Incidental Mutation 'R1141:Brinp2'
ID102084
Institutional Source Beutler Lab
Gene Symbol Brinp2
Ensembl Gene ENSMUSG00000004031
Gene Namebone morphogenic protein/retinoic acid inducible neural-specific 2
Synonyms6430517E21Rik, Fam5b
MMRRC Submission 039214-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.346) question?
Stock #R1141 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location158245269-158356326 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 158247270 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 427 (C427F)
Ref Sequence ENSEMBL: ENSMUSP00000004133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004133] [ENSMUST00000195271]
Predicted Effect probably damaging
Transcript: ENSMUST00000004133
AA Change: C427F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000004133
Gene: ENSMUSG00000004031
AA Change: C427F

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
MACPF 89 281 6.58e-50 SMART
Blast:MACPF 338 362 1e-5 BLAST
EGF 457 492 6.92e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195271
SMART Domains Protein: ENSMUSP00000141709
Gene: ENSMUSG00000004031

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:MACPF 63 160 2.1e-6 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.0%
  • 10x: 94.1%
  • 20x: 84.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 G A 6: 86,965,476 probably null Het
Asap2 A G 12: 21,185,110 N71S probably damaging Het
Brinp1 T C 4: 68,792,978 H331R probably benign Het
Ccr6 A G 17: 8,256,002 Y13C probably damaging Het
Celf4 T C 18: 25,504,904 D187G probably damaging Het
Clcn6 T G 4: 148,013,899 T556P probably damaging Het
Dst A T 1: 34,188,696 Q1968L possibly damaging Het
Elavl4 G A 4: 110,251,368 Q53* probably null Het
Fbxw15 G A 9: 109,558,246 S227F probably damaging Het
Gli2 T C 1: 118,837,937 H828R possibly damaging Het
Gm12166 G A 11: 46,051,954 A114V possibly damaging Het
Gpr108 A G 17: 57,237,219 V397A probably damaging Het
Lrba T C 3: 86,619,558 I2241T probably damaging Het
Map3k21 G A 8: 125,941,732 V686M probably benign Het
Nfatc4 A T 14: 55,832,631 E752V probably damaging Het
R3hdm1 G A 1: 128,231,405 R939H probably benign Het
Rnf213 A G 11: 119,435,983 T1599A probably benign Het
Slc3a1 T C 17: 85,028,649 F73S possibly damaging Het
Sppl3 TGG TG 5: 115,088,293 probably null Het
Stx1b T C 7: 127,810,926 probably null Het
Tnc C T 4: 64,013,994 V728M probably damaging Het
Trim24 C T 6: 37,915,293 H254Y probably damaging Het
Ttbk2 A G 2: 120,806,851 L42P probably damaging Het
Vmn2r53 G A 7: 12,600,746 T329I possibly damaging Het
Zfp174 T A 16: 3,849,457 I170N probably benign Het
Zfp455 T A 13: 67,198,591 L22Q probably damaging Het
Other mutations in Brinp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Brinp2 APN 1 158247100 missense probably benign 0.04
IGL01537:Brinp2 APN 1 158246809 missense probably damaging 1.00
IGL02354:Brinp2 APN 1 158247178 missense probably damaging 1.00
IGL02361:Brinp2 APN 1 158247178 missense probably damaging 1.00
R0334:Brinp2 UTSW 1 158295585 missense probably benign 0.06
R0652:Brinp2 UTSW 1 158246621 missense probably damaging 1.00
R1017:Brinp2 UTSW 1 158249451 missense probably damaging 0.99
R1378:Brinp2 UTSW 1 158247054 missense possibly damaging 0.82
R1666:Brinp2 UTSW 1 158246558 missense probably damaging 1.00
R1892:Brinp2 UTSW 1 158254972 critical splice donor site probably null
R1986:Brinp2 UTSW 1 158246778 missense probably damaging 1.00
R3876:Brinp2 UTSW 1 158246846 missense probably damaging 0.99
R3924:Brinp2 UTSW 1 158246208 missense probably damaging 1.00
R4582:Brinp2 UTSW 1 158267938 missense probably damaging 1.00
R5239:Brinp2 UTSW 1 158251338 missense probably benign 0.00
R5537:Brinp2 UTSW 1 158255013 missense probably damaging 0.97
R5582:Brinp2 UTSW 1 158249409 missense probably damaging 1.00
R5762:Brinp2 UTSW 1 158246586 missense probably benign
R5922:Brinp2 UTSW 1 158249355 missense possibly damaging 0.79
R6746:Brinp2 UTSW 1 158266590 missense probably benign
R6999:Brinp2 UTSW 1 158251305 missense probably benign 0.20
R7144:Brinp2 UTSW 1 158295424 critical splice donor site unknown
X0024:Brinp2 UTSW 1 158267983 nonsense probably null
Z1088:Brinp2 UTSW 1 158246989 nonsense probably null
Predicted Primers
Posted On2014-01-15