|Institutional Source||Beutler Lab|
|Gene Name||transmembrane protein with EGF-like and two follistatin-like domains 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8301 (G1)|
|Chromosomal Location||50900647-51187270 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 51181837 bp (GRCm38)|
|Amino Acid Change||Alanine to Serine at position 324 (A324S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000080533 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000081851]|
AA Change: A324S
PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
AA Change: A324S
|Meta Mutation Damage Score||0.0721|
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tomoregulin family of transmembrane proteins. This protein has been shown to function as both an oncogene and a tumor suppressor depending on the cellular context and may regulate prostate cancer cell invasion. Multiple soluble forms of this protein have been identified that arise from both an alternative splice variant and ectodomain shedding. Additionally, this gene has been found to be hypermethylated in multiple cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a reporter allele display slow postnatal weight gain, decreased white adipose tissue amount, and complete lethality at weaning. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tmeff2||
(F):5'- TCAACATTTCTCGAACATTGGC -3'
(R):5'- TGATGAGCTAGGACTCATGGAG -3'
(F):5'- TTTCTCGAACATTGGCATATAAAATG -3'
(R):5'- GAAGGGATGGGAGCAGTTAATTCAC -3'