Incidental Mutation 'IGL02306:Car7'
ID 287603
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car7
Ensembl Gene ENSMUSG00000031883
Gene Name carbonic anhydrase 7
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02306
Quality Score
Status
Chromosome 8
Chromosomal Location 105261326-105276979 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105275630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 137 (Y137C)
Ref Sequence ENSEMBL: ENSMUSP00000125404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056051] [ENSMUST00000159416] [ENSMUST00000162761]
AlphaFold Q9ERQ8
Predicted Effect probably damaging
Transcript: ENSMUST00000056051
AA Change: Y193C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052136
Gene: ENSMUSG00000031883
AA Change: Y193C

DomainStartEndE-ValueType
Carb_anhydrase 7 262 7.17e-144 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000159416
AA Change: Y137C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125112
Gene: ENSMUSG00000031883
AA Change: Y137C

DomainStartEndE-ValueType
Carb_anhydrase 1 206 1.93e-94 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162399
Predicted Effect probably damaging
Transcript: ENSMUST00000162761
AA Change: Y137C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125404
Gene: ENSMUSG00000031883
AA Change: Y137C

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,952,044 (GRCm39) Y680C probably damaging Het
Abcb11 C T 2: 69,095,801 (GRCm39) W846* probably null Het
Adam34 G A 8: 44,103,522 (GRCm39) R708C probably benign Het
Adam6a T A 12: 113,509,343 (GRCm39) L572Q possibly damaging Het
Aldoart2 A G 12: 55,612,489 (GRCm39) Y138C probably damaging Het
Amigo1 T A 3: 108,095,302 (GRCm39) F267Y probably benign Het
Ccar2 A T 14: 70,379,471 (GRCm39) M509K probably benign Het
Cd160 A T 3: 96,716,139 (GRCm39) I17N possibly damaging Het
Cmya5 C T 13: 93,234,527 (GRCm39) G187D probably damaging Het
Crot A T 5: 9,018,701 (GRCm39) V555E possibly damaging Het
Cstf1 C T 2: 172,214,891 (GRCm39) T4I probably benign Het
Cyp2a12 A G 7: 26,732,008 (GRCm39) K250E probably damaging Het
Deaf1 T C 7: 140,904,094 (GRCm39) probably null Het
Dse C T 10: 34,036,130 (GRCm39) E249K probably damaging Het
E4f1 G T 17: 24,665,903 (GRCm39) R88S probably damaging Het
Fam83a A C 15: 57,858,704 (GRCm39) D248A probably damaging Het
Fhip2b T C 14: 70,826,437 (GRCm39) D217G probably benign Het
Hadhb T A 5: 30,371,747 (GRCm39) L66Q probably null Het
Kalrn T C 16: 34,130,897 (GRCm39) E440G probably damaging Het
Kif3b A G 2: 153,162,572 (GRCm39) Y527C probably damaging Het
Krt4 T C 15: 101,829,740 (GRCm39) I263V probably benign Het
Krtap29-1 A T 11: 99,869,092 (GRCm39) V263E probably damaging Het
Mms19 A G 19: 41,954,703 (GRCm39) L72P probably damaging Het
Mylpf T A 7: 126,812,330 (GRCm39) probably benign Het
Nalcn T A 14: 123,560,750 (GRCm39) I776F probably benign Het
Nedd4l T G 18: 65,306,025 (GRCm39) S292R possibly damaging Het
Nlrc3 A C 16: 3,782,688 (GRCm39) D240E probably damaging Het
Obscn A T 11: 58,890,497 (GRCm39) I7345N unknown Het
Or4c102 A T 2: 88,422,950 (GRCm39) K267N probably benign Het
Ostn A T 16: 27,165,691 (GRCm39) S127C probably damaging Het
Patl1 A G 19: 11,920,250 (GRCm39) K735E possibly damaging Het
Pde12 A G 14: 26,389,533 (GRCm39) L392P possibly damaging Het
Plxdc2 A G 2: 16,665,585 (GRCm39) I213V probably benign Het
Plxna4 T A 6: 32,183,059 (GRCm39) Y948F probably benign Het
Prlhr A T 19: 60,456,353 (GRCm39) V71E probably damaging Het
Prlr C T 15: 10,328,760 (GRCm39) P412S probably benign Het
Prmt9 A G 8: 78,287,447 (GRCm39) K196R probably benign Het
Rundc3a T A 11: 102,291,764 (GRCm39) L387Q probably damaging Het
Ryr3 T C 2: 112,664,459 (GRCm39) I1611V probably damaging Het
Ryr3 A G 2: 112,677,744 (GRCm39) probably null Het
Scart1 T C 7: 139,803,269 (GRCm39) C278R probably damaging Het
Sfxn2 T A 19: 46,578,987 (GRCm39) M240K probably damaging Het
Skor2 T C 18: 76,950,374 (GRCm39) S901P probably benign Het
Smad4 T C 18: 73,795,940 (GRCm39) probably null Het
Snrnp40 T G 4: 130,258,893 (GRCm39) C100W probably benign Het
Spink5 T A 18: 44,097,511 (GRCm39) D19E probably damaging Het
Sult1d1 T A 5: 87,703,914 (GRCm39) probably benign Het
Wdr59 G A 8: 112,219,365 (GRCm39) L231F probably damaging Het
Other mutations in Car7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01576:Car7 APN 8 105,276,180 (GRCm39) splice site probably null
IGL02936:Car7 APN 8 105,274,854 (GRCm39) missense possibly damaging 0.82
IGL03125:Car7 APN 8 105,274,851 (GRCm39) missense probably benign 0.00
R0409:Car7 UTSW 8 105,275,056 (GRCm39) missense probably damaging 1.00
R0485:Car7 UTSW 8 105,270,170 (GRCm39) missense probably benign 0.00
R1981:Car7 UTSW 8 105,275,009 (GRCm39) splice site probably benign
R2129:Car7 UTSW 8 105,275,605 (GRCm39) missense possibly damaging 0.91
R6964:Car7 UTSW 8 105,270,213 (GRCm39) missense possibly damaging 0.85
R7483:Car7 UTSW 8 105,276,216 (GRCm39) missense probably benign 0.12
R7635:Car7 UTSW 8 105,275,069 (GRCm39) missense probably damaging 1.00
R9749:Car7 UTSW 8 105,275,054 (GRCm39) missense probably damaging 0.99
X0020:Car7 UTSW 8 105,275,635 (GRCm39) missense probably damaging 1.00
Z1176:Car7 UTSW 8 105,275,591 (GRCm39) missense possibly damaging 0.90
Posted On 2015-04-16