Incidental Mutation 'R4524:Cbln3'
ID 334382
Institutional Source Beutler Lab
Gene Symbol Cbln3
Ensembl Gene ENSMUSG00000040380
Gene Name cerebellin 3 precursor protein
Synonyms
MMRRC Submission 041766-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4524 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 56116377-56121713 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 56121522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 41 (C41*)
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
AA Change: C41*
SMART Domains Protein: ENSMUSP00000070494
Gene: ENSMUSG00000040380
AA Change: C41*

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
C1Q 57 197 6.3e-40 SMART
Predicted Effect probably null
Transcript: ENSMUST00000172378
AA Change: C41*
SMART Domains Protein: ENSMUSP00000127798
Gene: ENSMUSG00000040380
AA Change: C41*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (58/60)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,342,076 (GRCm39) S962G probably benign Het
Ackr2 T C 9: 121,738,609 (GRCm39) V328A probably benign Het
Ang4 G T 14: 52,001,605 (GRCm39) C114* probably null Het
Arid1b A T 17: 5,147,895 (GRCm39) Q599L possibly damaging Het
Ascc3 A G 10: 50,536,766 (GRCm39) N700D probably benign Het
Atrnl1 A G 19: 57,618,738 (GRCm39) D152G probably damaging Het
Birc6 C T 17: 74,948,772 (GRCm39) T3067I probably damaging Het
Bmpr2 T C 1: 59,906,571 (GRCm39) S555P probably benign Het
Brox A T 1: 183,074,045 (GRCm39) L68I possibly damaging Het
C130026L21Rik A G 5: 111,733,738 (GRCm39) noncoding transcript Het
Cavin2 T C 1: 51,340,229 (GRCm39) V302A probably benign Het
Ccdc88c G T 12: 100,879,591 (GRCm39) S1843R possibly damaging Het
Clec4a2 T A 6: 123,102,043 (GRCm39) I66N probably damaging Het
Cybc1 A G 11: 121,114,934 (GRCm39) probably benign Het
Ddx27 T A 2: 166,869,640 (GRCm39) C358* probably null Het
Ehbp1 A T 11: 22,101,843 (GRCm39) D228E probably damaging Het
Emc7 T C 2: 112,285,609 (GRCm39) V66A probably damaging Het
Fbxo41 A G 6: 85,461,024 (GRCm39) I228T probably damaging Het
Furin T C 7: 80,048,382 (GRCm39) probably null Het
Gm3739 T A 14: 18,505,267 (GRCm39) K86* probably null Het
Gmpr A T 13: 45,683,215 (GRCm39) E162V probably damaging Het
Gtpbp4 A T 13: 9,024,330 (GRCm39) V541D probably benign Het
Myh2 G T 11: 67,067,096 (GRCm39) G184W probably damaging Het
Nop2 G T 6: 125,110,515 (GRCm39) R47L probably damaging Het
Nrg4 T G 9: 55,135,186 (GRCm39) probably benign Het
Ntng1 A G 3: 109,842,312 (GRCm39) S154P probably damaging Het
Or14a257 G T 7: 86,138,034 (GRCm39) H242N probably damaging Het
Or8b12 T C 9: 37,658,162 (GRCm39) L244S possibly damaging Het
Pde7a T A 3: 19,285,140 (GRCm39) H349L possibly damaging Het
Pds5b A T 5: 150,711,781 (GRCm39) D913V probably damaging Het
Plce1 T C 19: 38,512,763 (GRCm39) S21P possibly damaging Het
Ralgapb C A 2: 158,279,226 (GRCm39) T104N probably benign Het
Rapgef1 A G 2: 29,569,258 (GRCm39) I59V probably benign Het
Rpl10l T C 12: 66,330,512 (GRCm39) D207G probably benign Het
Rsph6a C T 7: 18,799,970 (GRCm39) H534Y probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Shcbp1 T C 8: 4,789,193 (GRCm39) Y542C probably damaging Het
Shisa8 C G 15: 82,096,163 (GRCm39) V151L possibly damaging Het
Slc7a8 G A 14: 54,975,059 (GRCm39) T190I probably damaging Het
Spire2 T A 8: 124,086,974 (GRCm39) S382T probably benign Het
Stard9 A G 2: 120,526,926 (GRCm39) D1061G probably damaging Het
Tex44 T G 1: 86,355,298 (GRCm39) D402E probably benign Het
Thbs1 G T 2: 117,953,460 (GRCm39) R959L probably damaging Het
Tiam2 A G 17: 3,564,986 (GRCm39) D1408G probably damaging Het
Trrap C T 5: 144,762,131 (GRCm39) T2352I probably benign Het
Tspyl5 T A 15: 33,687,738 (GRCm39) E69V probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Washc1 C T 17: 66,426,087 (GRCm39) Q462* probably null Het
Xdh C A 17: 74,205,339 (GRCm39) G1042V probably damaging 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
R5295:Cbln3 UTSW 14 56,120,920 (GRCm39) splice site 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'- AGGTCCTTGCATGTCTTCCG -3'
(R):5'- GGAGTACTGAAGCCTTGAAGC -3'

Sequencing Primer
(F):5'- TCTTCCGGACAGAGGCAGAG -3'
(R):5'- TACTGAAGCCTTGAAGCAGAGG -3'
Posted On 2015-08-18