Incidental Mutation 'R1584:Btrc'
ID 177398
Institutional Source Beutler Lab
Gene Symbol Btrc
Ensembl Gene ENSMUSG00000025217
Gene Name beta-transducin repeat containing protein
Synonyms beta-TrCP, Fbw1a, SCF b-TRCP, Slimb, Beta-Trcp1
MMRRC Submission 039621-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1584 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 45363734-45530013 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 45513382 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065601] [ENSMUST00000111936] [ENSMUST00000224478]
AlphaFold Q3ULA2
Predicted Effect probably benign
Transcript: ENSMUST00000065601
SMART Domains Protein: ENSMUSP00000070728
Gene: ENSMUSG00000025217

Beta-TrCP_D 138 177 3.32e-25 SMART
FBOX 189 228 5.83e-6 SMART
WD40 292 329 7.92e-3 SMART
WD40 332 369 8.68e-9 SMART
WD40 372 409 5.31e-4 SMART
WD40 415 452 5.18e-7 SMART
WD40 455 492 3.93e-7 SMART
WD40 495 532 8.42e-7 SMART
WD40 544 581 4.62e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111936
SMART Domains Protein: ENSMUSP00000107567
Gene: ENSMUSG00000025217

Beta-TrCP_D 102 141 3.32e-25 SMART
FBOX 153 192 5.83e-6 SMART
WD40 256 293 7.92e-3 SMART
WD40 296 333 8.68e-9 SMART
WD40 336 373 5.31e-4 SMART
WD40 379 416 5.18e-7 SMART
WD40 419 456 3.93e-7 SMART
WD40 459 496 8.42e-7 SMART
WD40 508 545 4.62e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225662
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.2%
Validation Efficiency 99% (106/107)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012]
PHENOTYPE: Embryonic fibroblasts from homozygotes show an increase in polyploidy and apoptosis and decreased cell proliferation. In a second allele, homozygous mutation results in reduced male fertility and abnormal male meiosis with oligozoospermia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd15 C T 11: 77,515,410 (GRCm38) A71V probably damaging Het
Ager A G 17: 34,600,718 (GRCm38) E357G probably damaging Het
Akap13 T C 7: 75,729,049 (GRCm38) S2095P possibly damaging Het
Ampd2 T C 3: 108,080,337 (GRCm38) probably null Het
Arrdc1 T C 2: 24,925,795 (GRCm38) I398V probably benign Het
Ash1l T C 3: 89,052,065 (GRCm38) Y2250H probably damaging Het
Brca2 G A 5: 150,552,258 (GRCm38) A2478T probably damaging Het
C8g C T 2: 25,500,216 (GRCm38) A6T probably benign Het
Ccdc121rt3 C T 5: 112,354,764 (GRCm38) G358D probably benign Het
Cdc123 T A 2: 5,803,977 (GRCm38) probably null Het
Cilp G A 9: 65,279,715 (GRCm38) G1031S probably damaging Het
Cldn5 G A 16: 18,777,477 (GRCm38) G161D probably damaging Het
Cndp2 G A 18: 84,677,315 (GRCm38) probably benign Het
Cntnap1 C A 11: 101,180,360 (GRCm38) F366L probably damaging Het
Corin C T 5: 72,302,790 (GRCm38) probably null Het
Ctdspl2 G A 2: 122,003,929 (GRCm38) R332K probably benign Het
Dido1 G A 2: 180,662,328 (GRCm38) P1261L probably damaging Het
Dop1a A T 9: 86,548,172 (GRCm38) R2200* probably null Het
Dtx3l G A 16: 35,932,728 (GRCm38) L503F probably damaging Het
Dysf A G 6: 84,067,047 (GRCm38) K259R probably benign Het
Enpep T A 3: 129,319,448 (GRCm38) T203S probably damaging Het
