Incidental Mutation 'R5496:Cbln1'
ID 432351
Institutional Source Beutler Lab
Gene Symbol Cbln1
Ensembl Gene ENSMUSG00000031654
Gene Name cerebellin 1 precursor protein
Synonyms
MMRRC Submission 043057-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R5496 (G1)
Quality Score 177
Status Not validated
Chromosome 8
Chromosomal Location 88195481-88199220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88198324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 127 (I127T)
Ref Sequence ENSEMBL: ENSMUSP00000126575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034076] [ENSMUST00000169693]
AlphaFold Q9R171
Predicted Effect possibly damaging
Transcript: ENSMUST00000034076
AA Change: I127T

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034076
Gene: ENSMUSG00000031654
AA Change: I127T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
C1Q 55 193 6.52e-65 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000169693
AA Change: I127T

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126575
Gene: ENSMUSG00000031654
AA Change: I127T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
C1Q 55 193 6.52e-65 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180700
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211487
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182758
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183294
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182650
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211279
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several derivatives, including the hexadecapeptide, cerebellin, which is highly enriched in postsynaptic structures of Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the secretory activity of this gland. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygous mutation of this gene results in ataxia, impaired coordination, and abnormal Purkinje cell excitatory postsynaptic currents and innervation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,724,818 (GRCm39) V84I probably benign Het
Adam10 T G 9: 70,630,021 (GRCm39) F151C probably damaging Het
Akap6 A G 12: 53,187,436 (GRCm39) S1617G possibly damaging Het
Ano6 T A 15: 95,865,495 (GRCm39) probably null Het
Atmin A G 8: 117,683,911 (GRCm39) T524A probably benign Het
Bicra C T 7: 15,721,766 (GRCm39) V584I probably benign Het
Carmil1 G A 13: 24,339,433 (GRCm39) R54C probably damaging Het
Ccl26 A G 5: 135,592,217 (GRCm39) V40A probably benign Het
Cdh20 T A 1: 109,976,647 (GRCm39) I104N probably damaging Het
Cdt1 C T 8: 123,297,239 (GRCm39) R311W probably damaging Het
Cfap91 A G 16: 38,141,855 (GRCm39) I359T probably damaging Het
Col12a1 A G 9: 79,509,467 (GRCm39) probably benign Het
Csf2rb A G 15: 78,224,761 (GRCm39) E173G probably damaging Het
Cyb561 A G 11: 105,828,545 (GRCm39) Y94H probably damaging Het
Cyp3a16 T A 5: 145,404,341 (GRCm39) K34M probably damaging Het
Diras2 C T 13: 52,661,786 (GRCm39) V174M probably benign Het
Dnah7a T G 1: 53,496,927 (GRCm39) M3110L probably benign Het
Dyrk2 T C 10: 118,695,956 (GRCm39) E434G probably damaging Het
Ebag9 T G 15: 44,503,816 (GRCm39) *214E probably null Het
Egln3 A T 12: 54,250,110 (GRCm39) W80R probably damaging Het
Eps15l1 A G 8: 73,136,619 (GRCm39) Y336H probably benign Het
Gak A G 5: 108,724,483 (GRCm39) S1076P probably benign Het
Glra1 T C 11: 55,418,241 (GRCm39) Y168C probably damaging Het
