Incidental Mutation 'R6179:Cbln3'
ID 487952
Institutional Source Beutler Lab
Gene Symbol Cbln3
Ensembl Gene ENSMUSG00000040380
Gene Name cerebellin 3 precursor protein
Synonyms
MMRRC Submission 044321-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6179 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 56116377-56121713 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 56121517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 43 (P43Q)
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 possibly damaging
Transcript: ENSMUST00000063871
AA Change: P43Q

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000070494
Gene: ENSMUSG00000040380
AA Change: P43Q

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
C1Q 57 197 6.3e-40 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000172378
AA Change: P43Q

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127798
Gene: ENSMUSG00000040380
AA Change: P43Q

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.5%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 19,003,653 (GRCm39) probably benign Het
4930590J08Rik T C 6: 91,919,311 (GRCm39) S657P probably damaging Het
Abca9 T C 11: 110,025,080 (GRCm39) I988V probably benign Het
Acte1 A G 7: 143,425,524 (GRCm39) T58A probably benign Het
Aox4 T A 1: 58,270,662 (GRCm39) D280E probably benign Het
Apob T A 12: 8,055,060 (GRCm39) L1353* probably null Het
Atp2b1 C T 10: 98,858,691 (GRCm39) R222C probably damaging Het
AW209491 T G 13: 14,811,668 (GRCm39) S174A possibly damaging Het
B930094E09Rik G C 18: 31,742,911 (GRCm39) probably benign Het
Ccdc181 A T 1: 164,107,487 (GRCm39) T57S probably benign Het
Ccr2 A C 9: 123,906,008 (GRCm39) N96T probably damaging Het
Cep131 T C 11: 119,956,837 (GRCm39) I868V probably benign Het
Chd2 A G 7: 73,094,071 (GRCm39) I1535T probably damaging Het
Chl1 A T 6: 103,660,204 (GRCm39) T377S probably benign Het
Cpeb3 A G 19: 37,065,853 (GRCm39) F439L probably damaging Het
Crb2 T C 2: 37,680,269 (GRCm39) V399A probably damaging Het
Cry2 C T 2: 92,244,187 (GRCm39) G329R probably damaging Het
Dock4 A G 12: 40,781,868 (GRCm39) E691G probably benign Het
Edil3 A T 13: 88,970,108 (GRCm39) H3L probably benign Het
Endod1 T C 9: 14,268,757 (GRCm39) I243V probably benign Het
Fpr3 G A 17: 18,190,919 (GRCm39) W63* probably null Het
Gtse1 T G 15: 85,753,158 (GRCm39) N424K possibly damaging Het
Kcnt1 G A 2: 25,783,192 (GRCm39) V252M probably damaging Het
Kifbp G A 10: 62,399,029 (GRCm39) Q130* probably null Het
Lmbrd2 T G 15: 9,149,262 (GRCm39) I48M probably damaging Het
Lrrc7 T G 3: 158,059,069 (GRCm39) I13L probably damaging Het
Mbd4 A G 6: 115,822,386 (GRCm39) S408P probably benign Het
Mphosph10 A G 7: 64,028,529 (GRCm39) V542A possibly damaging Het
Msto1 C A 3: 88,818,254 (GRCm39) R331L probably damaging Het
Myh10 G A 11: 68,692,979 (GRCm39) E1425K probably damaging Het
Nup43 T C 10: 7,554,437 (GRCm39) I340T probably benign Het
Or1j4 T C 2: 36,740,846 (GRCm39) S263P possibly damaging Het
Pcm1 T A 8: 41,736,669 (GRCm39) M884K probably damaging Het
Phf20 T A 2: 156,140,573 (GRCm39) L749H probably damaging Het
Pigp T C 16: 94,171,226 (GRCm39) R22G probably null Het
Polr2b T C 5: 77,468,824 (GRCm39) M200T probably damaging Het
Ppig T A 2: 69,580,471 (GRCm39) D668E unknown Het
Prss3 G A 6: 41,352,060 (GRCm39) R68C probably benign Het
Retreg3 G A 11: 100,994,721 (GRCm39) probably benign Het
Shank1 T C 7: 44,006,630 (GRCm39) F2116L possibly damaging Het
Spg21 T C 9: 65,376,090 (GRCm39) S33P possibly damaging Het
Spns3 A G 11: 72,390,349 (GRCm39) S432P probably damaging Het
Stra6 A G 9: 58,042,452 (GRCm39) E27G probably damaging Het
Tanc1 A G 2: 59,673,320 (GRCm39) Q1468R probably benign Het
Tbce T G 13: 14,194,362 (GRCm39) E99A probably benign Het
Tmem106b T C 6: 13,084,252 (GRCm39) V252A probably damaging Het
Trim10 A G 17: 37,187,923 (GRCm39) T380A probably damaging Het
Trim31 T A 17: 37,220,501 (GRCm39) D472E probably damaging Het
Vmn2r28 G A 7: 5,491,003 (GRCm39) Q415* probably null Het
Vwf G A 6: 125,626,252 (GRCm39) C7Y unknown Het
Yeats2 C T 16: 20,033,225 (GRCm39) P1088L probably benign Het
Zfp40 C A 17: 23,397,354 (GRCm39) V48L possibly 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
R5746:Cbln3 UTSW 14 56,120,601 (GRCm39) missense probably damaging 1.00
R8391:Cbln3 UTSW 14 56,120,523 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGTCCTTGCATGTCTTCCG -3'
(R):5'- AGTACTGAAGCCTTGAAGCAG -3'

Sequencing Primer
(F):5'- TCTTCCGGACAGAGGCAGAG -3'
(R):5'- GCCTTGAAGCAGAGGGG -3'
Posted On 2017-10-10