|Institutional Source||Beutler Lab|
|Is this an essential gene?||Possibly essential (E-score: 0.721)|
|Stock #||R1636 (G1)|
|Chromosomal Location||62346569-62350262 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 62348508 bp|
|Amino Acid Change||Proline to Leucine at position 34 (P34L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045369 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038775]|
|Predicted Effect||probably benign
AA Change: P34L
PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
AA Change: P34L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.026|
|Coding Region Coverage||
|Validation Efficiency||96% (85/89)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene is located in the Prader-Willi syndrome deletion region. It is an imprinted gene and is expressed exclusively from the paternal allele. Studies in mouse suggest that the protein encoded by this gene may suppress growth in postmitotic neurons. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal lethality, cyanosis and respiratory distress. Mice heterozygous for a knock-out allele exhibit abnormal behavior, abnormal nervous system morphology and physiology and, when inherited maternally, postnatal lethality with cyanosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ndn||
(F):5'- AAGGCGCAGTGCTCAGTAAAGC -3'
(R):5'- CATGTCTGGAAACCAGAGGACCATC -3'
(F):5'- GTGCTCAGTAAAGCGCACTTC -3'
(R):5'- TGGTCCTTCACCAACACG -3'