Incidental Mutation 'R7752:Pex5'
| ID |
597293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pex5
|
| Ensembl Gene |
ENSMUSG00000005069 |
| Gene Name |
peroxisomal biogenesis factor 5 |
| Synonyms |
ESTM1, Pxr1, peroxisome biogenesis factor 5, PTS1R |
| MMRRC Submission |
045808-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7752 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
124373775-124392026 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124380860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 255
(S255P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035861]
[ENSMUST00000080557]
[ENSMUST00000112530]
[ENSMUST00000112531]
[ENSMUST00000112532]
|
| AlphaFold |
O09012 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035861
AA Change: S255P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000049132
Gene: ENSMUSG00000005069
AA Change: S255P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
231 |
247 |
N/A |
INTRINSIC |
|
TPR
|
371 |
404 |
2.66e0 |
SMART |
|
low complexity region
|
443 |
454 |
N/A |
INTRINSIC |
|
TPR
|
488 |
521 |
1.76e-5 |
SMART |
|
TPR
|
522 |
555 |
1.49e-3 |
SMART |
|
TPR
|
556 |
589 |
3.87e-2 |
SMART |
|
low complexity region
|
622 |
633 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080557
AA Change: S218P
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000079398
Gene: ENSMUSG00000005069
AA Change: S218P
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
334 |
367 |
2.66e0 |
SMART |
|
low complexity region
|
406 |
417 |
N/A |
INTRINSIC |
|
TPR
|
451 |
484 |
1.76e-5 |
SMART |
|
TPR
|
485 |
518 |
1.49e-3 |
SMART |
|
TPR
|
519 |
552 |
3.87e-2 |
SMART |
|
low complexity region
|
585 |
596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112530
AA Change: S248P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108149
Gene: ENSMUSG00000005069
AA Change: S248P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
224 |
240 |
N/A |
INTRINSIC |
|
TPR
|
364 |
397 |
2.66e0 |
SMART |
|
low complexity region
|
436 |
447 |
N/A |
INTRINSIC |
|
TPR
|
481 |
514 |
1.76e-5 |
SMART |
|
TPR
|
515 |
548 |
1.49e-3 |
SMART |
|
TPR
|
549 |
582 |
3.87e-2 |
SMART |
|
low complexity region
|
615 |
626 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112531
AA Change: S218P
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000108150
Gene: ENSMUSG00000005069
AA Change: S218P
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
334 |
367 |
2.66e0 |
SMART |
|
low complexity region
|
406 |
417 |
N/A |
INTRINSIC |
|
TPR
|
451 |
484 |
1.76e-5 |
SMART |
|
TPR
|
485 |
518 |
1.49e-3 |
SMART |
|
TPR
|
519 |
552 |
3.87e-2 |
SMART |
|
low complexity region
|
585 |
596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112532
AA Change: S255P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108151
Gene: ENSMUSG00000005069
AA Change: S255P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
231 |
247 |
N/A |
INTRINSIC |
|
TPR
|
371 |
404 |
2.66e0 |
SMART |
|
low complexity region
|
443 |
454 |
N/A |
INTRINSIC |
|
TPR
|
488 |
521 |
1.76e-5 |
SMART |
|
TPR
|
522 |
555 |
1.49e-3 |
SMART |
|
TPR
|
556 |
589 |
3.87e-2 |
SMART |
|
low complexity region
|
622 |
633 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced size, muscle weakness, respiratory distress, and retarded development and defects of the kidney, liver, brain, and intestine associated with lack of peroxisomes, and die within 3-4 days of birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg2 |
A |
T |
5: 137,665,966 (GRCm39) |
