Incidental Mutation 'R1350:Capn15'
ID 159548
Institutional Source Beutler Lab
Gene Symbol Capn15
Ensembl Gene ENSMUSG00000037326
Gene Name calpain 15
Synonyms Solh
MMRRC Submission 039415-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.244) question?
Stock # R1350 (G1)
Quality Score 143
Status Validated
Chromosome 17
Chromosomal Location 26177338-26204753 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26183666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 338 (S338P)
Ref Sequence ENSEMBL: ENSMUSP00000148486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041641] [ENSMUST00000181174] [ENSMUST00000212099] [ENSMUST00000212149] [ENSMUST00000212520] [ENSMUST00000212789]
AlphaFold Q9JLG8
Predicted Effect probably benign
Transcript: ENSMUST00000041641
AA Change: S272P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039528
Gene: ENSMUSG00000037326
AA Change: S272P

DomainStartEndE-ValueType
ZnF_RBZ 5 29 8.92e-8 SMART
ZnF_RBZ 46 70 3.46e-5 SMART
low complexity region 117 150 N/A INTRINSIC
ZnF_RBZ 151 175 2.28e-5 SMART
low complexity region 184 196 N/A INTRINSIC
low complexity region 258 271 N/A INTRINSIC
low complexity region 280 301 N/A INTRINSIC
low complexity region 310 322 N/A INTRINSIC
ZnF_RBZ 352 376 1.21e-4 SMART
ZnF_RBZ 424 448 4.78e-8 SMART
CysPc 479 811 6.54e-132 SMART
low complexity region 868 879 N/A INTRINSIC
low complexity region 913 930 N/A INTRINSIC
low complexity region 972 981 N/A INTRINSIC
Blast:CysPc 982 1028 9e-21 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180868
Predicted Effect probably benign
Transcript: ENSMUST00000181174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211917
Predicted Effect probably benign
Transcript: ENSMUST00000212099
AA Change: S272P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000212149
AA Change: S272P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000212520
AA Change: S338P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000212789
AA Change: S272P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212735
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 88.1%
Validation Efficiency 95% (57/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-protein interactions during visual system development. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago4 A G 4: 126,400,925 (GRCm39) V640A probably benign Het
AI661453 C T 17: 47,778,853 (GRCm39) Q860* probably null Het
Atp10d A G 5: 72,418,469 (GRCm39) probably benign Het
Axdnd1 A G 1: 156,205,950 (GRCm39) probably null Het
Bivm T A 1: 44,165,863 (GRCm39) N104K possibly damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ccn6 C T 10: 39,034,302 (GRCm39) C100Y probably damaging Het
Col13a1 G A 10: 61,729,848 (GRCm39) probably benign Het
Crb2 A G 2: 37,682,081 (GRCm39) N821D probably damaging Het
D5Ertd579e T A 5: 36,771,081 (GRCm39) I1105F probably damaging Het
Dnaja2 A T 8: 86,266,717 (GRCm39) F337I probably damaging Het
Dntt C T 19: 41,025,578 (GRCm39) probably benign Het
Dock3 C T 9: 106,791,831 (GRCm39) E1381K possibly damaging Het
Fibp T C 19: 5,511,419 (GRCm39) Y96H probably damaging Het
Garnl3 A G 2: 32,942,226 (GRCm39) V85A probably damaging Het
Gsdme A T 6: 50,223,108 (GRCm39) probably null Het
Gucy2c A T 6: 136,720,912 (GRCm39) probably null Het
Hectd1 A G 12: 51,809,217 (GRCm39) V1748A probably benign Het
Hepacam2 G A 6: 3,467,530 (GRCm39) Q384* probably null Het
Itga10 T A 3: 96,564,793 (GRCm39) M961K probably benign Het
Kcnk1 C T 8: 126,751,967 (GRCm39) T191I probably benign Het
Khdrbs1 G A 4: 129,614,545 (GRCm39) P336L probably benign Het
Klhdc2 T A 12: 69,352,484 (GRCm39) probably null Het
Lipc T C 9: 70,705,649 (GRCm39) H478R probably benign Het
Lrp12 A T 15: 39,741,646 (GRCm39) C356* probably null Het
Nf1 T A 11: 79,303,513 (GRCm39) C397S probably damaging Het
