|Institutional Source||Beutler Lab|
|Gene Name||doublesex and mab-3 related transcription factor 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0352 (G1)|
|Chromosomal Location||25672420-25679010 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 25678662 bp|
|Amino Acid Change||Serine to Proline at position 542 (S542P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000059654 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000053068]|
|Predicted Effect||probably damaging
AA Change: S542P
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: S542P
|Meta Mutation Damage Score||0.032|
|Coding Region Coverage||
|Validation Efficiency||100% (70/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila 'doublesex' (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display perinatal lethality due to breathing difficulties, multiple axial skeletal defects including kinked tails and rib and vertebral malformations, and abnormal somite organization. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dmrt2||
(F):5'- CCTGAGTTGAACGCACCATTTGTC -3'
(R):5'- GCACAGACCCTTACAATTTGCACAG -3'
(F):5'- TGAACGCACCATTTGTCAAAGAAG -3'
(R):5'- AGCAGCCCTTTACTGAGAGA -3'