Incidental Mutation 'R8289:Calb2'
ID 638580
Institutional Source Beutler Lab
Gene Symbol Calb2
Ensembl Gene ENSMUSG00000003657
Gene Name calbindin 2
Synonyms calretinin, CR
MMRRC Submission 067711-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # R8289 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 110869158-110894844 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110894690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 27 (H27R)
Ref Sequence ENSEMBL: ENSMUSP00000003754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003754] [ENSMUST00000212297]
AlphaFold Q08331
Predicted Effect possibly damaging
Transcript: ENSMUST00000003754
AA Change: H27R

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000003754
Gene: ENSMUSG00000003657
AA Change: H27R

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
AA Change: H27R

PolyPhen 2 Score 0.318 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (62/62)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G C 11: 109,927,515 (GRCm39) probably benign Het
Adamts3 C A 5: 89,923,282 (GRCm39) D175Y possibly damaging Het
Adra1b G A 11: 43,726,315 (GRCm39) P201S probably damaging Het
Ahnak2 A G 12: 112,742,242 (GRCm39) V610A possibly damaging Het
Ap5s1 A C 2: 131,054,379 (GRCm39) H62P probably benign Het
Apeh A G 9: 107,963,444 (GRCm39) S593P probably damaging Het
Arhgap24 T C 5: 103,028,692 (GRCm39) V289A possibly damaging Het
Atoh1 A G 6: 64,706,893 (GRCm39) E196G probably damaging Het
Atp1b3 G A 9: 96,215,602 (GRCm39) S271L probably benign Het
Atp6v0a1 A G 11: 100,924,931 (GRCm39) R339G probably damaging Het
Camkk2 A C 5: 122,894,689 (GRCm39) L201R probably damaging Het
Car15 A G 16: 17,654,580 (GRCm39) probably null Het
Cecr2 A G 6: 120,735,077 (GRCm39) N771S probably benign Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Csmd1 T A 8: 16,108,716 (GRCm39) I1896F probably damaging Het
Cubn C T 2: 13,491,613 (GRCm39) V145I probably benign Het
Cuedc1 G A 11: 88,073,381 (GRCm39) S182N probably benign Het
Cux1 T A 5: 136,337,358 (GRCm39) E718V probably damaging Het
Cyp7a1 G A 4: 6,268,295 (GRCm39) P477S probably damaging Het
Dcaf17 T A 2: 70,885,718 (GRCm39) W16R Het
Dhx8 T A 11: 101,631,571 (GRCm39) M388K probably benign Het
Dnah14 T A 1: 181,543,780 (GRCm39) Y2453* probably null Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
F830016B08Rik G A 18: 60,433,360 (GRCm39) E148K probably benign Het
Hectd4 A G 5: 121,404,424 (GRCm39) T434A possibly damaging Het
Ide A G 19: 37,290,952 (GRCm39) L368P Het
Ide G C 19: 37,290,953 (GRCm39) L368V probably null Het
Ifi206 T C 1: 173,308,032 (GRCm39) I655V Het
Insrr A G 3: 87,721,501 (GRCm39) M1136V probably damaging Het
Kcne2 A G 16: 92,093,707 (GRCm39) E78G probably damaging Het
Lrrc23 A T 6: 124,755,267 (GRCm39) L90H probably damaging Het
Magel2 A C 7: 62,028,875 (GRCm39) Q593P unknown Het
Mrgpra3 G A 7: 47,239,468 (GRCm39) H153Y possibly damaging Het
Msln A G 17: 25,967,880 (GRCm39) V595A possibly damaging Het
Mvb12a T C 8: 71,995,703 (GRCm39) probably null Het
Myo7a T G 7: 97,726,376 (GRCm39) M966L probably benign Het
Ncoa5 C T 2: 164,854,982 (GRCm39) D47N possibly damaging Het
Neurl4 T A 11: 69,800,206 (GRCm39) probably null Het
Or1e29 T A 11: 73,667,839 (GRCm39) M105L probably benign Het
Or4d1 T C 11: 87,805,589 (GRCm39) T48A probably benign Het
Or5p75-ps1 T A 7: 108,108,125 (GRCm39) H287Q unknown Het
Or8b37 T A 9: 37,959,000 (GRCm39) C161S probably benign Het
Osbpl7 T A 11: 96,947,405 (GRCm39) S480T probably benign Het
Podnl1 T C 8: 84,858,552 (GRCm39) L484P Het
Polr3gl G T 3: 96,489,228 (GRCm39) probably benign Het
Prkaa1 G T 15: 5,206,563 (GRCm39) V438L possibly damaging Het
Prune2 A T 19: 17,100,373 (GRCm39) H1959L probably benign Het
Rad50 A T 11: 53,589,685 (GRCm39) L172* probably null Het
Samsn1 C A 16: 75,685,684 (GRCm39) G25W probably damaging Het
Sbno1 T G 5: 124,542,068 (GRCm39) L362F probably damaging Het
Slc26a6 G A 9: 108,733,230 (GRCm39) R43H probably benign Het
Slc35f5 T G 1: 125,490,252 (GRCm39) Y49* probably null Het
Slc41a2 T C 10: 83,137,044 (GRCm39) I288V probably benign Het
Slc9c1 A G 16: 45,403,344 (GRCm39) M804V probably benign Het
Smc6 T A 12: 11,324,052 (GRCm39) S66T probably benign Het
Ssh1 T C 5: 114,080,445 (GRCm39) D995G probably benign Het
Stk11 G T 10: 79,961,740 (GRCm39) probably benign Het
Sycp1 A G 3: 102,748,353 (GRCm39) I813T probably benign Het
Tmem121b A T 6: 120,469,722 (GRCm39) S332T possibly damaging Het
Treml4 A C 17: 48,581,456 (GRCm39) I244L probably benign Het
Unc13b T A 4: 43,172,524 (GRCm39) C1117* probably null Het
Wdr35 A G 12: 9,058,020 (GRCm39) I526V probably benign Het
Zap70 T C 1: 36,820,218 (GRCm39) W500R probably damaging Het
Zfr G T 15: 12,135,357 (GRCm39) V49F noncoding transcript 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
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
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'- AAAACTTACTGACAGTTGCCACCAG -3'
(R):5'- CTCCGGGCTGCATATAAAGG -3'

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