Incidental Mutation 'R1545:Brinp1'
ID 172095
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 039584-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R1545 (G1)
Quality Score 192
Status Not validated
Chromosome 4
Chromosomal Location 68679751-68872634 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68681192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 446 (L446P)
Ref Sequence ENSEMBL: ENSMUSP00000030036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030036]
AlphaFold Q920P3
Predicted Effect possibly damaging
Transcript: ENSMUST00000030036
AA Change: L446P

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030036
Gene: ENSMUSG00000028351
AA Change: L446P

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
MACPF 72 251 2.35e-46 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.6%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas C T 15: 102,247,641 (GRCm39) R410H probably damaging Het
Abca2 T C 2: 25,332,370 (GRCm39) C1468R probably benign Het
Actl9 T A 17: 33,652,231 (GRCm39) I97N probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Asb3 T A 11: 31,006,217 (GRCm39) M234K probably benign Het
Bax A C 7: 45,111,357 (GRCm39) H168Q probably null Het
Cdc14a A G 3: 116,087,373 (GRCm39) probably null Het
Cfap299 C A 5: 98,477,291 (GRCm39) Q27K probably benign Het
Cpq A T 15: 33,250,146 (GRCm39) I168F probably damaging Het
Crkl A T 16: 17,301,556 (GRCm39) N270I probably damaging Het
Cul7 G A 17: 46,962,479 (GRCm39) E37K probably damaging Het
Eps15 C T 4: 109,169,526 (GRCm39) T112I probably benign Het
F5 C T 1: 164,036,529 (GRCm39) R1897* probably null Het
Fbxl5 A T 5: 43,928,140 (GRCm39) L40Q probably damaging Het
Fhip1a C T 3: 85,573,261 (GRCm39) S896N probably damaging Het
Gprc5a C A 6: 135,060,459 (GRCm39) T316K probably damaging Het
Hectd4 T A 5: 121,462,019 (GRCm39) L2299Q possibly damaging Het
Khdc3 C G 9: 73,010,942 (GRCm39) P240R probably benign Het
Kif20b A G 19: 34,906,318 (GRCm39) T69A probably damaging Het
Kptn C G 7: 15,857,888 (GRCm39) Q239E probably benign Het
Lep T C 6: 29,070,831 (GRCm39) S52P probably damaging Het
Lrig3 G A 10: 125,844,416 (GRCm39) V627M possibly damaging Het
Lrrc37 T C 11: 103,499,745 (GRCm39) K615E probably benign Het
Mdga1 G A 17: 30,061,876 (GRCm39) R792C probably damaging Het
Mink1 T C 11: 70,489,717 (GRCm39) V58A possibly damaging Het
Neu1 G A 17: 35,153,374 (GRCm39) R299Q probably benign Het
Nrg3 T A 14: 38,129,111 (GRCm39) I375F probably benign Het
Nup50 A G 15: 84,823,993 (GRCm39) T449A possibly damaging Het
Nup98 A G 7: 101,784,087 (GRCm39) S1082P possibly damaging Het
Or8b1b C A 9: 38,375,815 (GRCm39) H159Q probably benign Het
Otub1 T C 19: 7,176,571 (GRCm39) I188V probably benign Het
Pcdhac2 T C 18: 37,279,186 (GRCm39) I722T possibly damaging Het
Pcsk7 T A 9: 45,825,646 (GRCm39) D292E probably damaging Het
Peli2 T A 14: 48,490,174 (GRCm39) D215E probably benign Het
Ppp1r9a T C 6: 5,156,242 (GRCm39) probably null Het
Ppp2r1b A G 9: 50,773,725 (GRCm39) K136R possibly damaging Het
Prpf3 T C 3: 95,755,115 (GRCm39) K157E probably damaging Het
Prss50 T C 9: 110,690,336 (GRCm39) S160P probably damaging Het
Ptprb T C 10: 116,216,774 (GRCm39) V2251A probably damaging Het
Rgs6 G A 12: 83,162,951 (GRCm39) E386K probably damaging Het
Rida A G 15: 34,495,250 (GRCm39) I5T probably benign Het
Rpe A G 1: 66,740,169 (GRCm39) H35R probably damaging Het
Sema4b T A 7: 79,868,771 (GRCm39) D321E probably benign Het
Slc22a13 G A 9: 119,038,113 (GRCm39) A5V probably benign Het
Snta1 C T 2: 154,218,926 (GRCm39) probably null Het
Spdye4c T A 2: 128,437,632 (GRCm39) N220K probably benign Het
Sult1c2 G T 17: 54,269,176 (GRCm39) A280E possibly damaging Het
Tfr2 A G 5: 137,581,561 (GRCm39) E579G probably benign Het
Tmem221 A G 8: 72,011,182 (GRCm39) L91P probably damaging Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Vmn1r17 A G 6: 57,338,317 (GRCm39) V16A probably benign Het
Vmn1r188 A G 13: 22,272,603 (GRCm39) R186G probably damaging Het
Wfikkn1 A G 17: 26,097,565 (GRCm39) V253A 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
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
Predicted Primers PCR Primer
(F):5'- ACGCATGGACATTCCGATCACC -3'
(R):5'- CAGGACAATTCAACAGTGGCTTGC -3'

Sequencing Primer
(F):5'- CAGGCGAATCTCATTGCTG -3'
(R):5'- TGCAAGGGTCCAGTCACTTC -3'
Posted On 2014-04-13