Incidental Mutation 'R2397:Obox2'
ID 318117
Institutional Source Beutler Lab
Gene Symbol Obox2
Ensembl Gene ENSMUSG00000074369
Gene Name oocyte specific homeobox 2
Synonyms
MMRRC Submission 040364-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.781) question?
Stock # R2397 (G1)
Quality Score 53
Status Validated
Chromosome 7
Chromosomal Location 15122776-15132470 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 15130971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 68 (P68S)
Ref Sequence ENSEMBL: ENSMUSP00000134275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036575] [ENSMUST00000172478] [ENSMUST00000174076] [ENSMUST00000174305] [ENSMUST00000181001]
AlphaFold E9PXV9
Predicted Effect probably benign
Transcript: ENSMUST00000036575
AA Change: P68S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000042995
Gene: ENSMUSG00000074369
AA Change: P68S

DomainStartEndE-ValueType
Blast:HOX 94 124 3e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000172478
AA Change: P68S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000133450
Gene: ENSMUSG00000074369
AA Change: P68S

DomainStartEndE-ValueType
Blast:HOX 94 124 3e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000174076
AA Change: P68S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000133793
Gene: ENSMUSG00000074369
AA Change: P68S

DomainStartEndE-ValueType
Blast:HOX 94 124 3e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000174305
AA Change: P68S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000134275
Gene: ENSMUSG00000074369
AA Change: P68S

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T A 8: 56,325,933 (GRCm39) M174L probably benign Het
Adamtsl1 C T 4: 86,117,594 (GRCm39) R186W probably damaging Het
Agtpbp1 C T 13: 59,622,383 (GRCm39) V948I probably benign Het
Atp13a2 A G 4: 140,730,466 (GRCm39) T787A probably benign Het
Capn11 T A 17: 45,964,147 (GRCm39) N139I probably damaging Het
Cars1 T C 7: 143,146,244 (GRCm39) D60G possibly damaging Het
Cers1 A T 8: 70,774,186 (GRCm39) I148F probably benign Het
Col14a1 T C 15: 55,201,835 (GRCm39) I41T unknown Het
Cyp2d26 C T 15: 82,678,236 (GRCm39) G47R probably damaging Het
Dhx36 A T 3: 62,405,518 (GRCm39) M205K probably benign Het
Dyrk2 T A 10: 118,697,273 (GRCm39) probably benign Het
Echs1 T C 7: 139,692,390 (GRCm39) H119R possibly damaging Het
Ehf T A 2: 103,107,164 (GRCm39) D120V probably damaging Het
Esrra A G 19: 6,897,544 (GRCm39) L71P probably damaging Het
Fam228a A T 12: 4,768,718 (GRCm39) S200R probably benign Het
Fibcd1 A T 2: 31,724,435 (GRCm39) M191K probably benign Het
Foxn4 A G 5: 114,393,556 (GRCm39) L521P probably damaging Het
Fscn2 T C 11: 120,252,995 (GRCm39) L154P probably damaging Het
Gm7964 T G 7: 83,406,321 (GRCm39) noncoding transcript Het
Golga3 T C 5: 110,353,743 (GRCm39) probably benign Het
Gria4 A G 9: 4,537,717 (GRCm39) L197P probably damaging Het
Heg1 T A 16: 33,562,849 (GRCm39) M913K probably damaging Het
Ifi205 T C 1: 173,845,141 (GRCm39) T214A possibly damaging Het
Ift140 T G 17: 25,239,710 (GRCm39) D122E probably damaging Het
Jakmip1 T A 5: 37,258,087 (GRCm39) D244E probably damaging Het
Krt84 A G 15: 101,438,689 (GRCm39) V266A probably benign Het
Mc2r T A 18: 68,541,224 (GRCm39) D23V probably benign Het
Ncr1 T A 7: 4,341,260 (GRCm39) F47I probably benign Het
Nr1h3 G A 2: 91,022,202 (GRCm39) T142I possibly damaging Het
Pacs2 G A 12: 113,026,987 (GRCm39) D605N probably damaging Het
Parn A G 16: 13,384,518 (GRCm39) V515A probably benign Het
Ptdss2 T A 7: 140,727,005 (GRCm39) F105I probably benign Het
Ruvbl1 A C 6: 88,442,534 (GRCm39) T9P possibly damaging Het
Slc15a3 A G 19: 10,820,407 (GRCm39) E8G probably benign Het
Slf1 G T 13: 77,251,702 (GRCm39) Y303* probably null Het
Socs5 T C 17: 87,442,377 (GRCm39) F439S probably damaging Het
Tcp10c C A 17: 13,590,473 (GRCm39) A357E probably damaging Het
Tmem200c T C 17: 69,147,942 (GRCm39) V175A probably damaging Het
Vmn2r124 T A 17: 18,269,859 (GRCm39) H38Q possibly damaging Het
Vmn2r54 T G 7: 12,349,578 (GRCm39) Q668P probably damaging Het
Xrcc2 T C 5: 25,910,708 (GRCm39) S3G probably null 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
R2394:Obox2 UTSW 7 15,130,935 (GRCm39) missense possibly damaging 0.93
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'- GGTCCCTCCTTGCATCCAAAAC -3'
(R):5'- CGAAACTTTCTTGAAGCCATTGG -3'

Sequencing Primer
(F):5'- TTGCATCCAAAACTCCAAGTGGATTC -3'
(R):5'- CCATTGGGCTAGTTTGTTTGTTAAC -3'
Posted On 2015-06-10