Incidental Mutation 'R1522:Brinp3'
ID 167485
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 040871-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R1522 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 146494760-146902472 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 146901890 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 692 (T692P)
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: T692P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074201
Gene: ENSMUSG00000035131
AA Change: T692P

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: T692P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126074
Gene: ENSMUSG00000035131
AA Change: T692P

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
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.1%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T C 6: 83,162,586 (GRCm38) S498P probably damaging Het
3100002H09Rik A G 4: 124,610,694 (GRCm38) W22R probably damaging Het
AA986860 A G 1: 130,743,094 (GRCm38) E351G probably damaging Het
Acsl5 T C 19: 55,280,492 (GRCm38) V195A probably benign Het
Adamts10 A G 17: 33,537,319 (GRCm38) D312G probably benign Het
Adgrb1 A G 15: 74,580,617 (GRCm38) M211V probably damaging Het
Ankfy1 C T 11: 72,755,867 (GRCm38) R859* probably null Het
Atp8b1 T A 18: 64,550,432 (GRCm38) I742L probably benign Het
B3galnt2 T A 13: 13,970,769 (GRCm38) V89E probably damaging Het
BC024978 A G 7: 27,202,680 (GRCm38) H244R probably damaging Het
C9 T A 15: 6,486,762 (GRCm38) F349I probably damaging Het
Cacna1a T A 8: 84,633,433 (GRCm38) M1976K probably benign Het
Ccdc180 T C 4: 45,927,975 (GRCm38) V1170A possibly damaging Het
Celsr1 A G 15: 85,931,276 (GRCm38) V1846A probably benign Het
Ces1f A T 8: 93,271,889 (GRCm38) Y160N possibly damaging Het
Cfap45 A G 1: 172,540,572 (GRCm38) E377G probably damaging Het
Clca3a1 T A 3: 144,755,171 (GRCm38) M240L probably benign Het
Clnk G A 5: 38,794,966 (GRCm38) T10M probably damaging Het
Cntrl T A 2: 35,155,279 (GRCm38) I781K possibly damaging Het
Col11a2 G A 17: 34,055,254 (GRCm38) G375S probably damaging Het
Col6a5 T A 9: 105,939,994 (GRCm38) I373F unknown Het
Dmxl1 C T 18: 49,852,367 (GRCm38) A227V probably benign Het
Dok5 A G 2: 170,732,132 (GRCm38) N4D probably benign Het
Dpysl3 A T 18: 43,363,557 (GRCm38) V138D probably damaging Het
Efs A T 14: 54,919,715 (GRCm38) Y380N probably damaging Het
Eme2 G A 17: 24,892,918 (GRCm38) S263F probably damaging Het
Farp2 A G 1: 93,618,553 (GRCm38) Q855R possibly damaging Het
Fcrls A C 3: 87,256,707 (GRCm38) S372A possibly damaging Het
Gadl1 C T 9: 115,944,229 (GRCm38) A113V probably damaging Het
Gatsl2 T G 5: 134,125,887 (GRCm38) S43R probably damaging Het
Gda T A 19: 21,412,539 (GRCm38) E219D probably benign Het
Gli1 A T 10: 127,332,577 (GRCm38) M469K probably damaging Het
Gm4847 A T 1: 166,641,650 (GRCm38) S148R probably damaging Het
Golga2 T C 2: 32,302,204 (GRCm38) V325A probably benign Het