Epha2 T A 4: 141,322,047 (GRCm38) probably null Het
Fam20b T C 1: 156,686,188 (GRCm38) probably benign Het
Fbln7 A G 2: 128,877,429 (GRCm38) T49A probably benign Het
Fgf14 T A 14: 124,676,539 (GRCm38) K60M probably benign Het
Fhad1 T C 4: 141,985,511 (GRCm38) I206V probably benign Het
Figla A G 6: 86,020,782 (GRCm38) E164G probably benign Het
Gimap4 C A 6: 48,691,282 (GRCm38) Q196K probably benign Het
Glcci1 C T 6: 8,537,964 (GRCm38) T6I probably damaging Het
Grk4 T C 5: 34,694,750 (GRCm38) S113P probably benign Het
Hectd3 G A 4: 116,996,566 (GRCm38) E220K probably damaging Het
Hecw1 A G 13: 14,340,743 (GRCm38) probably null Het
Helz2 G A 2: 181,236,297 (GRCm38) P903S probably damaging Het
Hydin T C 8: 110,580,815 (GRCm38) V3942A probably benign Het
Irs1 G T 1: 82,289,444 (GRCm38) H350Q probably benign Het
Kdm1b G A 13: 47,064,054 (GRCm38) E46K probably damaging Het
Klf11 A G 12: 24,655,305 (GRCm38) N253D probably damaging Het
Klhl23 T C 2: 69,833,888 (GRCm38) I527T probably damaging Het
Lars1 G A 18: 42,210,050 (GRCm38) R1101C probably damaging Het
Lcn4 G A 2: 26,668,576 (GRCm38) P166L probably damaging Het
Letmd1 T A 15: 100,472,542 (GRCm38) probably null Het
Lilra6 T A 7: 3,912,662 (GRCm38) D358V probably damaging Het
Mmrn2 A G 14: 34,375,685 (GRCm38) D24G probably benign Het
Mroh2b G T 15: 4,925,684 (GRCm38) D720Y probably damaging Het
Mrps35 C T 6: 147,055,984 (GRCm38) T169M probably damaging Het
Muc4 G A 16: 32,753,595 (GRCm38) G1157D probably benign Het
Naga T A 15: 82,334,788 (GRCm38) M237L probably null Het
Nfu1 G A 6: 87,020,809 (GRCm38) E225K probably damaging Het
Nin A T 12: 70,042,669 (GRCm38) L1324Q probably benign Het
Oc90 T A 15: 65,897,720 (GRCm38) Y96F probably damaging Het
Or4a80 C T 2: 89,752,267 (GRCm38) C187Y probably damaging Het
Or5b116 T C 19: 13,445,659 (GRCm38) Y216H probably damaging Het
Or5m11b T A 2: 85,975,995 (GRCm38) F251I probably damaging Het
Or6ae1 A G 7: 140,162,203 (GRCm38) V249A probably damaging Het
Or8c9 G A 9: 38,330,131 (GRCm38) M181I possibly damaging Het
Orc4 A T 2: 48,909,494 (GRCm38) C324S possibly damaging Het
Pals1 A G 12: 78,829,727 (GRCm38) I482V probably benign Het
Pdzrn4 T C 15: 92,770,537 (GRCm38) S857P probably benign Het
Plec C T 15: 76,185,908 (GRCm38) E1000K possibly damaging Het
Plvap A T 8: 71,508,481 (GRCm38) V149D probably benign Het
Pm20d2 A T 4: 33,174,772 (GRCm38) N371K probably damaging Het
Ppp2r5d A G 17: 46,684,684 (GRCm38) Y480H probably benign Het
Prkd1 A T 12: 50,425,515 (GRCm38) V205E probably damaging Het
R3hdm2 A G 10: 127,476,690 (GRCm38) I434V probably benign Het
Rel T A 11: 23,745,546 (GRCm38) T246S probably damaging Het
Rnf215 T A 11: 4,136,719 (GRCm38) V172E probably damaging Het
Scara3 T C 14: 65,921,104 (GRCm38) D485G probably damaging Het
Sec16a A T 2: 26,431,157 (GRCm38) Y1308N probably damaging Het
Sis A T 3: 72,932,060 (GRCm38) D824E possibly damaging Het
Slc27a4 T A 2: 29,811,190 (GRCm38) V331E probably damaging Het
Srebf1 C T 11: 60,200,702 (GRCm38) R999H probably benign Het
St3gal3 A C 4: 118,107,662 (GRCm38) M1R probably null Het
