Incidental Mutation 'R2910:Car15'
ID 261210
Institutional Source Beutler Lab
Gene Symbol Car15
Ensembl Gene ENSMUSG00000090236
Gene Name carbonic anhydrase 15
Synonyms Cals2
MMRRC Submission 040497-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R2910 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 17653140-17656050 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 17656006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012152] [ENSMUST00000066127] [ENSMUST00000117082] [ENSMUST00000117945] [ENSMUST00000118960] [ENSMUST00000150068] [ENSMUST00000155943]
AlphaFold Q99N23
Predicted Effect probably benign
Transcript: ENSMUST00000012152
SMART Domains Protein: ENSMUSP00000012152
Gene: ENSMUSG00000003166

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LDLa 29 68 6.28e-11 SMART
CLECT 114 265 1.06e-14 SMART
VWC 270 331 1.42e-9 SMART
transmembrane domain 345 367 N/A INTRINSIC
low complexity region 369 377 N/A INTRINSIC
low complexity region 438 449 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000066127
SMART Domains Protein: ENSMUSP00000064603
Gene: ENSMUSG00000003166

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LDLa 29 68 6.28e-11 SMART
CLECT 111 262 1.06e-14 SMART
transmembrane domain 274 296 N/A INTRINSIC
low complexity region 298 306 N/A INTRINSIC
low complexity region 367 378 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117082
SMART Domains Protein: ENSMUSP00000113506
Gene: ENSMUSG00000003166

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LDLa 29 68 5.86e-11 SMART
CLECT 113 264 1.06e-14 SMART
VWC 269 330 1.42e-9 SMART
transmembrane domain 344 366 N/A INTRINSIC
low complexity region 368 376 N/A INTRINSIC
low complexity region 437 448 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117945
SMART Domains Protein: ENSMUSP00000112783
Gene: ENSMUSG00000003166

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LDLa 29 68 6.28e-11 SMART
CLECT 111 262 1.06e-14 SMART
VWC 267 328 1.42e-9 SMART
transmembrane domain 342 364 N/A INTRINSIC
low complexity region 366 374 N/A INTRINSIC
low complexity region 435 446 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118960
SMART Domains Protein: ENSMUSP00000113400
Gene: ENSMUSG00000090236

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Carb_anhydrase 25 293 2.31e-106 SMART
low complexity region 307 320 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135229
Predicted Effect probably benign
Transcript: ENSMUST00000150068
SMART Domains Protein: ENSMUSP00000115071
Gene: ENSMUSG00000092470

