Incidental Mutation 'R1524:Capn12'
ID 167709
Institutional Source Beutler Lab
Gene Symbol Capn12
Ensembl Gene ENSMUSG00000054083
Gene Name calpain 12
Synonyms
MMRRC Submission 039565-MU
Accession Numbers

Ncbi RefSeq: NM_001110807.1; MGI: 1891369
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1524 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 28881422-28893563 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 28882764 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000069055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066880]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000066880
SMART Domains Protein: ENSMUSP00000069055
Gene: ENSMUSG00000054083

DomainStartEndE-ValueType
CysPc 27 349 7.8e-139 SMART
calpain_III 353 529 7.47e-72 SMART
SCOP:d1alva_ 552 720 3e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208228
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 97% (68/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]
Allele List at MGI

All alleles(1) : Targeted(1)
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik G T 5: 87,971,689 V102L probably benign Het
Adck1 T C 12: 88,402,084 Y111H probably damaging Het
Adcy10 G T 1: 165,518,403 K340N probably damaging Het
Aebp1 T C 11: 5,870,089 V355A probably damaging Het
Atp2b2 T C 6: 113,774,201 probably benign Het
Atrn T C 2: 130,957,080 V390A probably benign Het
Bpifc T A 10: 85,977,735 Q315L probably benign Het
C1qtnf6 T G 15: 78,524,892 probably null Het
Cab39l A G 14: 59,519,737 probably benign Het
Ceacam18 A C 7: 43,639,355 T177P possibly damaging Het
Ces5a A T 8: 93,525,665 F200I probably damaging Het
Cldn19 G T 4: 119,257,051 probably null Het
Cntnap2 A G 6: 46,530,679 S46P probably damaging Het
Dchs1 A G 7: 105,764,525 Y1028H probably damaging Het
Exd1 A T 2: 119,524,674 F253L probably damaging Het
Fam161a A G 11: 23,015,826 N40D possibly damaging Het
Fam81a A T 9: 70,125,108 I34N probably damaging Het
Fchsd1 A C 18: 37,965,897 probably null Het
Fut11 T A 14: 20,696,166 F359I possibly damaging Het
Fut7 T C 2: 25,425,147 V92A probably damaging Het
Grid2 C G 6: 64,429,754 F699L possibly damaging Het
Grin2a A G 16: 9,663,603 S445P possibly damaging Het
H2al2b A C Y: 2,720,391 F95C probably damaging Het
Hecw2 T C 1: 53,851,618 D1246G probably damaging Het
Ifit1 A G 19: 34,647,632 N56S probably damaging Het
Ldb3 C A 14: 34,555,356 V354L probably benign Het
Lrig2 T C 3: 104,463,876 Y479C probably benign Het
Ltn1 A G 16: 87,381,556 V1595A probably damaging Het
Macf1 A G 4: 123,432,530 V2939A possibly damaging Het
Mapre3 T G 5: 30,861,917 I35S probably damaging Het
Med16 A T 10: 79,898,316 L588Q probably damaging Het
Ncapg2 T C 12: 116,434,578 probably benign Het
Ncstn C A 1: 172,072,149 R322L possibly damaging Het
Ndst1 A T 18: 60,698,504 I594N probably damaging Het
Ndst3 A G 3: 123,548,906 I752T possibly damaging Het
Obscn G T 11: 59,115,855 S1185R probably damaging Het
Olfr1466 T A 19: 13,342,122 C121* probably null Het
Olfr1500 A T 19: 13,828,315 L27H probably damaging Het
Olfr303 A G 7: 86,394,812 S229P probably benign Het
Otof T A 5: 30,379,556 D1285V probably benign Het
Pcnx2 A G 8: 125,891,141 I125T probably benign Het
Pde4a T C 9: 21,201,247 S240P probably damaging Het
Pi15 T C 1: 17,619,852 S126P probably benign Het
