Incidental Mutation 'IGL01705:Reep1'
| ID |
104566 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Reep1
|
| Ensembl Gene |
ENSMUSG00000052852 |
| Gene Name |
receptor accessory protein 1 |
| Synonyms |
D6Ertd253e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01705
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
71684545-71787694 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71750272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 95
(T95A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121469]
[ENSMUST00000212631]
[ENSMUST00000212792]
|
| AlphaFold |
Q8BGH4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121469
AA Change: T95A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112662
Gene: ENSMUSG00000052852
AA Change: T95A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TB2_DP1_HVA22
|
7 |
95 |
1.1e-35 |
PFAM |
|
low complexity region
|
128 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212631
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212792
AA Change: T95A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| 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 mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spastic paraplegia in aged mice with reduced ER complexity in cortical motor neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,166,038 (GRCm39) |
T1077A |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,396,515 (GRCm39) |
V2504A |
possibly damaging |
Het |
| Anks3 |
A |
T |
16: 4,765,587 (GRCm39) |
W172R |
probably benign |
Het |
| Asap2 |
T |
A |
12: 21,299,369 (GRCm39) |
N633K |
possibly damaging |
Het |
| Astn1 |
A |
T |
1: 158,331,883 (GRCm39) |
S326C |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,840,736 (GRCm39) |
K900E |
possibly damaging |
Het |
| Cd5 |
A |
T |
19: 10,703,659 (GRCm39) |
|
probably null |
Het |
| D130043K22Rik |
T |
A |
13: 25,041,924 (GRCm39) |
N284K |
probably benign |
Het |
| Dtna |
C |
T |
18: 23,678,788 (GRCm39) |
A38V |
probably damaging |
Het |
| Eny2 |
C |
A |
15: 44,295,831 (GRCm39) |
|
probably null |
Het |
| Grm5 |
A |
G |
7: 87,779,254 (GRCm39) |
Q930R |
possibly damaging |
Het |
| Igkv4-73 |
A |
T |
6: 69,174,709 (GRCm39) |
|
noncoding transcript |
Het |
| Lama2 |
A |
T |
10: 27,065,270 (GRCm39) |
|
probably benign |
Het |
| Lipg |
A |
G |
18: 75,081,042 (GRCm39) |
|
probably null |
Het |
| Neto2 |
T |
C |
8: 86,367,632 (GRCm39) |
K371E |
probably damaging |
Het |
| Or8g52 |
T |
C |
9: 39,630,877 (GRCm39) |
M118T |
possibly damaging |
Het |
| Paxbp1 |
A |
G |
16: 90,813,876 (GRCm39) |
F834L |
probably benign |
Het |
| Paxip1 |
A |
T |
5: 27,953,857 (GRCm39) |
S946R |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,727,879 (GRCm39) |
|
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,308,401 (GRCm39) |
L331P |
probably damaging |
Het |
| Rfx2 |
A |
G |
17: 57,092,303 (GRCm39) |
Y332H |
possibly damaging |
Het |
| Smchd1 |
A |
T |
17: 71,688,393 (GRCm39) |
D1288E |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,930,046 (GRCm39) |
M582V |
probably benign |
Het |
| Susd1 |
A |
G |
4: 59,332,931 (GRCm39) |
|
probably benign |
Het |
| Syt9 |
T |
G |
7: 107,035,559 (GRCm39) |
L192R |
probably damaging |
Het |
| Tlr6 |
T |
C |
5: 65,111,473 (GRCm39) |
K478R |
probably benign |
Het |
| Tmem115 |
G |
T |
9: 107,412,403 (GRCm39) |
L242F |
probably benign |
Het |
| Tmt1b |
T |
A |
10: 128,794,731 (GRCm39) |
I198F |
probably benign |
Het |
| Tnfaip1 |
T |
C |
11: 78,416,294 (GRCm39) |
D263G |
probably benign |
Het |
| Ubqln3 |
T |
A |
7: 103,791,884 (GRCm39) |
I69F |
probably damaging |
Het |
| Vps52 |
T |
C |
17: 34,185,042 (GRCm39) |
L712P |
probably damaging |
Het |
|
| Other mutations in Reep1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03057:Reep1
|
APN |
6 |
71,784,765 (GRCm39) |
splice site |
probably benign |
|
|
R1596:Reep1
|
UTSW |
6 |
71,733,421 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1899:Reep1
|
UTSW |
6 |
71,757,781 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2201:Reep1
|
UTSW |
6 |
71,750,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2252:Reep1
|
UTSW |
6 |
71,733,426 (GRCm39) |
splice site |
probably null |
|
|
R3787:Reep1
|
UTSW |
6 |
71,772,199 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4760:Reep1
|
UTSW |
6 |
71,684,985 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5657:Reep1
|
UTSW |
6 |
71,738,358 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6619:Reep1
|
UTSW |
6 |
71,784,826 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6659:Reep1
|
UTSW |
6 |
71,750,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7080:Reep1
|
UTSW |
6 |
71,757,749 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7299:Reep1
|
UTSW |
6 |
71,738,373 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7730:Reep1
|
UTSW |
6 |
71,757,725 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9333:Reep1
|
UTSW |
6 |
71,772,198 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9486:Reep1
|
UTSW |
6 |
71,684,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF019:Reep1
|
UTSW |
6 |
71,684,953 (GRCm39) |
start codon destroyed |
probably null |
|
|
RF023:Reep1
|
UTSW |
6 |
71,684,952 (GRCm39) |
start codon destroyed |
probably null |
|
|
RF029:Reep1
|
UTSW |
6 |
71,684,950 (GRCm39) |
start codon destroyed |
probably null |
|
|
RF032:Reep1
|
UTSW |
6 |
71,684,952 (GRCm39) |
start codon destroyed |
probably null |
|
|
RF042:Reep1
|
UTSW |
6 |
71,684,950 (GRCm39) |
start codon destroyed |
probably null |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation