Incidental Mutation 'R5362:Pex5l'
ID |
422857 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pex5l
|
Ensembl Gene |
ENSMUSG00000027674 |
Gene Name |
peroxisomal biogenesis factor 5-like |
Synonyms |
PXR2, TRIP8b, Pex2, 1700016J08Rik |
MMRRC Submission |
043264-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.574)
|
Stock # |
R5362 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
33003557-33197396 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 33047065 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 295
(A295V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142196
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078226]
[ENSMUST00000108224]
[ENSMUST00000108225]
[ENSMUST00000108226]
[ENSMUST00000192093]
[ENSMUST00000193289]
[ENSMUST00000193681]
[ENSMUST00000194016]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078226
AA Change: A260V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077353 Gene: ENSMUSG00000027674 AA Change: A260V
Domain | Start | End | E-Value | Type |
low complexity region
|
113 |
129 |
N/A |
INTRINSIC |
low complexity region
|
214 |
228 |
N/A |
INTRINSIC |
TPR
|
349 |
382 |
6.95e-4 |
SMART |
Blast:TPR
|
383 |
416 |
4e-14 |
BLAST |
TPR
|
463 |
496 |
3.19e-3 |
SMART |
TPR
|
497 |
530 |
3.47e-4 |
SMART |
TPR
|
531 |
564 |
1.1e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000108219
|
SMART Domains |
Protein: ENSMUSP00000103854 Gene: ENSMUSG00000027674
Domain | Start | End | E-Value | Type |
low complexity region
|
124 |
140 |
N/A |
INTRINSIC |
low complexity region
|
226 |
240 |
N/A |
INTRINSIC |
PDB:4EQF|A
|
266 |
362 |
8e-64 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108224
AA Change: A236V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103859 Gene: ENSMUSG00000027674 AA Change: A236V
Domain | Start | End | E-Value | Type |
low complexity region
|
88 |
104 |
N/A |
INTRINSIC |
low complexity region
|
190 |
204 |
N/A |
INTRINSIC |
TPR
|
325 |
358 |
6.95e-4 |
SMART |
Blast:TPR
|
359 |
392 |
2e-14 |
BLAST |
TPR
|
439 |
472 |
3.19e-3 |
SMART |
TPR
|
473 |
506 |
3.47e-4 |
SMART |
TPR
|
507 |
540 |
1.1e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108225
AA Change: A260V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103860 Gene: ENSMUSG00000027674 AA Change: A260V
Domain | Start | End | E-Value | Type |
low complexity region
|
113 |
129 |
N/A |
INTRINSIC |
low complexity region
|
214 |
228 |
N/A |
INTRINSIC |
TPR
|
349 |
382 |
6.95e-4 |
SMART |
Blast:TPR
|
383 |
416 |
4e-14 |
BLAST |
TPR
|
463 |
496 |
3.19e-3 |
SMART |
TPR
|
497 |
530 |
3.47e-4 |
SMART |
TPR
|
531 |
564 |
1.1e-1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108226
AA Change: A212V
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103861 Gene: ENSMUSG00000027674 AA Change: A212V
Domain | Start | End | E-Value | Type |
low complexity region
|
65 |
81 |
N/A |
INTRINSIC |
low complexity region
|
166 |
180 |
N/A |
INTRINSIC |
TPR
|
301 |
334 |
6.95e-4 |
SMART |
Blast:TPR
|
335 |
368 |
2e-14 |
BLAST |
TPR
|
415 |
448 |
3.19e-3 |
SMART |
TPR
|
449 |
482 |
3.47e-4 |
SMART |
TPR
|
483 |
516 |
1.1e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000192093
AA Change: A260V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141387 Gene: ENSMUSG00000027674 AA Change: A260V
