Incidental Mutation 'IGL02820:Cbln3'
ID 360955
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cbln3
Ensembl Gene ENSMUSG00000040380
Gene Name cerebellin 3 precursor protein
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02820
Quality Score
Status
Chromosome 14
Chromosomal Location 56116377-56121713 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56120944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 126 (Y126H)
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 damaging
Transcript: ENSMUST00000063871
AA Change: Y126H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070494
Gene: ENSMUSG00000040380
AA Change: Y126H

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
C1Q 57 197 6.3e-40 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172378
AA Change: Y126H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127798
Gene: ENSMUSG00000040380
AA Change: Y126H

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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik T C 12: 24,124,417 (GRCm39) Y86C probably benign Het
Adgra2 G A 8: 27,607,535 (GRCm39) V47M probably damaging Het
Anks1b T C 10: 89,912,921 (GRCm39) C349R possibly damaging Het
Anks4b A T 7: 119,781,914 (GRCm39) probably benign Het
Apobec2 A G 17: 48,730,295 (GRCm39) S124P probably damaging Het
Brd8 G A 18: 34,740,354 (GRCm39) S493L probably benign Het
Ccdc138 T C 10: 58,364,721 (GRCm39) probably benign Het
Cckbr C T 7: 105,083,238 (GRCm39) A147V probably damaging Het
Ceacam2 T A 7: 25,219,411 (GRCm39) H283L probably damaging Het
Cfap251 A G 5: 123,392,699 (GRCm39) probably benign Het
Clasp1 A G 1: 118,478,834 (GRCm39) D718G possibly damaging Het
Clmn A T 12: 104,739,493 (GRCm39) Y979N probably damaging Het
Ddias T C 7: 92,508,551 (GRCm39) T455A probably benign Het
Dennd5b T C 6: 148,920,840 (GRCm39) R851G probably null Het
Dock1 T C 7: 134,768,944 (GRCm39) V1771A probably benign Het
Dysf T A 6: 84,077,187 (GRCm39) L694Q probably damaging Het
Faim2 T C 15: 99,419,138 (GRCm39) Y77C probably benign Het
Fbxw22 A T 9: 109,215,732 (GRCm39) I172N probably damaging Het
Fhad1 C T 4: 141,646,069 (GRCm39) D298N probably benign Het
Fyb1 T G 15: 6,688,040 (GRCm39) V800G possibly damaging Het
Gcm1 T C 9: 77,971,844 (GRCm39) F262L probably benign Het
Gm21983 T C 7: 26,879,605 (GRCm39) M121V probably benign Het
Gm9996 A T 10: 29,019,657 (GRCm39) probably benign Het
Gstm3 A T 3: 107,876,074 (GRCm39) probably benign Het
Gsto2 G T 19: 47,863,398 (GRCm39) E91D probably damaging Het
Hs6st3 G T 14: 119,376,492 (GRCm39) M222I possibly damaging Het
Ighv3-6 T C 12: 114,251,850 (GRCm39) D90G probably damaging Het
Itgb1bp1 C T 12: 21,326,854 (GRCm39) A40T possibly damaging Het
Kcns3 C T 12: 11,141,872 (GRCm39) E276K probably benign Het
Lamc3 C T 2: 31,813,034 (GRCm39) R1007C probably damaging Het
Lnx2 A T 5: 146,978,877 (GRCm39) M125K probably damaging Het
Lyst T A 13: 13,812,643 (GRCm39) N1018K probably benign Het
Mctp2 T A 7: 71,895,290 (GRCm39) S186C probably damaging Het
Or1j20 A T 2: 36,759,871 (GRCm39) T98S probably benign Het
Polg T C 7: 79,109,519 (GRCm39) T433A possibly damaging Het
Rdh13 C T 7: 4,438,059 (GRCm39) V127M probably damaging Het
Rdh16 A G 10: 127,649,470 (GRCm39) T309A probably benign Het
Reep5 A T 18: 34,506,312 (GRCm39) D21E probably benign Het
Rptn A T 3: 93,304,227 (GRCm39) N520I probably benign Het
Rttn T C 18: 89,047,122 (GRCm39) L928P probably damaging Het
Slc44a2 A G 9: 21,254,273 (GRCm39) I212V probably benign Het
Snupn A G 9: 56,870,332 (GRCm39) T71A probably benign Het
Ssu2 T C 6: 112,359,353 (GRCm39) N89S probably benign Het
Thsd7a A G 6: 12,321,071 (GRCm39) S1535P probably damaging Het
Tmt1a C A 15: 100,202,933 (GRCm39) S51* probably null Het
Uba7 A T 9: 107,858,715 (GRCm39) S849C probably benign Het
Vmn2r80 A G 10: 79,007,439 (GRCm39) T472A probably benign Het
Wdr6 A G 9: 108,455,743 (GRCm39) I17T probably benign Het
Xkr9 G A 1: 13,771,173 (GRCm39) V230I probably benign Het
Other mutations in Cbln3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-12-18