Pkhd1 T C 1: 20,117,780 S3435G probably damaging Het
Plin1 C A 7: 79,726,590 V133L probably benign Het
Pnpt1 T A 11: 29,130,776 C7S unknown Het
Ppp3ca A T 3: 136,797,818 M51L probably benign Het
Primpol G T 8: 46,586,467 probably benign Het
Prlr T C 15: 10,319,333 V116A probably damaging Het
Rnf139 A G 15: 58,889,417 D35G probably damaging Het
Rsbn1l T A 5: 20,951,673 K38M probably damaging Het
Ryr3 T A 2: 112,869,082 I888F probably damaging Het
Sec16a C A 2: 26,428,382 V1566F probably damaging Het
Sin3b A G 8: 72,753,287 T874A probably benign Het
Slc5a5 A C 8: 70,892,334 Y110D probably damaging Het
Smarcd2 C T 11: 106,267,152 V97I probably benign Het
St6galnac2 G A 11: 116,684,487 probably benign Het
Tbc1d22b T C 17: 29,570,611 L149P probably damaging Het
Tekt2 T C 4: 126,323,649 I208V probably benign Het
Tenm3 A G 8: 48,228,981 I2522T possibly damaging Het
Ttc37 T A 13: 76,138,372 D891E probably benign Het
Ttll5 T A 12: 85,864,568 Y233* probably null Het
Vcpip1 C T 1: 9,724,502 E1215K probably damaging Het
Wdr4 T C 17: 31,509,763 probably benign Het
Zadh2 A G 18: 84,094,706 E169G probably benign Het
Zfp703 G A 8: 26,979,373 G355D probably damaging Het
Zfp830 T A 11: 82,764,968 D199E probably damaging Het
Other mutations in Capn12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01717:Capn12 APN 7 28889105 missense probably benign
IGL01758:Capn12 APN 7 28886623 splice site probably null
IGL02381:Capn12 APN 7 28886455 splice site probably benign
IGL02863:Capn12 APN 7 28883156 missense probably damaging 1.00
IGL03237:Capn12 APN 7 28890941 missense probably damaging 1.00
PIT4418001:Capn12 UTSW 7 28886536 missense probably benign 0.06
R0027:Capn12 UTSW 7 28881960 missense probably benign 0.01
R0047:Capn12 UTSW 7 28890387 critical splice donor site probably null
R0047:Capn12 UTSW 7 28890387 critical splice donor site probably null
R0070:Capn12 UTSW 7 28889126 unclassified probably benign
R0070:Capn12 UTSW 7 28889126 unclassified probably benign
R0533:Capn12 UTSW 7 28887683 missense possibly damaging 0.48
R0932:Capn12 UTSW 7 28887698 missense possibly damaging 0.91
R4758:Capn12 UTSW 7 28892723 missense possibly damaging 0.66
R4793:Capn12 UTSW 7 28892669 missense probably benign 0.23
R4983:Capn12 UTSW 7 28890370 missense probably benign 0.00
R5560:Capn12 UTSW 7 28882860 missense probably benign 0.01
R5835:Capn12 UTSW 7 28881958 missense probably benign 0.05
R5886:Capn12 UTSW 7 28887605 missense probably benign 0.01
R6247:Capn12 UTSW 7 28888652 missense probably benign 0.05
R6441:Capn12 UTSW 7 28888002 missense probably benign 0.00
R7136:Capn12 UTSW 7 28883107 splice site probably null
R7757:Capn12 UTSW 7 28882821 missense probably damaging 1.00
R8329:Capn12 UTSW 7 28883201 missense probably damaging 1.00
R8888:Capn12 UTSW 7 28886524 splice site probably benign
R8924:Capn12 UTSW 7 28883203 missense probably damaging 1.00
R9150:Capn12 UTSW 7 28890953 missense probably benign 0.11
R9209:Capn12 UTSW 7 28881818 missense probably damaging 1.00
Z1177:Capn12 UTSW 7 28887828 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATGAGCAGAACAGATGTGTGCC -3'
(R):5'- GCCAAACTGCCATAGCTGGTGAAG -3'

Sequencing Primer
(F):5'- ATGTGTGCCAGGGAAGC -3'
(R):5'- acaaaacaaaacaaaacaaaacaCAG -3'
Posted On 2014-04-13