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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |