Incidental Mutation 'PIT4802001:Car4'
ID 556746
Institutional Source Beutler Lab
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 # PIT4802001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 84848612-84856870 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84855231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 157 (A157T)
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: A157T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099483
Gene: ENSMUSG00000000805
AA Change: A157T

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
SMART Domains Protein: ENSMUSP00000103711
Gene: ENSMUSG00000000805
AA Change: A20T

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 probably benign
Transcript: ENSMUST00000150596
Coding Region Coverage
  • 1x: 93.6%
  • 3x: 91.0%
  • 10x: 85.4%
  • 20x: 73.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A T 11: 119,902,172 (GRCm39) D741E probably benign Het
Abca16 A G 7: 120,139,351 (GRCm39) D1461G probably benign Het
Adam6a G T 12: 113,509,078 (GRCm39) D484Y probably damaging Het
Akap5 T C 12: 76,376,706 (GRCm39) Y713H probably damaging Het
AW554918 A G 18: 25,473,132 (GRCm39) E312G possibly damaging Het
Chst9 A T 18: 15,585,849 (GRCm39) M238K probably benign Het
Ctbp2 G A 7: 132,589,974 (GRCm39) H397Y possibly damaging Het
Cyp3a59 A G 5: 146,039,611 (GRCm39) M295V probably benign Het
Daglb T C 5: 143,488,803 (GRCm39) Y586H probably benign Het
Ehbp1l1 G T 19: 5,769,603 (GRCm39) P567T possibly damaging Het
Emilin2 A G 17: 71,580,464 (GRCm39) I754T probably damaging Het
Esyt2 G A 12: 116,329,457 (GRCm39) A672T probably benign Het
Evx1 G T 6: 52,291,175 (GRCm39) E116* probably null Het
Exph5 T C 9: 53,286,278 (GRCm39) S1120P probably damaging Het
Fam184a A T 10: 53,560,450 (GRCm39) L515* probably null Het
Flt4 T A 11: 49,523,996 (GRCm39) D525E probably benign Het
Galt T C 4: 41,756,764 (GRCm39) W135R probably damaging Het
Ifitm6 A T 7: 140,596,648 (GRCm39) C42S probably damaging Het
Ift172 A G 5: 31,442,610 (GRCm39) S186P probably benign Het
Kcnk3 A G 5: 30,779,712 (GRCm39) E254G probably damaging Het
Kmt2b A G 7: 30,278,996 (GRCm39) S1509P probably damaging Het
Ky T A 9: 102,414,972 (GRCm39) S295T probably benign Het
Lrba T A 3: 86,571,801 (GRCm39) Y2368* probably null Het
Mtmr4 T A 11: 87,501,953 (GRCm39) V669E probably benign Het
Myh10 C T 11: 68,655,918 (GRCm39) R471C probably damaging Het
Nav1 G A 1: 135,380,671 (GRCm39) T1416I unknown Het
Nrip1 A C 16: 76,090,157 (GRCm39) S467A probably damaging Het
Ntrk1 T A 3: 87,695,941 (GRCm39) N190Y probably damaging Het
Or14a256 A T 7: 86,265,763 (GRCm39) L30Q probably null Het
Or5h25 A C 16: 58,930,964 (GRCm39) M3R probably benign Het
Pdxp A G 15: 78,802,611 (GRCm39) S282G probably damaging Het
Phtf2 A T 5: 21,006,904 (GRCm39) S220T probably damaging Het
Piezo2 A T 18: 63,157,540 (GRCm39) V2390E probably damaging Het
Pop1 T G 15: 34,529,229 (GRCm39) L783R probably benign Het
Prf1 G A 10: 61,135,972 (GRCm39) A83T probably benign Het
Rab4b A G 7: 26,875,267 (GRCm39) V50A probably benign Het
Rtn1 T A 12: 72,351,100 (GRCm39) T370S probably benign Het
Sdr16c5 T A 4: 4,012,423 (GRCm39) I123F probably damaging Het
Smg6 T A 11: 75,046,991 (GRCm39) V1228D probably damaging Het
Smim19 A G 8: 22,963,539 (GRCm39) V23A probably benign Het
Sox13 A T 1: 133,313,996 (GRCm39) I346N probably damaging Het
Tap1 T A 17: 34,412,165 (GRCm39) Y457N probably damaging Het
Tbck C T 3: 132,458,427 (GRCm39) P686S probably damaging Het
Tcof1 A G 18: 60,965,010 (GRCm39) S570P unknown Het
Tmc5 A T 7: 118,271,449 (GRCm39) M921L probably benign Het
Ttc6 A G 12: 57,772,462 (GRCm39) Y1594C possibly damaging Het
Virma T A 4: 11,546,008 (GRCm39) H1615Q probably damaging Het
Vmn1r19 T A 6: 57,382,037 (GRCm39) Y197N probably damaging Het
Vps13c T C 9: 67,845,068 (GRCm39) F2051L probably damaging Het
Wdr6 C T 9: 108,451,765 (GRCm39) C706Y probably damaging Het
Zfand4 A G 6: 116,261,736 (GRCm39) N100D probably 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
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
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
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
Predicted Primers PCR Primer
(F):5'- TGATGGGAGACACTTTGCC -3'
(R):5'- AACCTGACTCACGGGGTTTG -3'

Sequencing Primer
(F):5'- CTTTGCCATGGAGGTAAGAAGCC -3'
(R):5'- CTCCTTCTGGAGGATGGG -3'
Posted On 2019-06-07