|Institutional Source||Beutler Lab|
|Gene Name||CD9 antigen|
|Is this an essential gene?||Possibly non essential (E-score: 0.270)|
|Stock #||R0472 (G1)|
|Chromosomal Location||125460266-125494791 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 125472433 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 49 (N49D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032492 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032492]|
|Predicted Effect||probably benign
AA Change: N49D
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: N49D
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.026|
|Coding Region Coverage||
|Validation Efficiency||97% (65/67)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Tetraspanins are cell surface glycoproteins with four transmembrane domains that form multimeric complexes with other cell surface proteins. The encoded protein functions in many cellular processes including differentiation, adhesion, and signal transduction, and expression of this gene plays a critical role in the suppression of cancer cell motility and metastasis. [provided by RefSeq, Jan 2011]
PHENOTYPE: Females homozygous for targeted null mutations are infertile due to lack of sperm-egg fusion. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cd9||
(F):5'- GGCATCCTTGCCAGACAACTTCAC -3'
(R):5'- AAGTCCTTTGCAGGTCTCCTCAGC -3'
(F):5'- TGGTCAAGATGCCAAACTCG -3'
(R):5'- CAGCATTTGTTGAGTGTGCTATCC -3'