Incidental Mutation 'R2109:Brap'
ID 232358
Institutional Source Beutler Lab
Gene Symbol Brap
Ensembl Gene ENSMUSG00000029458
Gene Name BRCA1 associated protein
Synonyms 3010002G07Rik
MMRRC Submission 040113-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2109 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 121798626-121825312 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 121801422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 59 (S59I)
Ref Sequence ENSEMBL: ENSMUSP00000143043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031412] [ENSMUST00000031414] [ENSMUST00000111765] [ENSMUST00000111770] [ENSMUST00000142701] [ENSMUST00000195952] [ENSMUST00000140996]
AlphaFold Q99MP8
Predicted Effect probably benign
Transcript: ENSMUST00000031412
SMART Domains Protein: ENSMUSP00000031412
Gene: ENSMUSG00000029456

DomainStartEndE-ValueType
Pfam:HAD_2 45 231 1.6e-14 PFAM
Pfam:Hydrolase 88 225 5e-8 PFAM
Pfam:APH 287 531 1.8e-52 PFAM
Pfam:Acyl-CoA_dh_N 660 787 1.7e-15 PFAM
Pfam:Acyl-CoA_dh_M 791 892 2.7e-20 PFAM
Pfam:Acyl-CoA_dh_1 904 1055 1.1e-35 PFAM
Pfam:Acyl-CoA_dh_2 919 1037 6.4e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000031414
AA Change: S103I

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000031414
Gene: ENSMUSG00000029458
AA Change: S103I

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 possibly damaging
Transcript: ENSMUST00000111765
AA Change: S73I

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107395
Gene: ENSMUSG00000029458
AA Change: S73I

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: ENSMUST00000111770
SMART Domains Protein: ENSMUSP00000107400
Gene: ENSMUSG00000029456

DomainStartEndE-ValueType
Pfam:HAD_2 45 231 2.3e-14 PFAM
Pfam:APH 287 523 3.2e-50 PFAM
Pfam:EcKinase 390 504 5.2e-8 PFAM
Pfam:Acyl-CoA_dh_N 660 787 3.4e-14 PFAM
Pfam:Acyl-CoA_dh_M 791 845 2.7e-13 PFAM
Pfam:Acyl-CoA_dh_1 904 1055 9.4e-36 PFAM
Pfam:Acyl-CoA_dh_2 919 1037 1.6e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127703
SMART Domains Protein: ENSMUSP00000118574
Gene: ENSMUSG00000029458

DomainStartEndE-ValueType
Pfam:BRAP2 1 39 6.3e-13 PFAM
RING 46 85 7.92e-8 SMART
ZnF_UBP 98 147 1.68e-25 SMART
coiled coil region 213 318 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132491
Predicted Effect possibly damaging
Transcript: ENSMUST00000142701
AA Change: S59I

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143043
Gene: ENSMUSG00000029458
AA Change: S59I

