Incidental Mutation 'R1772:Btrc'
ID 196762
Institutional Source Beutler Lab
Gene Symbol Btrc
Ensembl Gene ENSMUSG00000025217
Gene Name beta-transducin repeat containing protein
Synonyms Beta-Trcp1, Fbw1a, SCF b-TRCP, beta-TrCP, Slimb
MMRRC Submission 039803-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1772 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 45352173-45518452 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 45501100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 218 (K218Q)
Ref Sequence ENSEMBL: ENSMUSP00000107567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065601] [ENSMUST00000111936] [ENSMUST00000223764] [ENSMUST00000224478]
AlphaFold Q3ULA2
Predicted Effect possibly damaging
Transcript: ENSMUST00000065601
AA Change: K254Q

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000070728
Gene: ENSMUSG00000025217
AA Change: K254Q

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000111936
AA Change: K218Q

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107567
Gene: ENSMUSG00000025217
AA Change: K218Q

DomainStartEndE-ValueType
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: ENSMUST00000223764
Predicted Effect probably damaging
Transcript: ENSMUST00000224478
AA Change: K155Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225662
Meta Mutation Damage Score 0.3718 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.5%
Validation Efficiency 97% (107/110)
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb G T 10: 10,258,465 (GRCm39) probably benign Het
Aldh1a7 T C 19: 20,693,383 (GRCm39) K179E probably damaging Het
Angptl7 G A 4: 148,581,883 (GRCm39) R168C probably damaging Het
Atp8b1 T A 18: 64,706,563 (GRCm39) I208F possibly damaging Het
Bco1 A G 8: 117,857,347 (GRCm39) Y438C probably benign Het
Bltp1 T C 3: 37,013,581 (GRCm39) S1937P probably damaging Het
Cct8l1 G A 5: 25,722,697 (GRCm39) V471M probably damaging Het
Cd180 C T 13: 102,842,750 (GRCm39) L599F probably benign Het
Cd300e T C 11: 114,945,344 (GRCm39) N150S probably benign Het
Clcn1 C A 6: 42,271,079 (GRCm39) T281K probably damaging Het
Cnnm3 T C 1: 36,558,038 (GRCm39) S417P probably damaging Het
Cspg4 T A 9: 56,804,776 (GRCm39) S1862R probably benign Het
Cspg5 A T 9: 110,091,206 (GRCm39) N432Y probably damaging Het
Cyp2r1 T A 7: 114,152,451 (GRCm39) I169F probably damaging Het
D130043K22Rik T A 13: 25,059,982 (GRCm39) S618T probably damaging Het
Diaph3 G A 14: 87,202,985 (GRCm39) P635L probably damaging Het
Dlg1 A G 16: 31,484,485 (GRCm39) I38V possibly damaging Het
Dlk1 T G 12: 109,425,685 (GRCm39) V186G probably damaging Het
Dmxl2 T C 9: 54,330,508 (GRCm39) probably benign Het
Dnajc17 G A 2: 119,014,164 (GRCm39) R132* probably null Het
Dock9 G T 14: 121,847,210 (GRCm39) N1042K probably benign Het
Dok7 A T 5: 35,243,994 (GRCm39) Q511L probably damaging Het
Espnl G A 1: 91,272,325 (GRCm39) E562K possibly damaging Het
Evi5 G A 5: 107,943,707 (GRCm39) T562I probably benign Het
Exd2 T A 12: 80,536,253 (GRCm39) D294E probably benign Het
Fbn1 A T 2: 125,245,148 (GRCm39) D246E possibly damaging Het
Fbxw16 A T 9: 109,268,650 (GRCm39) W247R possibly damaging Het
Fcer1a A G 1: 173,053,004 (GRCm39) I64T probably benign Het
Fcgbp C A 7: 27,804,600 (GRCm39) Q1903K possibly damaging Het
