Incidental Mutation 'R2880:Pex5l'
| ID | 260269 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Pex5l
|
|---|
| Ensembl Gene |
ENSMUSG00000027674 |
|---|
| Gene Name | peroxisomal biogenesis factor 5-like |
|---|
| Synonyms | Pex2, PXR2, TRIP8b, 1700016J08Rik |
|---|
| MMRRC Submission |
040468-MU
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Possibly non essential (E-score: 0.462)
|
|---|
| Stock # | R2880 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Not validated
|
|---|
| Chromosome | 3 |
|---|
| Chromosomal Location | 32949408-33143247 bp(-) (GRCm38) |
|---|
| Type of Mutation | critical splice acceptor site |
|---|
| DNA Base Change (assembly) |
T to A
at 32993003 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142196
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078226]
[ENSMUST00000108224]
[ENSMUST00000108225]
[ENSMUST00000108226]
[ENSMUST00000192093]
[ENSMUST00000193289]
[ENSMUST00000193681]
[ENSMUST00000194016]
|
|---|
| Predicted Effect |
probably null
Transcript: ENSMUST00000078226
|
|---|
| SMART Domains |
Protein: ENSMUSP00000077353
Gene: ENSMUSG00000027674
| 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 null
Transcript: ENSMUST00000108224
|
|---|
| SMART Domains |
Protein: ENSMUSP00000103859
Gene: ENSMUSG00000027674
| 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 null
Transcript: ENSMUST00000108225
|
|---|
| SMART Domains |
Protein: ENSMUSP00000103860
Gene: ENSMUSG00000027674
| 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 null
Transcript: ENSMUST00000108226
|
|---|
| SMART Domains |
Protein: ENSMUSP00000103861
Gene: ENSMUSG00000027674
| 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 null
Transcript: ENSMUST00000192093
|
|---|
| SMART Domains |
Protein: ENSMUSP00000141387
Gene: ENSMUSG00000027674
| 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 null
Transcript: ENSMUST00000193289
|
|---|
| SMART Domains |
Protein: ENSMUSP00000142008
Gene: ENSMUSG00000027674
| 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 null
Transcript: ENSMUST00000193681
|
|---|
| SMART Domains |
Protein: ENSMUSP00000141454
Gene: ENSMUSG00000027674
| 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 null
Transcript: ENSMUST00000194016
|
|---|
| SMART Domains |
Protein: ENSMUSP00000142196
Gene: ENSMUSG00000027674
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
|---|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
C |
T |
10: 89,112,799 |
E150K |
probably damaging |
Het |
| Blnk |
T |
C |
19: 40,962,455 |
Y84C |
probably damaging |
Het |
| Brinp3 |
G |
A |
1: 146,902,002 |
R729H |
probably damaging |
Het |
| Bsn |
C |
T |
9: 108,113,067 |
A1829T |
possibly damaging |
Het |
| Cd300c |
A |
T |
11: 114,959,790 |
N62K |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,352,120 |
D1425G |
probably damaging |
Het |
| Ewsr1 |
C |
A |
11: 5,078,523 |
|
probably benign |
Het |
| Gm4076 |
G |
A |
13: 85,127,238 |
|
noncoding transcript |
Het |
| Gm9637 |
A |
G |
14: 19,401,978 |
|
noncoding transcript |
Het |
| Greb1l |
A |
T |
18: 10,547,288 |
N1502I |
possibly damaging |
Het |
| H13 |
A |
G |
2: 152,695,561 |
M309V |
probably damaging |
Het |
| Lmf2 |
A |
G |
15: 89,351,653 |
S683P |
possibly damaging |
Het |
| Lrit1 |
T |
A |
14: 37,057,437 |
L109Q |
probably damaging |
Het |
| Maml2 |
A |
T |
9: 13,620,597 |
|
probably null |
Het |
| Map3k14 |
C |
A |
11: 103,221,032 |
R941L |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,252,549 |
K262E |
probably damaging |
Het |
| Mtnr1b |
T |
G |
9: 15,862,806 |
