Incidental Mutation 'R5657:Reep1'
ID |
442377 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Reep1
|
Ensembl Gene |
ENSMUSG00000052852 |
Gene Name |
receptor accessory protein 1 |
Synonyms |
D6Ertd253e |
MMRRC Submission |
043171-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5657 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
71684545-71787694 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71738358 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 39
(M39V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148678
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121469]
[ENSMUST00000212631]
[ENSMUST00000212792]
|
AlphaFold |
Q8BGH4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000121469
AA Change: M39V
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000112662 Gene: ENSMUSG00000052852 AA Change: M39V
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 |
possibly damaging
Transcript: ENSMUST00000212631
AA Change: M39V
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212792
AA Change: M39V
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl5 |
A |
G |
5: 31,051,390 (GRCm39) |
Y533C |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,991,979 (GRCm39) |
V4421A |
probably damaging |
Het |
Bach1 |
A |
G |
16: 87,516,173 (GRCm39) |
K238R |
probably benign |
Het |
Bloc1s6 |
T |
A |
2: 122,580,577 (GRCm39) |
V12D |
probably benign |
Het |
Clca3b |
C |
A |
3: 144,533,144 (GRCm39) |
L629F |
probably benign |
Het |
Clhc1 |
A |
G |
11: 29,511,431 (GRCm39) |
I292V |
probably benign |
Het |
Col27a1 |
T |
C |
4: 63,143,547 (GRCm39) |
S412P |
probably damaging |
Het |
Col6a4 |
A |
G |
9: 105,949,397 (GRCm39) |
I746T |
probably damaging |
Het |
Cracr2a |
G |
A |
6: 127,580,970 (GRCm39) |
A49T |
probably damaging |
Het |
Cyb561d1 |
A |
G |
3: 108,108,008 (GRCm39) |
I28T |
possibly damaging |
Het |
Dnah11 |
T |
A |
12: 117,847,352 (GRCm39) |
M4264L |
probably damaging |
Het |
Dnajc13 |
A |
G |
9: 104,105,736 (GRCm39) |
L412S |
probably damaging |
Het |
Dpf3 |
T |
C |
12: 83,371,785 (GRCm39) |
N150S |
probably damaging |
Het |
Epha2 |
T |
C |
4: 141,050,805 (GRCm39) |
C854R |
probably damaging |
Het |
Fat2 |
G |
T |
11: 55,201,507 (GRCm39) |
Y522* |
probably null |
Het |
Foxm1 |
A |
T |
6: 128,350,351 (GRCm39) |
S551C |
possibly damaging |
Het |
Galnt12 |
T |
C |
4: 47,104,150 (GRCm39) |
V136A |
possibly damaging |
Het |
Gm6647 |
T |
G |
5: 13,818,835 (GRCm39) |
|
noncoding transcript |
Het |
Grin2b |
T |
A |
6: 135,710,085 (GRCm39) |
I1154F |
possibly damaging |
Het |
Hmcn1 |
A |
G |
1: 150,534,313 (GRCm39) |
V2987A |
probably benign |
Het |
Jade2 |
A |
G |
11: 51,707,814 (GRCm39) |
S800P |
probably damaging |
Het |
Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
Or1e33 |
T |
C |
11: 73,738,366 (GRCm39) |
N195S |
probably damaging |
Het |
Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
Plod1 |
T |
C |
4: 148,003,238 (GRCm39) |
E529G |
possibly damaging |
Het |
Plppr2 |
T |
C |
9: 21,858,911 (GRCm39) |
C343R |
probably damaging |
Het |
Prpf38a |
T |
C |
4: 108,425,621 (GRCm39) |
D219G |
probably damaging |
Het |
Ptpra |
G |
A |
2: 130,346,204 (GRCm39) |
E122K |
probably benign |
Het |
Rabl2 |
T |
C |
15: 89,472,416 (GRCm39) |
M38V |
probably benign |
Het |
Rsf1 |
GC |
GCGGCGGCGTC |
7: 97,229,141 (GRCm39) |
|
probably benign |
Het |
Slc26a10 |
T |
C |
10: 127,010,833 (GRCm39) |
|
probably benign |
Het |
Sun2 |
C |
A |
15: 79,612,150 (GRCm39) |
E510* |
probably null |
Het |
Tanc1 |
A |
G |
2: 59,665,051 (GRCm39) |
|
probably null |
Het |
Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
Tor1aip1 |
G |
T |
1: 155,883,234 (GRCm39) |
H205N |
probably damaging |
Het |
Trpc6 |
C |
T |
9: 8,609,808 (GRCm39) |
T92I |
probably benign |
Het |
Vmn2r100 |
T |
A |
17: 19,725,178 (GRCm39) |
F36I |
probably benign |
Het |
Zfp787 |
T |
C |
7: 6,136,053 (GRCm39) |
Y66C |
probably damaging |
Het |
|
Other mutations in Reep1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01705:Reep1
|
APN |
6 |
71,750,272 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTAAGCTTGCTCTGTCTGC -3'
(R):5'- TCTTAGGGATCTCAAGAGGCTCC -3'
Sequencing Primer
(F):5'- TCTGCGGACCAGCCATTTG -3'
(R):5'- GGATCTCAAGAGGCTCCAGTTAAC -3'
|
Posted On |
2016-11-09 |