Incidental Mutation 'IGL02565:Brinp3'
ID 298792
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02565
Quality Score
Status
Chromosome 1
Chromosomal Location 146371367-146778210 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 146777770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 739 (V739E)
Ref Sequence ENSEMBL: ENSMUSP00000126074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074622] [ENSMUST00000128345] [ENSMUST00000166814]
AlphaFold Q499E0
Predicted Effect probably damaging
Transcript: ENSMUST00000074622
AA Change: V739E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074201
Gene: ENSMUSG00000035131
AA Change: V739E

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 damaging
Transcript: ENSMUST00000166814
AA Change: V739E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126074
Gene: ENSMUSG00000035131
AA Change: V739E

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
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 126,302,677 (GRCm39) S205R probably benign Het
Adora3 A G 3: 105,815,128 (GRCm39) T293A probably benign Het
App T C 16: 84,822,308 (GRCm39) probably null Het
Asap1 A G 15: 64,001,014 (GRCm39) probably benign Het
Bsn A G 9: 107,990,487 (GRCm39) V1755A probably damaging Het
Clmp A C 9: 40,683,711 (GRCm39) D147A probably damaging Het
Cntn5 A T 9: 10,145,343 (GRCm39) C122* probably null Het
Ctsb T G 14: 63,375,859 (GRCm39) C198G probably null Het
Cyld A T 8: 89,467,919 (GRCm39) R702S probably damaging Het
Cyp4v3 A G 8: 45,773,674 (GRCm39) V165A possibly damaging Het
Dpy19l4 C A 4: 11,309,440 (GRCm39) V59F probably benign Het
Eml1 A T 12: 108,472,779 (GRCm39) T196S probably damaging Het
Fam111a T A 19: 12,564,318 (GRCm39) D22E probably damaging Het
Gigyf2 A G 1: 87,369,858 (GRCm39) H1150R probably damaging Het
Grk5 T G 19: 61,057,809 (GRCm39) F170V probably damaging Het
Heatr5a A C 12: 51,997,882 (GRCm39) V339G possibly damaging Het
Hgd T A 16: 37,435,749 (GRCm39) D153E possibly damaging Het
Ift70b A G 2: 75,768,247 (GRCm39) Y169H probably benign Het
Igdcc3 T A 9: 65,087,470 (GRCm39) L336Q probably damaging Het
Jph2 T C 2: 163,239,265 (GRCm39) E61G probably damaging Het
Ktn1 A T 14: 47,910,391 (GRCm39) probably benign Het
Lrch3 T A 16: 32,826,084 (GRCm39) D634E probably benign Het
Marchf6 T C 15: 31,490,712 (GRCm39) probably benign Het
Misp T A 10: 79,662,177 (GRCm39) I198N probably benign Het
Mmp14 C T 14: 54,678,014 (GRCm39) P545L probably benign Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Muc5b T C 7: 141,411,604 (GRCm39) S1517P unknown Het
Nae1 A T 8: 105,237,841 (GRCm39) N518K probably damaging Het
Pglyrp4 A T 3: 90,642,794 (GRCm39) D225V probably benign Het
Pgpep1 A G 8: 71,105,119 (GRCm39) I47T probably damaging Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Pitpnc1 G A 11: 107,187,059 (GRCm39) T88I probably damaging Het
Poldip2 T C 11: 78,408,678 (GRCm39) I181T probably damaging Het
Ppfia2 T C 10: 106,699,247 (GRCm39) probably null Het
Rasal1 A G 5: 120,814,845 (GRCm39) probably benign Het
Rbms1 A G 2: 60,590,123 (GRCm39) Y305H probably benign Het
Rnf123 A C 9: 107,929,411 (GRCm39) probably null Het
Sec14l3 G A 11: 4,026,237 (GRCm39) probably benign Het
Slc2a10 A C 2: 165,357,000 (GRCm39) D220A probably damaging Het
Slc38a8 T C 8: 120,212,300 (GRCm39) T348A probably damaging Het
Slc4a5 T C 6: 83,276,487 (GRCm39) V1104A probably benign Het
Snrpe T C 1: 133,536,704 (GRCm39) probably benign Het
Th C A 7: 142,453,647 (GRCm39) V18F probably damaging Het
Ubqln5 G A 7: 103,778,279 (GRCm39) Q182* probably null Het
Unc5c T C 3: 141,509,680 (GRCm39) V646A probably damaging Het
Wasf1 A G 10: 40,812,128 (GRCm39) N306D 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
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
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
Posted On 2015-04-16