Incidental Mutation 'R5729:Tbc1d2b'
ID 452667
Institutional Source Beutler Lab
Gene Symbol Tbc1d2b
Ensembl Gene ENSMUSG00000037410
Gene Name TBC1 domain family, member 2B
Synonyms 1810061M12Rik
MMRRC Submission 043346-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5729 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 90084100-90152861 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 90089925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glycine at position 868 (A868G)
Ref Sequence ENSEMBL: ENSMUSP00000045413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041767] [ENSMUST00000167122]
AlphaFold Q3U0J8
Predicted Effect probably benign
Transcript: ENSMUST00000041767
AA Change: A868G

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000045413
Gene: ENSMUSG00000037410
AA Change: A868G

DomainStartEndE-ValueType
PH 35 141 2.66e-9 SMART
low complexity region 324 334 N/A INTRINSIC
low complexity region 343 356 N/A INTRINSIC
Blast:TBC 358 601 2e-25 BLAST
TBC 661 881 3.75e-60 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167122
SMART Domains Protein: ENSMUSP00000129292
Gene: ENSMUSG00000032363

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Pep_M12B_propep 33 174 1.4e-28 PFAM
low complexity region 203 220 N/A INTRINSIC
Pfam:Reprolysin_5 224 411 7.2e-17 PFAM
Pfam:Reprolysin_4 224 425 3.6e-9 PFAM
Pfam:Reprolysin 226 437 2.9e-30 PFAM
Pfam:Reprolysin_2 244 427 2.2e-12 PFAM
Pfam:Reprolysin_3 248 383 3.7e-13 PFAM
Blast:ACR 442 513 5e-15 BLAST
TSP1 526 578 4.9e-13 SMART
Pfam:ADAM_spacer1 683 794 1.1e-36 PFAM
TSP1 807 863 1.45e-6 SMART
TSP1 866 908 2.41e-1 SMART
TSP1 929 978 1.45e-6 SMART
low complexity region 1011 1025 N/A INTRINSIC
low complexity region 1211 1233 N/A INTRINSIC
TSP1 1385 1435 2.4e-2 SMART
TSP1 1436 1493 1.8e-2 SMART
TSP1 1495 1542 4.82e-2 SMART
TSP1 1543 1600 1.39e-3 SMART
Meta Mutation Damage Score 0.0799 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (62/64)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss2 A T 1: 177,623,824 (GRCm39) V46E possibly damaging Het
Aldoart2 T C 12: 55,612,690 (GRCm39) V205A probably benign Het
Atp1a2 A G 1: 172,120,938 (GRCm39) S45P probably damaging Het
Atp4a A G 7: 30,411,851 (GRCm39) K29E possibly damaging Het
AU040320 T A 4: 126,724,208 (GRCm39) D428E probably damaging Het
Bend7 T C 2: 4,768,085 (GRCm39) L347P probably damaging Het
Cacna2d1 T A 5: 16,140,037 (GRCm39) L9* probably null Het
Ccdc103 A T 11: 102,773,904 (GRCm39) I50F probably damaging Het
Cdc5l T C 17: 45,737,495 (GRCm39) I88V probably benign Het
Cracr2a T C 6: 127,584,199 (GRCm39) V86A possibly damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dgkd C T 1: 87,864,054 (GRCm39) Q90* probably null Het
Dnajc21 A T 15: 10,449,682 (GRCm39) D446E probably benign Het
Fam13a T G 6: 58,916,292 (GRCm39) R648S probably damaging Het
Gabrg2 A G 11: 41,858,450 (GRCm39) V226A probably damaging Het
Gm5499 A T 17: 87,385,944 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Irf2bp1 G T 7: 18,739,172 (GRCm39) E271* probably null Het
Krt86 T G 15: 101,374,429 (GRCm39) V274G probably benign Het
