Incidental Mutation 'R3780:Pex5l'
| ID |
271995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pex5l
|
| Ensembl Gene |
ENSMUSG00000027674 |
| Gene Name |
peroxisomal biogenesis factor 5-like |
| Synonyms |
PXR2, TRIP8b, Pex2, 1700016J08Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.574)
|
| Stock # |
R3780 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
33003557-33197396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33004993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 593
(L593P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078226]
[ENSMUST00000108221]
[ENSMUST00000108224]
[ENSMUST00000108225]
[ENSMUST00000108226]
[ENSMUST00000192093]
[ENSMUST00000193289]
[ENSMUST00000193681]
[ENSMUST00000194016]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078226
AA Change: L558P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077353
Gene: ENSMUSG00000027674
AA Change: L558P
| 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: ENSMUST00000108221
AA Change: L287P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103856
Gene: ENSMUSG00000027674
AA Change: L287P
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
78 |
111 |
6.95e-4 |
SMART |
|
Blast:TPR
|
112 |
145 |
2e-14 |
BLAST |
|
TPR
|
192 |
225 |
3.19e-3 |
SMART |
|
TPR
|
226 |
259 |
3.47e-4 |
SMART |
|
TPR
|
260 |
293 |
1.1e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108224
AA Change: L534P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103859
Gene: ENSMUSG00000027674
AA Change: L534P
| 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: L558P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103860
Gene: ENSMUSG00000027674
AA Change: L558P
| 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: ENSMUST00000108226
AA Change: L510P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103861
Gene: ENSMUSG00000027674
AA Change: L510P
| 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: L558P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141387
Gene: ENSMUSG00000027674
AA Change: L558P
| 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: L593P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142008
Gene: ENSMUSG00000027674
AA Change: L593P
| 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: L593P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141454
Gene: ENSMUSG00000027674
AA Change: L593P
| 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: L593P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142196
Gene: ENSMUSG00000027674
AA Change: L593P
| 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 |
noncoding transcript
Transcript: ENSMUST00000192259
|
| Meta Mutation Damage Score |
0.9706 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
93% (40/43) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
G |
T |
7: 29,260,263 (GRCm39) |
|
noncoding transcript |
Het |
| Adam21 |
C |
T |
12: 81,606,047 (GRCm39) |
V572I |
probably damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,063,315 (GRCm39) |
|
probably null |
Het |
| Carmil1 |
A |
T |
13: 24,321,152 (GRCm39) |
I281N |
probably damaging |
Het |
| Cdh12 |
T |
A |
15: 21,586,063 (GRCm39) |
|
probably null |
Het |
| Cdh20 |
T |
A |
1: 109,976,734 (GRCm39) |
V133E |
probably benign |
Het |
| Cntrob |
A |
G |
11: 69,193,708 (GRCm39) |
L814P |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,252,000 (GRCm39) |
N952S |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,795,517 (GRCm39) |
Y1084C |
probably damaging |
Het |
| Dlg5 |
A |
G |
14: 24,240,378 (GRCm39) |
|
probably benign |
Het |
| Glis2 |
T |
C |
16: 4,431,760 (GRCm39) |
|
probably benign |
Het |
| Hif3a |
T |
C |
7: 16,788,638 (GRCm39) |
E111G |
probably damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,251 (GRCm39) |
D74G |
probably benign |
Het |
| Kif21b |
A |
T |
1: 136,083,964 (GRCm39) |
K737M |
probably damaging |
Het |
| Ktn1 |
G |
A |
14: 47,943,860 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
A |
T |
10: 27,335,335 (GRCm39) |
N113K |
probably damaging |
Het |
| Ltv1 |
A |
G |
10: 13,054,944 (GRCm39) |
S409P |
probably benign |
Het |
| Mgat4c |
A |
G |
10: 102,224,782 (GRCm39) |
E332G |
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,201,415 (GRCm39) |
F95L |
probably benign |
Het |
| Ndufa4l2 |
A |
G |
10: 127,351,289 (GRCm39) |
I27V |
probably benign |
Het |
| Npepl1 |
T |
G |
2: 173,962,447 (GRCm39) |
L371R |
probably damaging |
Het |
| Nudt9 |
A |
G |
5: 104,194,972 (GRCm39) |
T23A |
probably benign |
Het |
| Ocrl |
G |
A |
X: 47,027,180 (GRCm39) |
V416I |
probably benign |
Het |
| Or2g1 |
T |
G |
17: 38,106,895 (GRCm39) |
C187G |
probably damaging |
Het |
| Padi2 |
C |
T |
4: 140,645,048 (GRCm39) |
T94I |
probably benign |
Het |
| Pcca |
G |
A |
14: 122,922,297 (GRCm39) |
E353K |
probably damaging |
Het |
| Pcdhgb2 |
T |
A |
18: 37,824,810 (GRCm39) |
N600K |
probably damaging |
Het |
| Rbp2 |
G |
A |
9: 98,380,879 (GRCm39) |
D62N |
probably benign |
Het |
| Rock1 |
G |
T |
18: 10,067,575 (GRCm39) |
N1319K |
probably benign |
Het |
| Ror1 |
A |
C |
4: 100,269,314 (GRCm39) |
D384A |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Sacm1l |
A |
T |
9: 123,381,855 (GRCm39) |
E152D |
probably benign |
Het |
| Seh1l |
T |
C |
18: 67,908,087 (GRCm39) |
V3A |
probably benign |
Het |
| Serpinb6d |
T |
A |
13: 33,848,097 (GRCm39) |
D20E |
probably benign |
Het |
| Serpini1 |
T |
G |
3: 75,521,942 (GRCm39) |
N144K |
probably damaging |
Het |
| Slc22a23 |
G |
A |
13: 34,528,323 (GRCm39) |
T153I |
probably benign |
Het |
| Slfn8 |
A |
G |
11: 82,908,280 (GRCm39) |
S88P |
probably benign |
Het |
| Stpg3 |
T |
A |
2: 25,103,875 (GRCm39) |
M154L |
probably benign |
Het |
| Vmn2r115 |
G |
A |
17: 23,564,146 (GRCm39) |
C106Y |
probably damaging |
Het |
| Washc3 |
C |
T |
10: 88,055,122 (GRCm39) |
T112M |
probably benign |
Het |
| Zfp280d |
C |
T |
9: 72,229,806 (GRCm39) |
T346M |
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 |
|
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 |
|
R5362:Pex5l
|
UTSW |
3 |
33,047,065 (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'- AGGATCCAAATTGAAAGCTCTCAG -3'
(R):5'- GTGCGGTGGAAATGTACTGAC -3'
Sequencing Primer
(F):5'- TTGAAAGCTCTCAGGAGGACATC -3'
(R):5'- GGCCCACTATATTTAACAATGGGTGC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation