Incidental Mutation 'IGL02983:Cbln2'
ID 406644
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cbln2
Ensembl Gene ENSMUSG00000024647
Gene Name cerebellin 2 precursor protein
Synonyms 6330593N19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL02983
Quality Score
Status
Chromosome 18
Chromosomal Location 86711110-86718283 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86713379 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 104 (E104G)
Ref Sequence ENSEMBL: ENSMUSP00000126810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068423] [ENSMUST00000122079] [ENSMUST00000122464] [ENSMUST00000169470]
AlphaFold Q8BGU2
Predicted Effect probably benign
Transcript: ENSMUST00000068423
AA Change: E104G

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000068863
Gene: ENSMUSG00000024647
AA Change: E104G

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122079
AA Change: E104G

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113695
Gene: ENSMUSG00000024647
AA Change: E104G

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122464
AA Change: E104G

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113996
Gene: ENSMUSG00000024647
AA Change: E104G

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169470
AA Change: E104G

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000126810
Gene: ENSMUSG00000024647
AA Change: E104G

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020D05Rik A G 19: 5,503,181 F191L possibly damaging Het
Abca13 A G 11: 9,290,663 N842S probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Brip1 T C 11: 86,139,124 I565V probably benign Het
Camta2 C T 11: 70,672,022 R959Q probably damaging Het
Cdc42ep4 T C 11: 113,729,169 K132R probably benign Het
Clcnka T A 4: 141,390,131 I452F probably damaging Het
Clec4a3 T A 6: 122,967,567 probably null Het
Crat A C 2: 30,404,526 probably null Het
Cspp1 A G 1: 10,127,525 K227R probably benign Het
Ddx1 A T 12: 13,223,862 I588N probably damaging Het
Dip2b G T 15: 100,132,022 R98L possibly damaging Het
Dock5 G A 14: 67,764,670 P1617L probably damaging Het
Fa2h C T 8: 111,346,522 probably null Het
Fezf1 T A 6: 23,247,872 N68I probably damaging Het
Gabrb2 A T 11: 42,421,400 L17F probably benign Het
Gm17078 T C 14: 51,611,190 K30R probably benign Het
Gramd4 G A 15: 86,127,018 V249M probably damaging Het
Kcnd2 A C 6: 21,216,555 D86A probably damaging Het
Lrp1 T C 10: 127,550,199 E3486G probably damaging Het
Ltb A G 17: 35,194,670 D50G probably benign Het
Med18 A T 4: 132,459,686 Y167* probably null Het
Nat14 G A 7: 4,924,128 A100T probably damaging Het
Nxph2 T C 2: 23,400,362 V242A probably damaging Het
Olfr338 T A 2: 36,377,637 I287N probably damaging Het
Olfr443-ps1 T C 6: 43,094,648 noncoding transcript Het
Olfr54 T C 11: 51,027,380 V126A probably damaging Het
Olfr818 T A 10: 129,945,189 N291I probably damaging Het
Pramef20 T C 4: 144,373,127 E356G probably benign Het
Rad21l A G 2: 151,655,120 L358S probably damaging Het
Rasgef1c A G 11: 49,957,049 T4A possibly damaging Het
Spata31d1a A G 13: 59,703,694 S207P possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Szt2 T C 4: 118,365,779 probably benign Het
Taf6 T C 5: 138,178,880 T642A probably benign Het
Tmem30a A T 9: 79,771,443 M277K possibly damaging Het
Vmn1r86 T C 7: 13,102,814 D45G probably damaging Het
Xkr5 T C 8: 18,933,832 I565V probably benign Het
Zfp526 C T 7: 25,224,415 A33V probably benign Het
Other mutations in Cbln2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Cbln2 APN 18 86716384 nonsense probably null
IGL01942:Cbln2 APN 18 86716325 missense probably benign 0.44
IGL02369:Cbln2 APN 18 86713354 missense probably damaging 1.00
R0899:Cbln2 UTSW 18 86716752 missense possibly damaging 0.91
R1778:Cbln2 UTSW 18 86713147 missense probably benign 0.11
R2004:Cbln2 UTSW 18 86716666 missense probably damaging 0.99
R5571:Cbln2 UTSW 18 86713148 missense probably benign
R7136:Cbln2 UTSW 18 86716672 missense probably damaging 1.00
R7257:Cbln2 UTSW 18 86716734 missense probably damaging 0.98
Posted On 2016-08-02