Incidental Mutation 'IGL01942:Cbln2'
ID 180883
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: 0.147) question?
Stock # IGL01942
Quality Score
Status
Chromosome 18
Chromosomal Location 86729235-86736408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86734450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 136 (V136A)
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: V136A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000068863
Gene: ENSMUSG00000024647
AA Change: V136A

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122079
AA Change: V136A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113695
Gene: ENSMUSG00000024647
AA Change: V136A

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122464
AA Change: V136A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113996
Gene: ENSMUSG00000024647
AA Change: V136A

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169470
AA Change: V136A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126810
Gene: ENSMUSG00000024647
AA Change: V136A

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 G A 7: 45,635,997 (GRCm39) R1017W possibly damaging Het
Arhgef26 A G 3: 62,247,515 (GRCm39) R200G probably benign Het
Arid4b A T 13: 14,310,749 (GRCm39) probably benign Het
Atp1a2 A C 1: 172,113,876 (GRCm39) S369A probably benign Het
Bag3 T A 7: 128,148,024 (GRCm39) D546E probably benign Het
Bcl6b T A 11: 70,117,569 (GRCm39) Y379F probably damaging Het
Ccnf A T 17: 24,461,294 (GRCm39) D120E probably benign Het
Cd14 T A 18: 36,858,693 (GRCm39) H254L possibly damaging Het
Chd3 A G 11: 69,240,931 (GRCm39) probably null Het
Csf2rb G A 15: 78,224,692 (GRCm39) R150H probably benign Het
Dhx35 T C 2: 158,673,784 (GRCm39) L405P probably damaging Het
Dpf1 G A 7: 29,015,927 (GRCm39) C383Y probably damaging Het
Dse T A 10: 34,031,989 (GRCm39) Q345L probably benign Het
Gnaz A G 10: 74,850,706 (GRCm39) M244V probably damaging Het
Gpr65 A T 12: 98,241,974 (GRCm39) Y209F possibly damaging Het
Inpp5f T C 7: 128,269,493 (GRCm39) I281T probably damaging Het
Kntc1 T C 5: 123,916,330 (GRCm39) F721S probably damaging Het
Mapk8ip2 G A 15: 89,341,220 (GRCm39) probably null Het
Med24 G A 11: 98,600,508 (GRCm39) R646W probably damaging Het
Nup98 A T 7: 101,843,918 (GRCm39) F102Y probably damaging Het
Or1n2 A G 2: 36,797,869 (GRCm39) M304V probably benign Het
Or4c35 G T 2: 89,808,322 (GRCm39) V67L probably benign Het
Or8g50 A T 9: 39,648,962 (GRCm39) M284L possibly damaging Het
Pgap3 T C 11: 98,288,780 (GRCm39) Y125C probably damaging Het
Rasl12 T C 9: 65,315,644 (GRCm39) V96A probably damaging Het
Rbm20 G A 19: 53,801,874 (GRCm39) M127I probably damaging Het
Rnf114 T A 2: 167,354,546 (GRCm39) probably null Het
Serpinb1b C T 13: 33,269,294 (GRCm39) T9I possibly damaging Het
Setd1b T A 5: 123,301,489 (GRCm39) F16I possibly damaging Het
Slc25a28 A G 19: 43,652,947 (GRCm39) F238S probably damaging Het
Slc2a2 T C 3: 28,759,952 (GRCm39) V30A probably damaging Het
Slc35f4 T C 14: 49,762,962 (GRCm39) probably benign Het
Socs4 T A 14: 47,528,107 (GRCm39) C347* probably null Het
Spock1 C T 13: 57,578,141 (GRCm39) E367K probably damaging Het
Ubap2 C T 4: 41,251,608 (GRCm39) R8H probably benign Het
Vmn1r44 T A 6: 89,870,806 (GRCm39) M41K probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zfp575 T C 7: 24,285,240 (GRCm39) T134A possibly damaging Het
Other mutations in Cbln2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Cbln2 APN 18 86,734,509 (GRCm39) nonsense probably null
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
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 2014-05-07