Incidental Mutation 'R4542:Brinp1'
ID 333569
Institutional Source Beutler Lab
Gene Symbol Brinp1
Ensembl Gene ENSMUSG00000028351
Gene Name bone morphogenic protein/retinoic acid inducible neural specific 1
Synonyms Fam5a, Dbc1, Dbccr1
MMRRC Submission 041593-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R4542 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 68679751-68872634 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68680329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 734 (I734V)
Ref Sequence ENSEMBL: ENSMUSP00000030036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030036]
AlphaFold Q920P3
Predicted Effect probably benign
Transcript: ENSMUST00000030036
AA Change: I734V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030036
Gene: ENSMUSG00000028351
AA Change: I734V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
MACPF 72 251 2.35e-46 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,163,875 (GRCm39) L833Q probably damaging Het
Adcy6 C G 15: 98,496,869 (GRCm39) V469L possibly damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bean1 T A 8: 104,937,591 (GRCm39) F57I probably damaging Het
Cab39l C A 14: 59,734,351 (GRCm39) D23E probably benign Het
Cfap54 T C 10: 92,860,991 (GRCm39) T839A probably benign Het
Clgn A G 8: 84,146,838 (GRCm39) E297G probably damaging Het
Crip1 A G 12: 113,117,109 (GRCm39) Y108C probably damaging Het
Cxcr2 A G 1: 74,197,688 (GRCm39) S61G probably benign Het
Dph5 T C 3: 115,722,274 (GRCm39) S251P probably damaging Het
E2f7 T A 10: 110,602,984 (GRCm39) V333E probably damaging Het
Eif4g3 A G 4: 137,930,728 (GRCm39) D918G probably damaging Het
Epn1 A G 7: 5,096,980 (GRCm39) E254G possibly damaging Het
Fat1 T C 8: 45,494,931 (GRCm39) C4065R probably damaging Het
Gja1 T C 10: 56,264,148 (GRCm39) F169S probably damaging Het
Kmt2b A G 7: 30,279,684 (GRCm39) I1384T probably damaging Het
Ltbp2 A T 12: 84,878,593 (GRCm39) L302* probably null Het
Nalcn T C 14: 123,558,889 (GRCm39) silent Het
Nlrp1b A C 11: 71,119,151 (GRCm39) L48W probably damaging Het
Nlrp4c G A 7: 6,103,826 (GRCm39) W920* probably null Het
Nr2f1 C T 13: 78,337,940 (GRCm39) G235D probably damaging Het
Nt5dc2 T A 14: 30,860,095 (GRCm39) D374E probably benign Het
Or2d3 GAACAACAACAA GAACAACAA 7: 106,490,567 (GRCm39) probably benign Het
Or51e2 T C 7: 102,391,850 (GRCm39) D120G probably damaging Het
Or5ak23 T C 2: 85,244,287 (GRCm39) D312G probably benign Het
Pikfyve T C 1: 65,283,589 (GRCm39) I742T probably damaging Het
Rftn1 A G 17: 50,362,259 (GRCm39) probably null Het
Rfx1 G A 8: 84,816,866 (GRCm39) G466S probably damaging Het
Scn11a A T 9: 119,584,200 (GRCm39) S1472T probably damaging Het
Sh2d4a A G 8: 68,799,394 (GRCm39) Q421R probably benign Het
Slc25a10 G A 11: 120,388,807 (GRCm39) probably null Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Spen T C 4: 141,204,097 (GRCm39) Y1510C unknown Het
Ssu72 A G 4: 155,817,934 (GRCm39) Q163R probably benign Het
Stau1 A G 2: 166,795,181 (GRCm39) Y223H probably damaging Het
Syne3 A T 12: 104,935,503 (GRCm39) S92T probably benign Het
Ulbp1 T C 10: 7,406,570 (GRCm39) D45G probably damaging Het
Ulk4 G A 9: 121,092,704 (GRCm39) R178* probably null Het
Vmn1r67 A G 7: 10,181,357 (GRCm39) Y207C probably damaging Het
Vmn2r59 T C 7: 41,695,497 (GRCm39) D305G possibly damaging Het
Zbtb18 A G 1: 177,276,232 (GRCm39) K522E probably damaging Het
Other mutations in Brinp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Brinp1 APN 4 68,681,084 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACACGTTAGCTTCCAACAAATG -3'
(R):5'- AGTCCTATACACAGGGTGGTC -3'

Sequencing Primer
(F):5'- ATTTTACAAATTTGTGTATGCGTGTG -3'
(R):5'- CCTATACACAGGGTGGTCAGTTC -3'
Posted On 2015-08-18