Incidental Mutation 'R3940:Brinp3'
ID 307395
Institutional Source Beutler Lab
Gene Symbol Brinp3
Ensembl Gene ENSMUSG00000035131
Gene Name bone morphogenetic protein/retinoic acid inducible neural specific 3
Synonyms Fam5c, B830045N13Rik
MMRRC Submission 040922-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R3940 (G1)
Quality Score 225
Status 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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 95% (35/37)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Acsm3 A G 7: 119,373,109 (GRCm39) E204G probably benign Het
Acta2 A T 19: 34,220,880 (GRCm39) I276N possibly damaging Het
Ankrd16 T C 2: 11,789,192 (GRCm39) C260R probably benign Het
Ankrd42 T C 7: 92,240,996 (GRCm39) probably null Het
Atp13a2 T C 4: 140,733,733 (GRCm39) S1041P probably damaging Het
Calm5 A T 13: 3,904,485 (GRCm39) I37F possibly damaging Het
Casq1 A G 1: 172,047,103 (GRCm39) V52A possibly damaging Het
Col22a1 A T 15: 71,853,782 (GRCm39) L260* probably null Het
Cttnbp2 C A 6: 18,420,974 (GRCm39) V846L probably benign Het
Dnah12 A G 14: 26,444,754 (GRCm39) T627A probably benign Het
Eogt T C 6: 97,090,875 (GRCm39) I421M probably damaging Het
Fam135a T A 1: 24,096,556 (GRCm39) H63L probably damaging Het
Fmo3 T A 1: 162,791,555 (GRCm39) T241S probably benign Het
Frem3 T C 8: 81,341,649 (GRCm39) I1314T possibly damaging Het
Gm14393 T C 2: 174,903,420 (GRCm39) probably null Het
Kcna5 C T 6: 126,510,614 (GRCm39) V505I probably damaging Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Neto2 G A 8: 86,400,747 (GRCm39) T16I probably damaging Het
Or7a41 T A 10: 78,871,038 (GRCm39) I136N probably damaging Het
Or8k40 T A 2: 86,584,275 (GRCm39) D269V possibly damaging Het
Pcdhb7 T C 18: 37,477,021 (GRCm39) L719P probably damaging Het
Pcdhga9 G A 18: 37,871,995 (GRCm39) R608H probably benign Het
Pik3ip1 A G 11: 3,281,987 (GRCm39) N48S probably damaging Het
Pkn2 G A 3: 142,499,672 (GRCm39) S951L probably damaging Het
Prrc2a T C 17: 35,376,474 (GRCm39) H772R possibly damaging Het
Ric1 T C 19: 29,548,162 (GRCm39) Y277H probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf123 A T 9: 107,941,234 (GRCm39) probably benign Het
Robo1 T C 16: 72,806,631 (GRCm39) S1166P probably benign Het
S100a10 A G 3: 93,468,383 (GRCm39) E38G probably benign Het
Slc34a1 A T 13: 55,560,983 (GRCm39) I483F probably damaging Het
Stim1 A G 7: 102,084,848 (GRCm39) N600S probably benign Het
Ube3c T A 5: 29,824,358 (GRCm39) N517K probably benign 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
R3941:Brinp3 UTSW 1 146,627,599 (GRCm39) missense probably damaging 0.99
R3942: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'- GTTTCAACAGGAGCAATCAGTC -3'

Sequencing Primer
(F):5'- CTACTCAGGGTGTTGTAAACAAGTGC -3'
(R):5'- TCGTATTTTTGGGGCAAGACACAC -3'
Posted On 2015-04-17