Incidental Mutation 'R6369:Tbc1d2'
ID 512836
Institutional Source Beutler Lab
Gene Symbol Tbc1d2
Ensembl Gene ENSMUSG00000039813
Gene Name TBC1 domain family, member 2
Synonyms PARIS-1, A630005A06Rik, LOC381605, PARIS1
MMRRC Submission 044519-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R6369 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 46604390-46650209 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46614420 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 554 (Y554H)
Ref Sequence ENSEMBL: ENSMUSP00000081670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084621]
AlphaFold B1AVH7
Predicted Effect probably benign
Transcript: ENSMUST00000084621
AA Change: Y554H

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000081670
Gene: ENSMUSG00000039813
AA Change: Y554H

DomainStartEndE-ValueType
PH 44 143 1.94e-11 SMART
low complexity region 147 159 N/A INTRINSIC
low complexity region 165 180 N/A INTRINSIC
low complexity region 189 206 N/A INTRINSIC
coiled coil region 302 333 N/A INTRINSIC
coiled coil region 362 394 N/A INTRINSIC
low complexity region 398 410 N/A INTRINSIC
Blast:TBC 454 491 3e-14 BLAST
low complexity region 526 539 N/A INTRINSIC
Blast:TBC 557 591 3e-10 BLAST
TBC 616 834 1.63e-60 SMART
coiled coil region 869 906 N/A INTRINSIC
Meta Mutation Damage Score 0.1266 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn C T 17: 13,835,343 (GRCm38) R571* probably null Het
Asb18 A T 1: 90,014,471 (GRCm38) I36N probably damaging Het
Ascc3 G A 10: 50,699,985 (GRCm38) G779S probably damaging Het
Atl2 T C 17: 79,854,555 (GRCm38) Q205R probably damaging Het
Axdnd1 A G 1: 156,392,745 (GRCm38) I235T probably damaging Het
Bri3bp A G 5: 125,454,701 (GRCm38) N237S probably damaging Het
Ccdc191 A G 16: 43,915,485 (GRCm38) N256S probably benign Het
Cchcr1 T C 17: 35,528,176 (GRCm38) I474T probably damaging Het
Cd209c T C 8: 3,944,984 (GRCm38) Y60C probably damaging Het
Cd300c C A 11: 114,957,555 (GRCm38) D171Y probably damaging Het
Crb1 C T 1: 139,237,462 (GRCm38) V975M probably damaging Het
Csmd1 C T 8: 17,535,004 (GRCm38) probably benign Het
Ctnna2 A G 6: 76,980,695 (GRCm38) S524P possibly damaging Het
Eno1 T C 4: 150,239,568 (GRCm38) probably null Het
Ero1l T C 14: 45,299,958 (GRCm38) I170M probably damaging Het
Fam186a A G 15: 99,947,331 (GRCm38) M344T unknown Het
Frem1 A T 4: 82,913,792 (GRCm38) probably null Het
Gjb5 G T 4: 127,355,930 (GRCm38) D140E possibly damaging Het
Gm11595 G A 11: 99,772,555 (GRCm38) R100C unknown Het
Hk2 G T 6: 82,736,753 (GRCm38) S449R probably damaging Het
Hs3st3a1 A T 11: 64,520,601 (GRCm38) I322F probably benign Het
Itga1 T C 13: 114,965,660 (GRCm38) I1145V probably damaging Het
Kcp A G 6: 29,484,694 (GRCm38) L1295S probably damaging Het
Macf1 T C 4: 123,410,562 (GRCm38) D49G possibly damaging Het
Mef2b T A 8: 70,165,559 (GRCm38) D96E probably benign Het
Megf10 A T 18: 57,261,187 (GRCm38) D461V probably benign Het
Myom1 T C 17: 71,101,076 (GRCm38) S1104P probably damaging Het
Nab1 A G 1: 52,490,222 (GRCm38) L172P probably damaging Het
