Incidental Mutation 'IGL00155:Ormdl2'
ID 1208
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ormdl2
Ensembl Gene ENSMUSG00000025353
Gene Name ORM1-like 2 (S. cerevisiae)
Synonyms 0610012C09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # IGL00155
Quality Score
Status
Chromosome 10
Chromosomal Location 128653771-128657498 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 128655944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 69 (G69W)
Ref Sequence ENSEMBL: ENSMUSP00000151697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026409] [ENSMUST00000026410] [ENSMUST00000105230] [ENSMUST00000217685] [ENSMUST00000217745] [ENSMUST00000219215] [ENSMUST00000219524] [ENSMUST00000219512] [ENSMUST00000219508] [ENSMUST00000220381]
AlphaFold Q9CQZ0
Predicted Effect probably damaging
Transcript: ENSMUST00000026409
AA Change: G69W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026409
Gene: ENSMUSG00000025353
AA Change: G69W

DomainStartEndE-ValueType
Pfam:ORMDL 11 146 4.4e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026410
SMART Domains Protein: ENSMUSP00000026410
Gene: ENSMUSG00000025354

DomainStartEndE-ValueType
low complexity region 17 28 N/A INTRINSIC
low complexity region 76 90 N/A INTRINSIC
low complexity region 164 176 N/A INTRINSIC
transmembrane domain 300 322 N/A INTRINSIC
transmembrane domain 327 349 N/A INTRINSIC
DnaJ 443 500 1.3e-21 SMART
Pfam:Jiv90 532 621 5.9e-40 PFAM
low complexity region 690 700 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105230
SMART Domains Protein: ENSMUSP00000100863
Gene: ENSMUSG00000078427

DomainStartEndE-ValueType
SAP 8 42 2.49e-10 SMART
low complexity region 43 80 N/A INTRINSIC
internal_repeat_1 117 130 5.45e-5 PROSPERO
low complexity region 165 180 N/A INTRINSIC
internal_repeat_1 197 210 5.45e-5 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000217685
AA Change: G10W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000217745
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218622
Predicted Effect probably damaging
Transcript: ENSMUST00000219215
AA Change: G69W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000219524
AA Change: G69W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000219512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220150
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219473
Predicted Effect probably benign
Transcript: ENSMUST00000219508
Predicted Effect probably benign
Transcript: ENSMUST00000220381
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,590,235 (GRCm39) F498S probably damaging Het
Arhgap11a A G 2: 113,664,601 (GRCm39) S561P probably benign Het
Best3 T C 10: 116,824,632 (GRCm39) Y33H probably damaging Het
Cd209b T A 8: 3,969,945 (GRCm39) probably benign Het
Cep152 A G 2: 125,405,808 (GRCm39) S1575P probably benign Het
Crabp2 A G 3: 87,859,506 (GRCm39) Y52C probably damaging Het
Crybg1 T C 10: 43,868,505 (GRCm39) D1017G probably damaging Het
Ctnna2 A T 6: 76,957,744 (GRCm39) W137R probably damaging Het
Cxcl9 T A 5: 92,471,728 (GRCm39) H104L possibly damaging Het
Ddr2 A G 1: 169,811,996 (GRCm39) I742T possibly damaging Het
Frem1 A G 4: 82,877,626 (GRCm39) V223A possibly damaging Het
Fzd10 T A 5: 128,678,592 (GRCm39) I104N probably damaging Het
Greb1 A G 12: 16,761,962 (GRCm39) S473P probably damaging Het
Gtf2i T C 5: 134,271,602 (GRCm39) Y873C probably damaging Het
Igsf6 T A 7: 120,669,876 (GRCm39) K89* probably null Het
Ints3 A G 3: 90,313,636 (GRCm39) F331L probably damaging Het
Kcnh3 A T 15: 99,140,354 (GRCm39) H1080L possibly damaging Het
Mettl15 A T 2: 108,923,521 (GRCm39) Y300* probably null Het
Mms19 A G 19: 41,936,672 (GRCm39) F654L probably benign Het
Myc A G 15: 61,861,669 (GRCm39) H425R probably benign Het
Ntn1 G T 11: 68,117,445 (GRCm39) probably benign Het
Pdpr T C 8: 111,828,704 (GRCm39) V69A possibly damaging Het
Rbbp6 T C 7: 122,587,908 (GRCm39) I254T probably damaging Het
Sema6d A G 2: 124,501,785 (GRCm39) R543G possibly damaging Het
Slc18a1 C T 8: 69,503,998 (GRCm39) A314T probably damaging Het
Slc22a26 A G 19: 7,760,201 (GRCm39) L514P probably damaging Het
Slc22a28 A C 19: 8,107,567 (GRCm39) S167A possibly damaging Het
Speer1m A G 5: 11,971,377 (GRCm39) S110G possibly damaging Het
Tchh A G 3: 93,352,606 (GRCm39) E682G unknown Het
Thbs2 A T 17: 14,889,097 (GRCm39) M1134K probably damaging Het
Tmem26 A G 10: 68,611,184 (GRCm39) S218G probably damaging Het
Tmprss11c A T 5: 86,387,254 (GRCm39) S208R probably benign Het
Tnfrsf8 T C 4: 145,019,161 (GRCm39) probably null Het
Ush2a T C 1: 188,596,875 (GRCm39) S3872P probably benign Het
Vmn1r69 T C 7: 10,313,879 (GRCm39) N205S probably benign Het
Vmn2r54 T A 7: 12,365,840 (GRCm39) probably benign Het
Wwtr1 A T 3: 57,370,942 (GRCm39) M328K possibly damaging Het
Zfp64 G A 2: 168,768,601 (GRCm39) S337L probably benign Het
Other mutations in Ormdl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02657:Ormdl2 APN 10 128,656,186 (GRCm39) missense probably benign 0.00
R0733:Ormdl2 UTSW 10 128,655,868 (GRCm39) missense probably damaging 1.00
R7206:Ormdl2 UTSW 10 128,656,284 (GRCm39) missense possibly damaging 0.92
R8262:Ormdl2 UTSW 10 128,654,837 (GRCm39) missense possibly damaging 0.76
Posted On 2011-07-12