Incidental Mutation 'R2926:Calb1'
ID 255744
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 040511-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.502) question?
Stock # R2926 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 15881264-15906709 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 15904302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 218 (L218R)
Ref Sequence ENSEMBL: ENSMUSP00000029876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029876]
AlphaFold P12658
Predicted Effect probably damaging
Transcript: ENSMUST00000029876
AA Change: L218R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029876
Gene: ENSMUSG00000028222
AA Change: L218R

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.9547 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (50/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 G T 5: 124,216,902 (GRCm39) S438R possibly damaging Het
Add3 A G 19: 53,215,253 (GRCm39) probably null Het
Adgrb2 T C 4: 129,902,137 (GRCm39) L506P probably damaging Het
Atp6v0a1 A T 11: 100,934,774 (GRCm39) I621L probably damaging Het
Ccdc162 G A 10: 41,437,203 (GRCm39) probably benign Het
Ccser2 A T 14: 36,601,518 (GRCm39) S842T possibly damaging Het
Cd300a A G 11: 114,784,139 (GRCm39) E49G possibly damaging Het
Colec11 T A 12: 28,667,428 (GRCm39) Q37L probably damaging Het
D630045J12Rik T A 6: 38,145,106 (GRCm39) I1307F probably damaging Het
Dapk1 T C 13: 60,867,564 (GRCm39) V257A possibly damaging Het
Dnah3 T A 7: 119,550,338 (GRCm39) N3327I probably damaging Het
Gja8 C T 3: 96,826,469 (GRCm39) V398I probably benign Het
Hfm1 A T 5: 107,022,148 (GRCm39) L179* probably null Het
Hsd3b9 A G 3: 98,357,872 (GRCm39) probably benign Het
Ift88 T C 14: 57,726,375 (GRCm39) Y678H probably damaging Het
Itga10 A G 3: 96,560,165 (GRCm39) N560D probably damaging Het
Itpk1 G T 12: 102,545,389 (GRCm39) P238Q probably damaging Het
Kl T C 5: 150,876,806 (GRCm39) W209R probably damaging Het
Lama4 A G 10: 38,954,828 (GRCm39) N1127S probably benign Het
Lrp1 C T 10: 127,423,982 (GRCm39) C830Y probably damaging Het
Mcmbp G A 7: 128,299,738 (GRCm39) probably benign Het
Mrps33 A G 6: 39,782,438 (GRCm39) S28P probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Myt1 C T 2: 181,467,803 (GRCm39) T1079M possibly damaging Het
N4bp1 A T 8: 87,588,424 (GRCm39) Y171* probably null Het
Ncln G T 10: 81,324,272 (GRCm39) T442K probably benign Het
Nphp4 T C 4: 152,602,596 (GRCm39) V390A probably damaging Het
Ntrk2 C A 13: 59,208,098 (GRCm39) T648K probably damaging Het
Nwd1 A G 8: 73,393,640 (GRCm39) H301R probably damaging Het
Or4k5 A T 14: 50,385,893 (GRCm39) V146E probably benign Het
Pcdh12 T C 18: 38,415,443 (GRCm39) N561D probably damaging Het
Pcnx1 T A 12: 82,041,769 (GRCm39) S2134T probably damaging Het
Ppp1cc G A 5: 122,312,151 (GRCm39) A306T probably benign Het
Pramel3e G T X: 134,400,297 (GRCm39) A96S possibly damaging Het
Prrc2c C T 1: 162,533,696 (GRCm39) probably benign Het
Rabggta C T 14: 55,956,747 (GRCm39) R319H probably benign Het
Scn10a A C 9: 119,467,767 (GRCm39) F791C possibly damaging Het
Stab1 T A 14: 30,883,756 (GRCm39) D267V probably damaging Het
Sva A T 6: 42,019,596 (GRCm39) Y152F possibly damaging Het
Tgfbrap1 T G 1: 43,114,789 (GRCm39) M104L probably damaging Het
Tmed4 T C 11: 6,221,728 (GRCm39) T203A probably benign Het
Toe1 C T 4: 116,662,177 (GRCm39) A331T possibly damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trpm7 T C 2: 126,700,329 (GRCm39) probably benign Het
Ttll7 C T 3: 146,636,170 (GRCm39) R438* probably null Het
Usp11 G T X: 20,584,031 (GRCm39) G601W probably damaging Het
Vmn2r112 A G 17: 22,833,984 (GRCm39) T551A possibly damaging Het
Vmn2r73 T C 7: 85,520,871 (GRCm39) K366E probably benign Het
Vps33a A G 5: 123,707,634 (GRCm39) I111T possibly damaging 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
R4623:Calb1 UTSW 4 15,895,721 (GRCm39) intron probably benign
R5463:Calb1 UTSW 4 15,885,656 (GRCm39) missense 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
(F):5'- TGGAACTGTTAAGGGTTCTACC -3'
(R):5'- TACACCAGTCCATTAAGAAGAGATC -3'

Sequencing Primer
(F):5'- GGTTCTACCCCAACACTGAGTTAGG -3'
(R):5'- ATATGAATACTCACCAGGTTGTTTC -3'
Posted On 2014-12-29