Incidental Mutation 'R7052:Capn15'
ID 547684
Institutional Source Beutler Lab
Gene Symbol Capn15
Ensembl Gene ENSMUSG00000037326
Gene Name calpain 15
Synonyms Solh
MMRRC Submission 045149-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.285) question?
Stock # R7052 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 26177338-26204753 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26180724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 782 (V782D)
Ref Sequence ENSEMBL: ENSMUSP00000148393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041641] [ENSMUST00000181174] [ENSMUST00000212099] [ENSMUST00000212149] [ENSMUST00000212520] [ENSMUST00000212789]
AlphaFold Q9JLG8
Predicted Effect probably damaging
Transcript: ENSMUST00000041641
AA Change: V782D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039528
Gene: ENSMUSG00000037326
AA Change: V782D

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 probably benign
Transcript: ENSMUST00000181174
Predicted Effect probably benign
Transcript: ENSMUST00000212099
Predicted Effect probably damaging
Transcript: ENSMUST00000212149
AA Change: V782D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000212520
AA Change: V848D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000212789
AA Change: V782D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.8413 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (63/63)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C T 6: 142,604,261 (GRCm39) R658H probably benign Het
Als2cl C T 9: 110,727,151 (GRCm39) R906C probably damaging Het
Asb8 T C 15: 98,034,282 (GRCm39) H91R probably damaging Het
Atp8b3 C T 10: 80,355,858 (GRCm39) E1285K probably benign Het
Bves G A 10: 45,222,386 (GRCm39) R172H possibly damaging Het
C6 A T 15: 4,763,177 (GRCm39) N59I probably damaging Het
Ccdc168 T A 1: 44,096,466 (GRCm39) Y1544F possibly damaging Het
Ccdc18 T C 5: 108,309,554 (GRCm39) L383S probably benign Het
Coro6 C A 11: 77,357,056 (GRCm39) N119K probably benign Het
Cps1 T A 1: 67,237,569 (GRCm39) D1023E probably damaging Het
Dctn1 T A 6: 83,172,262 (GRCm39) probably null Het
Ero1a T A 14: 45,544,040 (GRCm39) K55* probably null Het
Fam209 G A 2: 172,314,751 (GRCm39) G80D possibly damaging Het
Fam89b G A 19: 5,779,276 (GRCm39) R94C probably damaging Het
Fut1 A G 7: 45,269,181 (GRCm39) *323W probably null Het
Garin2 C T 12: 78,766,176 (GRCm39) T315I probably benign Het
Gm47985 T A 1: 151,058,890 (GRCm39) F177Y possibly damaging Het
Gstm7 T A 3: 107,838,633 (GRCm39) D37V probably damaging Het
H2-Aa T A 17: 34,503,484 (GRCm39) S38C possibly damaging Het
Ighg2c T C 12: 113,252,343 (GRCm39) T70A Het
Ino80 A G 2: 119,257,068 (GRCm39) probably null Het
Irf8 C T 8: 121,466,581 (GRCm39) R9W probably damaging Het
Kcnt2 A G 1: 140,310,785 (GRCm39) N197S probably damaging Het
Kif11 T A 19: 37,373,040 (GRCm39) C86* probably null Het
Lonp1 A T 17: 56,933,549 (GRCm39) F109I probably benign Het
Mlkl G A 8: 112,046,074 (GRCm39) S312L possibly damaging Het
Mroh9 T A 1: 162,866,525 (GRCm39) Q706L possibly damaging Het
Mtmr7 T C 8: 41,008,874 (GRCm39) H315R possibly damaging Het
Myh7b G C 2: 155,456,053 (GRCm39) R146P probably damaging Het
Naip5 A G 13: 100,358,855 (GRCm39) Y794H probably benign Het
Nup153 A T 13: 46,840,949 (GRCm39) N886K probably benign Het
Nup205 A G 6: 35,192,077 (GRCm39) R1047G possibly damaging Het
Oog3 A T 4: 143,887,027 (GRCm39) L31Q probably damaging Het
Or5b123 T A 19: 13,596,990 (GRCm39) S155T probably benign Het
Or6c38 T C 10: 128,929,744 (GRCm39) Y33C probably damaging Het
Palmd T C 3: 116,717,012 (GRCm39) N495S probably benign Het
Patj A G 4: 98,565,497 (GRCm39) Q1070R probably benign Het
Pax1 G A 2: 147,207,824 (GRCm39) R232H probably damaging Het
Pcdhb1 A G 18: 37,399,582 (GRCm39) N511S probably damaging Het
Pigs C T 11: 78,232,211 (GRCm39) L448F probably damaging Het
Pih1d2 A G 9: 50,533,077 (GRCm39) Y235C probably damaging Het
Pkd2l2 T A 18: 34,558,212 (GRCm39) I297K possibly damaging Het
Pou2f1 C T 1: 165,742,684 (GRCm39) V82I possibly damaging Het
Pramel1 T C 4: 143,123,074 (GRCm39) L17P probably damaging Het
Riok1 C T 13: 38,220,991 (GRCm39) probably benign Het
Scg3 C A 9: 75,568,664 (GRCm39) E358* probably null Het
Siglec15 T C 18: 78,091,946 (GRCm39) E85G probably damaging Het
Snx20 T C 8: 89,356,606 (GRCm39) H70R probably benign Het
Spi1 T A 2: 90,943,685 (GRCm39) S76R probably damaging Het
Stat5a T C 11: 100,770,111 (GRCm39) S463P probably damaging Het
Svs5 A G 2: 164,080,126 (GRCm39) I13T unknown Het
Tmem132e T C 11: 82,328,189 (GRCm39) S406P probably damaging Het
Top1mt T C 15: 75,540,560 (GRCm39) N237S possibly damaging Het
Trav6d-4 G A 14: 52,991,053 (GRCm39) V30M possibly damaging Het
Trp73 A T 4: 154,149,140 (GRCm39) M217K probably damaging Het
Vmn1r58 A G 7: 5,414,134 (GRCm39) I32T probably benign Het
Vmn1r9 T C 6: 57,048,396 (GRCm39) M157T probably benign Het
Vmn2r100 C T 17: 19,751,556 (GRCm39) S533F possibly damaging Het
Vmn2r112 T A 17: 22,821,507 (GRCm39) M160K probably benign Het
Vps13d C A 4: 144,889,914 (GRCm39) A597S probably benign Het
Zfp27 AATCCGCTTGTGCA AA 7: 29,594,446 (GRCm39) 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
R1350:Capn15 UTSW 17 26,183,666 (GRCm39) missense probably benign 0.00
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
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'- TTCTGGACACCACAAGAAGC -3'
(R):5'- ATGTTCAGGGCTCCAGGTAG -3'

Sequencing Primer
(F):5'- CAGAATGACTTACACAGAGCTCCTTG -3'
(R):5'- TCCAGGTAGGGGCCCAATTG -3'
Posted On 2019-05-13