Incidental Mutation 'R5110:Car15'
ID393824
Institutional Source Beutler Lab
Gene Symbol Car15
Ensembl Gene ENSMUSG00000090236
Gene Namecarbonic anhydrase 15
SynonymsCals2
MMRRC Submission 042698-MU
Accession Numbers

Genbank: NM_030558; MGI: 1931324  

Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #R5110 (G1)
Quality Score225
Status Validated
Chromosome16
Chromosomal Location17835276-17838364 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 17835347 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 319 (R319G)
Ref Sequence ENSEMBL: ENSMUSP00000113400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118960] [ENSMUST00000150068]
Predicted Effect possibly damaging
Transcript: ENSMUST00000118960
AA Change: R319G

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113400
Gene: ENSMUSG00000090236
AA Change: R319G

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: ENSMUST00000231865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232529
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik C A 9: 124,295,357 probably null Het
2310016G11Rik G A 7: 44,677,862 noncoding transcript Het
Abi2 G A 1: 60,450,121 V98I probably benign Het
Adam21 T C 12: 81,560,215 T258A probably benign Het
Adam33 A T 2: 131,053,770 C542S probably damaging Het
Adamts15 A G 9: 30,921,444 V265A probably benign Het
Ahnak A T 19: 9,014,759 D4469V probably damaging Het
Aicda A G 6: 122,561,185 N101D probably benign Het
Als2 A T 1: 59,185,441 D1040E probably damaging Het
Cdc23 C A 18: 34,651,689 V7L unknown Het
Col1a1 T C 11: 94,941,593 probably null Het
Col25a1 A G 3: 130,584,725 *594W probably null Het
Cwf19l2 A G 9: 3,450,012 probably null Het
Dctn4 C T 18: 60,546,315 P236S probably damaging Het
Ehmt1 C A 2: 24,852,790 C459F probably benign Het
Enox1 T C 14: 77,707,687 probably null Het
Fam136b-ps A G 15: 31,276,710 probably benign Het
Fzd1 T C 5: 4,756,448 D378G probably benign Het
Golga5 G A 12: 102,472,077 R17Q probably benign Het
Hk1 A T 10: 62,286,651 Y422N probably damaging Het
Hsf4 A G 8: 105,272,795 D255G probably benign Het
Ift81 A G 5: 122,551,058 V665A probably benign Het
Igkv13-84 T C 6: 68,939,608 F3L probably benign Het
Kcnh1 T A 1: 192,337,747 S433R possibly damaging Het
Ktn1 A G 14: 47,704,287 probably benign Het
Lrp4 A T 2: 91,497,072 D1471V possibly damaging Het
Macf1 A T 4: 123,368,008 D6990E probably damaging Het
Map3k6 G A 4: 133,247,548 probably benign Het
Miox T A 15: 89,335,556 D82E probably benign Het
Olfr722 T G 14: 49,895,575 I76L possibly damaging Het
Ovgp1 G C 3: 105,977,783 R133P probably damaging Het
Per2 G A 1: 91,429,515 T642I possibly damaging Het
Pparg T C 6: 115,473,003 V321A probably damaging Het
Pptc7 T A 5: 122,308,249 N17K probably benign Het
Prpf19 T C 19: 10,899,287 probably benign Het
Rai14 T C 15: 10,690,410 probably benign Het
Sardh T C 2: 27,189,547 D911G probably benign Het
Sbf2 T A 7: 110,364,657 T994S probably benign Het
Slc1a1 G A 19: 28,911,808 E494K probably benign Het
Smarcc1 A G 9: 110,197,784 K771E possibly damaging Het
St5 A G 7: 109,542,490 S556P probably benign Het
Stim1 T C 7: 102,268,422 V3A unknown Het
Syne3 G A 12: 104,943,370 R736C probably benign Het
Synj2 T C 17: 6,037,715 V986A probably benign Het
Tinag A G 9: 76,952,007 S440P probably damaging Het
Tshz2 A G 2: 169,884,197 T238A possibly damaging Het
Ttc8 T C 12: 98,942,303 M17T probably benign Het
Tubgcp5 G A 7: 55,808,637 R432Q probably damaging Het
Ugt1a10 T A 1: 88,056,252 probably null Het
Usp4 T A 9: 108,362,678 I202N probably damaging Het
Vmn1r194 T G 13: 22,245,000 S262R probably benign Het
Vmn2r101 T C 17: 19,611,635 F631S possibly damaging Het
Vps13b T A 15: 35,770,809 S2133T probably damaging Het
Zfp13 C A 17: 23,580,860 V77F probably benign Het
Zscan10 T A 17: 23,609,632 C306S 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
IGL01361:Car15 APN 16 17837854 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
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
Predicted Primers PCR Primer
(F):5'- TGGACAAGAGGACAGTCACC -3'
(R):5'- TCAGGTAGTCCAGTTCCAGG -3'

Sequencing Primer
(F):5'- CAAGAGCCTCTCAGTTCTGTGG -3'
(R):5'- TAGTCCAGTTCCAGGCCGTG -3'
Posted On2016-06-15