Incidental Mutation 'R7713:Osr1'
ID 594746
Institutional Source Beutler Lab
Gene Symbol Osr1
Ensembl Gene ENSMUSG00000048387
Gene Name odd-skipped related transcription factor 1
Synonyms Odd1
MMRRC Submission 045771-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.774) question?
Stock # R7713 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 9624442-9631500 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 9629253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 42 (Y42F)
Ref Sequence ENSEMBL: ENSMUSP00000055486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057021] [ENSMUST00000217975]
AlphaFold Q9WVG7
Predicted Effect probably damaging
Transcript: ENSMUST00000057021
AA Change: Y42F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055486
Gene: ENSMUSG00000048387
AA Change: Y42F

DomainStartEndE-ValueType
low complexity region 134 151 N/A INTRINSIC
ZnF_C2H2 175 197 1.67e-2 SMART
ZnF_C2H2 203 225 2.4e-3 SMART
ZnF_C2H2 231 253 4.4e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000217975
AA Change: Y42F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted mutation fail to form atrial septum and exhibit dilated atria with hypoplastic venous valves and blood backflow from the heart into systemic veins. Complete agenesis of adrenal glands, metanephric kidneys, gonads, and defects in pericardium formation are also observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,066,173 (GRCm39) S119P possibly damaging Het
Agtpbp1 T A 13: 59,661,966 (GRCm39) I282F probably damaging Het
Armh1 A T 4: 117,071,425 (GRCm39) M355K possibly damaging Het
Cep128 A T 12: 90,986,096 (GRCm39) D1013E probably benign Het
Clock A T 5: 76,393,267 (GRCm39) probably null Het
Cspg4b T G 13: 113,483,075 (GRCm39) V1559G Het
D630003M21Rik G A 2: 158,058,698 (GRCm39) Q401* probably null Het
Dnah17 C A 11: 117,915,997 (GRCm39) V4302L probably benign Het
Drc3 A G 11: 60,261,386 (GRCm39) Y179C probably benign Het
Erbb3 T C 10: 128,410,318 (GRCm39) T647A probably benign Het
Esrp2 T C 8: 106,860,908 (GRCm39) T205A probably benign Het
Fbxw7 T C 3: 84,874,872 (GRCm39) probably null Het
Fmn1 C T 2: 113,356,159 (GRCm39) P965S unknown Het
Fndc7 C T 3: 108,777,979 (GRCm39) V412M possibly damaging Het
G2e3 C A 12: 51,415,839 (GRCm39) A525E probably damaging Het
Gcfc2 C T 6: 81,918,371 (GRCm39) R354C probably damaging Het
Ggt1 T A 10: 75,421,508 (GRCm39) N510K probably damaging Het
Gnas C T 2: 174,140,820 (GRCm39) T389I unknown Het
Hapln3 C T 7: 78,767,121 (GRCm39) R306H probably benign Het
Hydin T C 8: 111,320,444 (GRCm39) L4496P possibly damaging Het
Iqgap2 T A 13: 95,867,952 (GRCm39) I219L probably benign Het
Kcnj2 T C 11: 110,963,309 (GRCm39) S234P probably benign Het
Lipf T A 19: 33,950,465 (GRCm39) S286T probably damaging Het
Lrrc32 G T 7: 98,148,545 (GRCm39) G442W probably damaging Het
Megf10 GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA GGCAGCAACAGCACCAGCAGCA 18: 57,427,071 (GRCm39) probably benign Het
Mtmr4 T C 11: 87,488,550 (GRCm39) V68A probably damaging Het
Mug2 T C 6: 122,055,754 (GRCm39) S1146P possibly damaging Het
Naa35 T C 13: 59,745,919 (GRCm39) I75T probably benign Het
Nepn T A 10: 52,277,274 (GRCm39) F337I probably benign Het
Nf1 A G 11: 79,316,432 (GRCm39) M496V probably benign Het
Nthl1 A T 17: 24,857,631 (GRCm39) I277F possibly damaging Het
Or10a3 A C 7: 108,479,889 (GRCm39) I308S probably damaging Het
Or4p8 T C 2: 88,728,122 (GRCm39) probably benign Het
Rad54l2 G A 9: 106,594,422 (GRCm39) R369W probably damaging Het
Ryr3 T A 2: 112,465,691 (GRCm39) T4828S probably benign Het
Slc25a54 T A 3: 109,010,133 (GRCm39) C211S probably damaging Het
Ube4b C T 4: 149,483,238 (GRCm39) R10Q possibly damaging Het
Usp9y G A Y: 1,304,411 (GRCm39) Q2440* probably null Het
Yars1 G T 4: 129,104,291 (GRCm39) V312L probably benign Het
Zfp26 G A 9: 20,352,630 (GRCm39) T145I probably benign Het
Zic5 T C 14: 122,701,525 (GRCm39) N402S unknown Het
Other mutations in Osr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Osr1 APN 12 9,629,432 (GRCm39) missense probably benign 0.00
IGL01508:Osr1 APN 12 9,629,370 (GRCm39) missense probably damaging 1.00
IGL02583:Osr1 APN 12 9,629,675 (GRCm39) missense probably damaging 1.00
R0077:Osr1 UTSW 12 9,629,691 (GRCm39) missense probably damaging 1.00
R0218:Osr1 UTSW 12 9,629,639 (GRCm39) missense probably benign 0.09
R1223:Osr1 UTSW 12 9,629,699 (GRCm39) missense probably damaging 1.00
R1568:Osr1 UTSW 12 9,629,798 (GRCm39) splice site probably null
R1924:Osr1 UTSW 12 9,629,268 (GRCm39) missense probably damaging 1.00
R1939:Osr1 UTSW 12 9,629,687 (GRCm39) missense probably damaging 1.00
R5580:Osr1 UTSW 12 9,629,325 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCTGGAGGAAGGTGACCTACTC -3'
(R):5'- CTGGCTTAGGGTGAATGACG -3'

Sequencing Primer
(F):5'- GGAAGGTGACCTACTCTAAACATCTC -3'
(R):5'- TTAGGGTGAATGACGTGGGGAAAC -3'
Posted On 2019-11-12