|Institutional Source||Beutler Lab|
|Gene Name||cerebellin 4 precursor protein|
|Is this an essential gene?||Possibly non essential (E-score: 0.274)|
|Stock #||R1035 (G1)|
|Chromosomal Location||172036233-172043466 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 172042069 bp|
|Amino Acid Change||Asparagine to Serine at position 77 (N77S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000085263 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000087950]|
|Predicted Effect||possibly damaging
AA Change: N77S
PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: N77S
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1139|
|Coding Region Coverage||
|Validation Efficiency||97% (36/37)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of small secreted proteins containing C1Q domains. Members of this family are involved in regulation of neurexin signalling during synapse development. The mouse homolog of the protein encoded by this gene competes with netrin to bind to the deleted in colorectal cancer receptor. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no abnormal phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cbln4||
(F):5'- AGTATTCCCTTCAGCCCCTGATGAC -3'
(R):5'- CCAGCCGTTCTGCTGATTCTAGTG -3'
(F):5'- GCAGCTCTGAGTTTCAAACTG -3'
(R):5'- TGCTGATTCTAGTGCTGCC -3'