Incidental Mutation 'R3937:Tbpl2'
ID 307200
Institutional Source Beutler Lab
Gene Symbol Tbpl2
Ensembl Gene ENSMUSG00000061809
Gene Name TATA box binding protein like 2
Synonyms Trf3, LOC227606
MMRRC Submission 040921-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.380) question?
Stock # R3937 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 23961733-23986607 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 23977151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 289 (R289Q)
Ref Sequence ENSEMBL: ENSMUSP00000079309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080453] [ENSMUST00000153338]
AlphaFold Q6SJ95
Predicted Effect probably benign
Transcript: ENSMUST00000080453
AA Change: R289Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000079309
Gene: ENSMUSG00000061809
AA Change: R289Q

DomainStartEndE-ValueType
Pfam:TBP 173 255 1.2e-33 PFAM
Pfam:TBP 263 347 1.6e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153338
AA Change: R288Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000120310
Gene: ENSMUSG00000061809
AA Change: R288Q

DomainStartEndE-ValueType
Pfam:TBP 171 255 3.1e-34 PFAM
Pfam:TBP 260 346 8.3e-36 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (60/60)
MGI Phenotype PHENOTYPE: Female mice homozygous for a knock-out allele exhibit infertility due to impaired folliculogenesis before or during secondary follicle development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T G 4: 148,026,510 (GRCm39) S343R possibly damaging Het
Abca8b G T 11: 109,865,393 (GRCm39) P355T probably benign Het
Abhd15 T C 11: 77,406,764 (GRCm39) V247A probably benign Het
Adamts1 C T 16: 85,592,507 (GRCm39) V634M possibly damaging Het
BC049715 T C 6: 136,817,453 (GRCm39) I231T possibly damaging Het
Chpf A T 1: 75,454,184 (GRCm39) V198E probably damaging Het
Cp C T 3: 20,025,198 (GRCm39) P386S probably damaging Het
Cth A G 3: 157,625,677 (GRCm39) I107T possibly damaging Het
Ctrc T C 4: 141,567,632 (GRCm39) D157G probably damaging Het
D630003M21Rik A G 2: 158,042,280 (GRCm39) Y889H probably damaging Het
Elavl3 A G 9: 21,930,040 (GRCm39) V288A probably damaging Het
Esyt3 A T 9: 99,218,245 (GRCm39) I130K probably benign Het
F13a1 A T 13: 37,100,875 (GRCm39) V423D probably damaging Het
Faf1 T C 4: 109,614,889 (GRCm39) probably benign Het
Fam227b A T 2: 125,968,980 (GRCm39) D31E probably benign Het
Fastkd2 A G 1: 63,776,995 (GRCm39) D377G possibly damaging Het
Fbxl6 G A 15: 76,420,824 (GRCm39) R384* probably null Het
Fcamr A T 1: 130,732,313 (GRCm39) H44L probably damaging Het
Fhod3 A G 18: 25,223,818 (GRCm39) N1055D probably benign Het
Garem1 A T 18: 21,281,863 (GRCm39) Y164* probably null Het
Gemin4 C T 11: 76,103,714 (GRCm39) C349Y probably damaging Het
Gnal A G 18: 67,268,441 (GRCm39) probably null Het
Hacl1 T C 14: 31,356,148 (GRCm39) probably benign Het
Hectd3 T C 4: 116,855,727 (GRCm39) V409A probably benign Het
Hps6 A G 19: 45,992,492 (GRCm39) E143G probably damaging Het
Hspa4 T A 11: 53,161,776 (GRCm39) I459L probably benign Het
Ighv3-6 G A 12: 114,252,061 (GRCm39) Q21* probably null Het
Ints3 G A 3: 90,311,294 (GRCm39) R438* probably null Het
Jmjd6 T C 11: 116,731,991 (GRCm39) N237D probably benign Het
Lrrk2 C A 15: 91,662,707 (GRCm39) T1912K probably damaging Het
Mdga2 C A 12: 67,267,980 (GRCm39) probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Myh6 T C 14: 55,200,512 (GRCm39) D203G probably benign Het
Myo5b T C 18: 74,849,108 (GRCm39) S1116P probably damaging Het
Nalcn T A 14: 123,607,357 (GRCm39) D704V probably benign Het
Nes A T 3: 87,878,543 (GRCm39) M12L probably benign Het
Or10ak7 T C 4: 118,791,880 (GRCm39) D53G probably damaging Het
Or10al2 A G 17: 37,983,858 (GRCm39) T315A probably benign Het
Or2f1 T A 6: 42,721,010 (GRCm39) I13N probably damaging Het
Or5j3 T A 2: 86,128,360 (GRCm39) S67T probably damaging Het
