Incidental Mutation 'IGL00157:Cbln2'
ID 725
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: 0.083) question?
Stock # IGL00157
Quality Score
Status
Chromosome 18
Chromosomal Location 86711110-86718283 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 86716384 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 156 (Q156*)
Ref Sequence ENSEMBL: ENSMUSP00000126810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068423] [ENSMUST00000122079] [ENSMUST00000122464] [ENSMUST00000169470]
AlphaFold Q8BGU2
Predicted Effect probably null
Transcript: ENSMUST00000068423
AA Change: Q156*
SMART Domains Protein: ENSMUSP00000068863
Gene: ENSMUSG00000024647
AA Change: Q156*

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Predicted Effect probably null
Transcript: ENSMUST00000122079
AA Change: Q156*
SMART Domains Protein: ENSMUSP00000113695
Gene: ENSMUSG00000024647
AA Change: Q156*

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Predicted Effect probably null
Transcript: ENSMUST00000122464
AA Change: Q156*
SMART Domains Protein: ENSMUSP00000113996
Gene: ENSMUSG00000024647
AA Change: Q156*

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Predicted Effect probably null
Transcript: ENSMUST00000169470
AA Change: Q156*
SMART Domains Protein: ENSMUSP00000126810
Gene: ENSMUSG00000024647
AA Change: Q156*

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 A G 7: 44,253,451 V331A possibly damaging Het
Casr C A 16: 36,495,810 V633F probably damaging Het
Cblb T G 16: 52,183,307 V716G probably benign Het
Cnn1 G T 9: 22,099,397 L14F possibly damaging Het
D830013O20Rik T C 12: 73,364,247 noncoding transcript Het
Drd1 A G 13: 54,053,878 S99P probably damaging Het
Fam35a A G 14: 34,268,625 V108A probably benign Het
Fat1 T C 8: 44,951,670 V486A possibly damaging Het
Galnt7 T C 8: 57,540,039 N416S probably damaging Het
Gm10735 T C 13: 113,041,484 probably benign Het
Gm8909 A T 17: 36,165,354 probably null Het
Jag2 T C 12: 112,912,718 T790A probably benign Het
Klhdc1 T A 12: 69,242,008 Y31N possibly damaging Het
Lama1 A T 17: 67,815,928 M2769L probably benign Het
Mms19 A G 19: 41,945,457 probably null Het
Msrb2 C A 2: 19,394,341 P172T probably damaging Het
Olfr228 T C 2: 86,483,218 S175G probably benign Het
Olfr955 A G 9: 39,470,243 V161A probably benign Het
Pcdhb9 T A 18: 37,403,279 D775E possibly damaging Het
Pkhd1 T C 1: 20,566,874 probably null Het
Preb A T 5: 30,955,964 D375E probably damaging Het
Prkdc T C 16: 15,697,226 I1010T probably damaging Het
Rbp2 A G 9: 98,498,897 probably null Het
Sept9 A G 11: 117,352,184 T66A probably damaging Het
Serpinb9b A T 13: 33,035,625 E178D probably benign Het
Tg A G 15: 66,847,166 Y258C probably damaging Het
Tmprss7 T C 16: 45,663,368 R548G probably benign Het
Uba7 G A 9: 107,979,111 A536T probably benign Het
Vmn2r114 G A 17: 23,291,665 P614S probably damaging Het
Xpc A G 6: 91,492,264 probably benign Het
Yrdc T C 4: 124,853,961 S86P probably damaging Het
Zbed6 G T 1: 133,657,376 A741D probably damaging Het
Other mutations in Cbln2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01942:Cbln2 APN 18 86716325 missense probably benign 0.44
IGL02369:Cbln2 APN 18 86713354 missense probably damaging 1.00
IGL02983:Cbln2 APN 18 86713379 missense probably benign 0.07
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 2011-07-12