|Institutional Source||Beutler Lab|
|Gene Name||ELKS/RAB6-interacting/CAST family member 2|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R9130 (G1)|
|Chromosomal Location||27622428-28478537 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 28029461 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Histidine at position 705 (Y705H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000147981 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000090302] [ENSMUST00000210135] [ENSMUST00000210924] [ENSMUST00000211145]|
AA Change: Y705H
PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|Coding Region Coverage||
|Validation Efficiency||99% (87/88)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the Rab3-interacting molecule (RIM)-binding protein family. Members of this protein family form part of the cytomatrix at the active zone (CAZ) complex and function as regulators of neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for targeted disruptions of this gene are viable and fertile. However, homozygotes for one allele display abnormal CNS synaptic transmission. Homozygotes for a second allele display retinal abnormalities and impaired vision. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Erc2||
(F):5'- GCCTTTCACTTTCACTGTGGAATG -3'
(R):5'- AAATGGCATCGGCTTTGCG -3'
(F):5'- AAAACTGAAATTTCTCCTTCTTCTCC -3'
(R):5'- CGCAGATCATTCCTTTTGGCAGAG -3'