Lats2 A T 14: 57,960,192 (GRCm39) C151S probably benign Het
Mapk3 A T 7: 126,363,979 (GRCm39) T254S probably benign Het
Mat2b A T 11: 40,573,373 (GRCm39) M202K probably damaging Het
Mos A G 4: 3,870,971 (GRCm39) Y282H probably benign Het
Myo3b A G 2: 69,936,083 (GRCm39) K108R probably damaging Het
Naa16 A G 14: 79,593,220 (GRCm39) Y417H probably damaging Het
Oat A T 7: 132,159,984 (GRCm39) I412N probably damaging Het
Or4d11 A T 19: 12,013,272 (GRCm39) I278N probably damaging Het
Pcdh1 A T 18: 38,335,999 (GRCm39) V73D probably damaging Het
Pigv A T 4: 133,392,134 (GRCm39) Y345* probably null Het
Pitpnc1 G T 11: 107,228,264 (GRCm39) F34L probably benign Het
Plxnd1 A G 6: 115,942,838 (GRCm39) L1282P probably damaging Het
Ppp1r3a T C 6: 14,719,762 (GRCm39) D384G probably benign Het
Ppp2ca G A 11: 52,008,856 (GRCm39) E119K probably damaging Het
Psg29 A T 7: 16,944,459 (GRCm39) N323I probably damaging Het
Rasa4 T C 5: 136,122,016 (GRCm39) V108A probably benign Het
Rbm14 A G 19: 4,852,577 (GRCm39) probably benign Het
Rfc1 A T 5: 65,434,795 (GRCm39) V657E probably damaging Het
Rhcg A T 7: 79,250,371 (GRCm39) N237K probably damaging Het
Rpgrip1 A G 14: 52,397,617 (GRCm39) Q1302R probably benign Het
Rragc A G 4: 123,818,645 (GRCm39) M287V possibly damaging Het
Scn7a A G 2: 66,572,301 (GRCm39) probably null Het
Sema6a C T 18: 47,414,410 (GRCm39) C506Y probably damaging Het
Senp1 G T 15: 97,964,412 (GRCm39) H267Q possibly damaging Het
Skor2 A G 18: 76,946,578 (GRCm39) E100G unknown Het
Slc38a11 A T 2: 65,147,365 (GRCm39) C371S probably benign Het
Snai3 G A 8: 123,181,629 (GRCm39) A276V probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Spag6 C T 2: 18,720,525 (GRCm39) T99I probably benign Het
Spop A G 11: 95,376,675 (GRCm39) I243V possibly damaging Het
Sra1 A T 18: 36,800,496 (GRCm39) probably benign Het
Stag3 T A 5: 138,288,485 (GRCm39) S140T possibly damaging Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Tead2 A G 7: 44,870,166 (GRCm39) probably benign Het
Tmem53 C A 4: 117,125,669 (GRCm39) H261N probably damaging Het
Ube4a A T 9: 44,844,627 (GRCm39) S932T probably damaging Het
Usp9y A T Y: 1,381,339 (GRCm39) D827E probably damaging Het
Vmn2r53 T C 7: 12,334,733 (GRCm39) E309G probably damaging Het
Wrn T C 8: 33,758,806 (GRCm39) S1026G probably benign Het
Zfp646 G A 7: 127,484,626 (GRCm39) A1760T probably damaging Het
Other mutations in Tbc1d2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Tbc1d2b APN 9 90,108,262 (GRCm39) missense probably benign
IGL00791:Tbc1d2b APN 9 90,109,481 (GRCm39) missense probably benign 0.18
IGL01457:Tbc1d2b APN 9 90,087,144 (GRCm39) missense probably damaging 1.00
IGL01535:Tbc1d2b APN 9 90,097,526 (GRCm39) splice site probably benign
IGL02089:Tbc1d2b APN 9 90,104,412 (GRCm39) missense possibly damaging 0.80
IGL02409:Tbc1d2b APN 9 90,104,405 (GRCm39) missense probably benign 0.00
IGL02799:Tbc1d2b APN 9 90,105,487 (GRCm39) splice site probably benign
IGL03198:Tbc1d2b APN 9 90,104,510 (GRCm39) missense probably damaging 1.00
Leone UTSW 9 90,089,940 (GRCm39) missense probably damaging 1.00