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LDLa 29 68 6.28e-11 SMART
CLECT 114 265 1.06e-14 SMART
VWC 270 331 1.42e-9 SMART
transmembrane domain 345 367 N/A INTRINSIC
low complexity region 369 377 N/A INTRINSIC
low complexity region 438 449 N/A INTRINSIC
low complexity region 559 565 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231306
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231909
Predicted Effect probably benign
Transcript: ENSMUST00000155943
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232529
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 96% (49/51)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,378,982 (GRCm39) T645A probably damaging Het
Acap1 A G 11: 69,777,902 (GRCm39) probably benign Het
Adgrv1 G A 13: 81,705,238 (GRCm39) A1524V possibly damaging Het
Agbl1 A G 7: 76,069,586 (GRCm39) N121D probably benign Het
Ahnak A G 19: 8,989,018 (GRCm39) D3434G probably damaging Het
Ankrd11 A T 8: 123,635,537 (GRCm39) D32E probably damaging Het
Asxl1 T C 2: 153,242,959 (GRCm39) S1170P probably benign Het
Atp8b3 G A 10: 80,355,746 (GRCm39) S1322F possibly damaging Het
Cep104 T A 4: 154,079,884 (GRCm39) probably null Het
Cnnm1 A G 19: 43,458,086 (GRCm39) I633V possibly damaging Het
Cog8 A T 8: 107,780,853 (GRCm39) V135E probably benign Het
Cts6 A G 13: 61,344,215 (GRCm39) V279A probably damaging Het
Ddx1 C T 12: 13,281,441 (GRCm39) probably null Het
Dock2 A G 11: 34,182,910 (GRCm39) probably benign Het
Ero1b T A 13: 12,615,178 (GRCm39) D336E probably damaging Het
F11 C G 8: 45,694,486 (GRCm39) *625S probably null Het
F5 A G 1: 164,032,389 (GRCm39) M1779V probably benign Het
Fam227a A T 15: 79,520,935 (GRCm39) D296E possibly damaging Het
Fbxo38 T C 18: 62,652,878 (GRCm39) D523G probably benign Het
Ggt1 G A 10: 75,416,430 (GRCm39) V275M probably benign Het
Gm379 A C X: 107,708,371 (GRCm39) F43V possibly damaging Het
Grhl3 T C 4: 135,286,457 (GRCm39) I75V probably benign Het
Iqcm A T 8: 76,441,404 (GRCm39) I226F probably benign Het
Kcnq1 T G 7: 142,979,699 (GRCm39) L615R probably damaging Het
Lcp2 G A 11: 34,018,970 (GRCm39) probably null Het
Lypd8l G A 11: 58,499,252 (GRCm39) Q189* probably null Het
Mbtps1 A G 8: 120,272,776 (GRCm39) I123T possibly damaging Het
Muc5ac C T 7: 141,361,378 (GRCm39) T1563I probably damaging Het
Odf2l A C 3: 144,830,084 (GRCm39) I19L probably benign Het
Or5ak23 T A 2: 85,244,695 (GRCm39) H176L probably damaging Het
Or5h25 C T 16: 58,930,544 (GRCm39) R143H probably benign Het
Pigr A G 1: 130,777,270 (GRCm39) D692G probably damaging Het
Pkd1l3 A G 8: 110,394,268 (GRCm39) probably benign Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 106,103,084 (GRCm39) probably benign Het
Reep2 T C 18: 34,978,743 (GRCm39) probably null Het
Rubcnl C T 14: 75,278,248 (GRCm39) T344I probably benign Het
Sema6d C A 2: 124,506,957 (GRCm39) P941T probably damaging Het
Shcbp1l C A 1: 153,304,372 (GRCm39) L144I probably damaging Het
Slc7a1 T C 5: 148,289,067 (GRCm39) E60G probably benign Het
Snx2 C T 18: 53,332,946 (GRCm39) P207S probably damaging Het
Spata31 T G 13: 65,068,250 (GRCm39) S133A probably benign Het
Tac1 A G 6: 7,559,097 (GRCm39) probably null Het
Tfpi A C 2: 84,274,437 (GRCm39) V184G possibly damaging Het
Tmeff1 C A 4: 48,614,961 (GRCm39) N139K possibly damaging Het
Tnxb A G 17: 34,891,424 (GRCm39) D589G probably damaging Het
Trpc1 C A 9: 95,631,895 (GRCm39) A16S probably benign Het
Vmn2r106 A C 17: 20,498,946 (GRCm39) L322V probably damaging Het
Vmn2r69 G T 7: 85,055,918 (GRCm39) A740D probably damaging Het
Other mutations in Car15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00822:Car15 APN 16 17,654,498 (GRCm39) missense probably damaging 1.00
IGL01292:Car15 APN 16 17,653,393 (GRCm39) missense probably damaging 1.00
IGL01361:Car15 APN 16 17,655,718 (GRCm39) missense probably damaging 1.00
IGL03061:Car15 APN 16 17,653,249 (GRCm39) missense possibly damaging 0.59
R0383:Car15 UTSW 16 17,654,617 (GRCm39) nonsense probably null
R0544:Car15 UTSW 16 17,653,680 (GRCm39) splice site probably benign
R1771:Car15 UTSW 16 17,654,730 (GRCm39) missense probably damaging 0.97
R1951:Car15 UTSW 16 17,655,269 (GRCm39) missense possibly damaging 0.47
R2318:Car15 UTSW 16 17,654,463 (GRCm39) missense probably benign 0.02
R4370:Car15 UTSW 16 17,653,299 (GRCm39) missense probably damaging 0.99
R4843:Car15 UTSW 16 17,654,472 (GRCm39) missense possibly damaging 0.60
R5110:Car15 UTSW 16 17,653,211 (GRCm39) missense possibly damaging 0.53
R6251:Car15 UTSW 16 17,655,227 (GRCm39) missense probably benign 0.09
R6360:Car15 UTSW 16 17,655,930 (GRCm39) missense probably benign 0.01
R6699:Car15 UTSW 16 17,654,438 (GRCm39) missense probably null 0.43
R7127:Car15 UTSW 16 17,656,060 (GRCm39) unclassified probably benign
R7567:Car15 UTSW 16 17,654,652 (GRCm39) missense probably damaging 1.00
R8289:Car15 UTSW 16 17,654,580 (GRCm39) critical splice donor site probably null
R8543:Car15 UTSW 16 17,654,713 (GRCm39) missense probably benign 0.00
R9252:Car15 UTSW 16 17,653,246 (GRCm39) nonsense probably null
X0026:Car15 UTSW 16 17,653,396 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TCTTGACCCCAGTCCAGGAATG -3'
(R):5'- GCAGCTCTGAAGTTTAGGCTC -3'

Sequencing Primer
(F):5'- CCAGTAGAGGCTGTTCCCTTG -3'
(R):5'- CCAGCCCACCTCCATTCCTAG -3'
Posted On 2015-01-23