Glrx2 T A 1: 143,620,945 (GRCm39) M108K probably damaging Het
Gm3604 A T 13: 62,519,393 (GRCm39) S59T possibly damaging Het
Gm8212 A T 14: 44,438,614 (GRCm39) probably benign Het
Gmcl1 G T 6: 86,674,507 (GRCm39) A457D probably damaging Het
H2-M11 T C 17: 36,858,871 (GRCm39) F137S possibly damaging Het
Ighv1-55 C G 12: 115,172,140 (GRCm39) W3S probably damaging Het
Il22 T G 10: 118,041,002 (GRCm39) V36G possibly damaging Het
Ints1 G A 5: 139,740,953 (GRCm39) A1904V probably benign Het
Iqgap2 A G 13: 95,766,561 (GRCm39) Y1481H probably damaging Het
Kcnn3 C T 3: 89,516,797 (GRCm39) A402V possibly damaging Het
Kif18b A T 11: 102,804,568 (GRCm39) I362N possibly damaging Het
Kif5c C G 2: 49,620,202 (GRCm39) A223G possibly damaging Het
Kntc1 A G 5: 123,922,245 (GRCm39) D948G probably benign Het
Krba1 A G 6: 48,383,290 (GRCm39) T229A possibly damaging Het
Leprot T A 4: 101,515,093 (GRCm39) I113N probably damaging Het
Lrp1b T C 2: 40,817,985 (GRCm39) D2415G probably benign Het
Mnd1 T A 3: 83,995,481 (GRCm39) D171V probably damaging Het
Mthfsd A T 8: 121,825,553 (GRCm39) Y339* probably null Het
Nfatc2 G A 2: 168,378,198 (GRCm39) T268M probably damaging Het
Or14j10 T C 17: 37,935,469 (GRCm39) D19G probably benign Het
Or52d3 G C 7: 104,229,701 (GRCm39) A283P probably damaging Het
Or8h7 G T 2: 86,720,658 (GRCm39) P287Q probably damaging Het
Or8h7 G C 2: 86,720,659 (GRCm39) P287A probably damaging Het
Pan3 G A 5: 147,463,938 (GRCm39) probably null Het
Pde6a A T 18: 61,386,736 (GRCm39) probably null Het
Prss39 T C 1: 34,539,342 (GRCm39) I194T possibly damaging Het
Rfx8 T C 1: 39,709,507 (GRCm39) S507G probably benign Het
Rif1 T C 2: 51,988,928 (GRCm39) S774P probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Smurf1 C A 5: 144,819,403 (GRCm39) E601* probably null Het
Stau2 T C 1: 16,460,245 (GRCm39) S231G probably damaging Het
Timp2 T G 11: 118,194,707 (GRCm39) M161L probably benign Het
Tlr5 T C 1: 182,801,197 (GRCm39) L167P probably damaging Het
Trhr G A 15: 44,060,932 (GRCm39) A151T probably benign Het
Unc13d A G 11: 115,957,534 (GRCm39) V807A probably damaging Het
Usp2 T C 9: 43,996,505 (GRCm39) V7A possibly damaging Het
Uspl1 A G 5: 149,146,589 (GRCm39) T447A probably damaging Het
Zan A G 5: 137,434,607 (GRCm39) I2232T unknown Het
Zfp12 C A 5: 143,230,550 (GRCm39) C292* probably null Het
Zfp850 A C 7: 27,706,771 (GRCm39) M43R probably damaging Het
Zic5 G A 14: 122,696,755 (GRCm39) T620M unknown Het
Other mutations in Cbln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0201:Cbln1 UTSW 8 88,198,741 (GRCm39) missense probably benign 0.09
R6786:Cbln1 UTSW 8 88,198,657 (GRCm39) missense probably benign 0.30
R7561:Cbln1 UTSW 8 88,198,624 (GRCm39) missense probably benign 0.00
R7638:Cbln1 UTSW 8 88,198,357 (GRCm39) missense probably damaging 1.00
R7848:Cbln1 UTSW 8 88,198,328 (GRCm39) missense probably damaging 1.00
R7908:Cbln1 UTSW 8 88,198,724 (GRCm39) missense probably benign 0.00
R8474:Cbln1 UTSW 8 88,198,673 (GRCm39) missense possibly damaging 0.87
R8682:Cbln1 UTSW 8 88,198,735 (GRCm39) missense possibly damaging 0.69
R8826:Cbln1 UTSW 8 88,198,420 (GRCm39) missense probably benign
R9246:Cbln1 UTSW 8 88,197,048 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCACAGGAACCTTGGACAG -3'
(R):5'- AGGCGGATGTGGGATATACTC -3'

Sequencing Primer
(F):5'- CTCACAGGAACCTTGGACAGTTTAAG -3'
(R):5'- GATATACTCTCCAGGGACTCTGCAG -3'
Posted On 2016-10-05