Nox3 A G 17: 3,700,396 (GRCm39) F439S probably damaging Het
Or12e9 T A 2: 87,202,701 (GRCm39) V275E probably benign Het
Or13a18 T C 7: 140,190,622 (GRCm39) V181A probably damaging Het
Or3a1b T C 11: 74,013,039 (GRCm39) L308P possibly damaging Het
Or4b12 A T 2: 90,096,690 (GRCm39) L28Q probably damaging Het
Or51b17 A G 7: 103,542,937 (GRCm39) W2R probably benign Het
Or7g29 T G 9: 19,286,710 (GRCm39) S156R possibly damaging Het
Or8b37 G A 9: 37,959,111 (GRCm39) V198I probably benign Het
Pcif1 T C 2: 164,728,687 (GRCm39) F288L probably damaging Het
Prxl2b C A 4: 154,982,585 (GRCm39) R107L probably damaging Het
Skint7 G T 4: 111,837,521 (GRCm39) A100S possibly damaging Het
Ssu2 A T 6: 112,351,807 (GRCm39) L306* probably null Het
Tasp1 T C 2: 139,899,341 (GRCm39) E4G probably damaging Het
Tfb1m A T 17: 3,595,955 (GRCm39) D99E probably benign Het
Ube3b A G 5: 114,544,198 (GRCm39) probably null Het
Uox A G 3: 146,330,330 (GRCm39) D162G probably damaging Het
Usp18 A G 6: 121,239,651 (GRCm39) T249A possibly damaging Het
Vmn1r202 T C 13: 22,685,886 (GRCm39) N177S probably benign Het
Vwa2 T A 19: 56,897,558 (GRCm39) M621K probably damaging Het
Wdfy3 C A 5: 102,046,418 (GRCm39) D1797Y probably damaging Het
Ylpm1 A T 12: 85,060,856 (GRCm39) probably benign Het
Zbtb9 G A 17: 27,193,380 (GRCm39) V262I probably benign Het
Other mutations in Capn15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01145:Capn15 APN 17 26,182,024 (GRCm39) missense probably damaging 1.00
IGL01568:Capn15 APN 17 26,184,419 (GRCm39) missense probably damaging 0.99
IGL01724:Capn15 APN 17 26,181,037 (GRCm39) missense probably damaging 1.00
IGL01934:Capn15 APN 17 26,181,998 (GRCm39) missense probably damaging 1.00
IGL02700:Capn15 APN 17 26,181,982 (GRCm39) missense probably damaging 1.00
IGL03274:Capn15 APN 17 26,180,812 (GRCm39) missense probably damaging 1.00
ANU74:Capn15 UTSW 17 26,184,460 (GRCm39) nonsense probably null
R1491:Capn15 UTSW 17 26,183,453 (GRCm39) missense probably damaging 1.00
R1632:Capn15 UTSW 17 26,179,639 (GRCm39) missense probably damaging 0.99
R1696:Capn15 UTSW 17 26,183,878 (GRCm39) missense probably benign 0.01
R1871:Capn15 UTSW 17 26,183,203 (GRCm39) missense probably damaging 1.00
R1914:Capn15 UTSW 17 26,183,837 (GRCm39) missense probably benign 0.03
R2295:Capn15 UTSW 17 26,183,555 (GRCm39) nonsense probably null
R4579:Capn15 UTSW 17 26,178,811 (GRCm39) missense probably damaging 0.99
R4658:Capn15 UTSW 17 26,179,742 (GRCm39) missense probably benign 0.11
R5790:Capn15 UTSW 17 26,183,521 (GRCm39) missense probably benign 0.08
R6455:Capn15 UTSW 17 26,184,410 (GRCm39) missense probably damaging 1.00
R6639:Capn15 UTSW 17 26,179,152 (GRCm39) missense probably benign 0.00
R6882:Capn15 UTSW 17 26,179,153 (GRCm39) splice site probably null
R7052:Capn15 UTSW 17 26,180,724 (GRCm39) missense probably damaging 1.00
R7157:Capn15 UTSW 17 26,184,228 (GRCm39) missense probably damaging 1.00
R7287:Capn15 UTSW 17 26,179,429 (GRCm39) missense probably damaging 1.00
R7553:Capn15 UTSW 17 26,179,738 (GRCm39) missense probably damaging 0.96
R7555:Capn15 UTSW 17 26,182,406 (GRCm39) missense probably damaging 1.00
R7706:Capn15 UTSW 17 26,183,125 (GRCm39) missense probably benign 0.00
R8998:Capn15 UTSW 17 26,182,055 (GRCm39) missense probably damaging 1.00
R9099:Capn15 UTSW 17 26,192,141 (GRCm39) missense probably benign 0.34
R9487:Capn15 UTSW 17 26,184,353 (GRCm39) missense possibly damaging 0.89
R9631:Capn15 UTSW 17 26,182,409 (GRCm39) missense probably damaging 1.00
Z1088:Capn15 UTSW 17 26,182,321 (GRCm39) missense probably damaging 1.00
Z1177:Capn15 UTSW 17 26,192,194 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- AAACCATGCAGCTTGGAGCCAC -3'
(R):5'- CGGAAACTGTCATTGCCTCGCATC -3'

Sequencing Primer
(F):5'- ATGTCCCCAGCTAGGTCAATG -3'
(R):5'- AGAAGCCCTGGTGGTTCC -3'
Posted On 2014-03-14