DomainStartEndE-ValueType
Pfam:BRAP2 103 175 3.8e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148052
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133775
Predicted Effect probably benign
Transcript: ENSMUST00000195952
Predicted Effect probably benign
Transcript: ENSMUST00000140996
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik G T 7: 43,900,435 (GRCm39) R113S probably benign Het
Ackr2 A T 9: 121,738,026 (GRCm39) I134F probably damaging Het
Actr3b T A 5: 26,036,709 (GRCm39) I174N possibly damaging Het
Akap9 T A 5: 4,094,847 (GRCm39) S2214T possibly damaging Het
Arhgef12 C A 9: 42,890,768 (GRCm39) R986L possibly damaging Het
Btnl1 C T 17: 34,598,578 (GRCm39) H65Y probably damaging Het
C1s2 T C 6: 124,612,004 (GRCm39) T121A probably damaging Het
Capn1 T A 19: 6,064,388 (GRCm39) Y37F probably benign Het
Ccdc39 T C 3: 33,869,650 (GRCm39) K726E probably damaging Het
Cd300lb G A 11: 114,816,865 (GRCm39) S195F probably damaging Het
Cenpf T C 1: 189,411,264 (GRCm39) K307E probably damaging Het
Chodl A C 16: 78,738,251 (GRCm39) N73T possibly damaging Het
Cimip2c G A 5: 30,637,851 (GRCm39) G66E probably damaging Het
Crnn A T 3: 93,055,747 (GRCm39) M178L probably benign Het
Cyp4a12b A G 4: 115,290,110 (GRCm39) D221G probably damaging Het
Dipk2a A T 9: 94,406,498 (GRCm39) I303N probably damaging Het
Dmxl2 A G 9: 54,301,097 (GRCm39) V2338A probably benign Het
Dnah9 G T 11: 65,928,411 (GRCm39) P2086Q probably damaging Het
Dsg2 A G 18: 20,725,346 (GRCm39) I486V probably benign Het
E2f8 A G 7: 48,524,855 (GRCm39) S265P probably damaging Het
Eif1b A G 9: 120,323,296 (GRCm39) D52G probably benign Het
Etl4 A T 2: 20,790,153 (GRCm39) T602S probably benign Het
Exoc3l2 A T 7: 19,223,059 (GRCm39) probably benign Het
Fbxl6 C A 15: 76,421,173 (GRCm39) V297F probably damaging Het
Fgr T A 4: 132,725,786 (GRCm39) N398K probably benign Het
G3bp1 A G 11: 55,379,986 (GRCm39) R107G probably damaging Het
Gp2 A T 7: 119,052,155 (GRCm39) N186K probably benign Het
Hbs1l T A 10: 21,217,831 (GRCm39) L249* probably null Het
Hmgcs2 T A 3: 98,204,337 (GRCm39) L246* probably null Het
Hsp90ab1 G T 17: 45,880,254 (GRCm39) H96Q probably benign Het
Ibtk C T 9: 85,588,603 (GRCm39) V1078I probably benign Het
Ltn1 T C 16: 87,212,530 (GRCm39) D677G probably benign Het
Lyst C T 13: 13,887,405 (GRCm39) T3078I possibly damaging Het
Mamdc4 A G 2: 25,459,402 (GRCm39) F199S probably damaging Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mki67 G A 7: 135,299,592 (GRCm39) T1814I probably damaging Het
Msantd5l T A 11: 51,145,264 (GRCm39) I108F possibly damaging Het
Mttp A T 3: 137,800,763 (GRCm39) F766I probably benign Het
Nbl1 T A 4: 138,810,915 (GRCm39) probably null Het
Nmrk1 T A 19: 18,618,802 (GRCm39) L118Q probably damaging Het
Nopchap1 C T 10: 83,201,656 (GRCm39) S143L probably damaging Het
Oog3 A T 4: 143,886,082 (GRCm39) L172H probably damaging Het
Or2y11 T G 11: 49,443,260 (GRCm39) S229A probably damaging Het
Osbpl1a T G 18: 12,892,457 (GRCm39) Q332P probably damaging Het
Pik3cg A G 12: 32,243,709 (GRCm39) F921L possibly damaging Het
Plch2 T C 4: 155,069,054 (GRCm39) S1086G possibly damaging Het
Plekha5 A G 6: 140,369,942 (GRCm39) T18A possibly damaging Het
Pogz T A 3: 94,786,276 (GRCm39) S955T probably benign Het
Pot1b A T 17: 55,960,413 (GRCm39) I639N probably benign Het
Prkdc T C 16: 15,505,254 (GRCm39) I852T probably benign Het
Prps1l1 A G 12: 35,035,521 (GRCm39) K212R probably benign Het
Ptpn5 A G 7: 46,735,807 (GRCm39) Y304H probably damaging Het
Ralgapa1 A G 12: 55,822,973 (GRCm39) I281T possibly damaging Het
Rgs22 A T 15: 36,099,880 (GRCm39) Y278* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf213 T A 11: 119,333,489 (GRCm39) Y2899* probably null Het
Rttn C T 18: 89,004,197 (GRCm39) T397I possibly damaging Het
Sacs G T 14: 61,410,902 (GRCm39) probably null Het
Sbf2 G T 7: 110,060,419 (GRCm39) Q182K probably damaging Het
Sec14l5 C T 16: 4,984,968 (GRCm39) R105* probably null Het
Sh2b1 A T 7: 126,071,536 (GRCm39) D216E possibly damaging Het
Sh3gl3 A G 7: 81,920,008 (GRCm39) N72S possibly damaging Het
Slc12a1 A T 2: 125,015,619 (GRCm39) I391F probably damaging Het
Slc36a2 G A 11: 55,072,381 (GRCm39) A77V probably damaging Het
Smc2 A T 4: 52,474,987 (GRCm39) I888L probably benign Het
Smoc1 C T 12: 81,197,450 (GRCm39) T194M probably damaging Het
Sorcs1 C T 19: 50,666,630 (GRCm39) G93R probably benign Het
Sox30 T G 11: 45,882,595 (GRCm39) F542V probably damaging Het
Svep1 A G 4: 58,206,030 (GRCm39) V116A possibly damaging Het
Synj2 A G 17: 6,063,966 (GRCm39) D330G probably benign Het
Tenm3 A C 8: 48,796,384 (GRCm39) S202A possibly damaging Het
Tg C T 15: 66,601,443 (GRCm39) T151I probably benign Het
Tnfaip2 A G 12: 111,414,527 (GRCm39) E361G probably damaging Het
Tnk1 A T 11: 69,746,009 (GRCm39) D305E probably damaging Het
Tpp1 A G 7: 105,399,177 (GRCm39) L133P probably damaging Het
Trappc1 T A 11: 69,215,243 (GRCm39) M41K probably damaging Het
Tsen54 A G 11: 115,706,549 (GRCm39) D9G probably damaging Het
Ttn T A 2: 76,804,598 (GRCm39) I225F probably damaging Het
Ube4b T C 4: 149,457,298 (GRCm39) K313R probably benign Het
Vps50 T C 6: 3,555,379 (GRCm39) V425A probably damaging Het
Wbp2 A T 11: 115,971,445 (GRCm39) Y153* probably null Het
Xrn1 A G 9: 95,861,273 (GRCm39) S478G probably benign Het
Zfp354c T C 11: 50,707,969 (GRCm39) E77G probably benign Het
Zfp462 T C 4: 55,008,496 (GRCm39) M154T probably benign Het
Zfp704 A G 3: 9,539,585 (GRCm39) V255A probably damaging Het
Zfp763 G T 17: 33,238,752 (GRCm39) A131E probably benign Het
Zfp931 A T 2: 177,711,651 (GRCm39) V32E probably null 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
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
R8385:Brap UTSW 5 121,823,197 (GRCm39) missense probably benign 0.05
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'- TGCAATGTTGTAGTTTCTCTGTCAC -3'
(R):5'- AGTCCACAGTACCTAAGGGC -3'

Sequencing Primer
(F):5'- ACAATTTCCCTTGCACTTGAAATTC -3'
(R):5'- TTGACCTCATTTCGGGCACAGAG -3'
Posted On 2014-09-18