Incidental Mutation 'R3942:Brinp3'
ID 312891
Institutional Source Beutler Lab
Gene Symbol Brinp3
Ensembl Gene ENSMUSG00000035131
Gene Name bone morphogenetic protein/retinoic acid inducible neural specific 3
Synonyms Fam5c, B830045N13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R3942 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 146371367-146778210 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 146627599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 277 (D277E)
Ref Sequence ENSEMBL: ENSMUSP00000126074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074622] [ENSMUST00000128345] [ENSMUST00000132847] [ENSMUST00000166814]
AlphaFold Q499E0
Predicted Effect probably damaging
Transcript: ENSMUST00000074622
AA Change: D277E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074201
Gene: ENSMUSG00000035131
AA Change: D277E

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
MACPF 78 264 7.69e-42 SMART
low complexity region 315 326 N/A INTRINSIC
coiled coil region 349 372 N/A INTRINSIC
EGF 440 475 1.73e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128345
SMART Domains Protein: ENSMUSP00000116763
Gene: ENSMUSG00000035131

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132847
SMART Domains Protein: ENSMUSP00000118552
Gene: ENSMUSG00000035131

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Blast:MACPF 78 110 1e-16 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000166814
AA Change: D277E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126074
Gene: ENSMUSG00000035131
AA Change: D277E

