Incidental Mutation 'R3195:Calb2'
ID 267603
Institutional Source Beutler Lab
Gene Symbol Calb2
Ensembl Gene ENSMUSG00000003657
Gene Name calbindin 2
Synonyms calretinin, CR
MMRRC Submission 040616-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # R3195 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 110869158-110894844 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 110883635 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 benign
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 benign
Transcript: ENSMUST00000212297
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (33/34)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,892,132 (GRCm39) N158K probably benign Het
Acnat1 G C 4: 49,447,457 (GRCm39) P357A probably damaging Het
Akap6 T A 12: 53,119,240 (GRCm39) C1102* probably null Het
Cdh15 G A 8: 123,583,374 (GRCm39) R59H probably benign Het
Csgalnact1 TGG TG 8: 68,913,737 (GRCm39) probably null Het
Dmtf1 A G 5: 9,182,454 (GRCm39) probably benign Het
Focad A G 4: 88,325,588 (GRCm39) E151G possibly damaging Het
Frem1 A G 4: 82,932,351 (GRCm39) F117L probably damaging Het
Gab2 A G 7: 96,921,236 (GRCm39) T204A probably benign Het
Gapdh T C 6: 125,139,583 (GRCm39) N229S possibly damaging Het
Gm3604 A T 13: 62,517,868 (GRCm39) C163* probably null Het
Iqub G C 6: 24,462,036 (GRCm39) probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
L1td1 A G 4: 98,625,755 (GRCm39) E650G possibly damaging Het
Lilra5 G A 7: 4,241,756 (GRCm39) G185D probably damaging Het
Lpin1 A G 12: 16,615,584 (GRCm39) S323P possibly damaging Het
Mmp7 C A 9: 7,692,219 (GRCm39) S31R probably benign Het
Myo1h G A 5: 114,466,801 (GRCm39) C283Y probably benign Het
Nfkbiz A G 16: 55,639,991 (GRCm39) L122P probably damaging Het
Or10c1 A G 17: 37,522,427 (GRCm39) F106L possibly damaging Het
Or1e35 T C 11: 73,797,484 (GRCm39) Y278C possibly damaging Het
Paqr8 A G 1: 21,005,257 (GRCm39) E137G probably damaging Het
Pde4b G A 4: 102,456,840 (GRCm39) A429T probably damaging Het
Pes1 T C 11: 3,925,736 (GRCm39) probably benign Het
Reln A T 5: 22,245,418 (GRCm39) I730N possibly damaging Het
Sh3rf1 C T 8: 61,679,321 (GRCm39) P121L probably benign Het
Skint9 T G 4: 112,248,148 (GRCm39) I199L probably benign Het
Slc13a4 C T 6: 35,245,861 (GRCm39) V595M probably damaging Het
Smarca2 A G 19: 26,661,222 (GRCm39) E939G possibly damaging Het
Spg11 A G 2: 121,913,879 (GRCm39) probably null Het
Trpm1 T A 7: 63,849,061 (GRCm39) Y102* probably null Het
Usp42 A G 5: 143,702,954 (GRCm39) S556P probably benign Het
Zfp957 A G 14: 79,450,332 (GRCm39) V489A 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
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
Predicted Primers PCR Primer
(F):5'- CGAAAGACTCTTTAGTGCCAAG -3'
(R):5'- GCTGAGTACTCCAAGGGTAC -3'

Sequencing Primer
(F):5'- AGACTCTTTAGTGCCAAGATTGGAG -3'
(R):5'- CACATTATTAATCTTGAACATGTGCC -3'
Posted On 2015-02-18