Incidental Mutation 'IGL02401:Orm2'
ID291874
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Orm2
Ensembl Gene ENSMUSG00000061540
Gene Nameorosomucoid 2
SynonymsOrm-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #IGL02401
Quality Score
Status
Chromosome4
Chromosomal Location63362449-63365878 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 63363331 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 100 (I100L)
Ref Sequence ENSEMBL: ENSMUSP00000074810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006687] [ENSMUST00000035724] [ENSMUST00000075341]
Predicted Effect probably benign
Transcript: ENSMUST00000006687
SMART Domains Protein: ENSMUSP00000006687
Gene: ENSMUSG00000028359

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Lipocalin 40 180 4.8e-25 PFAM
low complexity region 185 199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000035724
SMART Domains Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158

DomainStartEndE-ValueType
low complexity region 140 153 N/A INTRINSIC
coiled coil region 423 458 N/A INTRINSIC
Pfam:AKNA 584 681 4.6e-37 PFAM
low complexity region 760 774 N/A INTRINSIC
low complexity region 1015 1029 N/A INTRINSIC
coiled coil region 1044 1066 N/A INTRINSIC
low complexity region 1296 1317 N/A INTRINSIC
low complexity region 1319 1343 N/A INTRINSIC
coiled coil region 1353 1386 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000075341
AA Change: I100L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000074810
Gene: ENSMUSG00000061540
AA Change: I100L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Lipocalin 41 181 1.5e-23 PFAM
low complexity region 186 200 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef18 C T 8: 3,437,078 R266C probably damaging Het
Asb11 A T X: 164,458,757 probably benign Het
Cnot1 G A 8: 95,756,133 T764M possibly damaging Het
Galns A G 8: 122,605,199 M59T probably damaging Het
Gm5884 A G 6: 128,645,414 noncoding transcript Het
Gm9312 A C 12: 24,252,105 noncoding transcript Het
Lama3 T C 18: 12,557,727 F1268S probably benign Het
Lrp5 A G 19: 3,593,585 C1347R probably damaging Het
Lrrfip1 T C 1: 91,114,928 S352P probably benign Het
Mcfd2 T C 17: 87,257,164 T97A probably damaging Het
Mroh2b A G 15: 4,900,501 N23S possibly damaging Het
Nr1i3 A T 1: 171,216,373 probably benign Het
Olfr1257 T C 2: 89,881,453 F209S probably damaging Het
Olfr912 C T 9: 38,581,355 P26L probably damaging Het
Pbsn A G X: 77,842,523 M126T probably benign Het
Rpgr G T X: 10,158,717 T1026K possibly damaging Het
Sdhaf3 C T 6: 7,038,855 T59M probably benign Het
Shq1 T C 6: 100,648,247 Y217C probably damaging Het
Slc17a8 A T 10: 89,576,660 probably null Het
Slc6a19 A G 13: 73,700,590 I15T probably damaging Het
Smarcd3 A T 5: 24,593,719 V335E probably damaging Het
Sugp2 A G 8: 70,243,171 T265A possibly damaging Het
Tfrc T G 16: 32,617,181 S225R probably damaging Het
Vsig10l T A 7: 43,464,044 L140Q probably damaging Het
Zbtb46 T A 2: 181,423,452 T302S probably benign Het
Znhit1 T C 5: 136,982,659 Y105C probably damaging Het
Other mutations in Orm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00933:Orm2 APN 4 63364152 splice site probably benign
IGL01369:Orm2 APN 4 63362978 missense probably benign 0.00
IGL02321:Orm2 APN 4 63362992 missense probably damaging 0.99
IGL02666:Orm2 APN 4 63365733 missense possibly damaging 0.91
R0383:Orm2 UTSW 4 63363996 missense probably damaging 1.00
R4157:Orm2 UTSW 4 63363985 missense probably null 0.92
R4615:Orm2 UTSW 4 63363299 missense probably damaging 0.99
R6363:Orm2 UTSW 4 63362604 critical splice donor site probably null
R6791:Orm2 UTSW 4 63363959 missense probably benign 0.00
R8301:Orm2 UTSW 4 63363026 missense possibly damaging 0.80
X0024:Orm2 UTSW 4 63364197 missense probably benign 0.28
Posted On2015-04-16