|Institutional Source||Beutler Lab|
|Gene Name||RIKEN cDNA D130043K22 gene|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2568 (G1)|
|Chromosomal Location||24845135-24901270 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 24883891 bp|
|Amino Acid Change||Threonine to Methionine at position 870 (T870M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006893 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006893] [ENSMUST00000141572]|
|Predicted Effect||probably damaging
AA Change: T870M
PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: T870M
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in a similar gene in human are associated with dyslexia. Alternatively spliced transcript variants have been identifed. [provided by RefSeq, May 2015]
PHENOTYPE: Homozygous knockout results in a mild behavioral phenotype: increased prepulse inhibition in males under certain conditions and decreased anxiety-related response. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in D130043K22Rik||
(F):5'- ATGAAAATCCTGTGTCCTCTCC -3'
(R):5'- AGTCCAGACAACTGTTTGGC -3'
(F):5'- CCCTCAGACCCCAAGAAGGATG -3'
(R):5'- TGTTTGGCTGATGAAAATTACAGAGG -3'