Incidental Mutation 'R1924:Osr1'
ID 213301
Institutional Source Beutler Lab
Gene Symbol Osr1
Ensembl Gene ENSMUSG00000048387
Gene Name odd-skipped related transcription factor 1
Synonyms Odd1
MMRRC Submission 039942-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.774) question?
Stock # R1924 (G1)
Quality Score 115
Status Validated
Chromosome 12
Chromosomal Location 9624442-9631500 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 9629268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 47 (L47R)
Ref Sequence ENSEMBL: ENSMUSP00000151780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057021] [ENSMUST00000217975]
AlphaFold Q9WVG7
Predicted Effect probably damaging
Transcript: ENSMUST00000057021
AA Change: L47R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055486
Gene: ENSMUSG00000048387
AA Change: L47R

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: L47R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.9%
Validation Efficiency 94% (63/67)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb G A 5: 114,368,781 (GRCm39) M1666I possibly damaging Het
Adamts13 A T 2: 26,874,153 (GRCm39) Q434L probably damaging Het
Adgrg3 G A 8: 95,762,562 (GRCm39) R204H probably benign Het
Arhgef28 A C 13: 98,073,324 (GRCm39) probably benign Het
AU041133 T A 10: 81,987,101 (GRCm39) C251* probably null Het
Axin2 T A 11: 108,833,794 (GRCm39) N580K probably benign Het
C4b A G 17: 34,948,631 (GRCm39) C1560R probably damaging Het
Cacna1g A G 11: 94,334,880 (GRCm39) I809T possibly damaging Het
Cacna1s C A 1: 136,016,755 (GRCm39) probably null Het
Cadps2 T C 6: 23,688,857 (GRCm39) S151G probably damaging Het
Capn1 T C 19: 6,040,086 (GRCm39) probably null Het
Capn9 A G 8: 125,302,965 (GRCm39) S28G probably benign Het
Ccdc73 A G 2: 104,822,637 (GRCm39) D862G probably damaging Het
Cdk17 T C 10: 93,061,979 (GRCm39) L237P probably damaging Het
Cfap251 A G 5: 123,440,802 (GRCm39) I1120V possibly damaging Het
Chad A C 11: 94,456,384 (GRCm39) N154T possibly damaging Het
Cog1 C T 11: 113,547,038 (GRCm39) T544I probably benign Het
Cracd A T 5: 77,006,470 (GRCm39) T944S unknown Het
Ctnna2 T C 6: 76,931,830 (GRCm39) E590G possibly damaging Het
Dapk2 T A 9: 66,072,642 (GRCm39) M6K probably benign Het
Dchs1 T C 7: 105,421,487 (GRCm39) E311G possibly damaging Het
Ddr2 T A 1: 169,809,641 (GRCm39) T779S probably benign Het
Dhtkd1 A G 2: 5,916,744 (GRCm39) V644A probably damaging Het
Dock2 A G 11: 34,414,934 (GRCm39) V147A possibly damaging Het
Ear10 A T 14: 44,160,357 (GRCm39) *157K probably null Het
Gm10801 T C 2: 98,494,197 (GRCm39) I113T probably damaging Het
Gmps T G 3: 63,906,049 (GRCm39) C449G probably damaging Het
Grin3a A G 4: 49,844,988 (GRCm39) S32P possibly damaging Het
Igkv1-115 A T 6: 68,138,592 (GRCm39) D65V probably damaging Het
Klk1b4 A G 7: 43,859,105 (GRCm39) N41S probably benign Het
Krt26 CTAGTA CTA 11: 99,224,352 (GRCm39) probably benign Het
Lrrc8a T A 2: 30,145,262 (GRCm39) D25E probably damaging Het
Muc5b A G 7: 141,421,960 (GRCm39) R4426G possibly damaging Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myo5a G T 9: 75,023,489 (GRCm39) D17Y probably damaging Het
Nat1 C G 8: 67,944,076 (GRCm39) L154V probably benign Het
Nek3 T A 8: 22,647,047 (GRCm39) T163S probably damaging Het
Or2w25 G T 11: 59,503,949 (GRCm39) R53L possibly damaging Het
Or5p80 A G 7: 108,229,562 (GRCm39) D121G probably damaging Het
Or6c204 A G 10: 129,023,044 (GRCm39) I82T possibly damaging Het
Or8d2b T A 9: 38,789,147 (GRCm39) I225N probably damaging Het
Or8g32 A T 9: 39,305,163 (GRCm39) E22D possibly damaging Het
Or9s13 T C 1: 92,548,525 (GRCm39) L299P probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pik3ap1 T A 19: 41,291,053 (GRCm39) N493I possibly damaging Het
Polr3e T A 7: 120,539,820 (GRCm39) N522K probably damaging Het
Rabgap1 T A 2: 37,385,771 (GRCm39) probably null Het
Rp1l1 C A 14: 64,268,992 (GRCm39) A1526E probably benign Het
Scn3a T A 2: 65,291,878 (GRCm39) I1623F probably damaging Het
Serpinb9e A G 13: 33,437,428 (GRCm39) T104A probably benign Het
Sh3rf3 T C 10: 58,939,989 (GRCm39) probably benign Het
Slc30a3 A G 5: 31,245,748 (GRCm39) Y213H probably damaging Het
Sptbn4 C T 7: 27,106,563 (GRCm39) R955H probably damaging Het
Tfb1m A T 17: 3,569,946 (GRCm39) Y307N probably damaging Het
Tnrc6b G T 15: 80,768,407 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ulk1 A G 5: 110,938,936 (GRCm39) Y501H probably damaging Het
Zbtb17 A G 4: 141,191,914 (GRCm39) H315R probably damaging Het
Zeb2 A G 2: 44,892,624 (GRCm39) Y142H probably damaging Het
Zfr T C 15: 12,160,715 (GRCm39) S763P possibly damaging 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
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
R7713:Osr1 UTSW 12 9,629,253 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTTGAAATCATTGCGGTTCCC -3'
(R):5'- GCCAGGTTAGCGAAATCAAAGC -3'

Sequencing Primer
(F):5'- TTCCCAGCGACAGAAATGG -3'
(R):5'- TCTTAAGTGCTGCGCCG -3'
Posted On 2014-07-14