F98I |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,327,006 (GRCm39) |
N668K |
possibly damaging |
Het |
| Aox4 |
G |
A |
1: 58,293,107 (GRCm39) |
V868I |
not run |
Het |
| Ccdc39 |
T |
C |
3: 33,886,766 (GRCm39) |
R281G |
possibly damaging |
Het |
| Ccnt1 |
A |
T |
15: 98,441,797 (GRCm39) |
D490E |
probably benign |
Het |
| Cfhr2 |
T |
A |
1: 139,741,322 (GRCm39) |
I218F |
probably damaging |
Het |
| Clcn4 |
T |
C |
7: 7,296,936 (GRCm39) |
K234R |
probably benign |
Het |
| Col4a2 |
A |
T |
8: 11,479,358 (GRCm39) |
D747V |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,299,190 (GRCm39) |
E3126G |
unknown |
Het |
| Csf1r |
T |
A |
18: 61,243,368 (GRCm39) |
L128Q |
probably damaging |
Het |
| Dcp1b |
G |
T |
6: 119,152,318 (GRCm39) |
R22L |
possibly damaging |
Het |
| Ddx6 |
T |
G |
9: 44,538,960 (GRCm39) |
F256C |
probably damaging |
Het |
| Diras1 |
C |
T |
10: 80,857,895 (GRCm39) |
V119M |
probably damaging |
Het |
| Ect2l |
T |
A |
10: 18,017,712 (GRCm39) |
D681V |
possibly damaging |
Het |
| Eme1 |
G |
T |
11: 94,541,645 (GRCm39) |
P59Q |
probably damaging |
Het |
| Farp1 |
G |
C |
14: 121,495,359 (GRCm39) |
E605Q |
probably damaging |
Het |
| Frem1 |
G |
T |
4: 82,877,614 (GRCm39) |
T1321K |
probably benign |
Het |
| Gcn1 |
T |
A |
5: 115,753,627 (GRCm39) |
L2326Q |
probably damaging |
Het |
| Gpld1 |
T |
A |
13: 25,146,758 (GRCm39) |
V240E |
probably damaging |
Het |
| Gpr4 |
C |
A |
7: 18,956,340 (GRCm39) |
H87Q |
probably damaging |
Het |
| Ifi213 |
A |
T |
1: 173,394,784 (GRCm39) |
S584T |
probably benign |
Het |
| Il36b |
C |
T |
2: 24,048,826 (GRCm39) |
T77M |
possibly damaging |
Het |
| Inf2 |
A |
G |
12: 112,576,118 (GRCm39) |
E865G |
unknown |
Het |
| Klk1b1 |
T |
C |
7: 43,620,669 (GRCm39) |
I253T |
probably damaging |
Het |
| Lcmt1 |
G |
T |
7: 122,969,030 (GRCm39) |
M8I |
unknown |
Het |
| Mrs2 |
T |
A |
13: 25,202,549 (GRCm39) |
D64V |
possibly damaging |
Het |
| Ms4a20 |
A |
G |
19: 11,079,224 (GRCm39) |
I148T |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,589,108 (GRCm39) |
Y755C |
|
Het |
| Ncoa3 |
T |
A |
2: 165,907,688 (GRCm39) |
L1099* |
probably null |
Het |
| Nlrp6 |
T |
C |
7: 140,507,353 (GRCm39) |
V873A |
possibly damaging |
Het |
| Nup155 |
C |
T |
15: 8,145,926 (GRCm39) |
P159L |
possibly damaging |
Het |
| Or10v1 |
A |
T |
19: 11,873,898 (GRCm39) |
H171L |
probably benign |
Het |
| Or1ak2 |
A |
T |
2: 36,827,630 (GRCm39) |
L166F |
probably damaging |
Het |
| Or4m1 |
A |
T |
14: 50,557,573 (GRCm39) |
S240T |
probably damaging |
Het |
| Phip |
T |
G |
9: 82,772,203 (GRCm39) |
M1115L |
probably benign |
Het |
| Ppl |
T |
G |
16: 4,920,166 (GRCm39) |
S410R |
probably benign |
Het |
| Ppp1r17 |
G |
A |
6: 55,999,441 (GRCm39) |
D25N |
probably damaging |
Het |
| Pramel51 |
T |
C |
12: 88,142,769 (GRCm39) |
E478G |
probably damaging |
Het |
| Prox2 |
T |
A |
12: 85,134,815 (GRCm39) |
I489F |
probably damaging |
Het |
| Ptprb |
C |
G |
10: 116,205,333 (GRCm39) |
P1896A |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,154,799 (GRCm39) |
L601P |
possibly damaging |
Het |
| Sash1 |
C |
T |
10: 8,656,328 (GRCm39) |
W221* |
probably null |
Het |
| Skint1 |
A |
C |
4: 111,876,399 (GRCm39) |
T107P |
probably damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,091,905 (GRCm39) |
S453P |
possibly damaging |
Het |
| Sox11 |
A |
T |
12: 27,391,439 (GRCm39) |
N323K |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Thbd |
C |
A |
2: 148,248,894 (GRCm39) |
V325L |
probably damaging |
Het |
| Tmco5 |
T |
C |
2: 116,722,743 (GRCm39) |
F288S |