Olfr123 T G 17: 37,795,496 (GRCm38) D17E probably benign Het
Pate1 A G 9: 35,687,028 (GRCm38) V18A probably benign Het
Pink1 T C 4: 138,320,734 (GRCm38) probably null Het
Pnpla1 T A 17: 28,878,481 (GRCm38) I207N probably damaging Het
Ppp1r12b T C 1: 134,886,542 (GRCm38) E341G possibly damaging Het
Ppp1r21 C A 17: 88,582,412 (GRCm38) probably null Het
Rad52 A G 6: 119,914,207 (GRCm38) E76G unknown Het
Rad54l A G 4: 116,111,189 (GRCm38) probably null Het
Rasgrf2 T C 13: 92,131,446 (GRCm38) M17V probably benign Het
Rbm42 A G 7: 30,641,313 (GRCm38) M411T unknown Het
Reln A G 5: 22,051,361 (GRCm38) I495T probably benign Het
Rnf224 A G 2: 25,235,942 (GRCm38) F133S probably damaging Het
Rrm1 C A 7: 102,446,702 (GRCm38) H87Q probably damaging Het
Sec14l2 T C 11: 4,103,962 (GRCm38) D235G possibly damaging Het
Serpinb3d G T 1: 107,080,753 (GRCm38) N127K probably benign Het
Skint7 A T 4: 111,980,293 (GRCm38) E89D probably benign Het
Slc22a5 T G 11: 53,891,370 (GRCm38) N57T probably damaging Het
Smarcd3 A T 5: 24,594,984 (GRCm38) F263I probably damaging Het
Sncaip A G 18: 52,868,604 (GRCm38) I66V probably damaging Het
Syngr1 A C 15: 80,115,590 (GRCm38) probably benign Het
Tmem198 T C 1: 75,479,743 (GRCm38) V44A probably benign Het
Trappc11 T C 8: 47,512,285 (GRCm38) probably null Het
Uox C T 3: 146,624,577 (GRCm38) R163* probably null Het
Vmn2r111 C T 17: 22,548,602 (GRCm38) C638Y probably damaging Het
Washc4 A G 10: 83,574,444 (GRCm38) Y632C probably damaging Het
Zfp212 T C 6: 47,930,897 (GRCm38) V270A probably benign Het
Zfp92 G A X: 73,421,968 (GRCm38) R189H possibly damaging Homo
Other mutations in Tbc1d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00714:Tbc1d2 APN 4 46,649,745 (GRCm38) missense probably benign 0.04
IGL01748:Tbc1d2 APN 4 46,616,306 (GRCm38) missense probably damaging 0.99
IGL01863:Tbc1d2 APN 4 46,607,064 (GRCm38) missense possibly damaging 0.66
IGL02014:Tbc1d2 APN 4 46,649,778 (GRCm38) missense possibly damaging 0.83
IGL02025:Tbc1d2 APN 4 46,620,713 (GRCm38) missense probably damaging 1.00
IGL02551:Tbc1d2 APN 4 46,649,916 (GRCm38) missense probably benign
IGL02571:Tbc1d2 APN 4 46,628,370 (GRCm38) missense probably benign 0.00
IGL03149:Tbc1d2 APN 4 46,637,619 (GRCm38) missense probably benign 0.31
R0347:Tbc1d2 UTSW 4 46,620,574 (GRCm38) missense possibly damaging 0.82
R0374:Tbc1d2 UTSW 4 46,649,913 (GRCm38) missense possibly damaging 0.95
R0522:Tbc1d2 UTSW 4 46,649,806 (GRCm38) missense probably damaging 1.00
R0883:Tbc1d2 UTSW 4 46,609,003 (GRCm38) nonsense probably null
R1227:Tbc1d2 UTSW 4 46,620,629 (GRCm38) missense probably benign 0.00
R1464:Tbc1d2 UTSW 4 46,606,491 (GRCm38) missense possibly damaging 0.51
R1464:Tbc1d2 UTSW 4 46,606,491 (GRCm38) missense possibly damaging 0.51
R1658:Tbc1d2 UTSW 4 46,614,207 (GRCm38) missense probably damaging 1.00
R1959:Tbc1d2 UTSW 4 46,606,419 (GRCm38) missense probably benign 0.44
R2108:Tbc1d2 UTSW 4 46,637,652 (GRCm38) missense possibly damaging 0.62
R3864:Tbc1d2 UTSW 4 46,620,484 (GRCm38) missense probably benign 0.01
R4475:Tbc1d2 UTSW 4 46,609,080 (GRCm38) missense possibly damaging 0.92
R5112:Tbc1d2 UTSW 4 46,606,503 (GRCm38) missense probably damaging 1.00
R5127:Tbc1d2 UTSW 4 46,633,639 (GRCm38) intron probably benign
R5215:Tbc1d2 UTSW 4 46,614,006 (GRCm38) missense probably benign 0.42
R5475:Tbc1d2 UTSW 4 46,629,912 (GRCm38) missense probably benign 0.01
R5550:Tbc1d2 UTSW 4 46,646,138 (GRCm38) missense probably benign 0.00
R5558:Tbc1d2 UTSW 4 46,629,912 (GRCm38) missense probably benign 0.01
R5564:Tbc1d2 UTSW 4 46,629,912 (GRCm38) missense probably benign 0.01
R5599:Tbc1d2 UTSW 4 46,629,912 (GRCm38) missense probably benign 0.01
R5600:Tbc1d2 UTSW 4 46,629,912 (GRCm38) missense probably benign 0.01
R5699:Tbc1d2 UTSW 4 46,616,298 (GRCm38) missense probably benign 0.31
R5866:Tbc1d2 UTSW 4 46,637,715 (GRCm38) missense possibly damaging 0.80
R5909:Tbc1d2 UTSW 4 46,629,912 (GRCm38) missense probably benign 0.01
R5911:Tbc1d2 UTSW 4 46,629,912 (GRCm38) missense probably benign 0.01
R5980:Tbc1d2 UTSW 4 46,629,912 (GRCm38) missense probably benign 0.01
R6194:Tbc1d2 UTSW 4 46,629,912 (GRCm38) missense probably benign 0.01
R6195:Tbc1d2 UTSW 4 46,629,912 (GRCm38) missense probably benign 0.01
R6209:Tbc1d2 UTSW 4 46,614,068 (GRCm38) missense probably damaging 1.00
R6211:Tbc1d2 UTSW 4 46,629,912 (GRCm38) missense probably benign 0.01
R6232:Tbc1d2 UTSW 4 46,629,912 (GRCm38) missense probably benign 0.01
R6242:Tbc1d2 UTSW 4 46,629,912 (GRCm38) missense probably benign 0.01
R6261:Tbc1d2 UTSW 4 46,637,692 (GRCm38) missense possibly damaging 0.47
R6273:Tbc1d2 UTSW 4 46,629,912 (GRCm38) missense probably benign 0.01
R6274:Tbc1d2 UTSW 4 46,629,912 (GRCm38) missense probably benign 0.01
R6285:Tbc1d2 UTSW 4 46,615,045 (GRCm38) missense possibly damaging 0.49
R6333:Tbc1d2 UTSW 4 46,620,736 (GRCm38) missense possibly damaging 0.64
R6912:Tbc1d2 UTSW 4 46,649,712 (GRCm38) missense probably damaging 1.00
R7428:Tbc1d2 UTSW 4 46,649,965 (GRCm38) missense probably benign 0.02
R7775:Tbc1d2 UTSW 4 46,637,746 (GRCm38) splice site probably null
R7824:Tbc1d2 UTSW 4 46,637,746 (GRCm38) splice site probably null
R8069:Tbc1d2 UTSW 4 46,649,737 (GRCm38) missense possibly damaging 0.81
R8135:Tbc1d2 UTSW 4 46,609,071 (GRCm38) missense probably benign 0.31
R8203:Tbc1d2 UTSW 4 46,606,476 (GRCm38) missense probably damaging 1.00
R8271:Tbc1d2 UTSW 4 46,649,791 (GRCm38) missense possibly damaging 0.88
R8690:Tbc1d2 UTSW 4 46,615,106 (GRCm38) missense possibly damaging 0.95
R9025:Tbc1d2 UTSW 4 46,607,062 (GRCm38) missense probably damaging 1.00
R9236:Tbc1d2 UTSW 4 46,609,029 (GRCm38) missense probably benign 0.08
R9622:Tbc1d2 UTSW 4 46,609,065 (GRCm38) missense probably damaging 1.00
R9776:Tbc1d2 UTSW 4 46,650,007 (GRCm38) missense probably benign 0.00
X0023:Tbc1d2 UTSW 4 46,615,037 (GRCm38) missense probably benign 0.00
X0063:Tbc1d2 UTSW 4 46,606,492 (GRCm38) missense probably damaging 1.00
Z1177:Tbc1d2 UTSW 4 46,650,016 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGAAGCTCTTGGTAGCAGCC -3'
(R):5'- GTGAATGCATCTCTCCTGGC -3'

Sequencing Primer
(F):5'- CTGCTTGAGCTCAGCTGAG -3'
(R):5'- CTCTTCTGTTTACCGAGGGGATC -3'
Posted On 2018-04-27