Incidental Mutation 'IGL03371:Osr2'
ID420304
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Osr2
Ensembl Gene ENSMUSG00000022330
Gene Nameodd-skipped related 2
Synonyms5430409I15Rik, Osr2B, Osr2A
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03371
Quality Score
Status
Chromosome15
Chromosomal Location35296098-35303305 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 35300854 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 185 (Y185*)
Ref Sequence ENSEMBL: ENSMUSP00000154286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022952] [ENSMUST00000228152]
Predicted Effect probably null
Transcript: ENSMUST00000022952
AA Change: Y185*
SMART Domains Protein: ENSMUSP00000022952
Gene: ENSMUSG00000022330
AA Change: Y185*

DomainStartEndE-ValueType
low complexity region 136 153 N/A INTRINSIC
ZnF_C2H2 172 194 2.05e-2 SMART
ZnF_C2H2 200 222 2.4e-3 SMART
ZnF_C2H2 228 250 4.4e-2 SMART
low complexity region 253 263 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226838
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227655
Predicted Effect probably null
Transcript: ENSMUST00000228152
AA Change: Y185*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228684
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] OSR2 is a mammalian homolog of the Drosophila odd-skipped family of transcription factors (Lan et al., 2004 [PubMed 15175245]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice display neonatal lethality, cleft of the secondary palate, and thickened tympanic rings. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agk C T 6: 40,394,642 R358C probably benign Het
Ahnak G T 19: 9,004,228 V959F possibly damaging Het
Aoc1 C T 6: 48,906,446 R419C probably benign Het
Brf2 T C 8: 27,125,844 D171G probably benign Het
Cnot1 T C 8: 95,774,716 I75V possibly damaging Het
D430041D05Rik A G 2: 104,248,374 V1199A probably damaging Het
Dpp9 G A 17: 56,187,377 H861Y probably benign Het
Eddm3b G A 14: 51,116,965 D137N probably damaging Het
Erich3 A T 3: 154,727,477 I363F probably damaging Het
F13b T A 1: 139,506,936 C147S probably damaging Het
Fam186b T C 15: 99,280,377 E356G probably benign Het
Fat2 T A 11: 55,311,164 R361S probably benign Het
Fat4 A T 3: 38,983,187 I3663F possibly damaging Het
Haus3 C A 5: 34,166,343 E308* probably null Het
Ifna11 A G 4: 88,820,175 K73E probably benign Het
Itga10 A G 3: 96,654,788 K664E possibly damaging Het
L3mbtl4 G A 17: 68,461,568 V224M probably damaging Het
Mcf2l C A 8: 13,001,298 A378D probably damaging Het
Mixl1 T C 1: 180,694,626 N230S probably benign Het
Ncbp1 T A 4: 46,171,991 C786* probably null Het
Nup153 C T 13: 46,683,152 S1327N probably benign Het
Olfr1049 A T 2: 86,255,591 I34N possibly damaging Het
Olfr1255 A T 2: 89,817,165 T280S possibly damaging Het
Ppp1r3b T C 8: 35,384,249 F81L possibly damaging Het
Ppp3r2 T A 4: 49,681,630 I107F probably damaging Het
Rin2 G A 2: 145,885,926 probably benign Het
Rpap1 A T 2: 119,775,057 probably benign Het
Slc12a4 A G 8: 105,950,505 Y466H probably null Het
Slc25a40 C T 5: 8,427,442 P9L probably benign Het
Slc27a1 T C 8: 71,585,408 S567P probably benign Het
Sox8 G A 17: 25,567,440 R430C probably damaging Het
Tacc2 T C 7: 130,626,061 V1492A possibly damaging Het
Taf5l A G 8: 123,997,986 S365P possibly damaging Het
Tet2 T A 3: 133,467,551 H1650L possibly damaging Het
Tmem117 G A 15: 95,011,393 R229H probably damaging Het
Ttc17 A G 2: 94,386,105 L79P probably damaging Het
Usp54 A T 14: 20,589,368 probably benign Het
Zfp455 T A 13: 67,207,002 C111* probably null Het
Zmym4 A C 4: 126,915,088 C389G possibly damaging Het
Other mutations in Osr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02008:Osr2 APN 15 35301992 missense probably damaging 1.00
IGL02627:Osr2 APN 15 35300454 missense possibly damaging 0.91
R1517:Osr2 UTSW 15 35300667 missense probably benign
R1893:Osr2 UTSW 15 35300462 missense possibly damaging 0.91
R4408:Osr2 UTSW 15 35300471 missense possibly damaging 0.88
R7275:Osr2 UTSW 15 35300886 missense probably damaging 1.00
R8157:Osr2 UTSW 15 35301917 missense probably benign 0.03
Posted On2016-08-02