Incidental Mutation 'IGL01361:Car15'
ID75745
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car15
Ensembl Gene ENSMUSG00000090236
Gene Namecarbonic anhydrase 15
SynonymsCals2
Accession Numbers

Genbank: NM_030558; MGI: 1931324  

Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL01361
Quality Score
Status
Chromosome16
Chromosomal Location17835276-17838364 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 17837854 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 27 (Y27C)
Ref Sequence ENSEMBL: ENSMUSP00000113400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012152] [ENSMUST00000066127] [ENSMUST00000117082] [ENSMUST00000117945] [ENSMUST00000118960] [ENSMUST00000150068] [ENSMUST00000155943]
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 damaging
Transcript: ENSMUST00000118960
AA Change: Y27C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113400
Gene: ENSMUSG00000090236
AA Change: Y27C

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 silent
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 probably benign
Transcript: ENSMUST00000155943
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231306
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232529
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 T A 11: 5,596,706 probably benign Het
C1qtnf3 G A 15: 10,960,682 G157D probably damaging Het
Cacna1b T C 2: 24,679,095 E940G possibly damaging Het
Camta1 A G 4: 151,144,692 L561P probably damaging Het
Catsper1 G T 19: 5,339,479 S474I probably damaging Het
Cps1 A G 1: 67,195,145 D897G probably benign Het
Crtc1 A G 8: 70,387,603 L540P probably damaging Het
Fdps A G 3: 89,094,442 probably benign Het
Gprc6a A G 10: 51,615,430 I741T probably damaging Het
Hdac7 A C 15: 97,811,442 M47R possibly damaging Het
Kalrn T C 16: 34,175,722 probably benign Het
Kat14 C A 2: 144,406,620 probably null Het
Kcnu1 T C 8: 25,886,768 V390A possibly damaging Het
Kdm5a T A 6: 120,399,016 Y578N probably damaging Het
Lrp1b T C 2: 41,110,751 probably benign Het
Mpc2 G T 1: 165,479,523 A98S probably benign Het
Nek10 T C 14: 14,850,957 I334T probably damaging Het
Nufip2 T A 11: 77,692,370 V370E possibly damaging Het
Nup160 C A 2: 90,684,012 Y101* probably null Het
Obscn T A 11: 59,028,889 Y6174F probably damaging Het
Omp A T 7: 98,145,282 I46N probably benign Het
Pcbp4 A T 9: 106,463,249 probably null Het
Pctp A G 11: 89,988,726 V103A probably damaging Het
Pla2r1 A G 2: 60,479,470 Y590H probably damaging Het
Ppfibp2 T C 7: 107,744,301 probably null Het
Reln G A 5: 21,919,021 T2829M probably benign Het
Sh3yl1 T A 12: 30,939,564 probably benign Het
Sipa1l3 A T 7: 29,348,687 Y210N probably damaging Het
Slc33a1 C A 3: 63,943,412 C497F probably damaging Het
Srp9 G A 1: 182,131,337 C25Y probably damaging Het
Traf4 C A 11: 78,165,400 R14L possibly damaging Het
Usf3 C A 16: 44,212,637 probably null Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Vps13a C T 19: 16,743,007 A405T probably damaging Het
Zan A T 5: 137,414,342 probably benign Het
Zcchc6 A T 13: 59,785,800 I894K probably damaging Het
Other mutations in Car15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00822:Car15 APN 16 17836634 missense probably damaging 1.00
IGL01292:Car15 APN 16 17835529 missense probably damaging 1.00
IGL03061:Car15 APN 16 17835385 missense possibly damaging 0.59
R0383:Car15 UTSW 16 17836753 nonsense probably null
R0544:Car15 UTSW 16 17835816 splice site probably benign
R1771:Car15 UTSW 16 17836866 missense probably damaging 0.97
R1951:Car15 UTSW 16 17837405 missense possibly damaging 0.47
R2318:Car15 UTSW 16 17836599 missense probably benign 0.02
R2910:Car15 UTSW 16 17838142 unclassified probably benign
R4370:Car15 UTSW 16 17835435 missense probably damaging 0.99
R4843:Car15 UTSW 16 17836608 missense possibly damaging 0.60
R5110:Car15 UTSW 16 17835347 missense possibly damaging 0.53
R6251:Car15 UTSW 16 17837363 missense probably benign 0.09
R6360:Car15 UTSW 16 17838066 missense probably benign 0.01
R6699:Car15 UTSW 16 17836574 missense probably null 0.43
R7127:Car15 UTSW 16 17838196 unclassified probably benign
R7567:Car15 UTSW 16 17836788 missense probably damaging 1.00
X0026:Car15 UTSW 16 17835532 missense probably benign 0.09
Posted On2013-10-07