Incidental Mutation 'R6870:Calm3'
ID 536136
Institutional Source Beutler Lab
Gene Symbol Calm3
Ensembl Gene ENSMUSG00000019370
Gene Name calmodulin 3
Synonyms
MMRRC Submission 044967-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.403) question?
Stock # R6870 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 16649304-16657957 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16653568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 9 (Q9L)
Ref Sequence ENSEMBL: ENSMUSP00000019514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019514] [ENSMUST00000172594]
AlphaFold no structure available at present
PDB Structure 3-D structure of Myosin-V inhibited state [ELECTRON CRYSTALLOGRAPHY]
Structure of apo-calmodulin bound to unconventional myosin V [X-RAY DIFFRACTION]
Crystal Structure of Nav1.6 IQ motif in complex with apo-CaM [X-RAY DIFFRACTION]
Calmodulin and Ng peptide complex [X-RAY DIFFRACTION]
Calmodulin and Nm peptide complex [X-RAY DIFFRACTION]
A novel conformation of calmodulin [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000019514
AA Change: Q9L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000019514
Gene: ENSMUSG00000019370
AA Change: Q9L

DomainStartEndE-ValueType
EFh 12 40 6.39e-9 SMART
EFh 48 76 5.19e-9 SMART
EFh 85 113 3.67e-9 SMART
EFh 121 149 1.13e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172594
Predicted Effect probably benign
Transcript: ENSMUST00000173139
SMART Domains Protein: ENSMUSP00000134395
Gene: ENSMUSG00000019370

DomainStartEndE-ValueType
PDB:1YRU|B 2 32 2e-15 PDB
SCOP:d2mysb_ 2 32 2e-9 SMART
Meta Mutation Damage Score 0.1034 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 72% (39/54)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,020,608 (GRCm39) Y62C probably benign Het
A1bg T C 15: 60,791,564 (GRCm39) T291A probably damaging Het
Abcb11 A G 2: 69,115,642 (GRCm39) I574T possibly damaging Het
Abcb5 T A 12: 118,929,000 (GRCm39) Y17F possibly damaging Het
Arfgef3 A T 10: 18,522,478 (GRCm39) L516* probably null Het
Arhgap21 A G 2: 20,885,321 (GRCm39) S619P probably damaging Het
Atp2c1 A G 9: 105,347,261 (GRCm39) V65A probably benign Het
Cd300c2 C T 11: 114,891,503 (GRCm39) D124N probably damaging Het
Celsr3 A G 9: 108,706,390 (GRCm39) T958A probably benign Het
Cemip2 T C 19: 21,809,487 (GRCm39) S956P possibly damaging Het
Cfap69 T C 5: 5,671,958 (GRCm39) T317A probably benign Het
Cluh T A 11: 74,556,210 (GRCm39) I887K probably damaging Het
Dag1 A T 9: 108,086,457 (GRCm39) V228E probably damaging Het
Dhtkd1 T C 2: 5,924,248 (GRCm39) probably null Het
Dnah1 T A 14: 30,993,018 (GRCm39) K2959* probably null Het
Dnttip2 T A 3: 122,069,457 (GRCm39) V224E probably damaging Het
Drosha C T 15: 12,907,479 (GRCm39) P1071L probably benign Het
E030025P04Rik T A 11: 109,030,993 (GRCm39) H84L unknown Het
Elac2 A T 11: 64,890,589 (GRCm39) S698C probably null Het
Elf2 A T 3: 51,201,586 (GRCm39) *88R probably null Het
Fastkd1 T A 2: 69,538,958 (GRCm39) I143L probably benign Het
Fbxw10 C T 11: 62,746,193 (GRCm39) R366C probably damaging Het
Frg2f1 T C 4: 119,388,329 (GRCm39) M57V probably benign Het
Gbp4 T C 5: 105,273,444 (GRCm39) S129G probably damaging Het
Gnat2 A C 3: 108,002,947 (GRCm39) probably benign Het
Golgb1 C A 16: 36,738,565 (GRCm39) F2301L probably damaging Het
Il18bp T C 7: 101,666,518 (GRCm39) T2A possibly damaging Het
Kpna2 T C 11: 106,883,520 (GRCm39) probably null Het
Lrrfip2 A T 9: 111,045,187 (GRCm39) probably benign Het
Map4k1 T G 7: 28,701,096 (GRCm39) probably null Het
Mcm3ap T C 10: 76,306,049 (GRCm39) V54A probably benign Het
Nup133 A G 8: 124,626,246 (GRCm39) I1112T probably benign Het
Or8b1 A C 9: 38,399,382 (GRCm39) D19A probably benign Het
Pcdhac1 T A 18: 37,225,140 (GRCm39) V651D probably damaging Het
Pde10a A G 17: 9,186,356 (GRCm39) T571A possibly damaging Het
Phc3 A G 3: 30,990,910 (GRCm39) S403P probably damaging Het
Prl7b1 T C 13: 27,788,516 (GRCm39) E113G probably damaging Het
Psmd2 T G 16: 20,480,593 (GRCm39) M744R probably benign Het
Qrich2 T C 11: 116,346,156 (GRCm39) D1556G probably damaging Het
Septin1 C T 7: 126,816,876 (GRCm39) V46M probably benign Het
Shank2 C A 7: 143,606,197 (GRCm39) Q127K probably damaging Het
Siah1a A G 8: 87,451,653 (GRCm39) V277A possibly damaging Het
Slc4a7 T A 14: 14,733,846 (GRCm38) D85E probably damaging Het
Slc5a12 A T 2: 110,472,155 (GRCm39) I526F probably damaging Het
Svil T C 18: 5,063,231 (GRCm39) V834A possibly damaging Het
Sycp1 T A 3: 102,842,919 (GRCm39) S17C probably damaging Het
Tssk6 G A 8: 70,355,673 (GRCm39) R239Q probably benign Het
Txnrd1 A G 10: 82,709,042 (GRCm39) D80G probably benign Het
Tyk2 A G 9: 21,036,250 (GRCm39) F79S probably damaging Het
Tyrp1 T C 4: 80,769,014 (GRCm39) S503P probably benign Het
Upf1 A T 8: 70,794,211 (GRCm39) C232S probably benign Het
Zeb2 G A 2: 44,878,922 (GRCm39) T1080I probably damaging Het
Other mutations in Calm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:Calm3 APN 7 16,651,409 (GRCm39) missense probably benign 0.00
R5167:Calm3 UTSW 7 16,651,626 (GRCm39) missense probably damaging 1.00
R5462:Calm3 UTSW 7 16,651,619 (GRCm39) missense possibly damaging 0.93
R6615:Calm3 UTSW 7 16,651,508 (GRCm39) critical splice donor site probably null
R7090:Calm3 UTSW 7 16,651,004 (GRCm39) nonsense probably null
R8429:Calm3 UTSW 7 16,653,592 (GRCm39) critical splice acceptor site probably null
R8931:Calm3 UTSW 7 16,651,398 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATAGAGGTCCATTTCAAGGCC -3'
(R):5'- TGGCTCTATGACGCGATCTG -3'

Sequencing Primer
(F):5'- TTTCAAGGCCCCAAGTGAGCTATAG -3'
(R):5'- ATGACGCGATCTGCCCTTG -3'
Posted On 2018-10-18