|Institutional Source||Beutler Lab|
|Gene Name||SRY (sex determining region Y)-box 2|
|Synonyms||ysb, Sox-2, lcc|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7210 (G1)|
|Chromosomal Location||34650405-34652461 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 34651157 bp|
|Amino Acid Change||Serine to Proline at position 248 (S248P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000096755 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099151]|
|Predicted Effect||probably damaging
AA Change: S248P
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: S248P
|Coding Region Coverage||
|Validation Efficiency||100% (60/60)|
FUNCTION: This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in a similar gene in human have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (Sox2ot). [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations implant but fail to develop an egg cylinder or epiblast, and die shortly thereafter. Other mutations that affect only regulatory elements show circling behavior and deafness, inner ear defects, and a yellow coat color. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sox2||
(F):5'- TAAGTACACGCTTCCCGGAG -3'
(R):5'- TTCTCCAGTTCGCAGTCCAG -3'
(F):5'- GGCAGCTACAGCATGATGC -3'
(R):5'- AGTCCAGCCCTCACATGTG -3'