|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: 0.110)|
|Stock #||R7398 (G1)|
|Chromosomal Location||68761514-68954397 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 68841354 bp|
|Amino Acid Change||Valine to Alanine at position 91 (V91A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030036 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030036]|
|Predicted Effect||probably benign
AA Change: V91A
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: V91A
|Coding Region Coverage||
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'- GATGGAATCATGGTTCAGTAGCTG -3'
(R):5'- CCCAGGGACCACAGTAATTCTC -3'
(F):5'- AATCATGGTTCAGTAGCTGCTGAC -3'
(R):5'- CAGCCTAGTCTGACTACATAGTGAG -3'