probably damaging |
Het |
| Traj16 |
T |
C |
14: 54,440,645 (GRCm39) |
Y19H |
unknown |
Het |
| Trip11 |
A |
G |
12: 101,853,233 (GRCm39) |
V454A |
probably benign |
Het |
| Tsg101 |
G |
T |
7: 46,563,183 (GRCm39) |
Q24K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,555,370 (GRCm39) |
E30545G |
probably damaging |
Het |
| Unkl |
T |
C |
17: 25,437,627 (GRCm39) |
S200P |
probably damaging |
Het |
| Vwa2 |
T |
A |
19: 56,897,672 (GRCm39) |
I659N |
probably damaging |
Het |
| Wipf3 |
A |
G |
6: 54,458,896 (GRCm39) |
I84V |
probably benign |
Het |
| Zfp592 |
T |
G |
7: 80,674,469 (GRCm39) |
S478A |
probably benign |
Het |
| Zfp664 |
A |
T |
5: 124,962,839 (GRCm39) |
K78* |
probably null |
Het |
| Zfp738 |
A |
T |
13: 67,821,110 (GRCm39) |
L79* |
probably null |
Het |
| Zfyve28 |
C |
T |
5: 34,382,326 (GRCm39) |
R258Q |
probably damaging |
Het |
|
| Other mutations in Pex5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01980:Pex5
|
APN |
6 |
124,375,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02027:Pex5
|
APN |
6 |
124,375,847 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02041:Pex5
|
APN |
6 |
124,382,240 (GRCm39) |
splice site |
probably benign |
|
|
IGL02128:Pex5
|
APN |
6 |
124,375,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02507:Pex5
|
APN |
6 |
124,390,264 (GRCm39) |
missense |
probably benign |
|
|
IGL02539:Pex5
|
APN |
6 |
124,380,183 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03180:Pex5
|
APN |
6 |
124,390,522 (GRCm39) |
splice site |
probably benign |
|
|
G1Funyon:Pex5
|
UTSW |
6 |
124,382,142 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0143:Pex5
|
UTSW |
6 |
124,375,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0600:Pex5
|
UTSW |
6 |
124,381,596 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0904:Pex5
|
UTSW |
6 |
124,376,896 (GRCm39) |
splice site |
probably benign |
|
|
R1970:Pex5
|
UTSW |
6 |
124,391,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4628:Pex5
|
UTSW |
6 |
124,380,079 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4879:Pex5
|
UTSW |
6 |
124,375,322 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5068:Pex5
|
UTSW |
6 |
124,390,555 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5069:Pex5
|
UTSW |
6 |
124,390,555 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5339:Pex5
|
UTSW |
6 |
124,374,963 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6433:Pex5
|
UTSW |
6 |
124,390,572 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6825:Pex5
|
UTSW |
6 |
124,391,340 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6851:Pex5
|
UTSW |
6 |
124,380,113 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7148:Pex5
|
UTSW |
6 |
124,382,231 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7286:Pex5
|
UTSW |
6 |
124,375,022 (GRCm39) |
nonsense |
probably null |
|
|
R7673:Pex5
|
UTSW |
6 |
124,376,342 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7752:Pex5
|
UTSW |
6 |
124,390,977 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7793:Pex5
|
UTSW |
6 |
124,376,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8301:Pex5
|
UTSW |
6 |
124,382,142 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8964:Pex5
|
UTSW |
6 |
124,375,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Pex5
|
UTSW |
6 |
124,375,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGCAGCAATGCCCATCAC -3'
(R):5'- TAGGATATTGCCATTCCCCAGC -3'
Sequencing Primer
(F):5'- GCAATGCCCATCACCTCGG -3'
(R):5'- ACTCTAGACTGCTGCCAGAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation