Incidental Mutation 'R2349:Dbx2'
ID247407
Institutional Source Beutler Lab
Gene Symbol Dbx2
Ensembl Gene ENSMUSG00000045608
Gene Namedeveloping brain homeobox 2
SynonymsLOC383001, 9430056A22Rik
MMRRC Submission 040331-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #R2349 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location95623563-95655960 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 95624959 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 289 (V289A)
Ref Sequence ENSEMBL: ENSMUSP00000060424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054244]
Predicted Effect probably benign
Transcript: ENSMUST00000054244
AA Change: V289A

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000060424
Gene: ENSMUSG00000045608
AA Change: V289A

DomainStartEndE-ValueType
low complexity region 43 56 N/A INTRINSIC
low complexity region 108 125 N/A INTRINSIC
HOX 226 288 3.11e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229611
Meta Mutation Damage Score 0.064 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 43,652,378 K77E probably damaging Het
Arfgef2 T A 2: 166,852,028 I507N probably damaging Het
Atg16l2 T C 7: 101,296,539 K231E probably damaging Het
C1s1 C A 6: 124,541,473 probably benign Het
Cdh15 G A 8: 122,856,635 R59H probably benign Het
Cntrl A G 2: 35,176,251 T1739A probably benign Het
Col15a1 G A 4: 47,306,742 M289I probably damaging Het
Crebbp G A 16: 4,138,910 R350C probably damaging Het
Esam A C 9: 37,528,231 Q4P probably benign Het
Galnt1 A G 18: 24,280,028 M462V probably benign Het
Got1l1 T C 8: 27,197,931 T357A probably benign Het
Gpr182 T A 10: 127,750,937 K48N probably damaging Het
Hdlbp A G 1: 93,422,234 probably benign Het
Ifi209 G A 1: 173,642,556 V237M probably damaging Het
Igf2r A T 17: 12,722,311 probably null Het
Jmjd1c T C 10: 67,255,500 M2520T probably benign Het
Krt222 A G 11: 99,238,765 probably benign Het
Nkx2-9 A G 12: 56,612,222 L69P probably benign Het
Papss1 A G 3: 131,599,866 D203G probably benign Het
Pex13 A G 11: 23,655,789 M147T probably damaging Het
Pkd1l1 A T 11: 8,826,819 probably null Het
Rac2 A G 15: 78,565,475 V85A possibly damaging Het
Rock2 A G 12: 16,977,615 N127S probably benign Het
Sfswap C T 5: 129,569,738 R875C possibly damaging Het
Slco5a1 C T 1: 12,921,152 V438M probably damaging Het
Thsd4 A G 9: 59,972,515 Y620H probably benign Het
Trip4 T C 9: 65,866,562 D246G probably benign Het
Usp10 T C 8: 119,956,709 *88R probably null Het
Vars A G 17: 35,015,752 I1186V probably benign Het
Vps13c A G 9: 67,957,526 D3039G possibly damaging Het
Wwp1 A T 4: 19,638,644 N566K possibly damaging Het
Xpo6 A T 7: 126,113,703 V701E probably benign Het
Other mutations in Dbx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02245:Dbx2 APN 15 95624747 missense probably damaging 1.00
IGL02747:Dbx2 APN 15 95632439 missense probably benign 0.06
R0610:Dbx2 UTSW 15 95624897 missense probably benign 0.01
R0646:Dbx2 UTSW 15 95654612 missense possibly damaging 0.53
R1411:Dbx2 UTSW 15 95632381 missense probably damaging 0.98
R1770:Dbx2 UTSW 15 95624734 missense probably benign 0.11
R1978:Dbx2 UTSW 15 95632353 missense probably damaging 0.99
R2118:Dbx2 UTSW 15 95624800 missense probably damaging 1.00
R3899:Dbx2 UTSW 15 95632432 missense possibly damaging 0.81
R5368:Dbx2 UTSW 15 95640641 missense probably benign 0.09
R5734:Dbx2 UTSW 15 95654723 missense possibly damaging 0.53
R6726:Dbx2 UTSW 15 95624860 missense possibly damaging 0.64
R6843:Dbx2 UTSW 15 95654459 missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- CTGGGTCAGTCTTTCTGCAG -3'
(R):5'- TTCCAGAGTAGGAGATTCTGCAG -3'

Sequencing Primer
(F):5'- CTGCAGATTCTGGAGTCTCC -3'
(R):5'- TCTGCAGTAAGTATAGTCGAAGC -3'
Posted On2014-11-11