Incidental Mutation 'R1553:Calb1'
ID 170066
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 039592-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.502) question?
Stock # R1553 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 15881264-15906709 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 15895656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 115 (S115C)
Ref Sequence ENSEMBL: ENSMUSP00000029876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029876]
AlphaFold P12658
Predicted Effect probably damaging
Transcript: ENSMUST00000029876
AA Change: S115C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029876
Gene: ENSMUSG00000028222
AA Change: S115C

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136266
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141336
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 G T 5: 24,613,748 (GRCm39) A649S probably damaging Het
Adam6a T A 12: 113,508,835 (GRCm39) C403S probably damaging Het
Adgrg3 T C 8: 95,766,896 (GRCm39) F417S possibly damaging Het
Ago1 T C 4: 126,334,194 (GRCm39) E439G probably damaging Het
Alox15 A G 11: 70,240,458 (GRCm39) V241A possibly damaging Het
Arhgap6 A G X: 168,048,480 (GRCm39) H566R probably damaging Het
Asap1 A T 15: 64,024,701 (GRCm39) F345I probably benign Het
Atp1b2 A G 11: 69,493,678 (GRCm39) Y134H probably damaging Het
Atp8b3 G A 10: 80,368,376 (GRCm39) T199M probably damaging Het
Ccdc68 A T 18: 70,073,192 (GRCm39) I47F probably damaging Het
Cdc42bpa A T 1: 179,921,540 (GRCm39) N560I probably benign Het
Cdhr3 T C 12: 33,092,370 (GRCm39) D747G probably benign Het
Cdk5rap1 T G 2: 154,194,171 (GRCm39) N378T probably damaging Het
Chil4 T G 3: 106,111,006 (GRCm39) N296T probably benign Het
Cryaa G A 17: 31,898,533 (GRCm39) V87I probably damaging Het
Csk G A 9: 57,538,225 (GRCm39) L28F probably damaging Het
Cspp1 A G 1: 10,156,122 (GRCm39) N444D possibly damaging Het
Cyp2j8 A G 4: 96,363,794 (GRCm39) Y290H probably benign Het
Eps8l1 A T 7: 4,480,448 (GRCm39) D563V probably damaging Het
Fam111a A T 19: 12,564,682 (GRCm39) S144C possibly damaging Het
Fam135a A T 1: 24,060,951 (GRCm39) S1145R probably damaging Het
Fpr2 T A 17: 18,113,856 (GRCm39) V284D possibly damaging Het
Furin A G 7: 80,048,340 (GRCm39) probably null Het
Gatd1 T C 7: 140,989,806 (GRCm39) T135A probably benign Het
Gdf3 A G 6: 122,586,724 (GRCm39) S68P probably benign Het
Gm6871 T C 7: 41,195,822 (GRCm39) H305R probably benign Het
Grip1 A G 10: 119,890,756 (GRCm39) S917G probably damaging Het
Hdac10 T A 15: 89,009,718 (GRCm39) E388V possibly damaging Het
Hectd1 T C 12: 51,820,661 (GRCm39) N1176S probably damaging Het
Hectd4 A G 5: 121,487,322 (GRCm39) D3439G probably benign Het
Kcna4 T C 2: 107,127,032 (GRCm39) Y589H probably benign Het
Kcnk5 A T 14: 20,192,462 (GRCm39) L233Q probably damaging Het
Kcnt1 T C 2: 25,790,397 (GRCm39) I453T probably damaging Het
Kifc3 A G 8: 95,833,170 (GRCm39) I440T possibly damaging Het
Krt10 C A 11: 99,276,806 (GRCm39) G40* probably null Het
Lce1i A T 3: 92,685,102 (GRCm39) C25S unknown Het
Met A G 6: 17,491,460 (GRCm39) N74S probably benign Het
Naa35 G A 13: 59,766,093 (GRCm39) probably null Het
Naalad2 T C 9: 18,289,965 (GRCm39) N221S probably benign Het
Nolc1 AGCG AGCGGCG 19: 46,069,814 (GRCm39) probably benign Het
Nsmf T C 2: 24,950,271 (GRCm39) V181A probably damaging Het
Nwd2 T A 5: 63,957,848 (GRCm39) S393T probably benign Het
Or12j3 T A 7: 139,952,951 (GRCm39) T191S probably damaging Het
Or2d3c A T 7: 106,526,201 (GRCm39) V155E possibly damaging Het
Or51a6 T A 7: 102,604,425 (GRCm39) I128L possibly damaging Het
Papola T A 12: 105,786,669 (GRCm39) S453R probably benign Het
Paqr9 A G 9: 95,442,262 (GRCm39) N84S probably damaging Het
Pde5a T C 3: 122,572,585 (GRCm39) V290A probably benign Het
Prf1 T C 10: 61,138,948 (GRCm39) V302A probably damaging Het
Psg18 T C 7: 18,087,406 (GRCm39) Y84C probably benign Het
Rasgrf2 C T 13: 92,038,783 (GRCm39) R1021H probably damaging Het
Rnf114 G T 2: 167,354,522 (GRCm39) R201L possibly damaging Het
Rp1l1 A G 14: 64,269,343 (GRCm39) E1643G probably benign Het
Scg3 T A 9: 75,576,586 (GRCm39) E263V probably null Het
Scn2a C T 2: 65,544,180 (GRCm39) R854* probably null Het
Setdb2 T C 14: 59,654,934 (GRCm39) K319E probably benign Het
Stub1 A T 17: 26,051,097 (GRCm39) V95E probably damaging Het
Tas2r140 T A 6: 133,032,471 (GRCm39) N96Y probably damaging Het
Tecta T A 9: 42,259,482 (GRCm39) D1467V probably damaging Het
Tenm3 T A 8: 48,689,456 (GRCm39) T2044S probably damaging Het
Tlr2 T A 3: 83,744,770 (GRCm39) M438L probably benign Het
Tmem179 T C 12: 112,471,094 (GRCm39) Y106C probably benign Het
Tspan7 A G X: 10,451,854 (GRCm39) H187R probably benign Het
Ttn T C 2: 76,757,619 (GRCm39) D3332G probably damaging Het
Upp2 T C 2: 58,680,152 (GRCm39) F326S probably damaging Het
Usp2 T A 9: 44,003,452 (GRCm39) D224E probably damaging Het
Vmn1r5 T A 6: 56,962,483 (GRCm39) F53I probably benign Het
Wapl T A 14: 34,451,147 (GRCm39) L727H probably damaging Het
Wipf1 T C 2: 73,267,870 (GRCm39) D176G possibly damaging Het
Xpnpep1 G T 19: 52,994,769 (GRCm39) D243E probably benign Het
Zfp616 A T 11: 73,974,744 (GRCm39) I429F possibly damaging Het
Zfyve26 G A 12: 79,334,535 (GRCm39) P161L 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
R2926:Calb1 UTSW 4 15,904,302 (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'- GGAAAGTGAACTGCGTCCTCTCATC -3'
(R):5'- TGCAAATGTGCCGCTGCTCAAC -3'

Sequencing Primer
(F):5'- TTGCCAGCCAATAGAGTTGC -3'
(R):5'- CCGCTGCTCAACGGAAG -3'
Posted On 2014-04-13