Incidental Mutation 'IGL02349:Capns2'
ID289424
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capns2
Ensembl Gene ENSMUSG00000078144
Gene Namecalpain, small subunit 2
Synonyms30K-2, 2310005G05Rik
Accession Numbers

NCBI RefSeq: NM_027112.1; MGI:1916793

Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #IGL02349
Quality Score
Status
Chromosome8
Chromosomal Location92901407-92902411 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 92902062 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 193 (V193D)
Ref Sequence ENSEMBL: ENSMUSP00000100553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046290] [ENSMUST00000104947] [ENSMUST00000209265] [ENSMUST00000210099]
Predicted Effect probably benign
Transcript: ENSMUST00000046290
SMART Domains Protein: ENSMUSP00000049252
Gene: ENSMUSG00000033192

DomainStartEndE-ValueType
low complexity region 5 12 N/A INTRINSIC
low complexity region 35 45 N/A INTRINSIC
transmembrane domain 59 81 N/A INTRINSIC
PlsC 140 251 2.78e-22 SMART
Blast:PlsC 284 326 3e-19 BLAST
EFh 395 423 4.49e-4 SMART
EFh 432 460 6.11e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000104947
AA Change: V193D

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000100553
Gene: ENSMUSG00000078144
AA Change: V193D

DomainStartEndE-ValueType
low complexity region 14 43 N/A INTRINSIC
low complexity region 68 77 N/A INTRINSIC
EFh 122 150 5.69e0 SMART
EFh 152 180 1.3e1 SMART
EFh 217 244 9.89e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151106
Predicted Effect probably benign
Transcript: ENSMUST00000209265
Predicted Effect probably benign
Transcript: ENSMUST00000210099
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 A G 5: 24,406,464 I484V probably benign Het
Acly C T 11: 100,519,679 E158K probably benign Het
Akap3 T A 6: 126,860,263 D3E probably benign Het
Alg8 A G 7: 97,379,894 N152S possibly damaging Het
Ano7 A G 1: 93,391,490 T323A probably benign Het
Bmp1 T C 14: 70,507,549 Y252C possibly damaging Het
Cacnb3 A T 15: 98,640,961 K159* probably null Het
Cct2 A G 10: 117,053,139 I48T probably benign Het
Cep152 A G 2: 125,594,956 S555P probably damaging Het
Col5a3 T C 9: 20,772,361 E1533G unknown Het
Cyp17a1 A G 19: 46,667,497 L451P probably damaging Het
D1Ertd622e A G 1: 97,646,052 L96P probably damaging Het
Dgcr8 T C 16: 18,280,306 E407G possibly damaging Het
Dhx57 T A 17: 80,255,571 N876Y probably damaging Het
Dnah7b T A 1: 46,099,503 L235* probably null Het
Fgfr2 A G 7: 130,242,606 Y50H probably damaging Het
Gars T A 6: 55,048,064 probably benign Het
Gfpt2 A T 11: 49,807,703 I42F probably benign Het
Glcci1 A G 6: 8,558,581 K35E probably damaging Het
Gpatch1 T A 7: 35,307,255 M163L probably damaging Het
Gpr132 T C 12: 112,852,855 Y117C probably damaging Het
Ints1 G A 5: 139,768,468 P650S probably damaging Het
Itga2b T C 11: 102,461,363 D464G probably damaging Het
Kansl2 C A 15: 98,529,446 G185C probably damaging Het
Kat6b T A 14: 21,637,593 M570K probably damaging Het
Map3k19 T A 1: 127,823,769 D615V possibly damaging Het
Map3k7cl A G 16: 87,556,013 probably benign Het
Msto1 A C 3: 88,910,898 S360R possibly damaging Het
Myo15b C A 11: 115,863,105 probably benign Het
Nhlrc2 T C 19: 56,591,719 V428A possibly damaging Het
Olfr33 G A 7: 102,714,126 R96C probably damaging Het
Olfr348 A C 2: 36,787,046 T174P possibly damaging Het
Olfr470 A G 7: 107,845,605 S43P probably benign Het
Olfr568 A T 7: 102,877,909 Y263F probably benign Het
Olfr61 T C 7: 140,638,471 F257L probably benign Het
Olfr874 T A 9: 37,746,206 M24K probably benign Het
Pcm1 G T 8: 41,288,155 probably null Het
Plekhg3 A T 12: 76,562,300 N149I probably damaging Het
Rbp3 C A 14: 33,955,719 H541Q probably damaging Het
Rgp1 T C 4: 43,581,236 probably null Het
Scyl2 A T 10: 89,657,938 probably benign Het
Tas2r144 A C 6: 42,216,076 H250P probably benign Het
Tmppe T C 9: 114,405,200 V189A probably benign Het
Trp53bp1 G A 2: 121,199,074 S1875L probably damaging Het
Txnl4a T A 18: 80,218,729 L60H probably damaging Het
Upp2 A G 2: 58,777,886 D217G probably benign Het
Vmn2r74 A G 7: 85,952,516 L638P probably damaging Het
Vnn1 A G 10: 23,898,503 N148S possibly damaging Het
Xrcc1 C T 7: 24,567,042 Q241* probably null Het
Zfp990 A G 4: 145,530,877 probably benign Het
Other mutations in Capns2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01104:Capns2 APN 8 92901755 missense probably damaging 1.00
IGL01567:Capns2 APN 8 92902006 missense probably benign 0.01
IGL02377:Capns2 APN 8 92901587 missense probably benign 0.15
IGL03244:Capns2 APN 8 92902110 missense probably damaging 1.00
P0014:Capns2 UTSW 8 92902214 missense probably damaging 1.00
R0539:Capns2 UTSW 8 92901732 missense possibly damaging 0.78
R1560:Capns2 UTSW 8 92902143 missense probably damaging 1.00
R4422:Capns2 UTSW 8 92901624 missense possibly damaging 0.95
R4423:Capns2 UTSW 8 92901624 missense possibly damaging 0.95
R4425:Capns2 UTSW 8 92901624 missense possibly damaging 0.95
R4983:Capns2 UTSW 8 92901902 missense probably damaging 1.00
R6898:Capns2 UTSW 8 92901977 missense probably damaging 1.00
Posted On2015-04-16