ocelot UTSW 9 90,089,937 (GRCm39) missense probably damaging 1.00
panthera UTSW 9 90,108,301 (GRCm39) missense probably benign
pardo UTSW 9 90,101,197 (GRCm39) missense probably benign 0.13
pardus UTSW 9 90,101,063 (GRCm39) nonsense probably null
roar UTSW 9 90,100,975 (GRCm39) nonsense probably null
R0062:Tbc1d2b UTSW 9 90,104,355 (GRCm39) splice site probably benign
R0062:Tbc1d2b UTSW 9 90,104,355 (GRCm39) splice site probably benign
R0671:Tbc1d2b UTSW 9 90,104,558 (GRCm39) splice site probably benign
R0682:Tbc1d2b UTSW 9 90,131,915 (GRCm39) missense probably benign 0.01
R1074:Tbc1d2b UTSW 9 90,104,393 (GRCm39) missense possibly damaging 0.68
R1075:Tbc1d2b UTSW 9 90,104,393 (GRCm39) missense possibly damaging 0.68
R1140:Tbc1d2b UTSW 9 90,108,429 (GRCm39) missense possibly damaging 0.91
R1892:Tbc1d2b UTSW 9 90,100,996 (GRCm39) missense probably damaging 0.98
R4064:Tbc1d2b UTSW 9 90,100,975 (GRCm39) nonsense probably null
R4541:Tbc1d2b UTSW 9 90,087,222 (GRCm39) missense probably damaging 1.00
R4590:Tbc1d2b UTSW 9 90,152,553 (GRCm39) missense possibly damaging 0.81
R4651:Tbc1d2b UTSW 9 90,089,940 (GRCm39) missense probably damaging 1.00
R4652:Tbc1d2b UTSW 9 90,089,940 (GRCm39) missense probably damaging 1.00
R4971:Tbc1d2b UTSW 9 90,100,923 (GRCm39) missense probably benign 0.00
R5086:Tbc1d2b UTSW 9 90,109,510 (GRCm39) missense probably benign
R5131:Tbc1d2b UTSW 9 90,091,812 (GRCm39) missense probably damaging 1.00
R5205:Tbc1d2b UTSW 9 90,089,863 (GRCm39) missense probably damaging 1.00
R5502:Tbc1d2b UTSW 9 90,109,496 (GRCm39) missense probably benign
R5509:Tbc1d2b UTSW 9 90,101,022 (GRCm39) missense probably damaging 1.00
R5534:Tbc1d2b UTSW 9 90,109,559 (GRCm39) missense possibly damaging 0.89
R5735:Tbc1d2b UTSW 9 90,104,462 (GRCm39) missense possibly damaging 0.71
R5847:Tbc1d2b UTSW 9 90,091,777 (GRCm39) missense probably damaging 1.00
R5928:Tbc1d2b UTSW 9 90,101,197 (GRCm39) missense probably benign 0.13
R6595:Tbc1d2b UTSW 9 90,108,145 (GRCm39) missense probably benign 0.02
R6766:Tbc1d2b UTSW 9 90,108,262 (GRCm39) missense probably benign
R7563:Tbc1d2b UTSW 9 90,108,301 (GRCm39) missense probably benign
R7563:Tbc1d2b UTSW 9 90,101,063 (GRCm39) nonsense probably null
R8126:Tbc1d2b UTSW 9 90,104,369 (GRCm39) missense probably benign 0.00
R8162:Tbc1d2b UTSW 9 90,089,937 (GRCm39) missense probably damaging 1.00
R8928:Tbc1d2b UTSW 9 90,108,190 (GRCm39) missense probably damaging 1.00
R9182:Tbc1d2b UTSW 9 90,152,652 (GRCm39) missense probably damaging 0.99
R9210:Tbc1d2b UTSW 9 90,087,183 (GRCm39) missense possibly damaging 0.74
R9212:Tbc1d2b UTSW 9 90,087,183 (GRCm39) missense possibly damaging 0.74
R9381:Tbc1d2b UTSW 9 90,101,139 (GRCm39) missense possibly damaging 0.63
R9494:Tbc1d2b UTSW 9 90,152,563 (GRCm39) missense probably damaging 1.00
X0066:Tbc1d2b UTSW 9 90,100,711 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGTAACACATGGCCCTTCCC -3'
(R):5'- AAGTCAGTCAGTCACCTTACCTCC -3'

Sequencing Primer
(F):5'- GTAACACATGGCCCTTCCCATTTC -3'
(R):5'- TTACCTCCTAGGAACACGGCTG -3'
Posted On 2017-01-03