Incidental Mutation 'R5566:Calb2'
ID 436829
Institutional Source Beutler Lab
Gene Symbol Calb2
Ensembl Gene ENSMUSG00000003657
Gene Name calbindin 2
Synonyms CR, calretinin
MMRRC Submission 043123-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R5566 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 110137502-110168210 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110152700 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 91 (I91T)
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: I91T

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000003754
Gene: ENSMUSG00000003657
AA Change: I91T

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 possibly damaging
Transcript: ENSMUST00000212297
AA Change: I91T

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110002H16Rik T C 18: 12,180,692 (GRCm38) I26T possibly damaging Het
Abca13 T A 11: 9,294,615 (GRCm38) Y2159* probably null Het
Abca3 A G 17: 24,383,927 (GRCm38) T499A probably benign Het
Abcb5 T A 12: 118,935,967 (GRCm38) T322S probably damaging Het
Adamts4 T A 1: 171,250,850 (GRCm38) M1K probably null Het
Adamtsl4 C T 3: 95,685,455 (GRCm38) probably null Het
Adh4 A T 3: 138,424,189 (GRCm38) I259F probably damaging Het
Aff3 G A 1: 38,181,424 (GRCm38) S1135F probably damaging Het
Arhgef16 T C 4: 154,285,648 (GRCm38) D280G probably benign Het
Baiap3 T C 17: 25,251,733 (GRCm38) E71G probably damaging Het
BC030867 T A 11: 102,255,833 (GRCm38) S312T probably damaging Het
Ccr5 A G 9: 124,124,660 (GRCm38) N100S probably benign Het
Cep57 G T 9: 13,821,575 (GRCm38) R25S probably damaging Het
Chadl A G 15: 81,695,878 (GRCm38) L52P probably damaging Het
Clec12b T C 6: 129,385,475 (GRCm38) T6A probably damaging Het
Cnga1 T A 5: 72,618,250 (GRCm38) N43Y probably damaging Het
Col20a1 A T 2: 180,986,523 (GRCm38) probably null Het
Csmd2 T C 4: 128,462,889 (GRCm38) probably null Het
Ctps A T 4: 120,554,103 (GRCm38) probably null Het
Cyp39a1 T A 17: 43,685,208 (GRCm38) W224R possibly damaging Het
Defb29 A T 2: 152,538,928 (GRCm38) Y54N probably benign Het
Dmbt1 A T 7: 131,106,273 (GRCm38) D1241V probably damaging Het
Dnah1 A T 14: 31,274,366 (GRCm38) I2671K probably benign Het
Dnah2 C A 11: 69,516,569 (GRCm38) E158* probably null Het
Edar A G 10: 58,628,641 (GRCm38) S59P possibly damaging Het
Egr2 T A 10: 67,540,766 (GRCm38) C339* probably null Het
Eif5b G A 1: 38,045,684 (GRCm38) V871I possibly damaging Het
Eif5b G A 1: 38,051,247 (GRCm38) G1169E probably damaging Het
Erap1 A G 13: 74,662,412 (GRCm38) Y290C probably damaging Het
Fastkd5 T A 2: 130,614,301 (GRCm38) T790S possibly damaging Het
Fkrp C T 7: 16,810,924 (GRCm38) V338M probably damaging Het
Gabra6 T C 11: 42,307,490 (GRCm38) T378A probably benign Het
Gm4924 C A 10: 82,378,641 (GRCm38) Q17K possibly damaging Het
Gm9847 A G 12: 14,494,999 (GRCm38) noncoding transcript Het
Gpr108 A G 17: 57,236,919 (GRCm38) F429S probably damaging Het
Gpr162 G A 6: 124,860,938 (GRCm38) R250* probably null Het
Gtf2a1 A T 12: 91,567,594 (GRCm38) D295E possibly damaging Het
Gtf2h3 C T 5: 124,584,297 (GRCm38) T121I probably benign Het
Herc1 T A 9: 66,465,537 (GRCm38) M3125K possibly damaging Het
Hoxb6 T A 11: 96,300,754 (GRCm38) Y167* probably null Het
Htt T C 5: 34,849,075 (GRCm38) Y1443H probably damaging Het
Il21r A G 7: 125,625,298 (GRCm38) D28G probably damaging Het
Impact T G 18: 12,974,762 (GRCm38) V29G probably damaging Het
Itpr3 A G 17: 27,115,952 (GRCm38) T2147A possibly damaging Het
Itsn2 T A 12: 4,626,554 (GRCm38) L50Q probably damaging Het
Jade1 A G 3: 41,604,903 (GRCm38) D473G possibly damaging Het
Kif26a T G 12: 112,157,354 (GRCm38) L131R probably damaging Het
Kif2a A T 13: 106,993,924 (GRCm38) M1K probably null Het
Lrsam1 C A 2: 32,941,858 (GRCm38) Q368H probably damaging Het
Macf1 T C 4: 123,435,164 (GRCm38) Q4592R probably damaging Het
Map3k5 T C 10: 20,110,719 (GRCm38) V893A probably damaging Het
Med13l G T 5: 118,728,665 (GRCm38) V595F possibly damaging Het