Hpf1 A G 8: 60,896,749 (GRCm38) D137G probably damaging Het
Htr2a C G 14: 74,705,853 (GRCm38) S291* probably null Het
Itga5 G A 15: 103,356,782 (GRCm38) Q233* probably null Het
Jazf1 C A 6: 52,812,183 (GRCm38) R102L probably damaging Het
Kif6 T G 17: 49,714,113 (GRCm38) L322R probably damaging Het
Ktn1 A C 14: 47,667,416 (GRCm38) K217T probably damaging Het
Lig4 A T 8: 9,973,012 (GRCm38) V256E possibly damaging Het
Lrp1 A T 10: 127,575,286 (GRCm38) D1399E probably benign Het
Lrp1 G T 10: 127,567,364 (GRCm38) D2113E probably damaging Het
Mmel1 A G 4: 154,894,986 (GRCm38) E717G probably damaging Het
Mndal G T 1: 173,871,466 (GRCm38) P155H possibly damaging Het
Mycbpap A G 11: 94,511,623 (GRCm38) probably null Het
Nedd1 T C 10: 92,719,614 (GRCm38) E3G probably damaging Het
Nlgn1 A T 3: 25,435,909 (GRCm38) N551K probably damaging Het
Nup210 G A 6: 91,069,166 (GRCm38) P595L possibly damaging Het
Olfr117 A T 17: 37,659,770 (GRCm38) C188S probably damaging Het
Olfr1302 A T 2: 111,780,348 (GRCm38) probably null Het
Olfr199 T G 16: 59,215,984 (GRCm38) T210P probably damaging Het
Olfr477 A G 7: 107,990,533 (GRCm38) H56R probably benign Het
Olfr697 A G 7: 106,741,005 (GRCm38) C310R probably benign Het
Pank3 G A 11: 35,781,681 (GRCm38) V304M probably benign Het
Phf3 G A 1: 30,805,648 (GRCm38) T1410I probably benign Het
Ppm1k A G 6: 57,525,157 (GRCm38) I7T possibly damaging Het
Ppp1r12c T C 7: 4,497,425 (GRCm38) D73G probably damaging Het
Prelid2 T G 18: 41,881,267 (GRCm38) M165L probably benign Het
Prkd3 A C 17: 78,952,696 (GRCm38) L826R probably damaging Het
Ptchd4 A T 17: 42,503,542 (GRCm38) N778I probably damaging Het
Ptprm T C 17: 66,693,871 (GRCm38) D1063G possibly damaging Het
Rab27a C A 9: 73,075,482 (GRCm38) T23N probably damaging Het
Rasgrf2 A T 13: 91,896,086 (GRCm38) F949L probably benign Het
Rbm33 A G 5: 28,337,004 (GRCm38) N68D probably damaging Het
Rgl1 A T 1: 152,586,533 (GRCm38) L109Q probably damaging Het
Rnf20 A G 4: 49,638,197 (GRCm38) N103S possibly damaging Het
Sbno1 G A 5: 124,392,612 (GRCm38) L875F probably damaging Het
Scube1 T A 15: 83,628,076 (GRCm38) probably null Het
Selenbp1 G A 3: 94,937,358 (GRCm38) V109M probably damaging Het
Serpina3c T A 12: 104,151,546 (GRCm38) I178F probably damaging Het
Shisa8 C T 15: 82,208,501 (GRCm38) G63D probably damaging Het
Snx14 T C 9: 88,402,224 (GRCm38) R464G possibly damaging Het
Snx25 A T 8: 46,124,082 (GRCm38) M1K probably null Het
Sorcs3 C A 19: 48,706,009 (GRCm38) T574K possibly damaging Het
Syne2 A G 12: 76,103,783 (GRCm38) E6528G probably damaging Het
Syt5 T C 7: 4,540,246 (GRCm38) E338G probably damaging Het
Tbk1 T C 10: 121,551,318 (GRCm38) K691E probably benign Het
Tenm3 G A 8: 48,395,576 (GRCm38) T11I probably damaging Het
Thrb A G 14: 18,002,597 (GRCm38) H87R probably damaging Het
Tlr4 T A 4: 66,839,696 (GRCm38) M242K possibly damaging Het