Pcdha2 T C 18: 37,074,376 (GRCm39) V669A probably benign Het
Pdhx T C 2: 102,852,564 (GRCm39) N433S probably damaging Het
Pip5kl1 A G 2: 32,469,124 (GRCm39) R261G probably damaging Het
Plekhj1 A G 10: 80,633,609 (GRCm39) I76T probably damaging Het
Ppp1r3a A T 6: 14,719,073 (GRCm39) S614T probably damaging Het
Ptpru T C 4: 131,501,615 (GRCm39) N1207S probably damaging Het
Ranbp2 T C 10: 58,312,294 (GRCm39) F1005L probably benign Het
Rims2 A G 15: 39,301,241 (GRCm39) E324G probably damaging Het
Sema6d A T 2: 124,498,770 (GRCm39) I227L probably benign Het
Smarcad1 T G 6: 65,091,320 (GRCm39) L1014V probably damaging Het
Spag9 T G 11: 93,935,305 (GRCm39) S39A possibly damaging Het
Spag9 T C 11: 93,935,243 (GRCm39) V18A possibly damaging Het
Sun2 T C 15: 79,618,356 (GRCm39) K268E probably benign Het
Tcea3 T A 4: 135,982,454 (GRCm39) probably benign Het
Tmem185a C T X: 69,505,792 (GRCm39) probably null Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Vmn1r212 A T 13: 23,067,358 (GRCm39) V325E unknown Het
Vmn1r35 T A 6: 66,656,057 (GRCm39) R204S probably damaging Het
Vmn2r57 A G 7: 41,077,554 (GRCm39) M204T probably damaging Het
Wdfy3 A T 5: 102,092,105 (GRCm39) Y411* probably null Het
Zfp335 G T 2: 164,752,620 (GRCm39) D41E probably damaging Het
Other mutations in Tbpl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01540:Tbpl2 APN 2 23,984,985 (GRCm39) missense probably benign 0.08
IGL02273:Tbpl2 APN 2 23,986,531 (GRCm39) missense probably benign 0.00
IGL02887:Tbpl2 APN 2 23,983,888 (GRCm39) missense probably damaging 0.99
IGL02969:Tbpl2 APN 2 23,981,105 (GRCm39) missense probably damaging 1.00
IGL03075:Tbpl2 APN 2 23,961,997 (GRCm39) utr 3 prime probably benign
IGL03107:Tbpl2 APN 2 23,983,845 (GRCm39) missense probably benign 0.01
IGL03118:Tbpl2 APN 2 23,977,301 (GRCm39) missense probably benign 0.22
R0322:Tbpl2 UTSW 2 23,984,991 (GRCm39) missense probably benign 0.00
R1208:Tbpl2 UTSW 2 23,984,783 (GRCm39) missense probably benign 0.02
R1208:Tbpl2 UTSW 2 23,984,783 (GRCm39) missense probably benign 0.02
R1699:Tbpl2 UTSW 2 23,985,057 (GRCm39) missense probably benign 0.00
R1987:Tbpl2 UTSW 2 23,984,744 (GRCm39) missense probably benign
R2040:Tbpl2 UTSW 2 23,984,871 (GRCm39) missense probably benign 0.00
R3500:Tbpl2 UTSW 2 23,977,151 (GRCm39) missense probably benign 0.00
R3819:Tbpl2 UTSW 2 23,966,024 (GRCm39) missense probably damaging 1.00
R4995:Tbpl2 UTSW 2 23,983,872 (GRCm39) missense possibly damaging 0.94
R5033:Tbpl2 UTSW 2 23,977,170 (GRCm39) missense probably benign 0.01
R5606:Tbpl2 UTSW 2 23,977,245 (GRCm39) missense possibly damaging 0.67
R6049:Tbpl2 UTSW 2 23,985,004 (GRCm39) missense possibly damaging 0.75
R6153:Tbpl2 UTSW 2 23,966,028 (GRCm39) missense probably damaging 1.00
R6260:Tbpl2 UTSW 2 23,984,898 (GRCm39) missense possibly damaging 0.94
R6347:Tbpl2 UTSW 2 23,984,715 (GRCm39) missense probably benign 0.35
R6936:Tbpl2 UTSW 2 23,984,953 (GRCm39) missense probably benign 0.00
R7378:Tbpl2 UTSW 2 23,984,712 (GRCm39) missense probably benign 0.14
R7382:Tbpl2 UTSW 2 23,977,326 (GRCm39) splice site probably null
R7958:Tbpl2 UTSW 2 23,985,079 (GRCm39) splice site probably null
R9189:Tbpl2 UTSW 2 23,966,030 (GRCm39) missense probably damaging 1.00
R9397:Tbpl2 UTSW 2 23,966,070 (GRCm39) missense possibly damaging 0.81
R9474:Tbpl2 UTSW 2 23,984,650 (GRCm39) missense probably benign 0.02
R9491:Tbpl2 UTSW 2 23,986,532 (GRCm39) missense probably benign
R9525:Tbpl2 UTSW 2 23,986,547 (GRCm39) start codon destroyed probably benign
R9597:Tbpl2 UTSW 2 23,977,296 (GRCm39) missense probably damaging 1.00
R9609:Tbpl2 UTSW 2 23,977,197 (GRCm39) missense probably damaging 0.99
R9747:Tbpl2 UTSW 2 23,981,104 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ATTTCAAGACACTGGCTTCCC -3'
(R):5'- TGATGCTTGCATTTCCTCAGTG -3'

Sequencing Primer
(F):5'- AAGTTGGGCACAGCATCTTGATC -3'
(R):5'- CTTGCATTTCCTCAGTGAAGAG -3'
Posted On 2015-04-17