Incidental Mutation 'R8391:Cbln3'
ID 647395
Institutional Source Beutler Lab
Gene Symbol Cbln3
Ensembl Gene ENSMUSG00000040380
Gene Name cerebellin 3 precursor protein
Synonyms
MMRRC Submission 067756-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8391 (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 A at 56120523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 170 (R170C)
Ref Sequence ENSEMBL: ENSMUSP00000070494 (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: R170C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070494
Gene: ENSMUSG00000040380
AA Change: R170C

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
C1Q 57 197 6.3e-40 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172378
AA Change: R170C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127798
Gene: ENSMUSG00000040380
AA Change: R170C

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
C1Q 57 197 6.3e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000228462
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T C 16: 20,368,968 (GRCm39) S155P possibly damaging Het
Akr1c21 C T 13: 4,626,278 (GRCm39) R101W probably damaging Het
Angpt1 T A 15: 42,375,794 (GRCm39) N154I probably damaging Het
Aoc1l2 T C 6: 48,909,602 (GRCm39) W616R probably damaging Het
Atp2a1 T A 7: 126,047,888 (GRCm39) I641F possibly damaging Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Bltp3b T C 10: 89,645,605 (GRCm39) V1226A possibly damaging Het
Cacna1b G A 2: 24,596,212 (GRCm39) A493V probably damaging Het
Cacna1h G A 17: 25,596,204 (GRCm39) A1939V probably benign Het
Cacna2d4 A G 6: 119,325,706 (GRCm39) I1027V probably benign Het
Cemip T C 7: 83,604,517 (GRCm39) S842G probably damaging Het
Cep164 T A 9: 45,718,491 (GRCm39) Q284L unknown Het
Crybg2 T C 4: 133,803,035 (GRCm39) F889L probably damaging Het
Fhip1a T C 3: 85,595,788 (GRCm39) N366D probably damaging Het
Gars1 T A 6: 55,025,127 (GRCm39) Y124N probably damaging Het
Gbp2b T C 3: 142,309,894 (GRCm39) F228S probably damaging Het
Gm5565 C A 5: 146,096,962 (GRCm39) R59L probably benign Het
Gm8947 A T 1: 151,068,737 (GRCm39) D190V probably benign Het
Grid2ip T C 5: 143,365,951 (GRCm39) M543T probably damaging Het
Gucy2c A G 6: 136,681,213 (GRCm39) L957P probably damaging Het
Hint1 T C 11: 54,757,368 (GRCm39) I18T possibly damaging Het
Il23r T C 6: 67,429,374 (GRCm39) S323G probably benign Het
Iqcf3 T G 9: 106,438,175 (GRCm39) E16A unknown Het
Kcnj1 A T 9: 32,308,028 (GRCm39) T151S probably damaging Het
Kdm1a G T 4: 136,281,154 (GRCm39) T685K probably benign Het
Lipo4 T A 19: 33,488,965 (GRCm39) H206L probably benign Het
Lrp5 A G 19: 3,654,185 (GRCm39) Y1081H probably damaging Het
Masp1 A T 16: 23,289,128 (GRCm39) H557Q possibly damaging Het
Nhsl1 C T 10: 18,400,691 (GRCm39) T605I possibly damaging Het
Or1af1 T A 2: 37,110,277 (GRCm39) Y259N probably damaging Het
Or1j21 C T 2: 36,684,096 (GRCm39) P283S probably damaging Het
Pkmyt1 C T 17: 23,954,013 (GRCm39) R307C probably damaging Het
Plppr4 T C 3: 117,129,060 (GRCm39) I136V probably benign Het
Ppp1r12c A C 7: 4,500,431 (GRCm39) Y150D probably damaging Het
Qrich2 C G 11: 116,356,403 (GRCm39) V149L probably benign Het
R3hdm1 T C 1: 128,121,215 (GRCm39) F176L Het
Ric8a T A 7: 140,437,916 (GRCm39) S52T probably benign Het
Romo1 G T 2: 155,986,340 (GRCm39) probably benign Het
Rps6ka1 G A 4: 133,591,346 (GRCm39) H318Y probably damaging Het
Slc43a3 A G 2: 84,768,151 (GRCm39) N41S probably benign Het
Srrm4 T G 5: 116,582,755 (GRCm39) T567P unknown Het
Srsf12 C G 4: 33,226,070 (GRCm39) P111R probably damaging Het
St6galnac4 G T 2: 32,484,086 (GRCm39) D95Y probably damaging Het
Sult2a6 T C 7: 13,956,516 (GRCm39) probably null Het
Synj2 A G 17: 5,991,796 (GRCm39) E24G probably damaging Het
Try10 T G 6: 41,334,306 (GRCm39) L166R probably damaging Het
Ttn A G 2: 76,562,544 (GRCm39) V28767A probably damaging Het
Ttn T A 2: 76,604,822 (GRCm39) I18371F probably damaging Het
Zc3h13 T A 14: 75,568,625 (GRCm39) L1306Q probably damaging Het
Zp2 T A 7: 119,726,179 (GRCm39) T674S probably benign Het
Zscan4-ps3 A G 7: 11,346,801 (GRCm39) Y279C 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
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
Predicted Primers PCR Primer
(F):5'- ATCTCATGCAAGGAGGTGGG -3'
(R):5'- AGTTCCCAAAAGAAAACTCTTGGG -3'

Sequencing Primer
(F):5'- CTGGAGGGGGCCTTTCTC -3'
(R):5'- CCCAAAAGAAAACTCTTGGGAGGATG -3'
Posted On 2020-09-02