Incidental Mutation 'R0485:Car7'
ID 42213
Institutional Source Beutler Lab
Gene Symbol Car7
Ensembl Gene ENSMUSG00000031883
Gene Name carbonic anhydrase 7
Synonyms
MMRRC Submission 038684-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0485 (G1)
Quality Score 170
Status Validated
Chromosome 8
Chromosomal Location 105261326-105276979 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105270170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 57 (M57L)
Ref Sequence ENSEMBL: ENSMUSP00000052136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056051] [ENSMUST00000159416] [ENSMUST00000162761]
AlphaFold Q9ERQ8
Predicted Effect probably benign
Transcript: ENSMUST00000056051
AA Change: M57L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000052136
Gene: ENSMUSG00000031883
AA Change: M57L

DomainStartEndE-ValueType
Carb_anhydrase 7 262 7.17e-144 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159416
AA Change: M1L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125112
Gene: ENSMUSG00000031883
AA Change: M1L

DomainStartEndE-ValueType
Carb_anhydrase 1 206 1.93e-94 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162399
Predicted Effect probably benign
Transcript: ENSMUST00000162761
AA Change: M1L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125404
Gene: ENSMUSG00000031883
AA Change: M1L

DomainStartEndE-ValueType
Carb_anhydrase 1 206 1.93e-94 SMART
Meta Mutation Damage Score 0.0966 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.4%
Validation Efficiency 100% (95/95)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik A G 16: 3,725,511 (GRCm39) V5A probably damaging Het
Abi3bp A G 16: 56,424,375 (GRCm39) probably null Het
Acot11 G A 4: 106,619,224 (GRCm39) R184C probably damaging Het
Adgre5 A T 8: 84,458,627 (GRCm39) I133N probably damaging Het
Afap1 A T 5: 36,108,347 (GRCm39) Q231L probably damaging Het
Alg12 T C 15: 88,695,630 (GRCm39) T289A probably benign Het
Ank3 T A 10: 69,718,374 (GRCm39) S542T possibly damaging Het
Ankmy2 G A 12: 36,232,389 (GRCm39) R138Q possibly damaging Het
Ascc2 C T 11: 4,622,302 (GRCm39) A456V probably benign Het
Atg4c G A 4: 99,112,719 (GRCm39) V289I probably benign Het
Bbs7 A T 3: 36,657,022 (GRCm39) Y269N probably damaging Het
Bcas3 T A 11: 85,386,676 (GRCm39) D370E probably damaging Het
Bicc1 T G 10: 70,761,145 (GRCm39) E955A probably damaging Het
Bok T C 1: 93,616,999 (GRCm39) F115S probably damaging Het
Caap1 A T 4: 94,438,758 (GRCm39) probably null Het
Cacna2d3 T A 14: 29,256,476 (GRCm39) M95L possibly damaging Het
Calcrl T A 2: 84,200,435 (GRCm39) D115V probably benign Het
Casq1 G T 1: 172,037,957 (GRCm39) probably benign Het
Cep290 A T 10: 100,385,206 (GRCm39) D1894V possibly damaging Het
Clec4a2 T A 6: 123,100,588 (GRCm39) N14K probably damaging Het
Col16a1 G T 4: 129,984,290 (GRCm39) probably benign Het
Col5a1 T C 2: 27,880,109 (GRCm39) probably benign Het
Col5a2 A T 1: 45,417,642 (GRCm39) I1311N probably damaging Het
Col5a3 T C 9: 20,694,004 (GRCm39) T1050A probably damaging Het
Colgalt2 A T 1: 152,360,622 (GRCm39) I220F probably damaging Het
Cpb1 A T 3: 20,329,792 (GRCm39) V8E unknown Het
Dchs1 C T 7: 105,421,934 (GRCm39) R162H probably benign Het
Dhx37 A G 5: 125,499,295 (GRCm39) Y638H probably benign Het
Dhx40 T G 11: 86,662,088 (GRCm39) probably benign Het
Ehd2 T A 7: 15,686,001 (GRCm39) Q357L probably benign Het
Ewsr1 T C 11: 5,020,737 (GRCm39) probably benign Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Gid8 T A 2: 180,355,004 (GRCm39) Y3* probably null Het
Gm10212 A C 19: 11,548,174 (GRCm39) noncoding transcript Het