Domain | Start | End | E-Value | Type |
low complexity region
|
113 |
129 |
N/A |
INTRINSIC |
low complexity region
|
214 |
228 |
N/A |
INTRINSIC |
TPR
|
349 |
382 |
6.95e-4 |
SMART |
Blast:TPR
|
383 |
416 |
4e-14 |
BLAST |
TPR
|
463 |
496 |
3.19e-3 |
SMART |
TPR
|
497 |
530 |
3.47e-4 |
SMART |
TPR
|
531 |
564 |
1.1e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193289
AA Change: A295V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142008 Gene: ENSMUSG00000027674 AA Change: A295V
Domain | Start | End | E-Value | Type |
low complexity region
|
148 |
164 |
N/A |
INTRINSIC |
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
TPR
|
384 |
417 |
6.95e-4 |
SMART |
Blast:TPR
|
418 |
451 |
4e-14 |
BLAST |
TPR
|
498 |
531 |
3.19e-3 |
SMART |
TPR
|
532 |
565 |
3.47e-4 |
SMART |
TPR
|
566 |
599 |
1.1e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193681
AA Change: A295V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141454 Gene: ENSMUSG00000027674 AA Change: A295V
Domain | Start | End | E-Value | Type |
low complexity region
|
148 |
164 |
N/A |
INTRINSIC |
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
TPR
|
384 |
417 |
6.95e-4 |
SMART |
Blast:TPR
|
418 |
451 |
4e-14 |
BLAST |
TPR
|
498 |
531 |
3.19e-3 |
SMART |
TPR
|
532 |
565 |
3.47e-4 |
SMART |
TPR
|
566 |
599 |
1.1e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000194016
AA Change: A295V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142196 Gene: ENSMUSG00000027674 AA Change: A295V
Domain | Start | End | E-Value | Type |
low complexity region
|
148 |
164 |
N/A |
INTRINSIC |
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
TPR
|
384 |
417 |
6.95e-4 |
SMART |
Blast:TPR
|
418 |
451 |
4e-14 |
BLAST |
TPR
|
498 |
531 |
3.19e-3 |
SMART |
TPR
|
532 |
565 |
3.47e-4 |
SMART |
TPR
|
566 |
599 |
1.1e-1 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted mutation lacking isoform b exhibit exhibit reduced hyperpolarization-activated current in CA1 pyramidal neuron, impaired motor learning, impaired nest-building, decreased startle reflex, and decreased depression-related behaviors. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5530400C23Rik |
A |
T |
6: 133,271,445 (GRCm39) |
D163V |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ankrd17 |
G |
A |
5: 90,413,404 (GRCm39) |
A1170V |
probably damaging |
Het |
Ano1 |
A |
C |
7: 144,202,337 (GRCm39) |
|
probably benign |
Het |
Atl2 |
T |
C |
17: 80,168,890 (GRCm39) |
N37D |
probably damaging |
Het |
C2cd5 |
T |
C |
6: 143,028,969 (GRCm39) |
Y90C |
probably damaging |
Het |
Carm1 |
A |
G |
9: 21,498,655 (GRCm39) |
N499S |
probably benign |
Het |
Ccdc47 |
G |
A |
11: 106,099,039 (GRCm39) |
|
probably null |
Het |
Cd300lf |
G |
T |
11: 115,007,940 (GRCm39) |
L251M |
probably damaging |
Het |
Cfap74 |
A |
G |
4: 155,522,623 (GRCm39) |
S670G |
probably damaging |
Het |
Clec4a1 |
A |
G |
6: 122,909,196 (GRCm39) |
D188G |
probably damaging |
Het |
Col4a1 |
T |
C |
8: 11,295,760 (GRCm39) |
|
probably benign |
Het |
Csn2 |
T |
A |
5: 87,842,508 (GRCm39) |
H165L |
probably benign |
Het |
Cstdc1 |
G |
T |
2: 148,625,298 (GRCm39) |
L77F |
probably damaging |
Het |
Dlx3 |
T |
C |
11: 95,011,326 (GRCm39) |
V60A |
possibly damaging |
Het |
Elp1 |
A |
C |
4: 56,778,969 (GRCm39) |
I616S |
probably damaging |
