Incidental Mutation 'R1444:Obox2'
ID 158711
Institutional Source Beutler Lab
Gene Symbol Obox2
Ensembl Gene ENSMUSG00000074369
Gene Name oocyte specific homeobox 2
Synonyms
MMRRC Submission 039499-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.781) question?
Stock # R1444 (G1)
Quality Score 96
Status Validated
Chromosome 7
Chromosomal Location 15122776-15132470 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 15130957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 63 (Q63P)
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: Q63P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000042995
Gene: ENSMUSG00000074369
AA Change: Q63P

DomainStartEndE-ValueType
Blast:HOX 94 124 3e-9 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000172478
AA Change: Q63P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133450
Gene: ENSMUSG00000074369
AA Change: Q63P

DomainStartEndE-ValueType
Blast:HOX 94 124 3e-9 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000174076
AA Change: Q63P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133793
Gene: ENSMUSG00000074369
AA Change: Q63P

DomainStartEndE-ValueType
Blast:HOX 94 124 3e-9 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000174305
AA Change: Q63P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134275
Gene: ENSMUSG00000074369
AA Change: Q63P

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: 98.8%
  • 3x: 97.7%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A T 8: 73,205,230 (GRCm39) D347V probably damaging Het
A630010A05Rik T A 16: 14,427,558 (GRCm39) F82I possibly damaging Het
Acad9 T A 3: 36,132,657 (GRCm39) F297L possibly damaging Het
Adgrl3 A T 5: 81,660,200 (GRCm39) Y323F probably damaging Het
Brca2 T A 5: 150,465,915 (GRCm39) M1893K probably benign Het
Cactin A T 10: 81,158,270 (GRCm39) probably null Het
Cadm4 A G 7: 24,203,046 (GRCm39) *389W probably null Het
Calr4 A G 4: 109,103,438 (GRCm39) T183A possibly damaging Het
Card10 A T 15: 78,672,041 (GRCm39) probably benign Het
Cdh6 C A 15: 13,091,924 (GRCm39) G14C probably benign Het
Cds1 A G 5: 101,946,245 (GRCm39) Y148C probably damaging Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Cr1l A T 1: 194,813,510 (GRCm39) L35Q probably damaging Het
Daam2 T C 17: 49,787,779 (GRCm39) R445G possibly damaging Het
Ddn G A 15: 98,704,485 (GRCm39) T269M probably damaging Het
Epb41 G A 4: 131,733,382 (GRCm39) S176L probably benign Het
Ephx2 T C 14: 66,344,769 (GRCm39) D167G probably damaging Het
Erbb4 G A 1: 68,293,759 (GRCm39) R711C probably damaging Het
Flg2 T A 3: 93,109,620 (GRCm39) H549Q unknown Het
Gje1 A G 10: 14,592,380 (GRCm39) probably null Het
Heatr5b G A 17: 79,060,622 (GRCm39) H2018Y probably benign Het
Heatr5b A T 17: 79,062,856 (GRCm39) probably benign Het
Hectd3 G T 4: 116,853,593 (GRCm39) R189L probably benign Het
Hsd3b6 T C 3: 98,715,237 (GRCm39) T52A probably benign Het
Il10rb T G 16: 91,218,675 (GRCm39) probably null Het
Kcnc2 T C 10: 112,291,506 (GRCm39) probably benign Het
Lpl T A 8: 69,345,399 (GRCm39) D134E probably damaging Het
Lrit1 T C 14: 36,783,928 (GRCm39) F419L probably benign Het
Mmp8 T C 9: 7,567,264 (GRCm39) C422R probably benign Het
Myo18b A G 5: 112,923,117 (GRCm39) probably null Het
Ncor1 T A 11: 62,294,632 (GRCm39) I280F probably damaging Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Or4d2b T A 11: 87,780,585 (GRCm39) I46L probably benign Het
Phldb2 T A 16: 45,577,616 (GRCm39) probably benign Het
Pkd1l1 A G 11: 8,804,386 (GRCm39) F1735S probably damaging Het
Pramel11 G T 4: 143,623,461 (GRCm39) L238I probably benign Het
Prss30 T C 17: 24,192,712 (GRCm39) Y156C probably damaging Het
Rnf213 T C 11: 119,333,226 (GRCm39) S2812P probably damaging Het
Rttn A G 18: 89,060,991 (GRCm39) D1053G probably benign Het
Slc6a2 A G 8: 93,697,882 (GRCm39) N120S probably damaging Het
Snrnp200 T C 2: 127,070,158 (GRCm39) probably benign Het
Spindoc G T 19: 7,360,086 (GRCm39) D27E probably benign Het
Svep1 T C 4: 58,115,754 (GRCm39) T980A possibly damaging Het
Tgfbr1 A G 4: 47,393,259 (GRCm39) E46G probably benign Het
Tmem183a T C 1: 134,289,284 (GRCm39) I49V probably benign Het
Tmem212 C T 3: 27,939,244 (GRCm39) V81I possibly damaging Het
Toporsl T A 4: 52,610,254 (GRCm39) I49N probably benign Het
Trim67 A G 8: 125,549,932 (GRCm39) T521A probably benign Het
Vsnl1 T C 12: 11,382,219 (GRCm39) probably null Het
Wdr87-ps T C 7: 29,229,380 (GRCm39) noncoding transcript Het
Xrn2 C T 2: 146,903,408 (GRCm39) R803W probably damaging Het
Zfp131 A T 13: 120,251,784 (GRCm39) C9S probably damaging Het
Zfp750 C T 11: 121,402,873 (GRCm39) S625N probably damaging Het
Zfp871 G T 17: 32,993,900 (GRCm39) T406N possibly damaging Het
Other mutations in Obox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02798:Obox2 APN 7 15,130,807 (GRCm39) missense possibly damaging 0.85
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
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'- TGATTCCTGCTCCAAAAGGTCCAC -3'
(R):5'- TGTAACACCAACTGATAGTGCCAGC -3'

Sequencing Primer
(F):5'- TCAGGTTATCCAGTACAGGAAC -3'
(R):5'- AAATGTTTTTGCAGCAGGCCC -3'
Posted On 2014-03-14