|Institutional Source||Beutler Lab|
|Gene Name||bone morphogenic protein/retinoic acid inducible neural specific 1|
|Synonyms||Dbc1, Dbccr1, Fam5a|
|Is this an essential gene?||Probably non essential (E-score: 0.084)|
|Stock #||R4864 (G1)|
|Chromosomal Location||68761514-68954397 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 68798886 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 242 (F242L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030036 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030036]|
|Predicted Effect||probably damaging
AA Change: F242L
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: F242L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2420|
|Coding Region Coverage||
|Validation Efficiency||99% (93/94)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show increased adult neurogenesis in the subgranular zone of the dentate gyrus, altered neuronal differentiation in the hippocampus, and behavioral anomalies such as hyperactivity, reduced anxiety-like behaviors, poor social interaction, and a slight deficit in working memory. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Brinp1||
(F):5'- CTTATAAGCTTCAGTCCAGGCC -3'
(R):5'- TATAAGCGATGCAACTGAAGGC -3'
(F):5'- CCAGGCCTTGGCCATGTTTG -3'
(R):5'- GCAACTGAAGGCTCCACATTTTG -3'