|Institutional Source||Beutler Lab|
|Gene Name||synaptonemal complex protein 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1585 (G1)|
|Chromosomal Location||178345293-178407685 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 178351668 bp|
|Amino Acid Change||Asparagine to Isoleucine at position 1228 (N1228I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000079909 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000081134]|
|Predicted Effect||possibly damaging
AA Change: N1228I
PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: N1228I
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||95% (81/85)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The synaptonemal complex is a proteinaceous structure that links homologous chromosomes during the prophase of meiosis. The protein encoded by this gene is a major component of the synaptonemal complex and may bind DNA at scaffold attachment regions. The encoded protein requires synaptonemal complex protein 3, but not 1, for inclusion in the synaptonemal complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male mice homozygous for a knock-out allele are sterile due to lack of axial element formation and subsequent failure of chromosome synapsis in prophase I spermatocytes, while females are subfertile with a sharply reduced litter size. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sycp2||
(F):5'- TGGCTAGAATGAggttgagaatacttgc -3'
(R):5'- GGCTACCCTTAACTGACTAAAAGAGCAC -3'
(F):5'- atctacttgcttctgcctcc -3'
(R):5'- AAATCAGAAATGTCAGAAATGTCAAG -3'