Tapbp C T 17: 33,919,940 (GRCm38) probably null Het
Tep1 A T 14: 50,866,037 (GRCm38) N265K probably damaging Het
Thoc2l T A 5: 104,518,257 (GRCm38) I215N probably damaging Het
Tln2 T A 9: 67,296,414 (GRCm38) N470I probably damaging Het
Trim43a G T 9: 88,588,158 (GRCm38) W339L probably damaging Het
Ttc22 T C 4: 106,622,780 (GRCm38) F77S probably damaging Het
Ttc8 A G 12: 98,920,764 (GRCm38) E32G probably benign Het
Uhmk1 A T 1: 170,208,653 (GRCm38) probably null Het
Usp17lc A G 7: 103,418,941 (GRCm38) H481R possibly damaging Het
Vamp8 G A 6: 72,385,634 (GRCm38) T35M probably damaging Het
Vill A G 9: 119,065,586 (GRCm38) Y53C probably damaging Het
Vmn1r222 A T 13: 23,232,762 (GRCm38) S94T probably damaging Het
Vmn2r93 A G 17: 18,305,151 (GRCm38) Y357C possibly damaging Het
Vps13c T A 9: 67,893,112 (GRCm38) V536D possibly damaging Het
Vrtn G A 12: 84,650,081 (GRCm38) C535Y probably damaging Het
Vwa3a A G 7: 120,768,165 (GRCm38) Y181C probably damaging Het
Wfikkn2 G A 11: 94,238,895 (GRCm38) T140I probably damaging Het
Ykt6 T A 11: 5,962,349 (GRCm38) F101I probably damaging Het
Zfp277 C T 12: 40,378,826 (GRCm38) G174D probably benign Het
Zfp638 A G 6: 83,978,065 (GRCm38) probably null Het
Zzef1 C T 11: 72,924,679 (GRCm38) P2942S probably damaging Het
Other mutations in Btrc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Btrc APN 19 45,527,265 (GRCm38) missense probably damaging 0.99
IGL01691:Btrc APN 19 45,512,678 (GRCm38) missense probably benign 0.00
IGL02551:Btrc APN 19 45,423,134 (GRCm38) missense possibly damaging 0.83
IGL02719:Btrc APN 19 45,503,150 (GRCm38) missense probably damaging 1.00
IGL02852:Btrc APN 19 45,512,656 (GRCm38) nonsense probably null
IGL03128:Btrc APN 19 45,513,520 (GRCm38) missense probably damaging 1.00
IGL03267:Btrc APN 19 45,518,823 (GRCm38) missense probably damaging 1.00
R0145:Btrc UTSW 19 45,423,173 (GRCm38) missense probably damaging 0.97
R0750:Btrc UTSW 19 45,503,146 (GRCm38) missense probably damaging 1.00
R1466:Btrc UTSW 19 45,513,382 (GRCm38) splice site probably benign
R1772:Btrc UTSW 19 45,512,661 (GRCm38) missense probably damaging 0.98
R1882:Btrc UTSW 19 45,527,400 (GRCm38) missense probably damaging 1.00
R1959:Btrc UTSW 19 45,527,343 (GRCm38) missense probably damaging 1.00
R1961:Btrc UTSW 19 45,527,343 (GRCm38) missense probably damaging 1.00
R2483:Btrc UTSW 19 45,516,058 (GRCm38) missense probably damaging 1.00
R4365:Btrc UTSW 19 45,513,480 (GRCm38) missense probably damaging 1.00
R4812:Btrc UTSW 19 45,423,164 (GRCm38) missense possibly damaging 0.83
R4883:Btrc UTSW 19 45,456,587 (GRCm38) missense probably benign 0.09
R5321:Btrc UTSW 19 45,507,758 (GRCm38) missense probably damaging 1.00
R7203:Btrc UTSW 19 45,513,528 (GRCm38) splice site probably null
R7528:Btrc UTSW 19 45,503,086 (GRCm38) missense possibly damaging 0.95
R8737:Btrc UTSW 19 45,507,759 (GRCm38) missense probably damaging 1.00
R9603:Btrc UTSW 19 45,471,087 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer

Sequencing Primer
(F):5'- cccccaaccataaaacattatcc -3'
Posted On 2014-04-24