Incidental Mutation 'R8385:Brap'
ID 647110
Institutional Source Beutler Lab
Gene Symbol Brap
Ensembl Gene ENSMUSG00000029458
Gene Name BRCA1 associated protein
Synonyms 3010002G07Rik
MMRRC Submission 067751-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8385 (G1)
Quality Score 213.009
Status Not validated
Chromosome 5
Chromosomal Location 121798626-121825312 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 121823197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 473 (T473I)
Ref Sequence ENSEMBL: ENSMUSP00000031414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031414] [ENSMUST00000111765] [ENSMUST00000140996]
AlphaFold Q99MP8
Predicted Effect probably benign
Transcript: ENSMUST00000031414
AA Change: T473I

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000031414
Gene: ENSMUSG00000029458
AA Change: T473I

DomainStartEndE-ValueType
Pfam:BRAP2 153 251 3.7e-38 PFAM
RING 263 302 7.92e-8 SMART
ZnF_UBP 315 364 1.68e-25 SMART
coiled coil region 430 535 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111765
AA Change: T443I

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107395
Gene: ENSMUSG00000029458
AA Change: T443I

DomainStartEndE-ValueType
Pfam:BRAP2 117 226 3.5e-41 PFAM
RING 233 272 3.7e-10 SMART
ZnF_UBP 285 334 1.1e-27 SMART
coiled coil region 400 505 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140996
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis and subtle defects in cell cycle-dependent nuclear movement in neural progenitors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1e T A 1: 154,319,687 (GRCm39) M1400L probably damaging Het
Catsper2 A G 2: 121,240,621 (GRCm39) I127T possibly damaging Het
Dbt A T 3: 116,317,039 (GRCm39) I72F probably damaging Het
Ddhd2 T C 8: 26,225,041 (GRCm39) H592R probably damaging Het
Disp2 T A 2: 118,620,891 (GRCm39) M541K probably damaging Het
Dnai7 C T 6: 145,120,918 (GRCm39) E685K probably damaging Het
Dnmbp T C 19: 43,878,090 (GRCm39) D327G probably benign Het
Dvl1 A G 4: 155,940,037 (GRCm39) S390G possibly damaging Het
Fbxo22 A G 9: 55,121,233 (GRCm39) D106G probably damaging Het
Gfm2 A G 13: 97,301,519 (GRCm39) T441A probably benign Het
Gm5431 T C 11: 48,780,347 (GRCm39) I192V probably damaging Het
Gosr1 T A 11: 76,620,967 (GRCm39) T241S possibly damaging Het
Hk2 T C 6: 82,706,527 (GRCm39) S792G probably benign Het
Itsn1 A C 16: 91,690,699 (GRCm39) K1302Q unknown Het
Kif16b T C 2: 142,554,258 (GRCm39) K847E probably benign Het
Lfng G A 5: 140,598,981 (GRCm39) E297K probably damaging Het
Mark3 A G 12: 111,621,808 (GRCm39) D650G possibly damaging Het
Mgat4f A G 1: 134,318,376 (GRCm39) K383E probably benign Het
Mob3b T C 4: 34,985,980 (GRCm39) Y186C probably damaging Het
Mphosph9 T C 5: 124,450,785 (GRCm39) K329E probably benign Het
Mta1 A T 12: 113,095,085 (GRCm39) M448L probably benign Het
Mterf1a A T 5: 3,941,384 (GRCm39) N161K probably damaging Het
Myo10 T A 15: 25,804,484 (GRCm39) I1593N probably damaging Het
Naca A G 10: 127,878,307 (GRCm39) N1113S unknown Het
Or2w4 T C 13: 21,795,522 (GRCm39) I206V probably benign Het
Or5e1 T G 7: 108,354,511 (GRCm39) Y149* probably null Het
Pcdhga1 A T 18: 37,795,149 (GRCm39) D51V probably damaging Het
Peg3 T C 7: 6,711,082 (GRCm39) E1380G probably damaging Het
Pkd1 G A 17: 24,794,702 (GRCm39) V2130M possibly damaging Het
Pla2g4c C T 7: 13,063,589 (GRCm39) P19S probably benign Het
Popdc2 G A 16: 38,183,262 (GRCm39) V82I probably benign Het
Ppfibp2 A G 7: 107,296,894 (GRCm39) R203G probably benign Het
Rab19 T A 6: 39,360,892 (GRCm39) N13K probably benign Het
Raet1d T A 10: 22,246,817 (GRCm39) D48E probably benign Het
Rell1 T A 5: 64,087,861 (GRCm39) K136* probably null Het
