Incidental Mutation 'IGL02604:Calb2'
ID 300197
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Calb2
Ensembl Gene ENSMUSG00000003657
Gene Name calbindin 2
Synonyms calretinin, CR
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # IGL02604
Quality Score
Status
Chromosome 8
Chromosomal Location 110869158-110894844 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 110875160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 155 (Y155D)
Ref Sequence ENSEMBL: ENSMUSP00000148680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003754] [ENSMUST00000212297]
AlphaFold Q08331
Predicted Effect probably damaging
Transcript: ENSMUST00000003754
AA Change: Y155D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003754
Gene: ENSMUSG00000003657
AA Change: Y155D

DomainStartEndE-ValueType
EFh 20 48 3.22e-5 SMART
EFh 67 95 1.25e-2 SMART
EFh 111 139 2.01e-6 SMART
EFh 155 183 1.87e0 SMART
EFh 199 227 4.96e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000212297
AA Change: Y155D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targeting and intracellular calcium buffering. It also functions as a modulator of neuronal excitability, and is a diagnostic marker for some human diseases, including Hirschsprung disease and some cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygous targeted mutants showed normal growth, normal brain histology, and generally normal behavior. Impaired motor coordination was observed in wheel running in young and old mutant mice, and progressive impairment was seen on the runway and horizontal stationary rod tests in older mice. Abnormalities are observed in Purkinje cell firing, altering both simple and complex spikes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T C 17: 35,878,845 (GRCm39) V61A probably benign Het
Arfgef1 G A 1: 10,251,275 (GRCm39) probably benign Het
Arhgef4 T A 1: 34,850,804 (GRCm39) L594* probably null Het
Cacna2d3 T C 14: 29,015,066 (GRCm39) T375A possibly damaging Het
Camkmt A G 17: 85,404,053 (GRCm39) T92A possibly damaging Het
Cfap91 A G 16: 38,141,921 (GRCm39) probably benign Het
Chsy3 A G 18: 59,542,187 (GRCm39) S442G probably benign Het
Cyp4f13 T C 17: 33,151,395 (GRCm39) I173V probably benign Het
Dapk1 A G 13: 60,896,134 (GRCm39) T741A probably benign Het
Dennd3 T C 15: 73,428,252 (GRCm39) I866T probably damaging Het
Dhrs2 A T 14: 55,474,778 (GRCm39) I138F possibly damaging Het
Dscaml1 C T 9: 45,655,626 (GRCm39) probably benign Het
Fsbp A G 4: 11,584,147 (GRCm39) E282G probably damaging Het
Hpgds A T 6: 65,100,594 (GRCm39) L128Q probably damaging Het
Hspa9 A G 18: 35,087,266 (GRCm39) V13A unknown Het
Itgb3 A G 11: 104,553,269 (GRCm39) E709G probably damaging Het
Jarid2 T C 13: 45,027,877 (GRCm39) S148P probably damaging Het
Kcna6 C T 6: 126,716,167 (GRCm39) G241R probably benign Het
Kdm5a T A 6: 120,408,941 (GRCm39) N1541K probably benign Het
Kel C A 6: 41,664,516 (GRCm39) E640D probably damaging Het
Lcp1 A T 14: 75,461,566 (GRCm39) I520F probably benign Het
Lgr4 A G 2: 109,841,658 (GRCm39) I524V probably damaging Het
Mup20 A C 4: 61,970,141 (GRCm39) Y139D probably damaging Het
Notch4 T C 17: 34,784,362 (GRCm39) probably null Het
Obox7 A G 7: 14,399,293 (GRCm39) E173G probably benign Het
Or10a49 T A 7: 108,467,857 (GRCm39) Y168F probably benign Het
Or2a25 T A 6: 42,888,992 (GRCm39) C178* probably null Het
Or5w22 A T 2: 87,362,949 (GRCm39) T191S probably damaging Het
Or8b40 C T 9: 38,027,148 (GRCm39) Q19* probably null Het
Or9i1 T A 19: 13,839,170 (GRCm39) N4K probably benign Het
Patl2 T G 2: 121,955,814 (GRCm39) T241P possibly damaging Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Plekhg6 T C 6: 125,354,342 (GRCm39) probably benign Het
Pon1 C A 6: 5,168,375 (GRCm39) G344V probably damaging Het
Ppp1r21 G T 17: 88,880,171 (GRCm39) K529N probably benign Het
Prdm15 A G 16: 97,623,142 (GRCm39) S203P probably benign Het
Psmc2 T A 5: 22,000,098 (GRCm39) probably null Het
Ptn T C 6: 36,692,653 (GRCm39) M166V unknown Het
Ptpn13 A G 5: 103,649,769 (GRCm39) N391D probably benign Het
Rnf214 A G 9: 45,780,841 (GRCm39) S383P probably damaging Het
Rufy4 T A 1: 74,173,348 (GRCm39) L438H probably damaging Het
Scarf2 A G 16: 17,621,608 (GRCm39) T353A probably damaging Het
Serpinb9e A C 13: 33,441,742 (GRCm39) I225L probably benign Het
Slc25a40 T C 5: 8,503,219 (GRCm39) V312A probably benign Het
Tmc3 A G 7: 83,271,827 (GRCm39) Y993C possibly damaging Het
Trim56 A C 5: 137,141,930 (GRCm39) C529G probably damaging Het
Trim8 T C 19: 46,503,917 (GRCm39) S490P probably damaging Het
Trmt6 A T 2: 132,652,357 (GRCm39) Y147* probably null Het
Vmn2r109 T A 17: 20,760,963 (GRCm39) H798L probably damaging Het
Vps35 A G 8: 86,013,018 (GRCm39) L153P probably damaging Het
Wdr82 T C 9: 106,060,880 (GRCm39) I131T probably damaging Het
Zfp69 A T 4: 120,788,660 (GRCm39) D218E probably benign Het
Other mutations in Calb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Calb2 APN 8 110,872,303 (GRCm39) missense probably damaging 1.00
IGL03250:Calb2 APN 8 110,869,739 (GRCm39) missense probably benign 0.09
R1108:Calb2 UTSW 8 110,869,760 (GRCm39) nonsense probably null
R2007:Calb2 UTSW 8 110,894,702 (GRCm39) missense probably benign 0.40
R3195:Calb2 UTSW 8 110,883,635 (GRCm39) splice site probably benign
R3683:Calb2 UTSW 8 110,883,620 (GRCm39) missense probably benign 0.07
R3684:Calb2 UTSW 8 110,883,620 (GRCm39) missense probably benign 0.07
R4523:Calb2 UTSW 8 110,875,141 (GRCm39) splice site probably null
R4661:Calb2 UTSW 8 110,894,709 (GRCm39) missense probably benign 0.04
R4662:Calb2 UTSW 8 110,894,709 (GRCm39) missense probably benign 0.04
R5326:Calb2 UTSW 8 110,883,610 (GRCm39) missense possibly damaging 0.83
R5566:Calb2 UTSW 8 110,879,332 (GRCm39) missense possibly damaging 0.85
R8289:Calb2 UTSW 8 110,894,690 (GRCm39) missense possibly damaging 0.50
R8678:Calb2 UTSW 8 110,874,275 (GRCm39) missense possibly damaging 0.86
R9653:Calb2 UTSW 8 110,881,374 (GRCm39) missense probably benign
Posted On 2015-04-16