Incidental Mutation 'R5295:Cbln3'
ID 405375
Institutional Source Beutler Lab
Gene Symbol Cbln3
Ensembl Gene ENSMUSG00000040380
Gene Name cerebellin 3 precursor protein
Synonyms
MMRRC Submission 042878-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5295 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 56116377-56121713 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 56120920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022831] [ENSMUST00000063871] [ENSMUST00000172378] [ENSMUST00000228462]
AlphaFold Q9JHG0
Predicted Effect probably benign
Transcript: ENSMUST00000022831
SMART Domains Protein: ENSMUSP00000022831
Gene: ENSMUSG00000047153

DomainStartEndE-ValueType
low complexity region 350 365 N/A INTRINSIC
low complexity region 367 380 N/A INTRINSIC
Pfam:RNase_Zc3h12a 429 582 1.9e-66 PFAM
low complexity region 623 637 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000063871
SMART Domains Protein: ENSMUSP00000070494
Gene: ENSMUSG00000040380

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
C1Q 57 197 6.3e-40 SMART
Predicted Effect probably null
Transcript: ENSMUST00000172378
SMART Domains Protein: ENSMUSP00000127798
Gene: ENSMUSG00000040380

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
C1Q 57 197 6.3e-40 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227462
Predicted Effect probably benign
Transcript: ENSMUST00000228462
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the precerebellin family, such as CBLN3, contain a cerebellin motif (see CBLN1; MIM 600432) and a C-terminal C1q signature domain (see MIM 120550) that mediates trimeric assembly of atypical collagen complexes. However, precerebellins do not contain a collagen motif, suggesting that they are not conventional components of the extracellular matrix (Pang et al., 2000 [PubMed 10964938]).[supplied by OMIM, Aug 2009]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and behaviorally normal with no apparent defects in cerebellar foliation and lamination or Purkinje cell morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 C T 18: 65,438,109 (GRCm39) E1095K probably damaging Het
Alpl T C 4: 137,476,919 (GRCm39) T245A probably benign Het
Ank2 T C 3: 126,825,832 (GRCm39) H378R probably damaging Het
Arhgef1 G A 7: 24,618,777 (GRCm39) probably null Het
Atp5f1c T C 2: 10,073,544 (GRCm39) R10G possibly damaging Het
Ccr10 C T 11: 101,065,111 (GRCm39) V140M possibly damaging Het
Cep135 T A 5: 76,741,051 (GRCm39) H42Q possibly damaging Het
Commd5 C A 15: 76,785,152 (GRCm39) T183K possibly damaging Het
Dnajc16 T C 4: 141,495,239 (GRCm39) E493G possibly damaging Het
Ears2 T C 7: 121,647,421 (GRCm39) R288G probably damaging Het
Elovl4 G A 9: 83,662,714 (GRCm39) P273L possibly damaging Het
Fam186b T A 15: 99,181,755 (GRCm39) I148F probably damaging Het
Fryl T C 5: 73,270,134 (GRCm39) Y79C probably damaging Het
Gad1-ps A G 10: 99,280,751 (GRCm39) noncoding transcript Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Ighv1-77 T A 12: 115,825,528 (GRCm39) S104C probably damaging Het
Kcnv1 T C 15: 44,977,987 (GRCm39) D17G unknown Het
Lmtk3 G A 7: 45,440,722 (GRCm39) D243N probably damaging Het
Lrrc7 T A 3: 157,876,376 (GRCm39) K571N probably damaging Het
Lsm7 T C 10: 80,690,454 (GRCm39) E32G probably damaging Het
Ly6f A G 15: 75,143,488 (GRCm39) Q65R probably benign Het
Perm1 T C 4: 156,301,975 (GRCm39) L173P probably benign Het
Plvap T C 8: 71,964,314 (GRCm39) Q16R probably benign Het
Prb1c T G 6: 132,338,840 (GRCm39) Q126P unknown Het
Prl7d1 A T 13: 27,893,230 (GRCm39) V227D probably damaging Het
Prss54 T C 8: 96,291,106 (GRCm39) T165A probably damaging Het
Psrc1 A G 3: 108,293,675 (GRCm39) I195V probably benign Het
Rnf123 AT ATT 9: 107,941,202 (GRCm39) probably null Het
Rnf213 A T 11: 119,331,642 (GRCm39) T2284S probably benign Het
Serpina3c T C 12: 104,114,637 (GRCm39) E333G probably damaging Het
Serpinb6c A G 13: 34,077,800 (GRCm39) F190S probably damaging Het
Sfmbt1 G A 14: 30,495,986 (GRCm39) D90N probably damaging Het
Tdh T C 14: 63,733,558 (GRCm39) Y110C probably damaging Het
Tdrd9 T A 12: 112,018,346 (GRCm39) L1255* probably null Het
Trim41 TTCCTCCTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCCTCCTCC 11: 48,707,084 (GRCm39) probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Zbtb2 T C 10: 4,318,508 (GRCm39) K506R probably damaging Het
Zmiz1 T C 14: 25,656,771 (GRCm39) L800P probably damaging Het
Znhit6 A G 3: 145,306,248 (GRCm39) D251G probably benign Het
Other mutations in Cbln3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02820:Cbln3 APN 14 56,120,944 (GRCm39) missense probably damaging 1.00
PIT4504001:Cbln3 UTSW 14 56,120,956 (GRCm39) missense probably damaging 1.00
R0417:Cbln3 UTSW 14 56,121,586 (GRCm39) missense probably benign 0.01
R2210:Cbln3 UTSW 14 56,121,383 (GRCm39) missense possibly damaging 0.61
R2472:Cbln3 UTSW 14 56,121,538 (GRCm39) missense possibly damaging 0.80
R4524:Cbln3 UTSW 14 56,121,522 (GRCm39) nonsense probably null
R5746:Cbln3 UTSW 14 56,120,601 (GRCm39) missense probably damaging 1.00
R6179:Cbln3 UTSW 14 56,121,517 (GRCm39) missense possibly damaging 0.91
R8391:Cbln3 UTSW 14 56,120,523 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGTCCTAGTCCTTAGCTCAGG -3'
(R):5'- AACCCAGTGATGCTCCTGAG -3'

Sequencing Primer
(F):5'- TTAGCTCAGGACACCCCG -3'
(R):5'- TCCTGAGCTCCCGGCAC -3'
Posted On 2016-07-22