Incidental Mutation 'IGL02719:Erlin2'
ID 304928
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 # IGL02719
Quality Score
Status
Chromosome 8
Chromosomal Location 27513399-27529465 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 27519703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033873] [ENSMUST00000209520] [ENSMUST00000209563] [ENSMUST00000209795] [ENSMUST00000209976] [ENSMUST00000211043] [ENSMUST00000211233]
AlphaFold Q8BFZ9
Predicted Effect probably benign
Transcript: ENSMUST00000033873
SMART Domains Protein: ENSMUSP00000033873
Gene: ENSMUSG00000031483

DomainStartEndE-ValueType
PHB 21 187 1.62e-36 SMART
low complexity region 235 246 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209504
Predicted Effect probably benign
Transcript: ENSMUST00000209520
Predicted Effect probably benign
Transcript: ENSMUST00000209563
Predicted Effect probably benign
Transcript: ENSMUST00000209795
Predicted Effect probably benign
Transcript: ENSMUST00000209976
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,632,150 (GRCm39) D160G probably damaging Het
Aak1 A G 6: 86,936,152 (GRCm39) probably benign Het
Anp32e A G 3: 95,845,224 (GRCm39) probably benign Het
Aspscr1 T A 11: 120,568,405 (GRCm39) L61Q probably damaging Het
Btrc A G 19: 45,491,589 (GRCm39) I89M probably damaging Het
Ccdc175 G A 12: 72,221,899 (GRCm39) T141M probably damaging Het
Cep70 G A 9: 99,157,775 (GRCm39) V225I probably damaging Het
Cilk1 A G 9: 78,047,301 (GRCm39) E67G probably damaging Het
Col4a1 T C 8: 11,281,950 (GRCm39) probably benign Het
Cpne1 T C 2: 155,920,137 (GRCm39) Y214C probably damaging Het
Crtc3 T C 7: 80,268,406 (GRCm39) probably null Het
Cul2 C T 18: 3,434,052 (GRCm39) A683V probably damaging Het
Ddx47 A G 6: 134,994,114 (GRCm39) N131D probably benign Het
Dnah7b T G 1: 46,138,768 (GRCm39) probably benign Het
Dnai2 T C 11: 114,642,737 (GRCm39) L446P probably damaging Het
Ergic2 T C 6: 148,106,317 (GRCm39) T58A possibly damaging Het
Fermt2 T C 14: 45,742,113 (GRCm39) T78A probably damaging Het
Flg2 G T 3: 93,127,438 (GRCm39) G97* probably null Het
Gm7356 A G 17: 14,221,537 (GRCm39) I164T probably damaging Het
Gucy1a2 T A 9: 3,894,719 (GRCm39) probably benign Het
Heatr5b C T 17: 79,122,969 (GRCm39) R670H probably damaging Het
Hspa4l T C 3: 40,727,090 (GRCm39) V476A possibly damaging Het
Itpkc A T 7: 26,927,475 (GRCm39) D146E possibly damaging Het
Kcnk3 T C 5: 30,779,324 (GRCm39) F125L probably damaging Het
Kif12 T A 4: 63,086,033 (GRCm39) M411L probably benign Het
Krtap24-1 T C 16: 88,409,094 (GRCm39) S11G probably benign Het
Lilra6 A T 7: 3,915,991 (GRCm39) H289Q possibly damaging Het
Musk A C 4: 58,356,496 (GRCm39) N469H probably benign Het
Myom1 A G 17: 71,413,349 (GRCm39) probably benign Het
Nagpa A G 16: 5,019,357 (GRCm39) V46A possibly damaging Het
Or4k37 T A 2: 111,159,590 (GRCm39) Y275* probably null Het
Or5h25 T A 16: 58,930,536 (GRCm39) T146S probably benign Het
Or8g17 T C 9: 38,930,312 (GRCm39) N175S probably benign Het
Parp6 T A 9: 59,538,021 (GRCm39) V222E probably benign Het
Pde3b T A 7: 114,105,483 (GRCm39) S472T probably damaging Het
Peak1 A G 9: 56,134,490 (GRCm39) S1314P probably damaging Het
Pgc A G 17: 48,039,792 (GRCm39) Y62C probably damaging Het
Pitpnm2 A G 5: 124,278,665 (GRCm39) C189R probably damaging Het
Pla2g15 G T 8: 106,886,828 (GRCm39) Q106H probably benign Het
Pla2g4c T A 7: 13,064,019 (GRCm39) S93T probably damaging Het
Rbks G T 5: 31,809,145 (GRCm39) probably benign Het
Retsat A G 6: 72,580,642 (GRCm39) T207A possibly damaging Het
Slc25a32 A G 15: 38,963,300 (GRCm39) Y174H probably benign Het
Slc35f2 T A 9: 53,717,026 (GRCm39) probably benign Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Sos2 A G 12: 69,663,958 (GRCm39) Y476H probably benign Het
Ssh2 A T 11: 77,316,413 (GRCm39) N296I probably damaging Het
Sspo G T 6: 48,459,601 (GRCm39) R3320L probably benign Het
Synj2 A G 17: 6,047,192 (GRCm39) I166V probably benign Het
Tpp2 T C 1: 43,979,391 (GRCm39) V96A probably benign Het
Vmn2r3 A T 3: 64,183,031 (GRCm39) W223R probably damaging Het
Wdr17 T C 8: 55,146,089 (GRCm39) probably null Het
Zfr2 T A 10: 81,080,546 (GRCm39) C407S probably damaging Het
Other mutations in Erlin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01387:Erlin2 APN 8 27,526,576 (GRCm39) missense probably benign
IGL01534:Erlin2 APN 8 27,521,985 (GRCm39) nonsense probably null
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 2015-04-16