Incidental Mutation 'IGL02358:Car4'
ID 290348
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 # IGL02358
Quality Score
Status
Chromosome 11
Chromosomal Location 84848612-84856870 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 84856593 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q64444
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,474,418 (GRCm39) T448A possibly damaging Het
Adamtsl1 T A 4: 86,075,110 (GRCm39) probably null Het
Adgra3 A G 5: 50,215,900 (GRCm39) V73A probably benign Het
Adgre4 G A 17: 56,150,209 (GRCm39) R600Q probably benign Het
Aggf1 T C 13: 95,489,358 (GRCm39) probably benign Het
Aktip C T 8: 91,853,520 (GRCm39) V96I possibly damaging Het
Atm A G 9: 53,433,476 (GRCm39) I258T probably benign Het
Baz1b C T 5: 135,273,160 (GRCm39) T1428I probably damaging Het
C3ar1 A T 6: 122,826,934 (GRCm39) Y428N probably damaging Het
Cadps A G 14: 12,597,380 (GRCm38) S437P probably damaging Het
Cenpq A G 17: 41,235,223 (GRCm39) L213P probably damaging Het
Cept1 A G 3: 106,446,504 (GRCm39) probably null Het
Cln6 A G 9: 62,754,407 (GRCm39) I150V probably benign Het
Cyb5r3 T C 15: 83,045,136 (GRCm39) T94A probably benign Het
Cyp2c67 A G 19: 39,605,861 (GRCm39) M345T probably damaging Het
Dapk2 T A 9: 66,153,805 (GRCm39) I187N probably damaging Het
Dkk2 A G 3: 131,883,673 (GRCm39) D191G probably benign Het
Dnah8 T A 17: 30,986,785 (GRCm39) F3145I probably damaging Het
Dock1 A C 7: 134,710,548 (GRCm39) D1190A possibly damaging Het
Ehhadh T A 16: 21,581,620 (GRCm39) L457F probably damaging Het
Ercc6l2 T C 13: 64,001,497 (GRCm39) L552P probably damaging Het
Ghrhr T G 6: 55,361,138 (GRCm39) I284S probably damaging Het
Gm10288 A T 3: 146,544,954 (GRCm39) noncoding transcript Het
Gp6 T G 7: 4,397,507 (GRCm39) I19L probably benign Het
Gria4 G A 9: 4,456,206 (GRCm39) S698L possibly damaging Het
Ifng A T 10: 118,278,410 (GRCm39) I53F possibly damaging Het
Kazn A C 4: 141,874,327 (GRCm39) probably null Het
Khk A T 5: 31,085,848 (GRCm39) I136F probably damaging Het
Krtap9-3 T A 11: 99,488,885 (GRCm39) probably benign Het
Lnx1 T A 5: 74,788,027 (GRCm39) N98Y probably damaging Het
Lsp1 T C 7: 142,042,679 (GRCm39) probably null Het
Lta4h A T 10: 93,314,329 (GRCm39) N467I probably benign Het
Mcmbp C A 7: 128,311,505 (GRCm39) probably null Het
Me2 A T 18: 73,931,038 (GRCm39) I85K probably benign Het
Muc4 C T 16: 32,569,804 (GRCm39) T288I possibly damaging Het
Nadsyn1 A T 7: 143,353,649 (GRCm39) Y525N probably damaging Het
Nt5e G A 9: 88,209,946 (GRCm39) V70M probably damaging Het
Or52e4 G A 7: 104,706,182 (GRCm39) G243D probably damaging Het
Or8b36 A T 9: 37,937,332 (GRCm39) I77L possibly damaging Het
Or9k7 T G 10: 130,046,603 (GRCm39) Y132S probably damaging Het
Pkd1l3 A G 8: 110,373,129 (GRCm39) probably benign Het
Ppm1d A T 11: 85,236,541 (GRCm39) E440V probably damaging Het
Pramel32 A T 4: 88,546,127 (GRCm39) I405N probably damaging Het
Ripor2 A T 13: 24,915,572 (GRCm39) E1047D probably damaging Het
Rwdd2b G A 16: 87,234,336 (GRCm39) A18V probably benign Het
Serpina5 G T 12: 104,068,384 (GRCm39) K148N probably damaging Het
Setx A G 2: 29,036,976 (GRCm39) K1154E probably benign Het
Spata31 T A 13: 65,069,032 (GRCm39) N393K probably benign Het
Spcs2 T C 7: 99,498,241 (GRCm39) K81R probably damaging Het
Stt3b T A 9: 115,079,975 (GRCm39) M646L possibly damaging Het
Suco T C 1: 161,646,195 (GRCm39) T1169A probably benign Het
Susd1 A T 4: 59,427,985 (GRCm39) Y66* probably null Het
Trim34a T A 7: 103,910,441 (GRCm39) C414* probably null Het
Trim58 G A 11: 58,542,176 (GRCm39) G379S probably damaging Het
Vmn2r50 T A 7: 9,787,002 (GRCm39) Q35L probably benign Het
Zc3hc1 C A 6: 30,376,057 (GRCm39) G168W probably benign Het
Zfp418 T C 7: 7,177,690 (GRCm39) probably benign Het
Zfp57 G A 17: 37,320,919 (GRCm39) V258I probably benign Het
Zng1 A T 19: 24,909,026 (GRCm39) probably null 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
IGL01828:Car4 APN 11 84,855,571 (GRCm39) missense probably benign 0.19
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
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 2015-04-16