Fmn1 A G 2: 113,195,700 (GRCm39) S467G unknown Het
Fndc7 T A 3: 108,777,850 (GRCm39) T369S probably damaging Het
Fnta T C 8: 26,490,994 (GRCm39) probably benign Het
Gak A T 5: 108,754,758 (GRCm39) H289Q probably damaging Het
Gas2l3 A G 10: 89,252,876 (GRCm39) probably benign Het
Gbp8 T C 5: 105,163,987 (GRCm39) N437S probably benign Het
Gk5 G A 9: 96,032,850 (GRCm39) probably null Het
Hid1 A T 11: 115,239,299 (GRCm39) V788E probably damaging Het
Hmcn1 T C 1: 150,439,319 (GRCm39) T5505A probably damaging Het
Igf1r T A 7: 67,844,822 (GRCm39) M865K probably benign Het
Katnal2 G A 18: 77,090,233 (GRCm39) T258I probably damaging Het
Kdm3b A T 18: 34,936,557 (GRCm39) I280L probably benign Het
Kif24 A G 4: 41,409,787 (GRCm39) V382A probably damaging Het
Kif2a A T 13: 107,114,640 (GRCm39) probably benign Het
Klhl10 A G 11: 100,333,022 (GRCm39) I56V probably benign Het
Klk6 C T 7: 43,478,695 (GRCm39) Q201* probably null Het
Klra3 A T 6: 130,300,671 (GRCm39) S233T probably benign Het
Krt9 A T 11: 100,082,131 (GRCm39) M223K probably damaging Het
Lama4 G A 10: 38,936,220 (GRCm39) E632K probably benign Het
Lamb1 T C 12: 31,328,524 (GRCm39) Y163H probably damaging Het
Lipo3 A G 19: 33,764,821 (GRCm39) I11T probably benign Het
Lix1l T A 3: 96,531,207 (GRCm39) H333Q possibly damaging Het
Mal2 T A 15: 54,451,783 (GRCm39) M68K probably damaging Het
Map2k2 T C 10: 80,956,934 (GRCm39) I104T probably damaging Het
Matn2 T C 15: 34,428,931 (GRCm39) V765A probably damaging Het
Mptx2 T A 1: 173,102,040 (GRCm39) K216N probably damaging Het
Mup5 C T 4: 61,750,578 (GRCm39) probably null Het
Mycbp2 A G 14: 103,419,855 (GRCm39) Y2494H probably damaging Het
Myh3 G A 11: 66,990,220 (GRCm39) D1622N probably benign Het
Myo6 T C 9: 80,177,331 (GRCm39) I609T possibly damaging Het
Ndst1 G A 18: 60,835,909 (GRCm39) T458I probably damaging Het
Neb A T 2: 52,125,689 (GRCm39) Y3622N probably damaging Het
Ntm A G 9: 29,090,396 (GRCm39) Y108H probably benign Het
Or13c3 T G 4: 52,855,730 (GRCm39) K261T probably benign Het
Or1a1b T C 11: 74,097,398 (GRCm39) I215V probably benign Het
Or52e19 T C 7: 102,959,449 (GRCm39) Y174H possibly damaging Het
Pappa2 T A 1: 158,641,938 (GRCm39) I1373F possibly damaging Het
Pear1 A G 3: 87,661,799 (GRCm39) probably benign Het
Phc3 C T 3: 31,015,969 (GRCm39) A81T probably damaging Het
Pmepa1 A G 2: 173,076,153 (GRCm39) S105P probably damaging Het
Ppp6r1 T C 7: 4,645,030 (GRCm39) I248V probably benign Het
Prdm4 G A 10: 85,729,256 (GRCm39) T717I probably damaging Het
Prom1 T C 5: 44,168,566 (GRCm39) T669A probably benign Het
Ptpn5 T A 7: 46,740,516 (GRCm39) I96F probably benign Het
Ptpro T C 6: 137,407,741 (GRCm39) L922P probably damaging Het
Reck A T 4: 43,890,982 (GRCm39) H40L probably benign Het
Rreb1 T A 13: 38,114,899 (GRCm39) C753S probably benign Het
Sacs T C 14: 61,448,346 (GRCm39) L3464P probably damaging Het
Samsn1 A T 16: 75,667,663 (GRCm39) D304E probably benign Het
Scgb2b3 T C 7: 31,059,621 (GRCm39) N51S possibly damaging Het
Shroom3 T C 5: 93,088,515 (GRCm39) S341P probably damaging Het
Siglece T C 7: 43,308,717 (GRCm39) D212G probably damaging Het
Sirpa A G 2: 129,458,376 (GRCm39) T331A probably damaging Het
Spata21 T C 4: 140,838,607 (GRCm39) S553P possibly damaging Het