Grin3b T A 10: 79,809,890 (GRCm39) N465K possibly damaging Het
H1f3 A T 13: 23,739,924 (GRCm39) K221* probably null Het
Htr4 A T 18: 62,561,225 (GRCm39) N162I probably damaging Het
Irag2 T C 6: 145,110,938 (GRCm39) C248R probably damaging Het
Itga3 T C 11: 94,952,796 (GRCm39) D325G probably benign Het
Itpr3 T G 17: 27,330,903 (GRCm39) V1737G probably damaging Het
Kcnab2 C T 4: 152,479,439 (GRCm39) V251I probably benign Het
Kcnn2 A T 18: 45,693,215 (GRCm39) I264L probably benign Het
Klhl41 T C 2: 69,501,600 (GRCm39) Y354H probably damaging Het
Klra6 T C 6: 130,000,601 (GRCm39) I68V probably benign Het
Letm2 G T 8: 26,082,574 (GRCm39) P178Q probably damaging Het
Lypd11 C A 7: 24,422,170 (GRCm39) C193F possibly damaging Het
Mbtps1 A T 8: 120,249,340 (GRCm39) probably benign Het
Mecom C T 3: 30,035,121 (GRCm39) probably benign Het
Mrps5 T A 2: 127,433,745 (GRCm39) S45T possibly damaging Het
Msra T A 14: 64,678,210 (GRCm39) I29F possibly damaging Het
Mup5 T C 4: 61,751,229 (GRCm39) probably null Het
Myo1a T C 10: 127,555,111 (GRCm39) probably benign Het
Myrip C A 9: 120,270,443 (GRCm39) N564K probably benign Het
Naa20 T A 2: 145,757,592 (GRCm39) D148E probably damaging Het
Naga T G 15: 82,220,956 (GRCm39) probably benign Het
Npc1 A G 18: 12,346,503 (GRCm39) V231A probably benign Het
Nphs1 T C 7: 30,166,940 (GRCm39) F716L probably benign Het
Or8s5 T C 15: 98,238,810 (GRCm39) H20R probably benign Het
Parn G C 16: 13,472,299 (GRCm39) probably benign Het
Polk A T 13: 96,620,272 (GRCm39) C664S probably benign Het
Prkar2b A G 12: 32,026,034 (GRCm39) probably benign Het
Prkdc A G 16: 15,651,604 (GRCm39) E3747G probably damaging Het
Prmt5 A T 14: 54,748,712 (GRCm39) M362K probably damaging Het
Prob1 T C 18: 35,786,878 (GRCm39) T459A possibly damaging Het
Rttn C T 18: 89,108,543 (GRCm39) probably benign Het
Scn1a T C 2: 66,104,269 (GRCm39) M1664V probably damaging Het
Sez6 T A 11: 77,844,639 (GRCm39) L154H probably damaging Het
Sh3tc1 A G 5: 35,859,356 (GRCm39) probably benign Het
Shkbp1 C T 7: 27,048,006 (GRCm39) G334D probably damaging Het
Slc8a1 A T 17: 81,955,422 (GRCm39) F539I probably damaging Het
Spata31e5 G T 1: 28,817,223 (GRCm39) Q270K probably damaging Het
Sptan1 T C 2: 29,903,860 (GRCm39) probably benign Het
Ssc5d C T 7: 4,940,470 (GRCm39) T861M probably damaging Het
Tbx5 A T 5: 120,021,523 (GRCm39) M510L probably benign Het
Tdp1 A G 12: 99,876,101 (GRCm39) T351A probably benign Het
Tmc8 T A 11: 117,682,904 (GRCm39) probably benign Het
Tmco5 T A 2: 116,720,588 (GRCm39) D205E probably benign Het
Tmprss2 T C 16: 97,373,194 (GRCm39) probably benign Het
Top6bl A T 19: 4,708,442 (GRCm39) I350N probably damaging Het
Tph1 T A 7: 46,299,448 (GRCm39) K364N probably benign Het
Trim24 T C 6: 37,934,001 (GRCm39) L648P probably damaging Het
Trmt6 C A 2: 132,650,950 (GRCm39) probably benign Het
Ube2i A T 17: 25,488,259 (GRCm39) probably benign Het
Vcan A C 13: 89,852,779 (GRCm39) L727R possibly damaging Het
Vmn2r28 T C 7: 5,491,689 (GRCm39) Y186C probably damaging Het
Wars1 C A 12: 108,841,083 (GRCm39) D232Y probably damaging Het
Xrcc5 T C 1: 72,378,104 (GRCm39) probably benign Het
Zbtb24 T A 10: 41,340,532 (GRCm39) S543T probably damaging Het
Zfp91 A G 19: 12,753,353 (GRCm39) 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
R0409:Car7 UTSW 8 105,275,056 (GRCm39) missense probably damaging 1.00
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'- TTTCCCAGACAAGGTAATGGCGG -3'
(R):5'- TTTATGCAATGAGAGGCTGAGCCC -3'

Sequencing Primer
(F):5'- GGCTTGTCTCCCAGAGCTTG -3'
(R):5'- CCAGCCCCAGGCTTTAC -3'
Posted On 2013-05-23