Incidental Mutation 'IGL00818:Brinp1'
ID 10066
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brinp1
Ensembl Gene ENSMUSG00000028351
Gene Name bone morphogenic protein/retinoic acid inducible neural specific 1
Synonyms Fam5a, Dbc1, Dbccr1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # IGL00818
Quality Score
Status
Chromosome 4
Chromosomal Location 68679751-68872634 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68681084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 482 (D482V)
Ref Sequence ENSEMBL: ENSMUSP00000030036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030036]
AlphaFold Q920P3
Predicted Effect probably damaging
Transcript: ENSMUST00000030036
AA Change: D482V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030036
Gene: ENSMUSG00000028351
AA Change: D482V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
MACPF 72 251 2.35e-46 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,259,475 (GRCm39) T700A probably benign Het
Cmtr2 A T 8: 110,949,732 (GRCm39) T681S probably benign Het
Dcc T A 18: 72,088,083 (GRCm39) M52L probably benign Het
Echdc1 A G 10: 29,193,616 (GRCm39) I38V probably benign Het
Gars1 G T 6: 55,027,338 (GRCm39) G144V probably damaging Het
Gp2 T C 7: 119,049,350 (GRCm39) T396A possibly damaging Het
Gpatch1 T C 7: 34,976,238 (GRCm39) probably null Het
Mfap4 A T 11: 61,378,607 (GRCm39) Q209L possibly damaging Het
Pdcd2l A T 7: 33,884,158 (GRCm39) M348K possibly damaging Het
Prkdc A T 16: 15,577,618 (GRCm39) T2391S possibly damaging Het
Rxrg C T 1: 167,454,857 (GRCm39) probably benign Het
Serpinb2 A G 1: 107,452,466 (GRCm39) D348G probably benign Het
Tbc1d30 G A 10: 121,102,729 (GRCm39) probably benign Het
Tmtc3 T A 10: 100,307,342 (GRCm39) T221S probably benign Het
Tro C T X: 149,431,357 (GRCm39) G1203D probably damaging Het
Ttn T A 2: 76,552,092 (GRCm39) T31182S probably damaging Het
Zranb3 T C 1: 127,960,604 (GRCm39) Y220C probably damaging Het
Other mutations in Brinp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Brinp1 APN 4 68,680,731 (GRCm39) missense probably damaging 1.00
IGL02048:Brinp1 APN 4 68,681,379 (GRCm39) missense probably benign
IGL02115:Brinp1 APN 4 68,680,635 (GRCm39) missense probably benign 0.03
IGL02332:Brinp1 APN 4 68,823,121 (GRCm39) missense probably benign 0.00
IGL03115:Brinp1 APN 4 68,822,973 (GRCm39) critical splice donor site probably null
IGL02796:Brinp1 UTSW 4 68,680,427 (GRCm39) missense probably damaging 1.00
R0382:Brinp1 UTSW 4 68,680,545 (GRCm39) missense possibly damaging 0.68
R0468:Brinp1 UTSW 4 68,681,013 (GRCm39) missense probably damaging 1.00
R1141:Brinp1 UTSW 4 68,711,215 (GRCm39) missense probably benign 0.00
R1164:Brinp1 UTSW 4 68,716,928 (GRCm39) missense probably benign
R1178:Brinp1 UTSW 4 68,680,790 (GRCm39) missense probably damaging 1.00
R1545:Brinp1 UTSW 4 68,681,192 (GRCm39) missense possibly damaging 0.67
R1672:Brinp1 UTSW 4 68,747,520 (GRCm39) splice site probably null
R1998:Brinp1 UTSW 4 68,680,790 (GRCm39) missense probably damaging 1.00
R2218:Brinp1 UTSW 4 68,680,952 (GRCm39) missense probably damaging 1.00
R2262:Brinp1 UTSW 4 68,747,591 (GRCm39) missense probably damaging 1.00
R2370:Brinp1 UTSW 4 68,681,184 (GRCm39) missense probably damaging 1.00
R4542:Brinp1 UTSW 4 68,680,329 (GRCm39) missense probably benign 0.00
R4617:Brinp1 UTSW 4 68,681,198 (GRCm39) missense possibly damaging 0.94
R4864:Brinp1 UTSW 4 68,717,123 (GRCm39) missense probably damaging 1.00
R5287:Brinp1 UTSW 4 68,711,201 (GRCm39) missense probably benign 0.04
R5403:Brinp1 UTSW 4 68,711,201 (GRCm39) missense probably benign 0.04
R5932:Brinp1 UTSW 4 68,711,178 (GRCm39) missense probably benign 0.00
R7106:Brinp1 UTSW 4 68,747,615 (GRCm39) missense probably benign 0.36
R7127:Brinp1 UTSW 4 68,711,260 (GRCm39) missense probably benign 0.00
R7398:Brinp1 UTSW 4 68,759,591 (GRCm39) missense probably benign
R7917:Brinp1 UTSW 4 68,823,190 (GRCm39) start codon destroyed probably null 0.04
R8164:Brinp1 UTSW 4 68,681,158 (GRCm39) nonsense probably null
R8369:Brinp1 UTSW 4 68,716,936 (GRCm39) missense possibly damaging 0.86
R8487:Brinp1 UTSW 4 68,747,692 (GRCm39) missense probably damaging 1.00
R9124:Brinp1 UTSW 4 68,747,582 (GRCm39) missense probably damaging 1.00
R9253:Brinp1 UTSW 4 68,711,083 (GRCm39) missense possibly damaging 0.86
Z1176:Brinp1 UTSW 4 68,716,988 (GRCm39) nonsense probably null
Posted On 2012-12-06