Incidental Mutation 'IGL03125:Car7'
ID410123
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car7
Ensembl Gene ENSMUSG00000031883
Gene Namecarbonic anhydrase 7
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03125
Quality Score
Status
Chromosome8
Chromosomal Location104534689-104550343 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 104548219 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 131 (S131C)
Ref Sequence ENSEMBL: ENSMUSP00000052136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056051] [ENSMUST00000159416] [ENSMUST00000162761]
Predicted Effect probably benign
Transcript: ENSMUST00000056051
AA Change: S131C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000052136
Gene: ENSMUSG00000031883
AA Change: S131C

DomainStartEndE-ValueType
Carb_anhydrase 7 262 7.17e-144 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159416
AA Change: S75C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125112
Gene: ENSMUSG00000031883
AA Change: S75C

DomainStartEndE-ValueType
Carb_anhydrase 1 206 1.93e-94 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162399
Predicted Effect probably benign
Transcript: ENSMUST00000162761
AA Change: S75C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125404
Gene: ENSMUSG00000031883
AA Change: S75C

DomainStartEndE-ValueType
Carb_anhydrase 1 206 1.93e-94 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212567
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 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. The cytosolic protein encoded by this gene is predominantly expressed in the salivary glands. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced and atypical experimental febrile seizures with the absence of electrographic seizures and abnormal GABA-mediated receptor currents. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A C 5: 114,204,805 S911R possibly damaging Het
Acap1 G A 11: 69,887,038 R125C probably damaging Het
Erich6 G T 3: 58,624,306 T423N probably benign Het
Insr T C 8: 3,184,972 H174R possibly damaging Het
Lrch3 A G 16: 32,914,277 S46G possibly damaging Het
Meis3 G T 7: 16,178,770 R144L probably damaging Het
Obscn T C 11: 59,061,648 E4162G probably damaging Het
Olfr1331 A T 4: 118,868,921 I47F possibly damaging Het
Olfr734 T C 14: 50,320,692 T48A probably benign Het
Per2 T C 1: 91,450,611 H72R probably benign Het
Prdm11 C T 2: 92,980,622 A211T probably benign Het
Pygl A G 12: 70,197,482 S471P probably damaging Het
Reln A T 5: 21,910,844 N3055K probably damaging Het
Spata31 A C 13: 64,920,889 N284H probably benign Het
Stk36 A T 1: 74,623,313 D530V probably damaging Het
Stxbp5l G T 16: 37,186,721 D703E probably benign Het
Usp24 A G 4: 106,392,402 I1439V probably benign Het
Other mutations in Car7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01576:Car7 APN 8 104549548 splice site probably null
IGL02306:Car7 APN 8 104548998 missense probably damaging 1.00
IGL02936:Car7 APN 8 104548222 missense possibly damaging 0.82
R0409:Car7 UTSW 8 104548424 missense probably damaging 1.00
R0485:Car7 UTSW 8 104543538 missense probably benign 0.00
R1981:Car7 UTSW 8 104548377 splice site probably benign
R2129:Car7 UTSW 8 104548973 missense possibly damaging 0.91
R6964:Car7 UTSW 8 104543581 missense possibly damaging 0.85
R7483:Car7 UTSW 8 104549584 missense probably benign 0.12
R7635:Car7 UTSW 8 104548437 missense probably damaging 1.00
X0020:Car7 UTSW 8 104549003 missense probably damaging 1.00
Z1176:Car7 UTSW 8 104548959 missense possibly damaging 0.90
Posted On2016-08-02