Incidental Mutation 'R5287:Brinp1'
ID424395
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 042871-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.123) question?
Stock #R5287 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location68761514-68954397 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 68792964 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 336 (W336R)
Ref Sequence ENSEMBL: ENSMUSP00000030036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030036]
Predicted Effect probably benign
Transcript: ENSMUST00000030036
AA Change: W336R

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000030036
Gene: ENSMUSG00000028351
AA Change: W336R

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
MACPF 72 251 2.35e-46 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156773
Meta Mutation Damage Score 0.106 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (56/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik G T 17: 56,876,221 probably benign Het
Accs T C 2: 93,835,953 D463G probably damaging Het
Adcy8 C T 15: 64,716,152 V929I probably benign Het
Anp32a A T 9: 62,341,993 I16F possibly damaging Het
Arpin T C 7: 79,928,249 E144G probably damaging Het
Asb18 T C 1: 90,014,388 T64A probably benign Het
Asxl2 A G 12: 3,496,893 N559S probably benign Het
Brd7 G T 8: 88,357,541 Q148K probably damaging Het
Btnl9 A G 11: 49,169,607 V438A probably benign Het
Cat T C 2: 103,474,360 T107A probably damaging Het
Catsperg2 T C 7: 29,697,838 Y1080C possibly damaging Het
Ccdc138 T A 10: 58,575,705 F632I possibly damaging Het
Cd46 C T 1: 195,062,411 V340I possibly damaging Het
Celf1 T C 2: 91,009,207 S326P possibly damaging Het
Ces1e T G 8: 93,208,612 D404A probably benign Het
Chd3 A T 11: 69,349,069 probably null Het
Clhc1 A G 11: 29,578,244 probably benign Het
Cops8 C T 1: 90,606,620 probably benign Het
Cpox G A 16: 58,675,286 G322D probably damaging Het
Csmd2 C T 4: 128,486,884 R2078C probably benign Het
Dnm1l A C 16: 16,333,868 V240G probably damaging Het
Fam109a A G 5: 121,852,731 E52G possibly damaging Het
Fam196b A T 11: 34,403,058 T367S probably benign Het
Fam208b G A 13: 3,575,744 S1402L probably benign Het
Fezf1 C T 6: 23,248,011 V22M probably benign Het
Gm6818 T G 7: 38,400,487 noncoding transcript Het
Hand2 C T 8: 57,322,045 L47F probably damaging Het
Itga7 C A 10: 128,943,158 R351S probably benign Het
Mmp8 G T 9: 7,567,506 A456S probably benign Het
Mroh5 TGGAG TG 15: 73,783,074 probably benign Het
Olfr1416 A T 1: 92,480,297 V108E possibly damaging Het
Opn4 T C 14: 34,592,937 T460A probably benign Het
Otog T C 7: 46,269,329 F943S probably damaging Het
Pcnx A T 12: 81,982,051 Y1668F probably damaging Het
Phf24 A T 4: 42,933,831 probably null Het
Phkg2 GCTGCCGGACGAGTGGCCT GCT 7: 127,582,757 probably null Het
Ppargc1a G A 5: 51,462,825 probably benign Het
Ptprd G A 4: 75,954,168 R1355* probably null Het
Ptprn2 A T 12: 117,211,862 M721L probably damaging Het
Sec23ip A G 7: 128,766,136 E624G probably benign Het
Sfmbt1 G A 14: 30,816,820 V799M probably damaging Het
Snrnp200 T C 2: 127,231,687 V1335A probably benign Het
Sp140 G A 1: 85,610,824 probably null Het
Spdye4c T C 2: 128,592,640 S46P possibly damaging Het
Syde1 T C 10: 78,590,037 R99G probably benign Het
T2 A T 17: 8,418,003 M57L probably benign Het
Tfap2e T C 4: 126,734,646 I172M probably benign Het
Tk1 A T 11: 117,816,541 V140E probably damaging Het
Tln2 G A 9: 67,242,359 T1192M probably damaging Het
Tmed8 C A 12: 87,174,183 A210S probably damaging Het
Tnip2 A G 5: 34,513,764 L45P probably damaging Het
Ttc3 T C 16: 94,459,844 V1396A probably benign Het
Ttn G T 2: 76,732,092 S28803Y probably damaging Het
Wdr90 A T 17: 25,861,467 probably benign Het
Zfp7 G A 15: 76,891,222 R488Q probably damaging 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
R1178:Brinp1 UTSW 4 68762553 missense probably damaging 1.00
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
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 PCR Primer
(F):5'- ACGTCCCACTGTTTCAGAAGAATG -3'
(R):5'- AGGGATAAGTGAGAACCAAATCTTT -3'

Sequencing Primer
(F):5'- CCCACTGTTTCAGAAGAATGTGCTG -3'
(R):5'- CTTTAAACAGACCTGCAGATGGTG -3'
Posted On2016-08-04