Incidental Mutation 'R5463:Calb1'
ID 433090
Institutional Source Beutler Lab
Gene Symbol Calb1
Ensembl Gene ENSMUSG00000028222
Gene Name calbindin 1
Synonyms Brain-2, calbindin-D (28k), CB, CalbindinD28K, calbindin, Calb, Calb-1
MMRRC Submission 043025-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.502) question?
Stock # R5463 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 15881264-15906709 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 15885656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 76 (V76L)
Ref Sequence ENSEMBL: ENSMUSP00000029876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029876]
AlphaFold P12658
Predicted Effect probably benign
Transcript: ENSMUST00000029876
AA Change: V76L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029876
Gene: ENSMUSG00000028222
AA Change: V76L

EFh 15 43 2.37e-3 SMART
EFh 102 130 4.32e-6 SMART
EFh 146 174 2.87e0 SMART
EFh 190 218 2.7e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136266
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141336
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the calcium-binding protein superfamily that includes calmodulin and troponin C. Originally described as a 27 kDa protein, it is now known to be a 28 kDa protein. It contains four active calcium-binding domains, and has two modified domains that are thought to have lost their calcium binding capability. This protein is thought to buffer entry of calcium upon stimulation of glutamate receptors. Depletion of this protein was noted in patients with Huntington disease. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygous targeted mutants show severely impairment in motor coordination and Purkinje cells in the cerebellum show changes of synaptically evoked postsynaptic calcium transients. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik A C 10: 115,406,104 (GRCm39) probably benign Het
Arhgap29 T A 3: 121,782,200 (GRCm39) S71T possibly damaging Het
BC048507 T C 13: 68,011,817 (GRCm39) Y65H probably damaging Het
C3 T C 17: 57,518,720 (GRCm39) E1221G probably benign Het
Crybg1 T A 10: 43,879,689 (GRCm39) K500* probably null Het
Csmd1 G A 8: 16,034,860 (GRCm39) T2437I probably benign Het
Cyp27b1 G A 10: 126,887,966 (GRCm39) V493I possibly damaging Het
Cyp3a44 T A 5: 145,740,554 (GRCm39) T29S probably benign Het
Dclk3 T C 9: 111,298,328 (GRCm39) V624A probably benign Het
Dnah6 T C 6: 73,069,140 (GRCm39) I2464V probably benign Het
Dock6 A T 9: 21,721,254 (GRCm39) probably null Het
Erap1 C T 13: 74,794,533 (GRCm39) T64I probably damaging Het
Erbb3 A T 10: 128,405,948 (GRCm39) Y1156* probably null Het
Fam168a G A 7: 100,484,602 (GRCm39) A231T probably benign Het
Farp1 C T 14: 121,472,489 (GRCm39) P208L probably damaging Het
Fbxo30 T C 10: 11,166,813 (GRCm39) Y512H probably damaging Het
Gcnt2 A T 13: 41,071,650 (GRCm39) I98F possibly damaging Het
Got1 G A 19: 43,493,036 (GRCm39) T295I probably benign Het
Herc2 A G 7: 55,844,010 (GRCm39) E3538G probably damaging Het
Kcnmb4 A T 10: 116,309,410 (GRCm39) V6E probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Letmd1 C T 15: 100,367,009 (GRCm39) A2V probably damaging Het
Lynx1 G T 15: 74,623,462 (GRCm39) Y28* probably null Het
Mast1 T C 8: 85,652,136 (GRCm39) E304G probably damaging Het
Nipa1 G A 7: 55,629,205 (GRCm39) Q303* probably null Het
Nomo1 G A 7: 45,712,426 (GRCm39) R657H possibly damaging Het
Or51b4 C T 7: 103,530,541 (GRCm39) R303H probably benign Het
Pcdha7 T A 18: 37,108,628 (GRCm39) L551Q probably damaging Het
Pik3r4 T C 9: 105,525,930 (GRCm39) Y267H probably damaging Het
Pnliprp1 A G 19: 58,723,168 (GRCm39) D223G probably damaging Het
Prph G A 15: 98,953,281 (GRCm39) G65D probably benign Het
Pskh1 T C 8: 106,639,464 (GRCm39) L48P probably benign Het
Ptdss1 C A 13: 67,093,365 (GRCm39) N68K probably damaging Het
Rexo5 G A 7: 119,433,526 (GRCm39) G495R probably damaging Het
Ryr1 C A 7: 28,723,448 (GRCm39) A4204S possibly damaging Het
Serpinb9 G A 13: 33,199,659 (GRCm39) S318N probably damaging Het
Slc22a8 G A 19: 8,586,638 (GRCm39) R383H probably benign Het
Trim26 A G 17: 37,162,016 (GRCm39) H145R probably damaging Het
Trps1 A T 15: 50,695,286 (GRCm39) Y286* probably null Het
Vmn1r181 A G 7: 23,683,787 (GRCm39) N84S probably benign Het
Wdfy4 G T 14: 32,873,689 (GRCm39) Q207K probably benign Het
Whrn G A 4: 63,351,053 (GRCm39) T427I probably benign Het
Other mutations in Calb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01464:Calb1 APN 4 15,881,485 (GRCm39) splice site probably benign
IGL02900:Calb1 APN 4 15,895,695 (GRCm39) splice site probably benign
PIT4531001:Calb1 UTSW 4 15,900,925 (GRCm39) missense probably damaging 1.00
R0736:Calb1 UTSW 4 15,898,917 (GRCm39) missense probably benign 0.43
R1553:Calb1 UTSW 4 15,895,656 (GRCm39) missense probably damaging 1.00
R2926:Calb1 UTSW 4 15,904,302 (GRCm39) missense probably damaging 1.00
R4623:Calb1 UTSW 4 15,895,721 (GRCm39) intron probably benign
R5586:Calb1 UTSW 4 15,900,811 (GRCm39) missense probably benign 0.00
R6630:Calb1 UTSW 4 15,885,637 (GRCm39) missense probably benign
R8105:Calb1 UTSW 4 15,900,767 (GRCm39) critical splice acceptor site probably null
R8254:Calb1 UTSW 4 15,898,926 (GRCm39) missense probably benign
R9480:Calb1 UTSW 4 15,885,608 (GRCm39) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-10-06