Het |
Fam221a |
A |
G |
6: 49,353,049 (GRCm39) |
H21R |
probably damaging |
Het |
Foxj3 |
T |
A |
4: 119,477,340 (GRCm39) |
H349Q |
unknown |
Het |
Gm37240 |
G |
A |
3: 84,423,000 (GRCm39) |
T123I |
probably damaging |
Het |
Gpc1 |
A |
T |
1: 92,782,615 (GRCm39) |
T121S |
probably benign |
Het |
Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
Itga2b |
A |
G |
11: 102,351,961 (GRCm39) |
V512A |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,002,675 (GRCm39) |
Y144C |
probably damaging |
Het |
Izumo3 |
A |
T |
4: 92,035,037 (GRCm39) |
I60K |
possibly damaging |
Het |
Kif9 |
G |
A |
9: 110,319,012 (GRCm39) |
V159M |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,265,914 (GRCm39) |
D229G |
probably damaging |
Het |
Nkpd1 |
G |
A |
7: 19,257,193 (GRCm39) |
G324D |
probably damaging |
Het |
Nrp2 |
T |
A |
1: 62,808,221 (GRCm39) |
Y617N |
probably benign |
Het |
Ocm |
T |
C |
5: 143,960,674 (GRCm39) |
D91G |
probably damaging |
Het |
Or4l15 |
A |
G |
14: 50,197,986 (GRCm39) |
L181P |
possibly damaging |
Het |
Or52ad1 |
A |
G |
7: 102,995,454 (GRCm39) |
V227A |
probably damaging |
Het |
Or52n2b |
A |
G |
7: 104,565,834 (GRCm39) |
I223T |
probably damaging |
Het |
Or6c70 |
T |
C |
10: 129,710,422 (GRCm39) |
E68G |
probably damaging |
Het |
Plekhg4 |
T |
A |
8: 106,108,030 (GRCm39) |
V1029E |
possibly damaging |
Het |
Pou2f2 |
G |
A |
7: 24,792,320 (GRCm39) |
P512S |
probably benign |
Het |
Prpf8 |
G |
A |
11: 75,397,236 (GRCm39) |
R2023Q |
possibly damaging |
Het |
Ptprd |
A |
T |
4: 76,047,050 (GRCm39) |
S399R |
probably damaging |
Het |
Qrich2 |
T |
C |
11: 116,337,976 (GRCm39) |
Y1889C |
probably damaging |
Het |
R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
Ranbp6 |
G |
T |
19: 29,789,128 (GRCm39) |
T408K |
probably benign |
Het |
Scn7a |
G |
A |
2: 66,530,342 (GRCm39) |
R668C |
probably damaging |
Het |
Sertad4 |
T |
C |
1: 192,529,414 (GRCm39) |
N134S |
probably damaging |
Het |
Spg11 |
G |
T |
2: 121,891,481 (GRCm39) |
N1963K |
probably damaging |
Het |
Svil |
C |
T |
18: 5,057,345 (GRCm39) |
P598S |
probably damaging |
Het |
Top2a |
T |
C |
11: 98,909,738 (GRCm39) |
N120S |
probably damaging |
Het |
Trappc9 |
C |
T |
15: 72,930,066 (GRCm39) |
E97K |
possibly damaging |
Het |
Vmn1r91 |
A |
T |
7: 19,835,386 (GRCm39) |
T102S |
probably benign |
Het |
Vmn2r99 |
G |
T |
17: 19,599,601 (GRCm39) |
M428I |
probably benign |
Het |
Zfp62 |
A |
T |
11: 49,107,439 (GRCm39) |
H510L |
probably damaging |
Het |
|
Other mutations in Pex5l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01397:Pex5l
|
APN |
3 |
33,006,746 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01621:Pex5l
|
APN |
3 |
33,069,110 (GRCm39) |
splice site |
probably null |
|
IGL01813:Pex5l
|
APN |
3 |
33,136,204 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02313:Pex5l
|
APN |
3 |
33,047,141 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02508:Pex5l
|
APN |
3 |
33,047,051 (GRCm39) |
splice site |
probably benign |
|
IGL02997:Pex5l
|
APN |
3 |
33,009,991 (GRCm39) |
splice site |
probably benign |
|
R0195:Pex5l
|
UTSW |
3 |
33,047,102 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0674:Pex5l
|
UTSW |
3 |
33,006,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R0729:Pex5l
|
UTSW |
3 |
33,008,685 (GRCm39) |
splice site |
