Incidental Mutation 'R1178:Brinp1'
ID100128
Institutional Source Beutler Lab
Gene Symbol Brinp1
Ensembl Gene ENSMUSG00000028351
Gene Namebone morphogenic protein/retinoic acid inducible neural specific 1
SynonymsDbc1, Dbccr1, Fam5a
MMRRC Submission 039250-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #R1178 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location68761514-68954397 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 68762553 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Glutamic Acid at position 580 (G580E)
Ref Sequence ENSEMBL: ENSMUSP00000030036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030036]
Predicted Effect probably damaging
Transcript: ENSMUST00000030036
AA Change: G580E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030036
Gene: ENSMUSG00000028351
AA Change: G580E

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
MACPF 72 251 2.35e-46 SMART
Meta Mutation Damage Score 0.1593 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.5%
Validation Efficiency 98% (51/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G T 13: 81,440,037 probably benign Het
Apcdd1 A T 18: 62,937,097 Y145F probably damaging Het
Cep128 G A 12: 91,260,155 T227M probably damaging Het
Cxcr2 A T 1: 74,158,368 D7V probably benign Het
Dync2h1 C T 9: 7,101,193 probably benign Het
Eps8 T C 6: 137,522,854 Q209R possibly damaging Het
Gabrg3 C T 7: 56,735,091 V241I probably benign Het
Gfpt2 T C 11: 49,823,309 S298P probably benign Het
Gm14685 G T X: 73,127,655 G218C probably damaging Het
Gm6797 T A X: 8,641,765 noncoding transcript Het
Gp1ba C T 11: 70,641,427 P673L probably damaging Het
Heatr5b A G 17: 78,813,269 L742P probably damaging Het
Hgd A G 16: 37,615,394 I115V possibly damaging Het
Hmgcll1 A T 9: 76,130,331 D169V probably damaging Het
Ifi202b A T 1: 173,972,222 I231K probably benign Het
Itpripl1 A G 2: 127,141,899 I101T probably benign Het
Kcnj9 A G 1: 172,322,963 V361A probably benign Het
Map4k5 G A 12: 69,816,378 T567M probably damaging Het
Ncapd3 A G 9: 27,041,421 D82G probably benign Het
Nupl1 A T 14: 60,244,670 probably benign Het
Olfr1155 G A 2: 87,943,146 L161F probably benign Het
Olfr150 A G 9: 39,737,346 Y177C probably damaging Het
Olfr926 A G 9: 38,877,755 E193G probably damaging Het
Pfn2 C T 3: 57,845,345 V3I probably benign Het
Pirb A T 7: 3,717,638 L287Q probably benign Het
Pkhd1 C T 1: 20,585,157 probably null Het
Plekha2 A C 8: 25,059,202 S189A probably benign Het
Prune2 T C 19: 17,123,105 V1991A probably benign Het
Psg17 T C 7: 18,814,455 T464A probably benign Het
Rab8b A G 9: 66,852,967 M125T possibly damaging Het
Rbl1 T A 2: 157,147,655 M1015L possibly damaging Het
Ryr3 T A 2: 112,964,380 Q149L probably benign Het
Scn2a C A 2: 65,686,779 probably benign Het
Sec61g A C 11: 16,504,722 probably benign Het
Smcr8 G A 11: 60,779,532 R502H probably damaging Het
Spag16 G A 1: 69,923,658 probably benign Het
Spink13 A G 18: 62,608,170 probably benign Het
Stk25 T C 1: 93,623,389 probably benign Het
Syngap1 A G 17: 26,957,805 N314D probably damaging Het
Tek T C 4: 94,804,287 C160R probably damaging Het
Tenm2 C T 11: 36,063,177 G1236R possibly damaging Het
Tll2 T G 19: 41,092,847 D712A probably damaging Het
Tmprss13 A T 9: 45,328,647 R84S unknown Het
Ttn A T 2: 76,969,703 I387N probably damaging Het
Ubr1 T A 2: 120,926,029 K706* probably null Het
Upk2 A T 9: 44,454,173 S33T probably benign Het
Usp47 T G 7: 112,109,998 M1317R possibly damaging Het
Wdr19 T C 5: 65,223,865 Y411H probably damaging Het
Zfp143 C T 7: 110,075,721 probably benign Het
Zfp473 T C 7: 44,734,594 D105G probably benign Het
Zfp474 C T 18: 52,638,742 Q156* probably null Het
Other mutations in Brinp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Brinp1 APN 4 68762847 missense probably damaging 1.00
IGL01024:Brinp1 APN 4 68762494 missense probably damaging 1.00
IGL02048:Brinp1 APN 4 68763142 missense probably benign
IGL02115:Brinp1 APN 4 68762398 missense probably benign 0.03
IGL02332:Brinp1 APN 4 68904884 missense probably benign 0.00
IGL03115:Brinp1 APN 4 68904736 critical splice donor site probably null
IGL02796:Brinp1 UTSW 4 68762190 missense probably damaging 1.00
R0382:Brinp1 UTSW 4 68762308 missense possibly damaging 0.68
R0468:Brinp1 UTSW 4 68762776 missense probably damaging 1.00
R1141:Brinp1 UTSW 4 68792978 missense probably benign 0.00
R1164:Brinp1 UTSW 4 68798691 missense probably benign
R1545:Brinp1 UTSW 4 68762955 missense possibly damaging 0.67
R1672:Brinp1 UTSW 4 68829283 splice site probably null
R1998:Brinp1 UTSW 4 68762553 missense probably damaging 1.00
R2218:Brinp1 UTSW 4 68762715 missense probably damaging 1.00
R2262:Brinp1 UTSW 4 68829354 missense probably damaging 1.00
R2370:Brinp1 UTSW 4 68762947 missense probably damaging 1.00
R4542:Brinp1 UTSW 4 68762092 missense probably benign 0.00
R4617:Brinp1 UTSW 4 68762961 missense possibly damaging 0.94
R4864:Brinp1 UTSW 4 68798886 missense probably damaging 1.00
R5287:Brinp1 UTSW 4 68792964 missense probably benign 0.04
R5403:Brinp1 UTSW 4 68792964 missense probably benign 0.04
R5932:Brinp1 UTSW 4 68792941 missense probably benign 0.00
R7106:Brinp1 UTSW 4 68829378 missense probably benign 0.36
R7127:Brinp1 UTSW 4 68793023 missense probably benign 0.00
R7398:Brinp1 UTSW 4 68841354 missense probably benign
Predicted Primers
Posted On2014-01-15