Incidental Mutation 'R2394:Obox2'
ID247908
Institutional Source Beutler Lab
Gene Symbol Obox2
Ensembl Gene ENSMUSG00000074369
Gene Nameoocyte specific homeobox 2
Synonyms
MMRRC Submission 040362-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.780) question?
Stock #R2394 (G1)
Quality Score174
Status Validated
Chromosome7
Chromosomal Location15388721-15398545 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 15397010 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 56 (P56S)
Ref Sequence ENSEMBL: ENSMUSP00000134275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036575] [ENSMUST00000172478] [ENSMUST00000174076] [ENSMUST00000174305] [ENSMUST00000181001]
Predicted Effect possibly damaging
Transcript: ENSMUST00000036575
AA Change: P56S

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000042995
Gene: ENSMUSG00000074369
AA Change: P56S

DomainStartEndE-ValueType
Blast:HOX 94 124 3e-9 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000172478
AA Change: P56S

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133450
Gene: ENSMUSG00000074369
AA Change: P56S

DomainStartEndE-ValueType
Blast:HOX 94 124 3e-9 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000174076
AA Change: P56S

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133793
Gene: ENSMUSG00000074369
AA Change: P56S

DomainStartEndE-ValueType
Blast:HOX 94 124 3e-9 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000174305
AA Change: P56S

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134275
Gene: ENSMUSG00000074369
AA Change: P56S

DomainStartEndE-ValueType
Blast:HOX 94 124 3e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000181001
SMART Domains Protein: ENSMUSP00000138010
Gene: ENSMUSG00000054310

DomainStartEndE-ValueType
HOX 94 156 2.18e-18 SMART
Meta Mutation Damage Score 0.0612 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,281,216 probably null Het
Atxn7 T C 14: 14,100,237 V641A probably damaging Het
C3 G A 17: 57,222,303 Q30* probably null Het
Ccdc162 A G 10: 41,569,898 I426T probably damaging Het
Col9a2 C G 4: 121,054,258 R599G probably damaging Het
Cwc27 A C 13: 104,796,434 D253E probably benign Het
Cyp1a1 T A 9: 57,700,149 V20D probably benign Het
Dmbt1 T A 7: 131,094,734 Y892* probably null Het
Dnhd1 T A 7: 105,720,231 Y4354N probably benign Het
Dync2li1 T A 17: 84,644,747 I202K possibly damaging Het
Dyrk1a T A 16: 94,685,132 V446E probably benign Het
Fam186b T C 15: 99,280,177 I423V probably benign Het
Gm11639 C A 11: 104,738,295 T933K probably benign Het
Gm5108 T C 5: 67,975,132 probably benign Het
Htr3a A G 9: 48,906,343 V110A probably benign Het
Itsn2 C A 12: 4,707,005 S1365Y possibly damaging Het
Lrrc46 T C 11: 97,038,831 I60V probably damaging Het
Nlrp14 T C 7: 107,197,824 V307A probably benign Het
Nt5c2 A G 19: 46,890,067 probably null Het
Olfml2b A G 1: 170,649,750 I151M possibly damaging Het
Oog3 T A 4: 144,159,314 D238V probably benign Het
Pde11a T C 2: 76,059,061 T690A probably benign Het
Ppa1 A G 10: 61,672,384 probably benign Het
Ppfia2 A G 10: 106,819,490 E306G probably damaging Het
Ppic G A 18: 53,411,047 R89C probably damaging Het
Ptprk T G 10: 28,551,717 I764S probably damaging Het
Ripk2 T C 4: 16,132,774 probably benign Het
Rnf123 A G 9: 108,063,536 M702T probably benign Het
Skiv2l2 A T 13: 112,883,168 Y803N probably benign Het
Slco1b2 T C 6: 141,669,374 I335T probably damaging Het
Ssbp1 T A 6: 40,476,809 D96E probably benign Het
Thap8 A T 7: 30,280,628 probably benign Het
Tpp2 T A 1: 43,983,186 S915T possibly damaging Het
Unc5c A T 3: 141,678,131 Q90L probably damaging Het
Vmn2r57 A G 7: 41,400,195 I710T possibly damaging Het
Wdr90 G A 17: 25,851,455 P1104L probably damaging Het
Other mutations in Obox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02798:Obox2 APN 7 15396882 missense possibly damaging 0.85
R1444:Obox2 UTSW 7 15397032 missense possibly damaging 0.95
R1620:Obox2 UTSW 7 15397041 missense probably benign 0.36
R1993:Obox2 UTSW 7 15397249 missense probably benign 0.00
R2397:Obox2 UTSW 7 15397046 missense probably benign 0.02
R3702:Obox2 UTSW 7 15396957 missense probably benign 0.03
R4926:Obox2 UTSW 7 15397177 splice site probably null
R6878:Obox2 UTSW 7 15397320 missense probably benign 0.02
R7373:Obox2 UTSW 7 15397220 nonsense probably null
R7483:Obox2 UTSW 7 15397316 missense probably damaging 0.97
Z1088:Obox2 UTSW 7 15397338 missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ACACAAATGGCGGAAGGTCC -3'
(R):5'- CGAAACTTTCTTGAAGCCATTGGG -3'

Sequencing Primer
(F):5'- GGTCCCTCCTTGCATCCAAAAC -3'
(R):5'- TCTGACAGTGGCATACAACCTATGG -3'
Posted On2014-11-11