Speer4b T A 5: 27,705,236 (GRCm39) probably benign Het
Srgap2 T C 1: 131,247,376 (GRCm39) D552G probably damaging Het
Stab2 A G 10: 86,790,098 (GRCm39) I556T probably benign Het
Strip1 C T 3: 107,534,047 (GRCm39) probably null Het
Stxbp6 T A 12: 44,949,653 (GRCm39) D92V probably damaging Het
Styx A G 14: 45,594,215 (GRCm39) K46E probably damaging Het
Supt20 T A 3: 54,617,841 (GRCm39) V314E probably damaging Het
Syne2 T A 12: 75,985,503 (GRCm39) D1650E probably benign Het
Szt2 T A 4: 118,262,714 (GRCm39) K21M probably damaging Het
Tbx4 A T 11: 85,802,033 (GRCm39) H222L probably damaging Het
Tcstv1b T A 13: 120,634,725 (GRCm39) D2E probably benign Het
Tmx3 A T 18: 90,551,121 (GRCm39) I254L probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpv2 A T 11: 62,485,052 (GRCm39) probably benign Het
Ubap2 A G 4: 41,202,380 (GRCm39) S683P probably benign Het
Ube2d3 C T 3: 135,170,972 (GRCm39) R139W probably benign Het
Ubox5 G T 2: 130,433,794 (GRCm39) Q518K probably benign Het
Usp42 T C 5: 143,702,857 (GRCm39) N588S probably damaging Het
Vars2 G A 17: 35,970,976 (GRCm39) T618M probably damaging Het
Wfdc17 A T 11: 83,595,730 (GRCm39) N65Y probably damaging Het
Zbtb38 G A 9: 96,570,094 (GRCm39) P330L probably damaging Het
Zfp385a C T 15: 103,224,308 (GRCm39) probably null Het
Zfp637 T A 6: 117,822,373 (GRCm39) L167H probably damaging Het
Other mutations in Btrc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Btrc APN 19 45,515,704 (GRCm39) missense probably damaging 0.99
IGL01691:Btrc APN 19 45,501,117 (GRCm39) missense probably benign 0.00
IGL02551:Btrc APN 19 45,411,573 (GRCm39) missense possibly damaging 0.83
IGL02719:Btrc APN 19 45,491,589 (GRCm39) missense probably damaging 1.00
IGL02852:Btrc APN 19 45,501,095 (GRCm39) nonsense probably null
IGL03128:Btrc APN 19 45,501,959 (GRCm39) missense probably damaging 1.00
IGL03267:Btrc APN 19 45,507,262 (GRCm39) missense probably damaging 1.00
R0145:Btrc UTSW 19 45,411,612 (GRCm39) missense probably damaging 0.97
R0750:Btrc UTSW 19 45,491,585 (GRCm39) missense probably damaging 1.00
R1466:Btrc UTSW 19 45,501,821 (GRCm39) splice site probably benign
R1584:Btrc UTSW 19 45,501,821 (GRCm39) splice site probably benign
R1882:Btrc UTSW 19 45,515,839 (GRCm39) missense probably damaging 1.00
R1959:Btrc UTSW 19 45,515,782 (GRCm39) missense probably damaging 1.00
R1961:Btrc UTSW 19 45,515,782 (GRCm39) missense probably damaging 1.00
R2483:Btrc UTSW 19 45,504,497 (GRCm39) missense probably damaging 1.00
R4365:Btrc UTSW 19 45,501,919 (GRCm39) missense probably damaging 1.00
R4812:Btrc UTSW 19 45,411,603 (GRCm39) missense possibly damaging 0.83
R4883:Btrc UTSW 19 45,445,026 (GRCm39) missense probably benign 0.09
R5321:Btrc UTSW 19 45,496,197 (GRCm39) missense probably damaging 1.00
R7203:Btrc UTSW 19 45,501,967 (GRCm39) splice site probably null
R7528:Btrc UTSW 19 45,491,525 (GRCm39) missense possibly damaging 0.95
R8737:Btrc UTSW 19 45,496,198 (GRCm39) missense probably damaging 1.00
R9603:Btrc UTSW 19 45,459,526 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AAATCACCTGACCCTCATGCCTTG -3'
(R):5'- AGGAAAGCTGCAATCCTTCTCCAC -3'

Sequencing Primer
(F):5'- CCTTGCCAGGCCAGTTAATG -3'
(R):5'- ACCACTTGGCAAATGTCTGG -3'
Posted On 2014-05-23