Incidental Mutation 'R5746:Cbln3'
ID 445796
Institutional Source Beutler Lab
Gene Symbol Cbln3
Ensembl Gene ENSMUSG00000040380
Gene Name cerebellin 3 precursor protein
Synonyms
MMRRC Submission 043199-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5746 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 56116377-56121713 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56120601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 144 (S144P)
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: S144P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070494
Gene: ENSMUSG00000040380
AA Change: S144P

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
C1Q 57 197 6.3e-40 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172378
AA Change: S144P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127798
Gene: ENSMUSG00000040380
AA Change: S144P

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: 95.6%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora3 A G 3: 105,815,126 (GRCm39) E292G possibly damaging Het
Ank1 C T 8: 23,606,612 (GRCm39) T1187I probably damaging Het
Ankrd16 T A 2: 11,789,178 (GRCm39) I255K probably damaging Het
Atp6ap1l T C 13: 91,031,698 (GRCm39) N328S probably benign Het
Cdh12 T A 15: 21,358,810 (GRCm39) L78Q probably null Het
Cpsf1 C T 15: 76,484,037 (GRCm39) R761H probably benign Het
Cyp2d10 T G 15: 82,289,472 (GRCm39) E213D probably benign Het
Gba2 T C 4: 43,568,465 (GRCm39) probably null Het
Glb1l2 G A 9: 26,708,086 (GRCm39) A29V probably benign Het
Gm11149 C T 9: 49,457,494 (GRCm39) G393S probably damaging Het
Igkv6-29 C A 6: 70,115,584 (GRCm39) G70V possibly damaging Het
Kcnma1 T C 14: 23,544,635 (GRCm39) N574S probably damaging Het
Kdm2b A G 5: 123,017,427 (GRCm39) V1099A probably damaging Het
Kel C T 6: 41,675,961 (GRCm39) G243E probably damaging Het
Ly6g A T 15: 75,028,596 (GRCm39) N19Y possibly damaging Het
Nexn TCTTCCTTC TCTTC 3: 151,948,513 (GRCm39) probably benign Het
Nod2 T C 8: 89,390,970 (GRCm39) S411P probably damaging Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Ptpn14 G A 1: 189,578,610 (GRCm39) probably null Het
Smg6 G A 11: 75,030,113 (GRCm39) G211E probably damaging Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Tbc1d15 T C 10: 115,046,184 (GRCm39) S440G probably damaging Het
Tpm2 A G 4: 43,519,731 (GRCm39) V85A possibly damaging Het
Ttf1 G T 2: 28,955,754 (GRCm39) A373S probably damaging Het
Vmn2r11 T A 5: 109,201,560 (GRCm39) T315S probably benign Het
Zcchc14 T C 8: 122,331,378 (GRCm39) probably benign Het
Zfp146 T C 7: 29,861,818 (GRCm39) S75G probably benign Het
Zfp994 A G 17: 22,420,254 (GRCm39) Y232H 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
R4524:Cbln3 UTSW 14 56,121,522 (GRCm39) nonsense probably null
R5295:Cbln3 UTSW 14 56,120,920 (GRCm39) splice site probably null
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'- GTCCTCAGAGTGGGAAGATG -3'
(R):5'- ATAGCCCTTCTGTTGGACCTG -3'

Sequencing Primer
(F):5'- TGAGGAAGCCTGAGAAGCTC -3'
(R):5'- TATGGCAGATGTACAGAACCC -3'
Posted On 2016-11-21