Incidental Mutation 'R6433:Pex5'
| ID |
518639 |
| 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 |
044571-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6433 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124373775-124392026 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124390572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 91
(M91K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035861]
[ENSMUST00000080557]
[ENSMUST00000112530]
[ENSMUST00000112531]
[ENSMUST00000112532]
|
| AlphaFold |
O09012 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035861
AA Change: M91K
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000049132
Gene: ENSMUSG00000005069
AA Change: M91K
| 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 |
possibly damaging
Transcript: ENSMUST00000080557
AA Change: M91K
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000079398
Gene: ENSMUSG00000005069
AA Change: M91K
| 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 |
possibly damaging
Transcript: ENSMUST00000112530
AA Change: M91K
PolyPhen 2
Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000108149
Gene: ENSMUSG00000005069
AA Change: M91K
| 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 |
possibly damaging
Transcript: ENSMUST00000112531
AA Change: M91K
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108150
Gene: ENSMUSG00000005069
AA Change: M91K
| 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 |
possibly damaging
Transcript: ENSMUST00000112532
AA Change: M91K
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108151
Gene: ENSMUSG00000005069
AA Change: M91K
| 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 |
noncoding transcript
Transcript: ENSMUST00000150899
|
| Meta Mutation Damage Score |
0.6838 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (56/56) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
A |
17: 14,101,561 (GRCm39) |
D1016E |
probably damaging |
Het |
| Aplnr |
A |
T |
2: 84,967,017 (GRCm39) |
Q14L |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,401,421 (GRCm39) |
L1147S |
probably damaging |
Het |
| Atad2b |
A |
G |
12: 5,002,642 (GRCm39) |
T337A |
possibly damaging |
Het |
| Atrn |
A |
G |
2: 130,864,947 (GRCm39) |
E1358G |
probably damaging |
Het |
| Caml |
C |
A |
13: 55,771,062 (GRCm39) |
S53R |
possibly damaging |
Het |
| Cd180 |
T |
G |
13: 102,842,141 (GRCm39) |
S396A |
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,866,325 (GRCm39) |
T344A |
probably damaging |
Het |
| Cyp4a31 |
A |
C |
4: 115,427,466 (GRCm39) |
D224A |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,392,395 (GRCm39) |
T544A |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,479,222 (GRCm39) |
K1528E |
probably damaging |
Het |
| Dnpep |
T |
A |
1: 75,292,022 (GRCm39) |
K199N |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,184,232 (GRCm39) |
|
probably null |
Het |
| Efl1 |
T |
A |
7: 82,323,776 (GRCm39) |
D239E |
probably damaging |
Het |
| Elovl4 |
A |
G |
9: 83,667,231 (GRCm39) |
V42A |
possibly damaging |
Het |
| Exoc3 |
T |
C |
13: 74,337,306 (GRCm39) |
T432A |
possibly damaging |
Het |
| Fam98c |
A |
G |
7: 28,855,553 (GRCm39) |
|
probably null |
Het |
| Fbln2 |
G |
A |
6: 91,210,254 (GRCm39) |
G66D |
probably damaging |
Het |
| Fchsd1 |
G |
A |
18: 38,097,137 (GRCm39) |
T410I |
possibly damaging |
Het |
| Flcn |
T |
C |
11: 59,691,908 (GRCm39) |
D247G |
probably damaging |
Het |
| Galnt16 |
T |
C |
12: 80,622,677 (GRCm39) |
V127A |
probably benign |
Het |
| H2-Ob |
A |
T |
17: 34,462,860 (GRCm39) |
|
probably null |
Het |
| Has2 |
G |
A |
15: 56,531,194 (GRCm39) |
S507F |
possibly damaging |
Het |
| Ido2 |
T |
A |
8: 25,023,939 (GRCm39) |
M300L |
probably damaging |
Het |
| Itga10 |
T |
C |
3: 96,565,357 (GRCm39) |
|
probably null |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Mfsd2a |
A |
G |
4: 122,844,250 (GRCm39) |
V299A |
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,396,217 (GRCm39) |
D210G |
probably damaging |
Het |
| Ndrg1 |
A |
T |
15: 66,805,721 (GRCm39) |
M128K |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,942,384 (GRCm39) |
T5091S |
probably benign |
Het |
| Or2j3 |
A |
G |
17: 38,616,304 (GRCm39) |
L16P |
probably damaging |
Het |
| Phlpp2 |
G |
T |
8: 110,661,317 (GRCm39) |
A810S |
probably benign |
Het |
| Pla2g7 |
G |
C |
17: 43,910,017 (GRCm39) |
A174P |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,192,613 (GRCm39) |
V783M |
probably damaging |
Het |
| Poll |
A |
T |
19: 45,542,043 (GRCm39) |
M421K |
probably benign |
Het |
| Ppfia2 |
C |
A |
10: 106,749,559 (GRCm39) |
S1148R |
possibly damaging |
Het |
| Prkg1 |
A |
G |
19: 30,758,746 (GRCm39) |
F280S |
probably benign |
Het |
| Rdh10 |
G |
A |
1: 16,178,079 (GRCm39) |
C117Y |
probably damaging |
Het |
| Rtl1 |
C |
A |
12: 109,561,630 (GRCm39) |
A70S |
unknown |
Het |
| Scgb2b3 |
A |
T |
7: 31,058,492 (GRCm39) |
L104I |
probably benign |
Het |
| Sh3tc1 |
T |
C |
5: 35,863,941 (GRCm39) |
R749G |
probably damaging |
Het |
| Skint4 |
A |
G |
4: 112,003,707 (GRCm39) |
K380R |
probably benign |
Het |
| Smtnl1 |
A |
C |
2: 84,648,712 (GRCm39) |
S181A |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,864,999 (GRCm39) |
S716P |
probably damaging |
Het |
| Spc25 |
A |
G |
2: 69,036,446 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
C |
T |
10: 86,737,431 (GRCm39) |
|
probably null |
Het |
| Timm22 |
T |
C |
11: 76,300,570 (GRCm39) |
V114A |
possibly damaging |
Het |
| Timp4 |
A |
G |
6: 115,224,181 (GRCm39) |
C163R |
probably damaging |
Het |
| Toporsl |
T |
A |
4: 52,611,548 (GRCm39) |
N480K |
possibly damaging |
Het |
| Tpo |
T |
C |
12: 30,134,753 (GRCm39) |
E735G |
probably benign |
Het |
| Trpm3 |
A |
G |
19: 22,878,669 (GRCm39) |
D692G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,582,058 (GRCm39) |
H22945R |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,454,801 (GRCm39) |
Y499* |
probably null |
Het |
| Vwa1 |
G |
A |
4: 155,857,226 (GRCm39) |
H191Y |
probably benign |
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 |
|
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 |
|
R7752:Pex5
|
UTSW |
6 |
124,380,860 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- TCTCAGACAAGGCCAAATCTG -3'
(R):5'- TCTGTCCAACATCAGTGGGC -3'
Sequencing Primer
(F):5'- AATCTGCCACACCAGGGG -3'
(R):5'- AACATCAGTGGGCCCTGC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation