|Institutional Source||Beutler Lab|
|Synonyms||2610028H22Rik, D930014N22Rik, Igdcc2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5473 (G1)|
|Chromosomal Location||58874687-59036441 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 58880843 bp|
|Amino Acid Change||Asparagine to Serine at position 1309 (N1309S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000150600 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000068664] [ENSMUST00000214547]|
|Predicted Effect||probably benign
AA Change: N1336S
PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
AA Change: N1336S
|Predicted Effect||possibly damaging
AA Change: N1309S
PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|Meta Mutation Damage Score||0.074|
|Coding Region Coverage||
|Validation Efficiency||100% (66/66)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface protein that is a member of the immunoglobulin superfamily. The encoded protein consists of four N-terminal immunoglobulin-like domains, six fibronectin type III domains, a transmembrane domain and a C-terminal internal domain that shares homology with the tumor suppressor candidate gene DCC. This protein may be involved in cell growth and differentiation and in cell-cell adhesion. Defects in this gene are associated with cell proliferation in certain cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a gene trap allele display perinatal lethality and abnormal trigeminal nerve development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Neo1||
(F):5'- ACAGTAATGGTGTGCTTGGCAG -3'
(R):5'- ATTCTTAGCCTTGGCTGTCG -3'
(F):5'- CTTGGCAGTGCAGGATCATAG -3'
(R):5'- GCTGTCGTCCTGATCCGTG -3'