Incidental Mutation 'R4662:Calb2'
ID 352934
Institutional Source Beutler Lab
Gene Symbol Calb2
Ensembl Gene ENSMUSG00000003657
Gene Name calbindin 2
Synonyms calretinin, CR
MMRRC Submission 042011-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # R4662 (G1)
Quality Score 214
Status Not validated
Chromosome 8
Chromosomal Location 110869158-110894844 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110894709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 21 (F21L)
Ref Sequence ENSEMBL: ENSMUSP00000003754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003754] [ENSMUST00000212297]
AlphaFold Q08331
Predicted Effect probably benign
Transcript: ENSMUST00000003754
AA Change: F21L

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000003754
Gene: ENSMUSG00000003657
AA Change: F21L

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: F21L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,891,939 (GRCm39) Q67L probably benign Het
Adam34l T A 8: 44,080,116 (GRCm39) Y36F probably benign Het
Adrb1 A G 19: 56,711,206 (GRCm39) T135A probably damaging Het
Ark2n T A 18: 77,762,186 (GRCm39) Q42L probably benign Het
Asxl2 G T 12: 3,477,193 (GRCm39) W13L probably damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Brsk1 T C 7: 4,710,298 (GRCm39) S436P possibly damaging Het
Camk2a T C 18: 61,074,411 (GRCm39) Y39H probably damaging Het
Cavin2 T C 1: 51,340,510 (GRCm39) S396P probably benign Het
Cfdp1 A G 8: 112,557,577 (GRCm39) F188S probably benign Het
Chek2 T A 5: 111,014,908 (GRCm39) V459D probably damaging Het
Cldn8 G A 16: 88,359,296 (GRCm39) H210Y probably benign Het
Cobl A G 11: 12,203,672 (GRCm39) V1003A probably benign Het
Ctsll3 A G 13: 60,947,416 (GRCm39) F257L possibly damaging Het
Dnajc13 A C 9: 104,084,957 (GRCm39) F819V probably damaging Het
Dram1 C A 10: 88,161,246 (GRCm39) V208L probably damaging Het
Dynlt1b A G 17: 6,699,279 (GRCm39) T10A probably benign Het
Eml6 A T 11: 29,727,390 (GRCm39) V1244E probably damaging Het
Ethe1 G A 7: 24,293,405 (GRCm39) S17N probably benign Het
Foxi1 T C 11: 34,157,578 (GRCm39) D149G probably damaging Het
Fzd9 T C 5: 135,278,475 (GRCm39) E470G probably damaging Het
Ggnbp2 A G 11: 84,753,072 (GRCm39) F56L probably damaging Het
Hao1 G A 2: 134,364,947 (GRCm39) R227* probably null Het
Hyal1 G A 9: 107,456,420 (GRCm39) R369H probably damaging Het
Jam2 G A 16: 84,609,840 (GRCm39) V151M probably damaging Het
Kcna2 T A 3: 107,012,733 (GRCm39) I438N probably benign Het
Lrp1 A T 10: 127,388,054 (GRCm39) C3331* probably null Het
Mcm9 T C 10: 53,424,623 (GRCm39) I656V probably benign Het
Mroh9 C T 1: 162,883,162 (GRCm39) C439Y probably damaging Het
N4bp2l2 T C 5: 150,574,160 (GRCm39) D85G probably damaging Het
Nr1h2 A G 7: 44,199,855 (GRCm39) Y355H probably damaging Het
Nr5a2 T C 1: 136,868,167 (GRCm39) I322V probably benign Het
Nup153 A C 13: 46,840,750 (GRCm39) L273V possibly damaging Het
Obscn A G 11: 58,890,422 (GRCm39) L7370P unknown Het
Or1a1 T C 11: 74,086,542 (GRCm39) I71T probably damaging Het
Or4b1 T A 2: 89,980,222 (GRCm39) I43F probably damaging Het
Or5k15 A G 16: 58,710,287 (GRCm39) C99R probably damaging Het
Prkdc G A 16: 15,551,916 (GRCm39) D2041N probably damaging Het
Ptdss1 A G 13: 67,081,675 (GRCm39) D35G possibly damaging Het
Ptprs G T 17: 56,724,666 (GRCm39) T1118K probably damaging Het
Pygb C T 2: 150,657,036 (GRCm39) T329I probably benign Het
Rhoh T A 5: 66,050,157 (GRCm39) D142E probably benign Het
Saraf C A 8: 34,635,616 (GRCm39) A306E probably damaging Het
Scn1a T C 2: 66,181,332 (GRCm39) I64V probably benign Het
Sec16a A G 2: 26,320,582 (GRCm39) W1333R probably damaging Het
Shroom1 A T 11: 53,357,289 (GRCm39) T651S possibly damaging Het
Skint3 C A 4: 112,134,863 (GRCm39) Y345* probably null Het
Slc1a7 T A 4: 107,864,751 (GRCm39) N263K probably damaging Het
Sptbn2 C T 19: 4,789,267 (GRCm39) R1236C probably damaging Het
Tbx21 T C 11: 96,992,393 (GRCm39) N226S probably benign Het
Thada A G 17: 84,743,078 (GRCm39) L782P probably damaging Het
Tle1 T G 4: 72,055,335 (GRCm39) I446L possibly damaging Het
Trgv1 T A 13: 19,524,503 (GRCm39) L76I possibly damaging Het
Triobp A G 15: 78,877,469 (GRCm39) D1621G probably damaging Het
Trpm2 G C 10: 77,773,972 (GRCm39) A481G probably benign Het
Unc80 A T 1: 66,685,595 (GRCm39) M2240L probably benign Het
Usp9x A G X: 12,989,747 (GRCm39) R776G possibly damaging Homo
Vangl1 T C 3: 102,074,238 (GRCm39) T290A probably benign Het
Vmn1r233 T A 17: 21,214,393 (GRCm39) I186F probably benign Het
Vmn2r102 G A 17: 19,901,424 (GRCm39) C517Y probably damaging Het
Vrk2 G A 11: 26,421,611 (GRCm39) T449M possibly damaging Het
Zfp518a A G 19: 40,900,304 (GRCm39) S78G probably benign Het
Zscan25 T C 5: 145,223,120 (GRCm39) S131P unknown Het
Zscan29 G A 2: 120,997,096 (GRCm39) T140I probably benign 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
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'- AAACTTACTGACAGTTGCCACCAG -3'
(R):5'- CTCCGGGCTGCATATAAAGG -3'

Sequencing Primer
(F):5'- GGCATTTCCCCGAACTCAAG -3'
(R):5'- TGCATATAAAGGCAGCGTGGC -3'
Posted On 2015-10-08