Tm4sf19 T C 16: 32,406,002 (GRCm38) M56T possibly damaging Het
Tmem212 T A 3: 27,886,471 (GRCm38) R66* probably null Het
Tmem39b G T 4: 129,684,482 (GRCm38) D315E probably benign Het
Tnxb T C 17: 34,718,638 (GRCm38) F3834L probably damaging Het
Trim36 A T 18: 46,186,183 (GRCm38) L225* probably null Het
Trim42 A T 9: 97,365,679 (GRCm38) H321Q probably damaging Het
Trio G T 15: 27,732,640 (GRCm38) Q3052K probably benign Het
Trpm3 T C 19: 22,978,334 (GRCm38) I1091T probably benign Het
Tst T C 15: 78,399,943 (GRCm38) E228G possibly damaging Het
Ttn T C 2: 76,871,716 (GRCm38) probably benign Het
Uap1 A C 1: 170,150,941 (GRCm38) probably null Het
Ush2a T C 1: 188,797,814 (GRCm38) S3267P possibly damaging Het
Usp5 T C 6: 124,825,166 (GRCm38) T38A probably benign Het
Uvssa A T 5: 33,387,808 (GRCm38) Q84L probably damaging Het
Vmn1r159 T G 7: 22,843,268 (GRCm38) H113P probably damaging Het
Vps13d A T 4: 145,098,172 (GRCm38) probably null Het
Zfp182 T A X: 21,031,560 (GRCm38) I166L probably benign Het
Zfp811 A T 17: 32,797,648 (GRCm38) Y472N probably damaging Het
Other mutations in Brinp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Brinp3 APN 1 146,901,774 (GRCm38) missense probably damaging 0.99
IGL00503:Brinp3 APN 1 146,901,167 (GRCm38) missense probably benign
IGL01702:Brinp3 APN 1 146,751,997 (GRCm38) splice site probably benign
IGL01728:Brinp3 APN 1 146,831,551 (GRCm38) splice site probably null
IGL01733:Brinp3 APN 1 146,514,803 (GRCm38) missense probably benign 0.33
IGL01937:Brinp3 APN 1 146,901,140 (GRCm38) missense probably benign
IGL02020:Brinp3 APN 1 146,902,127 (GRCm38) utr 3 prime probably benign
IGL02082:Brinp3 APN 1 146,751,862 (GRCm38) missense probably damaging 1.00
IGL02365:Brinp3 APN 1 146,901,122 (GRCm38) missense probably benign 0.00
IGL02366:Brinp3 APN 1 146,701,743 (GRCm38) missense possibly damaging 0.84
IGL02565:Brinp3 APN 1 146,902,032 (GRCm38) missense probably damaging 0.98
IGL02999:Brinp3 APN 1 146,701,849 (GRCm38) splice site probably null
IGL03099:Brinp3 APN 1 146,902,097 (GRCm38) missense possibly damaging 0.91
PIT4283001:Brinp3 UTSW 1 146,901,423 (GRCm38) missense probably damaging 0.99
PIT4418001:Brinp3 UTSW 1 146,901,423 (GRCm38) missense probably damaging 0.99
R0021:Brinp3 UTSW 1 146,901,451 (GRCm38) missense probably benign 0.04
R0021:Brinp3 UTSW 1 146,901,451 (GRCm38) missense probably benign 0.04
R0266:Brinp3 UTSW 1 146,682,680 (GRCm38) nonsense probably null
R1468:Brinp3 UTSW 1 146,901,962 (GRCm38) missense probably benign 0.01
R1468:Brinp3 UTSW 1 146,901,962 (GRCm38) missense probably benign 0.01
R1596:Brinp3 UTSW 1 146,514,782 (GRCm38) missense probably benign
R1898:Brinp3 UTSW 1 146,901,249 (GRCm38) missense possibly damaging 0.93
R2036:Brinp3 UTSW 1 146,701,841 (GRCm38) missense possibly damaging 0.84
R2224:Brinp3 UTSW 1 146,901,920 (GRCm38) nonsense probably null
R2272:Brinp3 UTSW 1 146,901,404 (GRCm38) missense possibly damaging 0.93