Mocs1 T A 17: 49,454,183 (GRCm38) L435Q possibly damaging Het
Mtmr4 T C 11: 87,604,530 (GRCm38) L471P probably damaging Het
Myo7a T C 7: 98,064,816 (GRCm38) E1616G possibly damaging Het
Nacad T A 11: 6,602,136 (GRCm38) S352C probably damaging Het
Nfat5 T A 8: 107,369,135 (GRCm38) M817K possibly damaging Het
Ofcc1 C A 13: 40,094,653 (GRCm38) L668F probably damaging Het
Olfr1062 G A 2: 86,423,377 (GRCm38) Q100* probably null Het
Olfr18 T C 9: 20,313,969 (GRCm38) Q309R probably benign Het
Olfr527 C A 7: 140,336,067 (GRCm38) D68E probably damaging Het
Plxnb2 T C 15: 89,164,020 (GRCm38) T696A probably benign Het
Prkab2 T A 3: 97,662,293 (GRCm38) F58L probably benign Het
Prpf4 G T 4: 62,415,969 (GRCm38) L220F probably benign Het
Rad18 A T 6: 112,681,346 (GRCm38) D199E probably benign Het
Raet1e T C 10: 22,174,405 (GRCm38) L29P probably damaging Het
Ralgapb A C 2: 158,494,710 (GRCm38) T1089P possibly damaging Het
Rest A G 5: 77,282,326 (GRCm38) E864G probably benign Het
Rgsl1 T A 1: 153,793,774 (GRCm38) I289F probably damaging Het
Rint1 T C 5: 23,810,953 (GRCm38) Y406H probably damaging Het
Rpl31 C T 1: 39,370,027 (GRCm38) R41C probably benign Het
Scn8a T C 15: 100,974,534 (GRCm38) S485P probably damaging Het
Slamf1 T A 1: 171,787,970 (GRCm38) V249E possibly damaging Het
Slc39a12 C T 2: 14,407,603 (GRCm38) T362I possibly damaging Het
Sos1 C T 17: 80,453,890 (GRCm38) V126I possibly damaging Het
Srcap T C 7: 127,525,303 (GRCm38) F215S probably damaging Het
Supt4a T A 11: 87,743,287 (GRCm38) S110T probably benign Het
Tbc1d30 T A 10: 121,302,110 (GRCm38) T232S probably damaging Het
Tctex1d2 A G 16: 32,419,900 (GRCm38) Y31C probably damaging Het
Tenm3 A G 8: 48,279,006 (GRCm38) C1288R probably damaging Het
Tespa1 T A 10: 130,355,487 (GRCm38) L100* probably null Het
Tgm1 C A 14: 55,712,436 (GRCm38) R105L probably damaging Het
Tgoln1 G A 6: 72,616,035 (GRCm38) T154I possibly damaging Het
Trp53i13 G A 11: 77,508,726 (GRCm38) T259I probably damaging Het
Tubgcp4 T A 2: 121,184,770 (GRCm38) F320I possibly damaging Het
Vmn1r21 A C 6: 57,844,094 (GRCm38) Y122D probably benign Het
Vmn1r75 T A 7: 11,880,480 (GRCm38) D46E probably damaging Het
Vmn2r120 A T 17: 57,545,290 (GRCm38) L9M possibly damaging Het
Vmn2r59 A G 7: 42,046,823 (GRCm38) I165T possibly damaging Het
Vmn2r76 A T 7: 86,226,078 (GRCm38) Y564N probably damaging Het
Wee1 G T 7: 110,126,050 (GRCm38) E300* probably null Het
Xdh T C 17: 73,893,622 (GRCm38) D1168G probably damaging Het
Zcchc6 A T 13: 59,788,629 (GRCm38) C817* probably null Het
Zfp54 A G 17: 21,433,444 (GRCm38) T67A probably damaging Het
Zfp941 G T 7: 140,812,766 (GRCm38) H227N probably benign Het
Zpr1 T A 9: 46,281,075 (GRCm38) V399D possibly damaging Het
Zzz3 A G 3: 152,455,824 (GRCm38) E285G probably damaging Het
Other mutations in Calb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Calb2 APN 8 110,145,671 (GRCm38) missense probably damaging 1.00
IGL02604:Calb2 APN 8 110,148,528 (GRCm38) missense probably damaging 1.00
IGL03250:Calb2 APN 8 110,143,107 (GRCm38) missense probably benign 0.09
R1108:Calb2 UTSW 8 110,143,128 (GRCm38) nonsense probably null
R2007:Calb2 UTSW 8 110,168,070 (GRCm38) missense probably benign 0.40
R3195:Calb2 UTSW 8 110,157,003 (GRCm38) splice site probably benign
R3683:Calb2 UTSW 8 110,156,988 (GRCm38) missense probably benign 0.07
R3684:Calb2 UTSW 8 110,156,988 (GRCm38) missense probably benign 0.07
R4523:Calb2 UTSW 8 110,148,509 (GRCm38) splice site probably null
R4661:Calb2 UTSW 8 110,168,077 (GRCm38) missense probably benign 0.04
R4662:Calb2 UTSW 8 110,168,077 (GRCm38) missense probably benign 0.04
R5326:Calb2 UTSW 8 110,156,978 (GRCm38) missense possibly damaging 0.83
R8289:Calb2 UTSW 8 110,168,058 (GRCm38) missense possibly damaging 0.50
R8678:Calb2 UTSW 8 110,147,643 (GRCm38) missense possibly damaging 0.86
R9653:Calb2 UTSW 8 110,154,742 (GRCm38) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-10-24