Incidental Mutation 'IGL02321:Orm2'
ID288218
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: 0.057) question?
Stock #IGL02321
Quality Score
Status
Chromosome4
Chromosomal Location63362449-63365878 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 63362992 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 56 (Y56H)
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 damaging
Transcript: ENSMUST00000075341
AA Change: Y56H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074810
Gene: ENSMUSG00000061540
AA Change: Y56H

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,216,572 E1476G probably benign Het
Acsf3 C T 8: 122,780,114 R49C possibly damaging Het
Alg2 T C 4: 47,474,249 Y13C probably benign Het
Apoa4 A G 9: 46,242,920 D273G probably damaging Het
Axl C T 7: 25,758,769 V854I probably damaging Het
BC117090 A G 16: 36,323,026 probably benign Het
Bicral A G 17: 46,811,947 S673P probably benign Het
C87499 A G 4: 88,630,103 S22P probably benign Het
Camkk2 A G 5: 122,764,127 S40P probably damaging Het
Ccdc39 A G 3: 33,816,958 probably benign Het
Ccdc87 A G 19: 4,841,031 E517G probably damaging Het
Cd22 A G 7: 30,869,883 S603P probably damaging Het
Cdk5rap3 A T 11: 96,913,465 C21S probably damaging Het
Chml G A 1: 175,692,334 P68L possibly damaging Het
Ephb3 T C 16: 21,214,389 V41A probably damaging Het
Gm4781 T A 10: 100,396,890 noncoding transcript Het
Hip1r A T 5: 123,999,890 I760F probably damaging Het
Hyal5 T C 6: 24,891,615 L476P probably benign Het
Isyna1 A G 8: 70,596,270 N333S probably damaging Het
Kcnmb1 A T 11: 33,970,091 probably benign Het
Mark4 T C 7: 19,426,389 T649A probably benign Het
Mgat1 T C 11: 49,261,709 F340L probably benign Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Mmaa T G 8: 79,274,130 Y233S probably damaging Het
Ntsr1 G T 2: 180,538,834 probably null Het
Olfr1394 T G 11: 49,160,775 Y254D probably damaging Het
Pex26 C T 6: 121,193,509 probably benign Het
Pik3r4 C T 9: 105,644,478 A81V probably benign Het
Prr14l G T 5: 32,827,807 T1448K probably benign Het
Ralgapa2 A T 2: 146,412,816 Y799* probably null Het
Ryr1 A C 7: 29,078,696 L2132R probably damaging Het
Sec23b T C 2: 144,579,405 probably null Het
Sirt5 C T 13: 43,379,688 T164I probably damaging Het
Slc9c1 T C 16: 45,556,614 V429A probably benign Het
Spen T C 4: 141,517,130 D198G unknown Het
Syne2 A G 12: 75,918,999 N832D possibly damaging Het
Traf7 C A 17: 24,513,046 C193F possibly damaging Het
Vmn1r191 T A 13: 22,178,898 R229* probably null Het
Vps53 C T 11: 76,048,538 D680N possibly damaging Het
Wbp1l G T 19: 46,654,310 G234V probably benign Het
Wdfy3 A T 5: 101,922,609 S1098T probably damaging Het
Yod1 T A 1: 130,718,951 D188E probably damaging Het
Zbtb25 T C 12: 76,350,133 D105G 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
IGL02401:Orm2 APN 4 63363331 missense probably benign
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