Incidental Mutation 'R6619:Reep1'
ID |
524274 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Reep1
|
Ensembl Gene |
ENSMUSG00000052852 |
Gene Name |
receptor accessory protein 1 |
Synonyms |
D6Ertd253e |
MMRRC Submission |
044742-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6619 (G1)
|
Quality Score |
158.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
71684545-71787694 bp(+) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
T to C
at 71784826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112662
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121469]
[ENSMUST00000212631]
[ENSMUST00000212792]
|
AlphaFold |
Q8BGH4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000121469
|
SMART Domains |
Protein: ENSMUSP00000112662 Gene: ENSMUSG00000052852
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 |
noncoding transcript
Transcript: ENSMUST00000205395
|
Predicted Effect |
unknown
Transcript: ENSMUST00000212631
AA Change: S138P
|
Predicted Effect |
unknown
Transcript: ENSMUST00000212792
AA Change: S279P
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
Validation Efficiency |
100% (37/37) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp13a5 |
G |
A |
16: 29,167,833 (GRCm39) |
P109S |
probably benign |
Het |
Baiap2l1 |
T |
C |
5: 144,222,916 (GRCm39) |
K106R |
probably benign |
Het |
Coro6 |
A |
G |
11: 77,357,030 (GRCm39) |
I111V |
possibly damaging |
Het |
Crocc2 |
A |
G |
1: 93,118,223 (GRCm39) |
E382G |
probably benign |
Het |
Dhrs7l |
A |
T |
12: 72,668,724 (GRCm39) |
N44K |
possibly damaging |
Het |
Dnah5 |
C |
A |
15: 28,409,266 (GRCm39) |
N3561K |
probably benign |
Het |
Dsc2 |
T |
A |
18: 20,165,335 (GRCm39) |
E879D |
probably benign |
Het |
Frk |
A |
G |
10: 34,481,835 (GRCm39) |
Y375C |
probably benign |
Het |
Herc2 |
A |
T |
7: 55,717,840 (GRCm39) |
R61* |
probably null |
Het |
Jarid2 |
A |
G |
13: 45,027,872 (GRCm39) |
D146G |
probably damaging |
Het |
Lancl2 |
C |
A |
6: 57,699,566 (GRCm39) |
T127K |
probably damaging |
Het |
Large1 |
G |
A |
8: 73,609,892 (GRCm39) |
Q359* |
probably null |
Het |
Mast2 |
C |
A |
4: 116,173,694 (GRCm39) |
E521* |
probably null |
Het |
Mrc1 |
T |
A |
2: 14,299,597 (GRCm39) |
|
probably null |
Het |
Obi1 |
T |
C |
14: 104,759,993 (GRCm39) |
H19R |
possibly damaging |
Het |
Or4z4 |
A |
G |
19: 12,076,727 (GRCm39) |
I92T |
probably damaging |
Het |
Or5ak23 |
T |
C |
2: 85,244,425 (GRCm39) |
N266S |
probably benign |
Het |
Or6c38 |
A |
T |
10: 128,929,323 (GRCm39) |
D173E |
possibly damaging |
Het |
Or8k38 |
T |
C |
2: 86,488,406 (GRCm39) |
Y132C |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
P2ry14 |
T |
C |
3: 59,023,154 (GRCm39) |
Y102C |
probably damaging |
Het |
Pcdhga6 |
T |
A |
18: 37,842,702 (GRCm39) |
D807E |
probably benign |
Het |
Pcdhgb4 |
T |
A |
18: 37,854,737 (GRCm39) |
N377K |
probably damaging |
Het |
Phf13 |
T |
A |
4: 152,076,114 (GRCm39) |
N263Y |
probably damaging |
Het |
Rab19 |
T |
A |
6: 39,365,060 (GRCm39) |
S107T |
probably damaging |
Het |
Rasgrf2 |
A |
T |
13: 92,165,027 (GRCm39) |
F380I |
probably damaging |
Het |
Rpgrip1l |
C |
T |
8: 91,959,499 (GRCm39) |
E1134K |
possibly damaging |
Het |
Serpina3m |
A |
T |
12: 104,357,766 (GRCm39) |
Y230F |
probably benign |
Het |
Skint3 |
T |
C |
4: 112,111,061 (GRCm39) |
I62T |
probably damaging |
Het |
Smg6 |
T |
C |
11: 74,823,279 (GRCm39) |
|
probably null |
Het |
Sp4 |
G |
A |
12: 118,263,077 (GRCm39) |
T323I |
possibly damaging |
Het |
Strc |
A |
G |
2: 121,198,913 (GRCm39) |
I1378T |
probably damaging |
Het |
Tepsin |
C |
T |
11: 119,986,428 (GRCm39) |
G128D |
probably benign |
Het |
Togaram2 |
A |
G |
17: 71,996,266 (GRCm39) |
N89D |
probably damaging |
Het |
Trim36 |
T |
C |
18: 46,321,475 (GRCm39) |
T191A |
probably damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,077,980 (GRCm39) |
|
probably null |
Het |
Zfp418 |
G |
A |
7: 7,184,895 (GRCm39) |
C286Y |
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 |
R5657:Reep1
|
UTSW |
6 |
71,738,358 (GRCm39) |
missense |
possibly damaging |
0.89 |
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'- GTGCAACGCTAGAATCTGATTCC -3'
(R):5'- AGACGTAAAGGTCACCCTCC -3'
Sequencing Primer
(F):5'- GCAACGCTAGAATCTGATTCCTGTTG -3'
(R):5'- TTAGCCTCTCCCCAGCAGG -3'
|
Posted On |
2018-06-22 |