Incidental Mutation 'R4523:Calb2'
ID 334311
Institutional Source Beutler Lab
Gene Symbol Calb2
Ensembl Gene ENSMUSG00000003657
Gene Name calbindin 2
Synonyms calretinin, CR
MMRRC Submission 042004-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # R4523 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 110869158-110894844 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 110875141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003754] [ENSMUST00000212297]
AlphaFold Q08331
Predicted Effect probably null
Transcript: ENSMUST00000003754
SMART Domains Protein: ENSMUSP00000003754
Gene: ENSMUSG00000003657

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 null
Transcript: ENSMUST00000212297
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (61/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a1 G T 5: 67,824,943 (GRCm39) T796K probably benign Het
Atr T C 9: 95,744,916 (GRCm39) S78P probably damaging Het
Ccdc88c G T 12: 100,879,591 (GRCm39) S1843R possibly damaging Het
Cdca7 A G 2: 72,310,042 (GRCm39) S77G probably damaging Het
Cfap47 A T X: 78,553,601 (GRCm39) N291K possibly damaging Het
Cnot2 C T 10: 116,417,379 (GRCm39) probably benign Het
Cstf2t T A 19: 31,060,482 (GRCm39) V6D possibly damaging Het
Cybc1 A G 11: 121,114,934 (GRCm39) probably benign Het
Dido1 T C 2: 180,314,085 (GRCm39) I852V probably damaging Het
Dmgdh C T 13: 93,825,138 (GRCm39) Q154* probably null Het
Dnah12 T C 14: 26,491,979 (GRCm39) F1138S probably damaging Het
Dnah12 G A 14: 26,598,915 (GRCm39) A998T possibly damaging Het
Dusp5 T G 19: 53,526,032 (GRCm39) Y225D probably damaging Het
Fam193a G A 5: 34,600,715 (GRCm39) D601N probably benign Het
Fbxo41 A G 6: 85,461,024 (GRCm39) I228T probably damaging Het
Fmo2 T C 1: 162,715,277 (GRCm39) K115R probably benign Het
Gak G T 5: 108,724,432 (GRCm39) Q1093K probably benign Het
Gm5277 G T 3: 78,799,493 (GRCm39) noncoding transcript Het
Hgsnat A G 8: 26,458,389 (GRCm39) probably null Het
Hycc1 T C 5: 24,170,120 (GRCm39) T410A probably benign Het
Irag1 T C 7: 110,523,048 (GRCm39) M338V probably benign Het
Map3k3 G A 11: 106,039,694 (GRCm39) R278H probably damaging Het
Muc4 T C 16: 32,555,154 (GRCm39) probably benign Het
Nectin3 C A 16: 46,268,953 (GRCm39) R483L probably benign Het
Nop2 G T 6: 125,110,515 (GRCm39) R47L probably damaging Het
Ntng1 A G 3: 109,842,312 (GRCm39) S154P probably damaging Het
Olfml2b T C 1: 170,496,791 (GRCm39) I474T probably benign Het
Optc G T 1: 133,831,492 (GRCm39) T138K possibly damaging Het
Or7g25 T C 9: 19,160,525 (GRCm39) T57A probably damaging Het
Or8k22 C G 2: 86,163,644 (GRCm39) D19H probably benign Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pard3 C T 8: 128,125,108 (GRCm39) P421S probably benign Het
Pcdhb22 G T 18: 37,653,474 (GRCm39) E647D probably benign Het
Pclo A G 5: 14,730,006 (GRCm39) probably benign Het
Prkce G T 17: 86,798,178 (GRCm39) probably null Het
Prr12 T C 7: 44,697,947 (GRCm39) D656G unknown Het
Ptprk A T 10: 28,342,048 (GRCm39) D485V probably damaging Het
Ptprn2 T C 12: 116,839,620 (GRCm39) L381P probably damaging Het
Rnf144b T C 13: 47,361,013 (GRCm39) I51T probably benign Het
Rpl10l T C 12: 66,330,512 (GRCm39) D207G probably benign Het
Sh3glb2 A T 2: 30,240,711 (GRCm39) V118E probably damaging Het
Sipa1l2 C T 8: 126,219,163 (GRCm39) G58D probably damaging Het
Slc5a4a C T 10: 75,984,196 (GRCm39) A46V probably damaging Het
Spmip8 T A 8: 96,039,638 (GRCm39) Y18* probably null Het
Tgm7 C A 2: 120,929,069 (GRCm39) probably null Het
Tjap1 A G 17: 46,569,718 (GRCm39) V424A probably benign Het
Trpm6 A T 19: 18,773,864 (GRCm39) I414F probably damaging Het
Tsr3 C G 17: 25,460,723 (GRCm39) D196E probably benign Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn2r72 T A 7: 85,401,134 (GRCm39) H95L probably benign Het
Vmn2r97 T A 17: 19,149,333 (GRCm39) N240K probably benign Het
Xdh C A 17: 74,205,339 (GRCm39) G1042V probably damaging Het
Zcchc4 A G 5: 52,941,409 (GRCm39) D68G probably damaging Het
Other mutations in Calb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Calb2 APN 8 110,872,303 (GRCm39) missense probably damaging 1.00
IGL02604:Calb2 APN 8 110,875,160 (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
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
Predicted Primers PCR Primer
(F):5'- CTGGAGATTTATGAGTTCCCATGG -3'
(R):5'- GCAAGCTGTGTAATTGGTAGAGC -3'

Sequencing Primer
(F):5'- TGGAAACAGAGAACCCCCAAGTC -3'
(R):5'- GTCTGACCTCCTGAAGAA -3'
Posted On 2015-08-18