|Institutional Source||Beutler Lab|
|Gene Name||msh homeobox 2|
|Synonyms||Hox-8, Hox8, Hox8.1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0448 (G1)|
|Chromosomal Location||53466884-53473074 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 53468395 bp|
|Amino Acid Change||Arginine to Leucine at position 193 (R193L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021922 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021922]|
|Predicted Effect||probably damaging
AA Change: R193L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R193L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.608|
|Coding Region Coverage||
|Validation Efficiency||100% (74/74)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defective skull ossification with persistent calvarial foramen, alopecia, stubby and curly whiskers, seizures, and impaired development of teeth, cerebellum, and mammary gland. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Msx2||
(F):5'- ATCCATCCTGGAGTCTGGTCCATC -3'
(R):5'- AGTTTCATGACCTCATTACTCACGCTG -3'
(F):5'- CTTCCTTAGGATAGATGGTACATGC -3'
(R):5'- cacacacacacacacactc -3'