probably benign |
|
R1500:Pex5l
|
UTSW |
3 |
33,069,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R1513:Pex5l
|
UTSW |
3 |
33,069,162 (GRCm39) |
nonsense |
probably null |
|
R1695:Pex5l
|
UTSW |
3 |
33,008,531 (GRCm39) |
missense |
probably benign |
0.28 |
R1850:Pex5l
|
UTSW |
3 |
33,005,025 (GRCm39) |
splice site |
probably null |
|
R2165:Pex5l
|
UTSW |
3 |
33,007,281 (GRCm39) |
splice site |
probably null |
|
R2679:Pex5l
|
UTSW |
3 |
33,136,201 (GRCm39) |
missense |
probably benign |
0.02 |
R2880:Pex5l
|
UTSW |
3 |
33,047,152 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2881:Pex5l
|
UTSW |
3 |
33,047,152 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3766:Pex5l
|
UTSW |
3 |
33,061,327 (GRCm39) |
missense |
probably benign |
0.01 |
R3780:Pex5l
|
UTSW |
3 |
33,004,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R3934:Pex5l
|
UTSW |
3 |
33,061,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R3975:Pex5l
|
UTSW |
3 |
33,069,164 (GRCm39) |
missense |
probably damaging |
0.99 |
R4285:Pex5l
|
UTSW |
3 |
33,061,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R4825:Pex5l
|
UTSW |
3 |
33,047,134 (GRCm39) |
missense |
probably damaging |
0.99 |
R4855:Pex5l
|
UTSW |
3 |
33,196,989 (GRCm39) |
splice site |
probably benign |
|
R4868:Pex5l
|
UTSW |
3 |
33,006,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R5135:Pex5l
|
UTSW |
3 |
33,009,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R5217:Pex5l
|
UTSW |
3 |
33,061,477 (GRCm39) |
splice site |
probably null |
|
R5223:Pex5l
|
UTSW |
3 |
33,012,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R5398:Pex5l
|
UTSW |
3 |
33,006,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R5829:Pex5l
|
UTSW |
3 |
33,060,139 (GRCm39) |
missense |
probably benign |
0.00 |
R6731:Pex5l
|
UTSW |
3 |
33,012,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R7180:Pex5l
|
UTSW |
3 |
33,078,840 (GRCm39) |
splice site |
probably null |
|
R7452:Pex5l
|
UTSW |
3 |
33,058,467 (GRCm39) |
missense |
probably benign |
0.02 |
R7549:Pex5l
|
UTSW |
3 |
33,136,184 (GRCm39) |
missense |
probably benign |
0.04 |
R7563:Pex5l
|
UTSW |
3 |
33,008,625 (GRCm39) |
missense |
probably damaging |
0.98 |
R7757:Pex5l
|
UTSW |
3 |
33,136,300 (GRCm39) |
start gained |
probably benign |
|
R8030:Pex5l
|
UTSW |
3 |
33,008,568 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8143:Pex5l
|
UTSW |
3 |
33,136,658 (GRCm39) |
start gained |
probably benign |
|
R8242:Pex5l
|
UTSW |
3 |
33,060,184 (GRCm39) |
missense |
probably benign |
0.01 |
R8919:Pex5l
|
UTSW |
3 |
33,007,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R9034:Pex5l
|
UTSW |
3 |
33,006,683 (GRCm39) |
missense |
probably damaging |
0.99 |
R9422:Pex5l
|
UTSW |
3 |
33,136,401 (GRCm39) |
start gained |
probably benign |
|
R9585:Pex5l
|
UTSW |
3 |
33,060,091 (GRCm39) |
missense |
probably benign |
|
R9654:Pex5l
|
UTSW |
3 |
33,010,827 (GRCm39) |
missense |
probably benign |
0.08 |
R9711:Pex5l
|
UTSW |
3 |
33,136,204 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Pex5l
|
UTSW |
3 |
33,061,308 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAATCACAGGACCAGTAGAAGAGC -3'
(R):5'- CCTTTGGAACGCTAGGGAAG -3'
Sequencing Primer
(F):5'- GTAGAAGAGCAGACACTTCCTGC -3'
(R):5'- CTTTGGAACGCTAGGGAAGTAACATG -3'
|
Posted On |
2016-08-04 |