|Institutional Source||Beutler Lab|
|Synonyms||2610028H22Rik, D930014N22Rik, Igdcc2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6560 (G1)|
|Chromosomal Location||58874687-59036441 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 58880601 bp|
|Amino Acid Change||Serine to Proline at position 1417 (S1417P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000063656 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000068664] [ENSMUST00000214547]|
|Predicted Effect||possibly damaging
AA Change: S1417P
PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: S1417P
|Predicted Effect||probably benign
AA Change: S1390P
PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|Coding Region Coverage||
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'- ACACAGAGCTTCTCTAAGTTGC -3'
(R):5'- CTGGAAGTAGCCACAACTGC -3'
(F):5'- TTAATCCTAGCACTCAGGAGGCTG -3'
(R):5'- TCTCAGACGTGCTGCACTGAC -3'