Incidental Mutation 'R0409:Car7'
ID 36519
Institutional Source Beutler Lab
Gene Symbol Car7
Ensembl Gene ENSMUSG00000031883
Gene Name carbonic anhydrase 7
Synonyms
MMRRC Submission 038611-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0409 (G1)
Quality Score 98
Status Validated
Chromosome 8
Chromosomal Location 105261326-105276979 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 105275056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 165 (A165T)
Ref Sequence ENSEMBL: ENSMUSP00000052136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056051] [ENSMUST00000159416] [ENSMUST00000162761]
AlphaFold Q9ERQ8
Predicted Effect probably damaging
Transcript: ENSMUST00000056051
AA Change: A165T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052136
Gene: ENSMUSG00000031883
AA Change: A165T

DomainStartEndE-ValueType
Carb_anhydrase 7 262 7.17e-144 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159416
AA Change: A109T

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125112
Gene: ENSMUSG00000031883
AA Change: A109T

DomainStartEndE-ValueType
Carb_anhydrase 1 206 1.93e-94 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162399
Predicted Effect probably benign
Transcript: ENSMUST00000162761
AA Change: A109T

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125404
Gene: ENSMUSG00000031883
AA Change: A109T

DomainStartEndE-ValueType
Carb_anhydrase 1 206 1.93e-94 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212567
Meta Mutation Damage Score 0.1228 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.8%
Validation Efficiency 100% (55/55)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik G T 10: 87,061,816 (GRCm39) A89S probably damaging Het
Alkbh3 T A 2: 93,831,793 (GRCm39) I146F possibly damaging Het
Aox1 A T 1: 58,375,783 (GRCm39) I871F possibly damaging Het
Birc2 A C 9: 7,819,385 (GRCm39) V509G possibly damaging Het
Ccdc81 A G 7: 89,535,423 (GRCm39) V271A probably benign Het
Cdc40 G T 10: 40,723,164 (GRCm39) H302N probably damaging Het
Cep104 C T 4: 154,067,510 (GRCm39) probably benign Het
Cfap54 C A 10: 92,612,075 (GRCm39) S3161I probably benign Het
Chil5 A G 3: 105,942,282 (GRCm39) probably benign Het
Chil6 C T 3: 106,311,492 (GRCm39) G96D probably benign Het
Cnot1 T C 8: 96,475,483 (GRCm39) K531E probably damaging Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Disp3 T G 4: 148,356,416 (GRCm39) E148A probably damaging Het
Eps8l2 A G 7: 140,922,893 (GRCm39) Y52C probably damaging Het
Exph5 C A 9: 53,285,643 (GRCm39) T908K probably benign Het
Fat4 C T 3: 39,031,562 (GRCm39) S2449F probably damaging Het
Faxc T A 4: 21,948,751 (GRCm39) N154K probably benign Het
Fbxo43 C T 15: 36,162,503 (GRCm39) A235T probably benign Het
Fnip1 A G 11: 54,371,180 (GRCm39) probably null Het
Fsd1l T C 4: 53,679,932 (GRCm39) L210P probably benign Het
Gm6420 A C 1: 23,295,119 (GRCm39) S123R unknown Het
Gm8801 T G 17: 36,258,268 (GRCm39) noncoding transcript Het
Gmfb T C 14: 47,053,679 (GRCm39) I36V probably benign Het
Gsap G A 5: 21,427,443 (GRCm39) probably benign Het
Hectd1 T A 12: 51,829,339 (GRCm39) I969L possibly damaging Het
Il21r G T 7: 125,229,012 (GRCm39) probably benign Het
Lrrc7 A G 3: 157,867,063 (GRCm39) F893L possibly damaging Het
Map2 A G 1: 66,472,739 (GRCm39) I1715V probably damaging Het
Mlh3 A G 12: 85,287,628 (GRCm39) I1339T possibly damaging Het
Nacad T C 11: 6,549,810 (GRCm39) D1127G probably benign Het
Noc3l A G 19: 38,806,371 (GRCm39) probably benign Het
Nup93 A G 8: 95,030,293 (GRCm39) D384G probably damaging Het
Or5m9b T A 2: 85,905,646 (GRCm39) C187* probably null Het
Or5p54 T C 7: 107,554,433 (GRCm39) I195T probably benign Het
Or8b40 C T 9: 38,027,547 (GRCm39) L152F probably benign Het
Pls1 A T 9: 95,668,972 (GRCm39) probably benign Het
Prkcb A T 7: 122,024,200 (GRCm39) H75L probably damaging Het
Rev1 A T 1: 38,113,449 (GRCm39) Y539* probably null Het
Rnf10 A T 5: 115,393,506 (GRCm39) probably benign Het
Rnpepl1 A G 1: 92,843,582 (GRCm39) Y234C probably damaging Het
Sdk2 T C 11: 113,741,717 (GRCm39) probably benign Het
Sec23b T A 2: 144,409,832 (GRCm39) M240K probably benign Het
Sema5a A T 15: 32,681,755 (GRCm39) N945Y probably damaging Het
Snapc4 C A 2: 26,257,228 (GRCm39) R799L probably benign Het
Spata31g1 A C 4: 42,972,203 (GRCm39) K512T probably damaging Het
Tctn3 T C 19: 40,599,860 (GRCm39) probably benign Het
Tex56 A T 13: 35,108,532 (GRCm39) I5L probably benign Het
Tfpt G A 7: 3,623,898 (GRCm39) Q50* probably null Het
Trim80 T C 11: 115,332,039 (GRCm39) V77A probably damaging Het
Trp73 T A 4: 154,148,841 (GRCm39) D256V possibly damaging Het
Utrn G T 10: 12,519,345 (GRCm39) N2202K probably benign Het
Vps13c T A 9: 67,858,926 (GRCm39) F2792Y probably benign Het
Other mutations in Car7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01576:Car7 APN 8 105,276,180 (GRCm39) splice site probably null
IGL02306:Car7 APN 8 105,275,630 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GGAGACTGATTTCATTCCCCTGCTG -3'
(R):5'- ATGTGGGCCTCTTCTTGACATGATG -3'

Sequencing Primer
(F):5'- ACATCTGGTTCACTGGAACG -3'
(R):5'- CTGTAGGCAAATATCTGTGACCC -3'
Posted On 2013-05-09