Incidental Mutation 'R9252:Car15'
ID 701624
Institutional Source Beutler Lab
Gene Symbol Car15
Ensembl Gene ENSMUSG00000090236
Gene Name carbonic anhydrase 15
Synonyms Cals2
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R9252 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 17653140-17656050 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 17653246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 307 (L307*)
Ref Sequence ENSEMBL: ENSMUSP00000113400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012152] [ENSMUST00000066127] [ENSMUST00000117945] [ENSMUST00000118960] [ENSMUST00000150068]
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: 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 null
Transcript: ENSMUST00000118960
AA Change: L307*
SMART Domains Protein: ENSMUSP00000113400
Gene: ENSMUSG00000090236
AA Change: L307*

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A G 16: 30,920,641 (GRCm39) probably null Het
Adgrb3 T C 1: 25,865,496 (GRCm39) N116D probably benign Het
Arfgef1 T A 1: 10,243,122 (GRCm39) R1073* probably null Het
Atp6v1d T A 12: 78,904,023 (GRCm39) Q46L probably benign Het
Brme1 A G 8: 84,898,878 (GRCm39) S589G possibly damaging Het
Catspere2 A T 1: 177,938,996 (GRCm39) H623L possibly damaging Het
Ccdc146 T C 5: 21,502,023 (GRCm39) D797G probably damaging Het
Ccdc27 A T 4: 154,125,507 (GRCm39) D112E unknown Het
Ccp110 A G 7: 118,321,673 (GRCm39) I443V probably benign Het
Cd74 T A 18: 60,941,364 (GRCm39) M103K possibly damaging Het
Cdca2 T A 14: 67,914,831 (GRCm39) R809S possibly damaging Het
Cfap46 A T 7: 139,198,165 (GRCm39) V2061E unknown Het
Cimap1b T C 15: 89,262,601 (GRCm39) S119G probably benign Het
Ddx11 G A 17: 66,457,807 (GRCm39) E873K probably benign Het
Gucy2d G A 7: 98,116,979 (GRCm39) probably null Het
Herc1 T A 9: 66,309,834 (GRCm39) S1061R probably damaging Het
Ildr1 G A 16: 36,536,574 (GRCm39) R201H probably damaging Het
Jakmip2 T A 18: 43,715,194 (GRCm39) I111F possibly damaging Het
Kcnj2 A G 11: 110,963,355 (GRCm39) D249G probably damaging Het
Kif1a T A 1: 93,002,776 (GRCm39) T208S probably damaging Het
Mgam T G 6: 40,706,577 (GRCm39) M76R probably damaging Het
Mib1 T G 18: 10,800,088 (GRCm39) I809S probably benign Het
Myh8 G T 11: 67,177,302 (GRCm39) R456L probably damaging Het
Mzf1 T C 7: 12,777,647 (GRCm39) T665A probably benign Het
Nfya T C 17: 48,699,943 (GRCm39) H27R Het
Nhsl3 A G 4: 129,117,269 (GRCm39) V510A probably benign Het
Nktr T C 9: 121,579,415 (GRCm39) M1161T unknown Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Or13c7b C T 4: 43,821,109 (GRCm39) G84D probably benign Het
Pde8b C T 13: 95,169,424 (GRCm39) D567N probably damaging Het
Pik3cd A G 4: 149,740,087 (GRCm39) I491T possibly damaging Het
Plcd3 G T 11: 102,968,380 (GRCm39) Y392* probably null Het
Plcd4 A G 1: 74,588,359 (GRCm39) I69M probably damaging Het
Plekhm2 T C 4: 141,356,443 (GRCm39) Y799C probably damaging Het
Pnlip T A 19: 58,669,273 (GRCm39) I424N possibly damaging Het
Prlr A G 15: 10,326,550 (GRCm39) probably benign Het
Ptprq A G 10: 107,522,247 (GRCm39) V568A probably benign Het
Rtkn A G 6: 83,125,143 (GRCm39) E201G probably damaging Het
Scg2 C T 1: 79,414,069 (GRCm39) R218H probably damaging Het
Shank2 A G 7: 143,622,535 (GRCm39) H223R possibly damaging Het
Slc23a2 A T 2: 131,913,842 (GRCm39) F312I probably damaging Het
Slc24a1 T A 9: 64,835,394 (GRCm39) E911V probably damaging Het
St8sia4 CCTCT CCT 1: 95,555,232 (GRCm39) probably null Het
Stat1 C A 1: 52,174,831 (GRCm39) Q178K probably benign Het
Stat6 A C 10: 127,483,661 (GRCm39) N75T probably benign Het
Stk10 G T 11: 32,538,915 (GRCm39) K251N Het
Sult1e1 G T 5: 87,737,973 (GRCm39) A36E probably damaging Het
Tbc1d12 A G 19: 38,899,477 (GRCm39) S466G probably benign Het
Thsd4 C A 9: 59,964,230 (GRCm39) A421S probably benign Het
Tsga10 T A 1: 37,873,364 (GRCm39) I172L probably benign Het
Ttn A T 2: 76,600,856 (GRCm39) M18842K probably benign Het
Ttpal T G 2: 163,449,105 (GRCm39) probably benign Het
Twf2 A G 9: 106,088,999 (GRCm39) D62G probably benign Het
Ube3d C A 9: 86,254,501 (GRCm39) V327F probably damaging Het
Ugt1a8 T C 1: 88,015,706 (GRCm39) S40P probably benign Het
Unc13c A T 9: 73,424,553 (GRCm39) I2021N possibly damaging Het
Vmn2r97 A T 17: 19,167,849 (GRCm39) Y701F probably benign 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
R2910:Car15 UTSW 16 17,656,006 (GRCm39) unclassified probably benign
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
X0026:Car15 UTSW 16 17,653,396 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- AGGATTCTCTACCCGCCATC -3'
(R):5'- TGAAAACACCGTACCCATTGG -3'

Sequencing Primer
(F):5'- ATCCCCTTGACCACTAGGCATG -3'
(R):5'- TGGGAGTCACTGCCATTCC -3'
Posted On 2022-03-25