R2291:Brinp3 UTSW 1 146,901,074 (GRCm38) missense possibly damaging 0.85
R2322:Brinp3 UTSW 1 146,701,754 (GRCm38) missense probably benign
R2880:Brinp3 UTSW 1 146,902,002 (GRCm38) missense probably damaging 0.98
R3918:Brinp3 UTSW 1 146,751,861 (GRCm38) missense probably damaging 0.99
R3939:Brinp3 UTSW 1 146,751,861 (GRCm38) missense probably damaging 0.99
R3940:Brinp3 UTSW 1 146,751,861 (GRCm38) missense probably damaging 0.99
R3941:Brinp3 UTSW 1 146,751,861 (GRCm38) missense probably damaging 0.99
R3942:Brinp3 UTSW 1 146,751,861 (GRCm38) missense probably damaging 0.99
R4095:Brinp3 UTSW 1 146,901,692 (GRCm38) missense possibly damaging 0.72
R4783:Brinp3 UTSW 1 146,727,640 (GRCm38) intron probably benign
R5009:Brinp3 UTSW 1 146,901,049 (GRCm38) missense probably benign 0.25
R5034:Brinp3 UTSW 1 146,727,720 (GRCm38) intron probably benign
R5166:Brinp3 UTSW 1 146,901,367 (GRCm38) missense probably damaging 0.96
R5372:Brinp3 UTSW 1 146,831,726 (GRCm38) missense probably damaging 1.00
R5472:Brinp3 UTSW 1 146,901,459 (GRCm38) missense possibly damaging 0.86
R5651:Brinp3 UTSW 1 146,701,799 (GRCm38) missense probably benign 0.01
R5681:Brinp3 UTSW 1 146,901,746 (GRCm38) missense probably benign 0.12
R6351:Brinp3 UTSW 1 146,901,585 (GRCm38) missense probably damaging 0.96
R6470:Brinp3 UTSW 1 146,901,906 (GRCm38) missense probably damaging 0.99
R6499:Brinp3 UTSW 1 146,901,693 (GRCm38) missense possibly damaging 0.86
R7078:Brinp3 UTSW 1 146,514,889 (GRCm38) nonsense probably null
R7223:Brinp3 UTSW 1 146,901,074 (GRCm38) missense possibly damaging 0.85
R7322:Brinp3 UTSW 1 146,682,688 (GRCm38) nonsense probably null
R7347:Brinp3 UTSW 1 146,902,086 (GRCm38) missense probably benign 0.22
R7375:Brinp3 UTSW 1 146,902,010 (GRCm38) missense possibly damaging 0.91
R7412:Brinp3 UTSW 1 146,902,010 (GRCm38) missense possibly damaging 0.91
R7532:Brinp3 UTSW 1 146,901,401 (GRCm38) missense probably damaging 0.98
R7562:Brinp3 UTSW 1 146,902,010 (GRCm38) missense possibly damaging 0.91
R7576:Brinp3 UTSW 1 146,901,563 (GRCm38) missense probably damaging 0.99
R7723:Brinp3 UTSW 1 146,701,671 (GRCm38) missense probably damaging 1.00
R7737:Brinp3 UTSW 1 146,682,594 (GRCm38) missense probably damaging 0.98
R7793:Brinp3 UTSW 1 146,746,568 (GRCm38) missense probably benign 0.20
R8334:Brinp3 UTSW 1 146,902,053 (GRCm38) missense probably damaging 0.99
R8401:Brinp3 UTSW 1 146,901,446 (GRCm38) missense probably benign 0.17
R9205:Brinp3 UTSW 1 146,902,089 (GRCm38) missense possibly damaging 0.57
R9328:Brinp3 UTSW 1 146,831,717 (GRCm38) missense probably damaging 0.98
R9602:Brinp3 UTSW 1 146,746,496 (GRCm38) missense probably damaging 1.00
X0060:Brinp3 UTSW 1 146,901,786 (GRCm38) missense probably benign 0.01
Z1176:Brinp3 UTSW 1 146,902,076 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACACATCTACCTGAGGAGTCGCATC -3'
(R):5'- ATCCACTGTGTTTGGCAACTTGGC -3'

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