Incidental Mutation 'IGL02369:Cbln2'
ID 290857
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cbln2
Ensembl Gene ENSMUSG00000024647
Gene Name cerebellin 2 precursor protein
Synonyms 6330593N19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # IGL02369
Quality Score
Status
Chromosome 18
Chromosomal Location 86729235-86736408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86731479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 96 (S96P)
Ref Sequence ENSEMBL: ENSMUSP00000126810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068423] [ENSMUST00000122079] [ENSMUST00000122464] [ENSMUST00000169470]
AlphaFold Q8BGU2
Predicted Effect probably damaging
Transcript: ENSMUST00000068423
AA Change: S96P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068863
Gene: ENSMUSG00000024647
AA Change: S96P

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122079
AA Change: S96P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113695
Gene: ENSMUSG00000024647
AA Change: S96P

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122464
AA Change: S96P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113996
Gene: ENSMUSG00000024647
AA Change: S96P

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169470
AA Change: S96P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126810
Gene: ENSMUSG00000024647
AA Change: S96P

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 G T 6: 39,551,678 (GRCm39) L148F probably damaging Het
Arhgef10 G A 8: 15,047,551 (GRCm39) R1138H probably damaging Het
Arpp21 T C 9: 111,948,266 (GRCm39) T668A probably benign Het
Atp6v0b T A 4: 117,742,850 (GRCm39) I79F possibly damaging Het
Atp8b5 A T 4: 43,334,205 (GRCm39) N324Y probably benign Het
Bach2 A G 4: 32,579,975 (GRCm39) I610M possibly damaging Het
Casr G T 16: 36,315,051 (GRCm39) D929E probably benign Het
Cpxm1 T C 2: 130,238,344 (GRCm39) K73E probably damaging Het
Erap1 A G 13: 74,814,645 (GRCm39) Y457C probably benign Het
Etl4 T C 2: 20,535,000 (GRCm39) Y152H probably damaging Het
Fbh1 A T 2: 11,751,969 (GRCm39) S910T possibly damaging Het
Gm10142 T C 10: 77,551,947 (GRCm39) S103P probably benign Het
Gm12886 A G 4: 121,280,229 (GRCm39) S16P unknown Het
Gpr146 T C 5: 139,378,443 (GRCm39) Y82H probably benign Het
Herc1 C T 9: 66,399,293 (GRCm39) Q4282* probably null Het
Htr2a A T 14: 74,943,722 (GRCm39) E434V probably benign Het
Iqsec3 T C 6: 121,389,893 (GRCm39) probably benign Het
Islr A C 9: 58,064,907 (GRCm39) V200G probably damaging Het
Katnal1 T C 5: 148,815,737 (GRCm39) D400G probably benign Het
Lonrf2 A G 1: 38,850,913 (GRCm39) probably benign Het
Lrp2 A T 2: 69,294,980 (GRCm39) L3446Q probably damaging Het
Med12l G A 3: 59,164,794 (GRCm39) V1425I probably benign Het
Myh13 T C 11: 67,251,100 (GRCm39) probably benign Het
Nutm2 T G 13: 50,623,944 (GRCm39) S214A probably benign Het
Or10aa1 T A 1: 173,869,539 (GRCm39) W8R possibly damaging Het
Or2h1b A G 17: 37,462,665 (GRCm39) F66S probably damaging Het
Or5b99 T C 19: 12,977,072 (GRCm39) S241P probably damaging Het
Or6c33 C A 10: 129,853,425 (GRCm39) A65E possibly damaging Het
Pax5 A T 4: 44,691,919 (GRCm39) M109K probably damaging Het
Pfkfb2 G A 1: 130,628,572 (GRCm39) R345W probably damaging Het
Pkd1l3 A G 8: 110,342,977 (GRCm39) D105G unknown Het
Prdm11 A G 2: 92,805,864 (GRCm39) V362A probably benign Het
Prex2 T C 1: 11,171,393 (GRCm39) probably null Het
Prl8a1 T C 13: 27,760,924 (GRCm39) T103A possibly damaging Het
Rgl1 T C 1: 152,409,357 (GRCm39) I493V probably damaging Het
Rimkla A G 4: 119,335,146 (GRCm39) V79A possibly damaging Het
Ryr2 A T 13: 11,634,382 (GRCm39) S3791R possibly damaging Het
Sh3rf2 C A 18: 42,289,222 (GRCm39) S681* probably null Het
Stmnd1 T A 13: 46,439,029 (GRCm39) I87K probably benign Het
Tspan8 C A 10: 115,675,782 (GRCm39) F149L probably benign Het
Tspan8 A C 10: 115,675,783 (GRCm39) K150Q probably benign Het
Ttn T C 2: 76,772,720 (GRCm39) E2425G probably damaging 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
IGL02983:Cbln2 APN 18 86,731,504 (GRCm39) missense probably benign 0.07
R0899:Cbln2 UTSW 18 86,734,877 (GRCm39) missense possibly damaging 0.91
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
Posted On 2015-04-16