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
MACPF 78 264 7.69e-42 SMART
low complexity region 315 326 N/A INTRINSIC
coiled coil region 349 372 N/A INTRINSIC
EGF 440 475 1.73e1 SMART
Meta Mutation Damage Score 0.1478 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is overexpressed in pituitary tumors but is underexpressed in tongue squamous cell carcinomas, ulcerative colitis, and peri-implantitis. Polymorphisms that increase expression of this gene have been shown to increase vascular inflammation, and an association of this gene with myocardial infarction has been demonstrated. Finally, hypermethylation of this gene may find usefulness as a biomarker for gastric cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,330,908 (GRCm39) N6049S probably damaging Het
Aph1a C T 3: 95,801,573 (GRCm39) R31W probably damaging Het
Atp10b T C 11: 43,063,581 (GRCm39) V172A probably damaging Het
Atp13a2 T C 4: 140,733,733 (GRCm39) S1041P probably damaging Het
Best3 T A 10: 116,824,579 (GRCm39) F15Y possibly damaging Het
Crb1 A C 1: 139,265,211 (GRCm39) L69R possibly damaging Het
Crcp T C 5: 130,063,791 (GRCm39) probably null Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Hps3 T C 3: 20,051,103 (GRCm39) Y859C probably damaging Het
Irx5 C A 8: 93,086,314 (GRCm39) N132K probably damaging Het
Itgb2 A G 10: 77,393,867 (GRCm39) T436A probably benign Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Krt12 A G 11: 99,312,922 (GRCm39) S41P unknown Het
Lypd6b G T 2: 49,833,552 (GRCm39) S64I probably damaging Het
Mpc1 T A 17: 8,507,420 (GRCm39) probably null Het
Or4c109 T A 2: 88,818,455 (GRCm39) L30F probably benign Het
Or5b95 A T 19: 12,657,768 (GRCm39) M99L probably benign Het
Pard3b T A 1: 62,198,611 (GRCm39) I233N probably damaging Het
Pcdh1 A G 18: 38,332,511 (GRCm39) V164A probably benign Het
Pclo A G 5: 14,729,932 (GRCm39) probably benign Het
Pkhd1l1 T C 15: 44,455,422 (GRCm39) probably null Het
Slco1a7 A G 6: 141,673,440 (GRCm39) I366T probably damaging Het
Spata31d1d T C 13: 59,875,276 (GRCm39) Q753R probably benign Het
Stxbp6 A G 12: 44,949,641 (GRCm39) probably null Het
Trav6-5 T C 14: 53,728,838 (GRCm39) S32P probably benign Het
Zp3r A C 1: 130,504,791 (GRCm39) D470E possibly damaging Het
Other mutations in Brinp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Brinp3 APN 1 146,777,512 (GRCm39) missense probably damaging 0.99
IGL00503:Brinp3 APN 1 146,776,905 (GRCm39) missense probably benign
IGL01702:Brinp3 APN 1 146,627,735 (GRCm39) splice site probably benign
IGL01728:Brinp3 APN 1 146,707,289 (GRCm39) splice site probably null
IGL01733:Brinp3 APN 1 146,390,541 (GRCm39) missense probably benign 0.33
IGL01937:Brinp3 APN 1 146,776,878 (GRCm39) missense probably benign
IGL02020:Brinp3 APN 1 146,777,865 (GRCm39) utr 3 prime probably benign
IGL02082:Brinp3 APN 1 146,627,600 (GRCm39) missense probably damaging 1.00
IGL02365:Brinp3 APN 1 146,776,860 (GRCm39) missense probably benign 0.00
IGL02366:Brinp3 APN 1 146,577,481 (GRCm39) missense possibly damaging 0.84
IGL02565:Brinp3 APN 1 146,777,770 (GRCm39) missense probably damaging 0.98
IGL02999:Brinp3 APN 1 146,577,587 (GRCm39) splice site probably null
IGL03099:Brinp3 APN 1 146,777,835 (GRCm39) missense possibly damaging 0.91
PIT4283001:Brinp3 UTSW 1 146,777,161 (GRCm39) missense probably damaging 0.99
PIT4418001:Brinp3 UTSW 1 146,777,161 (GRCm39) missense probably damaging 0.99
R0021:Brinp3 UTSW 1 146,777,189 (GRCm39) missense probably benign 0.04
R0021:Brinp3 UTSW 1 146,777,189 (GRCm39) missense probably benign 0.04
R0266:Brinp3 UTSW 1 146,558,418 (GRCm39) nonsense probably null
R1468:Brinp3 UTSW 1 146,777,700 (GRCm39) missense probably benign 0.01
R1468:Brinp3 UTSW 1 146,777,700 (GRCm39) missense probably benign 0.01
R1522:Brinp3 UTSW 1 146,777,628 (GRCm39) missense probably damaging 0.99
R1596:Brinp3 UTSW 1 146,390,520 (GRCm39) missense probably benign
R1898:Brinp3 UTSW 1 146,776,987 (GRCm39) missense possibly damaging 0.93
R2036:Brinp3 UTSW 1 146,577,579 (GRCm39) missense possibly damaging 0.84
R2224:Brinp3 UTSW 1 146,777,658 (GRCm39) nonsense probably null
R2272:Brinp3 UTSW 1 146,777,142 (GRCm39) missense possibly damaging 0.93
R2291:Brinp3 UTSW 1 146,776,812 (GRCm39) missense possibly damaging 0.85
R2322:Brinp3 UTSW 1 146,577,492 (GRCm39) missense probably benign
R2880:Brinp3 UTSW 1 146,777,740 (GRCm39) missense probably damaging 0.98
R3918:Brinp3 UTSW 1 146,627,599 (GRCm39) missense probably damaging 0.99
R3939:Brinp3 UTSW 1 146,627,599 (GRCm39) missense probably damaging 0.99
R3940:Brinp3 UTSW 1 146,627,599 (GRCm39) missense probably damaging 0.99
R3941:Brinp3 UTSW 1 146,627,599 (GRCm39) missense probably damaging 0.99
R4095:Brinp3 UTSW 1 146,777,430 (GRCm39) missense possibly damaging 0.72
R4783:Brinp3 UTSW 1 146,603,378 (GRCm39) intron probably benign
R5009:Brinp3 UTSW 1 146,776,787 (GRCm39) missense probably benign 0.25
R5034:Brinp3 UTSW 1 146,603,458 (GRCm39) intron probably benign
R5166:Brinp3 UTSW 1 146,777,105 (GRCm39) missense probably damaging 0.96
R5372:Brinp3 UTSW 1 146,707,464 (GRCm39) missense probably damaging 1.00
R5472:Brinp3 UTSW 1 146,777,197 (GRCm39) missense possibly damaging 0.86
R5651:Brinp3 UTSW 1 146,577,537 (GRCm39) missense probably benign 0.01
R5681:Brinp3 UTSW 1 146,777,484 (GRCm39) missense probably benign 0.12
R6351:Brinp3 UTSW 1 146,777,323 (GRCm39) missense probably damaging 0.96
R6470:Brinp3 UTSW 1 146,777,644 (GRCm39) missense probably damaging 0.99
R6499:Brinp3 UTSW 1 146,777,431 (GRCm39) missense possibly damaging 0.86
R7078:Brinp3 UTSW 1 146,390,627 (GRCm39) nonsense probably null
R7223:Brinp3 UTSW 1 146,776,812 (GRCm39) missense possibly damaging 0.85
R7322:Brinp3 UTSW 1 146,558,426 (GRCm39) nonsense probably null
R7347:Brinp3 UTSW 1 146,777,824 (GRCm39) missense probably benign 0.22
R7375:Brinp3 UTSW 1 146,777,748 (GRCm39) missense possibly damaging 0.91
R7412:Brinp3 UTSW 1 146,777,748 (GRCm39) missense possibly damaging 0.91
R7532:Brinp3 UTSW 1 146,777,139 (GRCm39) missense probably damaging 0.98
R7562:Brinp3 UTSW 1 146,777,748 (GRCm39) missense possibly damaging 0.91
R7576:Brinp3 UTSW 1 146,777,301 (GRCm39) missense probably damaging 0.99
R7723:Brinp3 UTSW 1 146,577,409 (GRCm39) missense probably damaging 1.00
R7737:Brinp3 UTSW 1 146,558,332 (GRCm39) missense probably damaging 0.98
R7793:Brinp3 UTSW 1 146,622,306 (GRCm39) missense probably benign 0.20
R8334:Brinp3 UTSW 1 146,777,791 (GRCm39) missense probably damaging 0.99
R8401:Brinp3 UTSW 1 146,777,184 (GRCm39) missense probably benign 0.17
R9205:Brinp3 UTSW 1 146,777,827 (GRCm39) missense possibly damaging 0.57
R9328:Brinp3 UTSW 1 146,707,455 (GRCm39) missense probably damaging 0.98
R9602:Brinp3 UTSW 1 146,622,234 (GRCm39) missense probably damaging 1.00
X0060:Brinp3 UTSW 1 146,777,524 (GRCm39) missense probably benign 0.01
Z1176:Brinp3 UTSW 1 146,777,814 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCTTCTCTACTCAGGGTGTTGTAAAC -3'
(R):5'- GTTTCAACAGGAGCAATCAGTCC -3'

Sequencing Primer
(F):5'- CTACTCAGGGTGTTGTAAACAAGTGC -3'
(R):5'- TCGTATTTTTGGGGCAAGACACAC -3'
Posted On 2015-04-30