Slc38a4 A G 15: 96,897,393 (GRCm39) I474T probably damaging Het
Slf1 T C 13: 77,254,109 (GRCm39) M243V probably benign Het
Spata31f1a C T 4: 42,850,509 (GRCm39) R549H possibly damaging Het
Speer4c2 A T 5: 15,857,669 (GRCm39) S203T unknown Het
Spg11 A T 2: 121,927,802 (GRCm39) S661T probably benign Het
Thra C G 11: 98,659,177 (GRCm39) S435R probably benign Het
Tmem181a T C 17: 6,339,274 (GRCm39) I61T probably benign Het
Ttpa G A 4: 20,028,483 (GRCm39) G247S probably damaging Het
Usp17lb C T 7: 104,489,830 (GRCm39) V366I possibly damaging Het
Vit A T 17: 78,927,066 (GRCm39) Q337L probably benign Het
Vmn2r102 A G 17: 19,914,088 (GRCm39) Y551C possibly damaging Het
Vps52 T C 17: 34,181,791 (GRCm39) L539P probably damaging Het
Ythdc1 C A 5: 86,975,961 (GRCm39) P529T possibly damaging Het
Zdhhc13 T C 7: 48,455,444 (GRCm39) probably null Het
Zfp282 A T 6: 47,882,023 (GRCm39) Y570F possibly damaging Het
Zfp872 A T 9: 22,111,407 (GRCm39) K295N probably damaging Het
Other mutations in Brap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Brap APN 5 121,803,290 (GRCm39) missense probably damaging 1.00
IGL01672:Brap APN 5 121,816,908 (GRCm39) unclassified probably benign
IGL01889:Brap APN 5 121,798,881 (GRCm39) missense probably benign 0.00
IGL01977:Brap APN 5 121,816,910 (GRCm39) unclassified probably benign
IGL01978:Brap APN 5 121,816,910 (GRCm39) unclassified probably benign
IGL01996:Brap APN 5 121,816,910 (GRCm39) unclassified probably benign
IGL02499:Brap APN 5 121,817,934 (GRCm39) missense probably damaging 0.99
IGL03137:Brap APN 5 121,803,156 (GRCm39) splice site probably benign
R1185:Brap UTSW 5 121,813,342 (GRCm39) missense probably damaging 1.00
R1185:Brap UTSW 5 121,813,342 (GRCm39) missense probably damaging 1.00
R1185:Brap UTSW 5 121,813,342 (GRCm39) missense probably damaging 1.00
R1624:Brap UTSW 5 121,820,922 (GRCm39) missense possibly damaging 0.65
R1709:Brap UTSW 5 121,803,353 (GRCm39) critical splice donor site probably null
R2056:Brap UTSW 5 121,801,529 (GRCm39) missense probably damaging 1.00
R2109:Brap UTSW 5 121,801,422 (GRCm39) missense possibly damaging 0.63
R3196:Brap UTSW 5 121,803,259 (GRCm39) missense possibly damaging 0.70
R4591:Brap UTSW 5 121,800,113 (GRCm39) missense probably null 1.00
R4744:Brap UTSW 5 121,800,193 (GRCm39) missense probably damaging 1.00
R4924:Brap UTSW 5 121,803,318 (GRCm39) missense probably damaging 1.00
R5000:Brap UTSW 5 121,800,089 (GRCm39) nonsense probably null
R5702:Brap UTSW 5 121,803,206 (GRCm39) missense probably damaging 1.00
R5893:Brap UTSW 5 121,817,405 (GRCm39) nonsense probably null
R6244:Brap UTSW 5 121,803,372 (GRCm39) missense probably benign 0.02
R6266:Brap UTSW 5 121,823,328 (GRCm39) missense probably benign 0.00
R6726:Brap UTSW 5 121,813,365 (GRCm39) missense probably damaging 1.00
R7765:Brap UTSW 5 121,800,192 (GRCm39) missense probably damaging 1.00
R7995:Brap UTSW 5 121,820,909 (GRCm39) missense probably benign
R8465:Brap UTSW 5 121,817,358 (GRCm39) nonsense probably null
R8809:Brap UTSW 5 121,822,524 (GRCm39) missense possibly damaging 0.78
R8827:Brap UTSW 5 121,810,261 (GRCm39) missense probably benign 0.00
R9191:Brap UTSW 5 121,823,350 (GRCm39) missense probably benign 0.01
R9631:Brap UTSW 5 121,822,435 (GRCm39) missense probably benign 0.16
R9705:Brap UTSW 5 121,801,373 (GRCm39) missense probably benign
X0003:Brap UTSW 5 121,817,319 (GRCm39) missense probably damaging 1.00
Z1176:Brap UTSW 5 121,813,440 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- GGACAGGACCTAATGGCTAATGATG -3'
(R):5'- ATCTGCTGCTGTGTCTCCAG -3'

Sequencing Primer
(F):5'- CCTAATGGCTAATGATGCTGAGC -3'
(R):5'- CTGTGTCTCCAGGTAGAACATGAC -3'
Posted On 2020-09-02