Incidental Mutation 'R8254:Calb1'
ID 640637
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 067680-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.502) question?
Stock # R8254 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 15881264-15906709 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15898926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 141 (T141A)
Ref Sequence ENSEMBL: ENSMUSP00000029876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029876]
AlphaFold P12658
Predicted Effect probably benign
Transcript: ENSMUST00000029876
AA Change: T141A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029876
Gene: ENSMUSG00000028222
AA Change: T141A

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 0.0576 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (43/43)
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
Aadacl3 T C 4: 144,182,760 (GRCm39) Y236C probably benign Het
Arhgef2 T C 3: 88,549,910 (GRCm39) L655P probably damaging Het
Brsk2 T C 7: 141,538,153 (GRCm39) S100P probably damaging Het
Cog6 T C 3: 52,900,938 (GRCm39) T447A probably benign Het
Cyp4f13 A T 17: 33,148,907 (GRCm39) N279K probably benign Het
Dnah11 T C 12: 117,842,259 (GRCm39) D4440G possibly damaging Het
Dspp A T 5: 104,323,194 (GRCm39) E112D possibly damaging Het
Fam3c T A 6: 22,328,675 (GRCm39) T71S possibly damaging Het
Fcgbpl1 T C 7: 27,846,774 (GRCm39) V1119A possibly damaging Het
Fdxr C A 11: 115,162,144 (GRCm39) G188W probably damaging Het
Fndc5 T C 4: 129,032,514 (GRCm39) V39A possibly damaging Het
Gm14226 T C 2: 154,866,646 (GRCm39) I201T possibly damaging Het
Grip1 C T 10: 119,890,810 (GRCm39) Q950* probably null Het
Haspin A T 11: 73,027,572 (GRCm39) Y506N probably benign Het
Itga2b C A 11: 102,358,212 (GRCm39) R171L probably benign Het
Kctd2 C T 11: 115,311,174 (GRCm39) P61S unknown Het
Kirrel2 A G 7: 30,149,801 (GRCm39) probably null Het
Ldc1 C A 4: 130,114,136 (GRCm39) A94S probably benign Het
Lmx1b A G 2: 33,455,126 (GRCm39) F310S Het
Map4k4 A T 1: 40,045,835 (GRCm39) I574F probably damaging Het
Nrip1 T C 16: 76,088,287 (GRCm39) K1090R probably benign Het
Ntrk3 T C 7: 77,842,326 (GRCm39) Y820C probably damaging Het
Or5ac25 T A 16: 59,182,534 (GRCm39) I16L probably benign Het
Or5b96 T C 19: 12,867,849 (GRCm39) T31A probably benign Het
Pcdhb11 T C 18: 37,555,242 (GRCm39) Y191H probably benign Het
Pgm5 T C 19: 24,705,089 (GRCm39) K475E probably benign Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Psd4 A T 2: 24,293,223 (GRCm39) D696V probably damaging Het
Rere T C 4: 150,697,129 (GRCm39) F556L unknown Het
Sema4f A T 6: 82,894,382 (GRCm39) C528S probably damaging Het
Sorcs2 A G 5: 36,195,550 (GRCm39) S680P probably benign Het
Sv2c T C 13: 96,225,073 (GRCm39) T79A probably damaging Het
Tars3 A G 7: 65,325,809 (GRCm39) N461S probably benign Het
Thada T C 17: 84,533,468 (GRCm39) N1661S probably benign Het
Tubd1 A T 11: 86,440,264 (GRCm39) Q96L probably damaging Het
Vmn2r72 T C 7: 85,400,227 (GRCm39) D274G probably damaging Het
Vps13d A T 4: 144,709,882 (GRCm39) probably benign Het
Vwce C A 19: 10,627,938 (GRCm39) S466Y probably damaging Het
Wdr11 T C 7: 129,236,560 (GRCm39) I1178T probably benign Het
Zfp568 A T 7: 29,714,558 (GRCm39) H145L probably benign Het
Zfp606 T C 7: 12,226,788 (GRCm39) I303T possibly damaging Het
Zfp846 A G 9: 20,504,587 (GRCm39) D149G 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
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
R9480:Calb1 UTSW 4 15,885,608 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTGTCACAGATCGATTCATTTTGG -3'
(R):5'- TGTGACATAGCTTCATCAGAAATGC -3'

Sequencing Primer
(F):5'- CGATTCATTTTGGGAAGCCACAG -3'
(R):5'- GCTTCATCAGAAATGCTCATTTGTGG -3'
Posted On 2020-07-28