812 N995K probably damaging Het
Kcnma1 A G 14: 23,591,613 F159S probably damaging Het
Krt83 T C 15: 101,485,458 S456G probably benign Het
Lhb T C 7: 45,421,294 V32A possibly damaging Het
Mau2 A T 8: 70,019,638 V602E probably damaging Het
Mpst C T 15: 78,410,085 L6F probably damaging Het
Nlrp2 G A 7: 5,337,599 T72I probably damaging Het
Olfr44 A G 9: 39,485,148 I32T probably benign Het
Phldb2 T C 16: 45,748,779 Y1239C probably damaging Het
Slc22a8 T C 19: 8,608,255 F328S possibly damaging Het
Spns1 C T 7: 126,375,140 R94Q probably damaging Het
Sult2a3 G A 7: 14,121,650 R94* probably null Het
Syt16 A G 12: 74,129,471 N38S probably damaging Het
Tbc1d1 G A 5: 64,256,836 R180Q probably damaging Het
Ush2a T C 1: 188,728,438 I2632T probably benign Het
Vcam1 T A 3: 116,115,894 I595F possibly damaging Het
Other mutations in Car4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Car4 APN 11 84965767 missense probably damaging 1.00
IGL01121:Car4 APN 11 84964346 critical splice acceptor site probably null
IGL01828:Car4 APN 11 84964745 missense probably benign 0.19
IGL02340:Car4 APN 11 84965767 missense probably damaging 1.00
IGL02351:Car4 APN 11 84965767 missense probably damaging 1.00
IGL02358:Car4 APN 11 84965767 missense probably damaging 1.00
IGL02360:Car4 APN 11 84965767 missense probably damaging 1.00
PIT4802001:Car4 UTSW 11 84964405 missense probably damaging 1.00
R0008:Car4 UTSW 11 84963411 unclassified probably benign
R0501:Car4 UTSW 11 84963442 missense probably benign 0.01
R2124:Car4 UTSW 11 84964085 splice site probably benign
R3907:Car4 UTSW 11 84964357 missense probably damaging 1.00
R5072:Car4 UTSW 11 84963367 missense probably benign
R5268:Car4 UTSW 11 84965800 missense probably benign 0.28
R5562:Car4 UTSW 11 84964098 missense probably benign 0.05
R6508:Car4 UTSW 11 84965643 missense possibly damaging 0.64
Posted On2015-04-16