|Institutional Source||Beutler Lab|
|Gene Name||CXADR-like membrane protein|
|Is this an essential gene?||Probably non essential (E-score: 0.077)|
|Stock #||R6551 (G1)|
|Chromosomal Location||40685962-40785319 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 40771277 bp|
|Amino Acid Change||Valine to Alanine at position 119 (V119A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034522 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034522]|
|Predicted Effect||probably benign
AA Change: V119A
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: V119A
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0779|
|Coding Region Coverage||
|Validation Efficiency||100% (41/41)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I transmembrane protein that is localized to junctional complexes between endothelial and epithelial cells and may have a role in cell-cell adhesion. Expression of this gene in white adipose tissue is implicated in adipocyte maturation and development of obesity. This gene is also essential for normal intestinal development and mutations in the gene are associated with congenital short bowel syndrome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a targeted null allele exhibit reduced viability, bilateral hydronephrosis, increased mean systolic blood pressure, and exhibit several blood chemistry and neurological anomalies. Null mice are samller than controls. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Clmp||
(F):5'- TACGTATTCCAGCCGTCATG -3'
(R):5'- ATAGCACTTGAGATGCAGGC -3'
(F):5'- TGTCTACAATAACTTGACCGAGGAGC -3'
(R):5'- CTTTTAAGTCCAGCACTCAGGAGG -3'