Incidental Mutation 'IGL01387:Erlin2'
ID 79093
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Erlin2
Ensembl Gene ENSMUSG00000031483
Gene Name ER lipid raft associated 2
Synonyms Spfh2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01387
Quality Score
Status
Chromosome 8
Chromosomal Location 27513399-27529465 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27526576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 312 (L312P)
Ref Sequence ENSEMBL: ENSMUSP00000033873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033873] [ENSMUST00000209520] [ENSMUST00000209563] [ENSMUST00000209795] [ENSMUST00000211043] [ENSMUST00000211233]
AlphaFold Q8BFZ9
Predicted Effect probably benign
Transcript: ENSMUST00000033873
AA Change: L312P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033873
Gene: ENSMUSG00000031483
AA Change: L312P

DomainStartEndE-ValueType
PHB 21 187 1.62e-36 SMART
low complexity region 235 246 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000209504
AA Change: L229P
Predicted Effect probably benign
Transcript: ENSMUST00000209520
Predicted Effect probably benign
Transcript: ENSMUST00000209563
Predicted Effect probably benign
Transcript: ENSMUST00000209795
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210445
Predicted Effect probably benign
Transcript: ENSMUST00000211043
Predicted Effect probably benign
Transcript: ENSMUST00000211233
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by mediating ER-associated degradation of activated IP3 receptors. Mutations in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,835,596 (GRCm39) I288T possibly damaging Het
Akr1c13 T A 13: 4,247,794 (GRCm39) probably null Het
Ano2 T C 6: 125,990,240 (GRCm39) L787P probably damaging Het
Arf4 A T 14: 26,374,300 (GRCm39) I73F possibly damaging Het
Atp6v1e1 A G 6: 120,772,732 (GRCm39) probably null Het
Ccdc9 A C 7: 16,018,424 (GRCm39) M1R probably null Het
Cep162 A G 9: 87,093,864 (GRCm39) L838S probably benign Het
Cfap251 T A 5: 123,421,609 (GRCm39) I654N probably damaging Het
Cfi T A 3: 129,668,562 (GRCm39) probably benign Het
Creb3l3 T C 10: 80,927,110 (GRCm39) T107A probably benign Het
Etv1 T G 12: 38,911,326 (GRCm39) M384R probably damaging Het
Exph5 G T 9: 53,285,265 (GRCm39) S782I possibly damaging Het
Fsd1 C T 17: 56,303,733 (GRCm39) S491F probably damaging Het
Fsip2 A G 2: 82,823,326 (GRCm39) N6353S possibly damaging Het
Gk5 T C 9: 96,059,607 (GRCm39) probably null Het
Gm11168 T G 9: 3,005,128 (GRCm39) S202R possibly damaging Het
Hdlbp T C 1: 93,341,310 (GRCm39) D1016G possibly damaging Het
Kpna4 A G 3: 69,009,590 (GRCm39) probably benign Het
Lrrn2 T C 1: 132,866,096 (GRCm39) V387A possibly damaging Het
Or4a76 T A 2: 89,460,964 (GRCm39) R93* probably null Het
Or5bw2 A G 7: 6,573,854 (GRCm39) Y288C probably damaging Het
Or6c33 T A 10: 129,853,710 (GRCm39) M160K probably damaging Het
Or8g23 A G 9: 38,971,617 (GRCm39) L115S probably damaging Het
Or8k37 T C 2: 86,469,594 (GRCm39) T153A probably benign Het
Plekhs1 A G 19: 56,459,403 (GRCm39) Q51R probably benign Het
Rab27b T A 18: 70,118,380 (GRCm39) D179V possibly damaging Het
Rprd2 C T 3: 95,672,631 (GRCm39) R924H probably benign Het
Shprh T C 10: 11,045,998 (GRCm39) I905T probably damaging Het
Trpm8 T C 1: 88,271,009 (GRCm39) L433P probably damaging Het
Urb1 A G 16: 90,554,649 (GRCm39) L1861S possibly damaging Het
Vmn2r124 C A 17: 18,283,188 (GRCm39) T294K probably damaging Het
Znrf3 A T 11: 5,288,656 (GRCm39) C37* probably null Het
Other mutations in Erlin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Erlin2 APN 8 27,521,985 (GRCm39) nonsense probably null
IGL02719:Erlin2 APN 8 27,519,703 (GRCm39) unclassified probably benign
R0193:Erlin2 UTSW 8 27,521,792 (GRCm39) missense possibly damaging 0.82
R4479:Erlin2 UTSW 8 27,515,127 (GRCm39) missense probably benign 0.02
R4878:Erlin2 UTSW 8 27,517,194 (GRCm39) splice site probably null
R4965:Erlin2 UTSW 8 27,519,623 (GRCm39) missense probably damaging 0.99
R5082:Erlin2 UTSW 8 27,523,435 (GRCm39) missense probably damaging 0.98
R5939:Erlin2 UTSW 8 27,526,554 (GRCm39) missense probably benign 0.24
R6172:Erlin2 UTSW 8 27,526,123 (GRCm39) critical splice donor site probably null
R6705:Erlin2 UTSW 8 27,526,468 (GRCm39) missense probably damaging 1.00
R7033:Erlin2 UTSW 8 27,521,792 (GRCm39) missense probably benign 0.03
R7537:Erlin2 UTSW 8 27,521,800 (GRCm39) critical splice donor site probably null
R8161:Erlin2 UTSW 8 27,518,970 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05