Incidental Mutation 'R1627:Car6'
ID172550
Institutional Source Beutler Lab
Gene Symbol Car6
Ensembl Gene ENSMUSG00000028972
Gene Namecarbonic anhydrase 6
SynonymsDOC1
MMRRC Submission 039664-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1627 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location150187015-150201332 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 150192578 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 152 (V152D)
Ref Sequence ENSEMBL: ENSMUSP00000101308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030817] [ENSMUST00000105683]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030817
AA Change: V208D

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030817
Gene: ENSMUSG00000028972
AA Change: V208D

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Carb_anhydrase 21 277 4.31e-106 SMART
low complexity region 295 309 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105683
AA Change: V152D

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101308
Gene: ENSMUSG00000028972
AA Change: V152D

DomainStartEndE-ValueType
Carb_anhydrase 1 221 3.55e-75 SMART
low complexity region 239 253 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134648
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increase in the number of lymphoid follicles in Peyer's patches. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 104,936,014 M630T probably benign Het
Anpep T C 7: 79,842,011 I81V probably benign Het
Bub1 A G 2: 127,809,013 S627P probably benign Het
C1s1 T A 6: 124,537,480 N139I probably damaging Het
Cdh19 C A 1: 110,919,645 M411I probably benign Het
Cep95 A G 11: 106,809,705 E322G probably damaging Het
Chek1 C A 9: 36,714,441 V303L probably benign Het
Dctn1 T A 6: 83,195,082 I818N probably damaging Het
Dscaml1 T C 9: 45,753,147 S2107P probably damaging Het
Dusp14 A G 11: 84,048,771 I148T probably damaging Het
Eps15 A G 4: 109,370,557 D645G probably damaging Het
Etl4 A G 2: 20,801,579 N1153S possibly damaging Het
Fer1l6 A G 15: 58,641,879 D1541G probably benign Het
Gm14496 A G 2: 181,998,778 S513G probably damaging Het
H2-D1 G T 17: 35,263,495 A64S possibly damaging Het
Hsd17b2 T A 8: 117,702,170 F59I possibly damaging Het
Itgb7 T G 15: 102,223,476 Q224P probably damaging Het
Jak1 A G 4: 101,191,624 probably null Het
Kdm1b G A 13: 47,064,231 probably null Het
Lrp8 A G 4: 107,854,416 I466V probably damaging Het
Mga A G 2: 119,964,562 D2909G probably damaging Het
Nol8 T C 13: 49,661,504 S345P probably benign Het
Nup210l T C 3: 90,144,169 M540T probably benign Het
Obscn C T 11: 59,112,638 R1370H probably benign Het
Olfr1368 A G 13: 21,142,955 F34S probably damaging Het
Pbx3 A G 2: 34,175,953 V375A probably benign Het
Ppp1r9a T C 6: 4,906,168 V241A possibly damaging Het
Psmd6 C T 14: 14,112,539 V354M probably damaging Het
Rab2a T C 4: 8,578,481 F94L probably damaging Het
Rev1 T C 1: 38,055,490 D949G probably damaging Het
Ric8a A G 7: 140,858,178 D110G probably damaging Het
Rlf A T 4: 121,150,000 D594E probably benign Het
Sept1 C A 7: 127,218,058 probably null Het
Slco5a1 G C 1: 12,990,383 P38R probably damaging Het
Snx33 C A 9: 56,925,957 R276L probably damaging Het
Taf11 A T 17: 27,905,279 D101E probably benign Het
Ttn A G 2: 76,934,220 S3168P probably damaging Het
Uggt2 T C 14: 119,057,663 E41G possibly damaging Het
Vmn2r80 A G 10: 79,194,415 R692G probably damaging Het
Zfp763 A T 17: 33,021,784 W24R probably damaging Het
Other mutations in Car6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Car6 APN 4 150198153 missense probably benign 0.38
IGL02483:Car6 APN 4 150196129 missense probably damaging 1.00
IGL03267:Car6 APN 4 150196046 splice site probably benign
R0226:Car6 UTSW 4 150187508 missense probably damaging 0.97
R0987:Car6 UTSW 4 150197343 missense probably damaging 1.00
R1569:Car6 UTSW 4 150201042 missense probably damaging 1.00
R2080:Car6 UTSW 4 150198141 missense probably benign 0.01
R4812:Car6 UTSW 4 150197415 missense probably damaging 0.96
R5902:Car6 UTSW 4 150187499 missense possibly damaging 0.82
R5929:Car6 UTSW 4 150196135 missense probably damaging 1.00
R6924:Car6 UTSW 4 150189256 splice site probably null
Predicted Primers PCR Primer
(F):5'- TGCTACCCAGGCAGTCAAGAAGAG -3'
(R):5'- ACATTCCTGAGGCAAAGCCAGAG -3'

Sequencing Primer
(F):5'- GCAGTCAAGAAGAGGCTTTG -3'
(R):5'- tgtttgtttgtttgtttgtttgtttc -3'
Posted On2014-04-24