Incidental Mutation 'IGL02306:Car7'
ID287603
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 #IGL02306
Quality Score
Status
Chromosome8
Chromosomal Location104534689-104550343 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 104548998 bp
ZygosityHeterozygous
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]
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: 122,158,395 Y680C probably damaging Het
Abcb11 C T 2: 69,265,457 W846* probably null Het
Adam34 G A 8: 43,650,485 R708C probably benign Het
Adam6a T A 12: 113,545,723 L572Q possibly damaging Het
Aldoart2 A G 12: 55,565,704 Y138C probably damaging Het
Amigo1 T A 3: 108,187,986 F267Y probably benign Het
Ccar2 A T 14: 70,142,022 M509K probably benign Het
Cd160 A T 3: 96,808,823 I17N possibly damaging Het
Cd163l1 T C 7: 140,223,356 C278R probably damaging Het
Cmya5 C T 13: 93,098,019 G187D probably damaging Het
Crot A T 5: 8,968,701 V555E possibly damaging Het
Cstf1 C T 2: 172,372,971 T4I probably benign Het
Cyp2a12 A G 7: 27,032,583 K250E probably damaging Het
Deaf1 T C 7: 141,324,181 probably null Het
Dse C T 10: 34,160,134 E249K probably damaging Het
E4f1 G T 17: 24,446,929 R88S probably damaging Het
Fam160b2 T C 14: 70,588,997 D217G probably benign Het
Fam83a A C 15: 57,995,308 D248A probably damaging Het
Hadhb T A 5: 30,166,749 L66Q probably null Het
Kalrn T C 16: 34,310,527 E440G probably damaging Het
Kif3b A G 2: 153,320,652 Y527C probably damaging Het
Krt4 T C 15: 101,921,305 I263V probably benign Het
Krtap29-1 A T 11: 99,978,266 V263E probably damaging Het
Mms19 A G 19: 41,966,264 L72P probably damaging Het
Mylpf T A 7: 127,213,158 probably benign Het
Nalcn T A 14: 123,323,338 I776F probably benign Het
Nedd4l T G 18: 65,172,954 S292R possibly damaging Het
Nlrc3 A C 16: 3,964,824 D240E probably damaging Het
Obscn A T 11: 58,999,671 I7345N unknown Het
Olfr1189 A T 2: 88,592,606 K267N probably benign Het
Ostn A T 16: 27,346,941 S127C probably damaging Het
Patl1 A G 19: 11,942,886 K735E possibly damaging Het
Pde12 A G 14: 26,668,378 L392P possibly damaging Het
Plxdc2 A G 2: 16,660,774 I213V probably benign Het
Plxna4 T A 6: 32,206,124 Y948F probably benign Het
Prlhr A T 19: 60,467,915 V71E probably damaging Het
Prlr C T 15: 10,328,674 P412S probably benign Het
Prmt9 A G 8: 77,560,818 K196R probably benign Het
Rundc3a T A 11: 102,400,938 L387Q probably damaging Het
Ryr3 T C 2: 112,834,114 I1611V probably damaging Het
Ryr3 A G 2: 112,847,399 probably null Het
Sfxn2 T A 19: 46,590,548 M240K probably damaging Het
Skor2 T C 18: 76,862,679 S901P probably benign Het
Smad4 T C 18: 73,662,869 probably null Het
Snrnp40 T G 4: 130,365,100 C100W probably benign Het
Spink5 T A 18: 43,964,444 D19E probably damaging Het
Sult1d1 T A 5: 87,556,055 probably benign Het
Wdr59 G A 8: 111,492,733 L231F probably damaging Het
Other mutations in Car7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01576:Car7 APN 8 104549548 splice site probably null
IGL02936:Car7 APN 8 104548222 missense possibly damaging 0.82
IGL03125:Car7 APN 8 104548219 missense probably benign 0.00
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 On2015-04-16