Incidental Mutation 'R0899:Cbln2'
ID 83819
Institutional Source Beutler Lab
Gene Symbol Cbln2
Ensembl Gene ENSMUSG00000024647
Gene Name cerebellin 2 precursor protein
Synonyms 6330593N19Rik
MMRRC Submission 039059-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R0899 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 86729235-86736408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86734877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 217 (S217P)
Ref Sequence ENSEMBL: ENSMUSP00000126810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068423] [ENSMUST00000122079] [ENSMUST00000122464] [ENSMUST00000169470]
AlphaFold Q8BGU2
Predicted Effect possibly damaging
Transcript: ENSMUST00000068423
AA Change: S217P

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000068863
Gene: ENSMUSG00000024647
AA Change: S217P

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000122079
AA Change: S217P

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113695
Gene: ENSMUSG00000024647
AA Change: S217P

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000122464
AA Change: S217P

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113996
Gene: ENSMUSG00000024647
AA Change: S217P

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000169470
AA Change: S217P

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126810
Gene: ENSMUSG00000024647
AA Change: S217P

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to a family of secreted neuronal glycoproteins. The transcript is broadly expressed in the embryonic and adult brain with higher levels in some regions including the olfactory bulb, thalamus, and cerebral cortex. The protein can bind to presynaptic neurexins and induce synaptogenesis in cultured neurons. Null mutant mice are viable, fertile and do not display obvious neuroanatomical defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: No overt anatomical or neuroanatomical defects are observed in mice homozygous for deletion of this gene. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik T C 15: 84,833,459 (GRCm39) K442E probably damaging Het
Adamts1 G A 16: 85,594,940 (GRCm39) R340* probably null Het
Afg3l2 T C 18: 67,556,047 (GRCm39) N428S possibly damaging Het
Aqp12 G A 1: 92,934,332 (GRCm39) D70N probably damaging Het
Astn1 T A 1: 158,338,679 (GRCm39) C475* probably null Het
Atp2b1 G A 10: 98,852,893 (GRCm39) probably null Het
Ces2h T C 8: 105,741,182 (GRCm39) L58P probably damaging Het
Cfap43 C T 19: 47,736,433 (GRCm39) G1353R possibly damaging Het
Crcp A G 5: 130,088,672 (GRCm39) M91V probably benign Het
Cubn A G 2: 13,367,139 (GRCm39) V1577A possibly damaging Het
Dthd1 A G 5: 63,000,271 (GRCm39) H531R probably benign Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Fam3d A G 14: 8,364,863 (GRCm38) I16T probably damaging Het
Fat2 C T 11: 55,147,051 (GRCm39) G3982S probably damaging Het
Fbxo44 C G 4: 148,240,726 (GRCm39) R220S probably damaging Het
Fcnb T A 2: 27,966,791 (GRCm39) K247N probably damaging Het
Gtf2a1l A G 17: 88,976,152 (GRCm39) N5S Het
Htr3a T A 9: 48,812,752 (GRCm39) D229V possibly damaging Het
Ipo11 A C 13: 107,037,324 (GRCm39) L173* probably null Het
Jam3 C A 9: 27,010,253 (GRCm39) G244W probably damaging Het
Lypd11 C T 7: 24,422,737 (GRCm39) R112H probably benign Het
Mrpl52 C T 14: 54,664,541 (GRCm39) R12* probably null Het
Myo15a A G 11: 60,368,011 (GRCm39) Y257C possibly damaging Het
Myocd G A 11: 65,086,018 (GRCm39) P215L possibly damaging Het
Ndst1 T C 18: 60,840,954 (GRCm39) T243A probably benign Het
Obox5 A T 7: 15,492,800 (GRCm39) T252S probably benign Het
Or5m13b A G 2: 85,753,731 (GRCm39) T40A probably benign Het
Or6c75 T C 10: 129,337,301 (GRCm39) F183L probably damaging Het
Or7g34 A C 9: 19,477,843 (GRCm39) V276G probably damaging Het
Osbpl1a T C 18: 12,890,747 (GRCm39) S377G possibly damaging Het
Pfkl A G 10: 77,841,273 (GRCm39) probably null Het
Prdm16 A T 4: 154,613,366 (GRCm39) N20K probably damaging Het
Prkd1 A G 12: 50,431,976 (GRCm39) I589T probably damaging Het
Scnn1b G A 7: 121,516,938 (GRCm39) G525S probably damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Ttn A G 2: 76,718,329 (GRCm39) probably benign Het
Wap T C 11: 6,586,725 (GRCm39) T125A probably benign Het
Wdr86 C T 5: 24,923,005 (GRCm39) R229Q probably benign Het
Other mutations in Cbln2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Cbln2 APN 18 86,734,509 (GRCm39) nonsense probably null
IGL01942:Cbln2 APN 18 86,734,450 (GRCm39) missense probably benign 0.44
IGL02369:Cbln2 APN 18 86,731,479 (GRCm39) missense probably damaging 1.00
IGL02983:Cbln2 APN 18 86,731,504 (GRCm39) missense probably benign 0.07
R1778:Cbln2 UTSW 18 86,731,272 (GRCm39) missense probably benign 0.11
R2004:Cbln2 UTSW 18 86,734,791 (GRCm39) missense probably damaging 0.99
R5571:Cbln2 UTSW 18 86,731,273 (GRCm39) missense probably benign
R7136:Cbln2 UTSW 18 86,734,797 (GRCm39) missense probably damaging 1.00
R7257:Cbln2 UTSW 18 86,734,859 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCTACCCGGTGATCTCTGCATTTG -3'
(R):5'- TCTGAGGGTCAGCAGCATCTATGTC -3'

Sequencing Primer
(F):5'- TCTGCATTTGCCGGAGAC -3'
(R):5'- GTCAGCAGCATCTATGTCATCAG -3'
Posted On 2013-11-08