Incidental Mutation 'R2394:Obox2'
ID 247908
Institutional Source Beutler Lab
Gene Symbol Obox2
Ensembl Gene ENSMUSG00000074369
Gene Name oocyte specific homeobox 2
Synonyms
MMRRC Submission 040362-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.781) question?
Stock # R2394 (G1)
Quality Score 174
Status Validated
Chromosome 7
Chromosomal Location 15122776-15132470 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 15130935 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold E9PXV9
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 0.1795 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
1700020L13Rik A T 7: 29,980,053 (GRCm39) probably benign Het
Abca17 T C 17: 24,500,190 (GRCm39) probably null Het
Atxn7 T C 14: 14,100,237 (GRCm38) V641A probably damaging Het
C3 G A 17: 57,529,303 (GRCm39) Q30* probably null Het
Ccdc162 A G 10: 41,445,894 (GRCm39) I426T probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Cwc27 A C 13: 104,932,942 (GRCm39) D253E probably benign Het
Cyp1a1 T A 9: 57,607,432 (GRCm39) V20D probably benign Het
Dmbt1 T A 7: 130,696,464 (GRCm39) Y892* probably null Het
Dnhd1 T A 7: 105,369,438 (GRCm39) Y4354N probably benign Het
Dync2li1 T A 17: 84,952,175 (GRCm39) I202K possibly damaging Het
Dyrk1a T A 16: 94,485,991 (GRCm39) V446E probably benign Het
Efcab3 C A 11: 104,629,121 (GRCm39) T933K probably benign Het
Fam186b T C 15: 99,178,058 (GRCm39) I423V probably benign Het
Gm5108 T C 5: 68,132,475 (GRCm39) probably benign Het
Htr3a A G 9: 48,817,643 (GRCm39) V110A probably benign Het
Itsn2 C A 12: 4,757,005 (GRCm39) S1365Y possibly damaging Het
Lrrc46 T C 11: 96,929,657 (GRCm39) I60V probably damaging Het
Mtrex A T 13: 113,019,702 (GRCm39) Y803N probably benign Het
Nlrp14 T C 7: 106,797,031 (GRCm39) V307A probably benign Het
Nt5c2 A G 19: 46,878,506 (GRCm39) probably null Het
Olfml2b A G 1: 170,477,319 (GRCm39) I151M possibly damaging Het
Oog3 T A 4: 143,885,884 (GRCm39) D238V probably benign Het
Pde11a T C 2: 75,889,405 (GRCm39) T690A probably benign Het
Ppa1 A G 10: 61,508,163 (GRCm39) probably benign Het
Ppfia2 A G 10: 106,655,351 (GRCm39) E306G probably damaging Het
Ppic G A 18: 53,544,119 (GRCm39) R89C probably damaging Het
Ptprk T G 10: 28,427,713 (GRCm39) I764S probably damaging Het
Ripk2 T C 4: 16,132,774 (GRCm39) probably benign Het
Rnf123 A G 9: 107,940,735 (GRCm39) M702T probably benign Het
Slco1b2 T C 6: 141,615,100 (GRCm39) I335T probably damaging Het
Ssbp1 T A 6: 40,453,743 (GRCm39) D96E probably benign Het
Tpp2 T A 1: 44,022,346 (GRCm39) S915T possibly damaging Het
Unc5c A T 3: 141,383,892 (GRCm39) Q90L probably damaging Het
Vmn2r57 A G 7: 41,049,619 (GRCm39) I710T possibly damaging Het
Wdr90 G A 17: 26,070,429 (GRCm39) P1104L probably damaging Het
Other mutations in Obox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02798:Obox2 APN 7 15,130,807 (GRCm39) missense possibly damaging 0.85
R1444:Obox2 UTSW 7 15,130,957 (GRCm39) missense possibly damaging 0.95
R1620:Obox2 UTSW 7 15,130,966 (GRCm39) missense probably benign 0.36
R1993:Obox2 UTSW 7 15,131,174 (GRCm39) missense probably benign 0.00
R2397:Obox2 UTSW 7 15,130,971 (GRCm39) missense probably benign 0.02
R3702:Obox2 UTSW 7 15,130,882 (GRCm39) missense probably benign 0.03
R4926:Obox2 UTSW 7 15,131,102 (GRCm39) splice site probably null
R6878:Obox2 UTSW 7 15,131,245 (GRCm39) missense probably benign 0.02
R7373:Obox2 UTSW 7 15,131,145 (GRCm39) nonsense probably null
R7483:Obox2 UTSW 7 15,131,241 (GRCm39) missense probably damaging 0.97
R8017:Obox2 UTSW 7 15,130,974 (GRCm39) missense possibly damaging 0.77
R8023:Obox2 UTSW 7 15,131,145 (GRCm39) missense possibly damaging 0.94
R8295:Obox2 UTSW 7 15,131,247 (GRCm39) missense probably benign 0.00
R8682:Obox2 UTSW 7 15,130,912 (GRCm39) missense possibly damaging 0.93
R9273:Obox2 UTSW 7 15,131,290 (GRCm39) missense unknown
R9340:Obox2 UTSW 7 15,130,789 (GRCm39) missense probably damaging 0.99
R9471:Obox2 UTSW 7 15,131,113 (GRCm39) missense probably damaging 1.00
R9567:Obox2 UTSW 7 15,130,771 (GRCm39) start codon destroyed probably null 0.66
Z1088:Obox2 UTSW 7 15,131,263 (GRCm39) missense possibly damaging 0.94
Z1176:Obox2 UTSW 7 15,131,121 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- ACACAAATGGCGGAAGGTCC -3'
(R):5'- CGAAACTTTCTTGAAGCCATTGGG -3'

Sequencing Primer
(F):5'- GGTCCCTCCTTGCATCCAAAAC -3'
(R):5'- TCTGACAGTGGCATACAACCTATGG -3'
Posted On 2014-11-11