Y319S |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,297,264 |
K954R |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,923,025 |
D1486G |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,647,358 |
V2623A |
probably benign |
Het |
| Pak1 |
T |
A |
7: 97,904,811 |
Y463N |
probably damaging |
Het |
| Rasa4 |
T |
C |
5: 136,091,771 |
V87A |
probably damaging |
Het |
| Rnf112 |
G |
A |
11: 61,450,467 |
H431Y |
possibly damaging |
Het |
| Slc25a30 |
A |
G |
14: 75,770,211 |
V118A |
probably benign |
Het |
| Slc4a7 |
T |
A |
14: 14,773,277 |
I872K |
probably damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 123,239,372 |
|
probably null |
Het |
| Sycp1 |
T |
C |
3: 102,818,898 |
E970G |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 33,574,907 |
L1455* |
probably null |
Het |
| Tgfb2 |
T |
A |
1: 186,704,555 |
T74S |
probably damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,963,886 |
C42S |
probably damaging |
Het |
| Zbtb12 |
T |
A |
17: 34,895,479 |
I80N |
probably damaging |
Het |
|
|---|
| Other mutations in Pex5l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01397:Pex5l
|
APN |
3 |
32952597 |
missense |
probably damaging |
1.00 |
|
IGL01621:Pex5l
|
APN |
3 |
33014961 |
splice site |
probably null |
|
|
IGL01813:Pex5l
|
APN |
3 |
33082055 |
missense |
probably benign |
0.02 |
|
IGL02313:Pex5l
|
APN |
3 |
32992992 |
missense |
probably benign |
0.22 |
|
IGL02508:Pex5l
|
APN |
3 |
32992902 |
splice site |
probably benign |
|
|
IGL02997:Pex5l
|
APN |
3 |
32955842 |
splice site |
probably benign |
|
|
R0195:Pex5l
|
UTSW |
3 |
32992953 |
missense |
possibly damaging |
0.87 |
|
R0674:Pex5l
|
UTSW |
3 |
32952616 |
missense |
probably damaging |
1.00 |
|
R0729:Pex5l
|
UTSW |
3 |
32954536 |
splice site |
probably benign |
|
|
R1500:Pex5l
|
UTSW |
3 |
33014980 |
missense |
probably damaging |
1.00 |
|
R1513:Pex5l
|
UTSW |
3 |
33015013 |
nonsense |
probably null |
|
|
R1695:Pex5l
|
UTSW |
3 |
32954382 |
missense |
probably benign |
0.28 |
|
R1850:Pex5l
|
UTSW |
3 |
32950876 |
splice site |
probably null |
|
|
R2165:Pex5l
|
UTSW |
3 |
32953132 |
splice site |
probably null |
|
|
R2679:Pex5l
|
UTSW |
3 |
33082052 |
missense |
probably benign |
0.02 |
|
R2881:Pex5l
|
UTSW |
3 |
32993003 |
critical splice acceptor site |
probably null |
|
|
R3766:Pex5l
|
UTSW |
3 |
33007178 |
missense |
probably benign |
0.01 |
|
R3780:Pex5l
|
UTSW |
3 |
32950844 |
missense |
probably damaging |
1.00 |
|
R3934:Pex5l
|
UTSW |
3 |
33007172 |
missense |
probably damaging |
1.00 |
|
R3975:Pex5l
|
UTSW |
3 |
33015015 |
missense |
probably damaging |
0.99 |
|
R4285:Pex5l
|
UTSW |
3 |
33007187 |
missense |
probably damaging |
1.00 |
|
R4825:Pex5l
|
UTSW |
3 |
32992985 |
missense |
probably damaging |
0.99 |
|
R4855:Pex5l
|
UTSW |
3 |
33142840 |
splice site |
probably benign |
|
|
R4868:Pex5l
|
UTSW |
3 |
32952490 |
missense |
probably damaging |
1.00 |
|
R5135:Pex5l
|
UTSW |
3 |
32955831 |
missense |
probably damaging |
1.00 |
|
R5217:Pex5l
|
UTSW |
3 |
33007328 |
splice site |
probably null |
|
|
R5223:Pex5l
|
UTSW |
3 |
32958796 |
missense |
probably damaging |
1.00 |
|
R5362:Pex5l
|
UTSW |
3 |
32992916 |
missense |
probably damaging |
1.00 |
|
R5398:Pex5l
|
UTSW |
3 |
32952490 |
missense |
probably damaging |
1.00 |
|
R5829:Pex5l
|
UTSW |
3 |
33005990 |
missense |
probably benign |
0.00 |
|
R6731:Pex5l
|
UTSW |
3 |
32958798 |
missense |
probably damaging |
1.00 |
|
R7180:Pex5l
|
UTSW |
3 |
33024691 |
splice site |
probably null |
|
|
R7452:Pex5l
|
UTSW |
3 |
33004318 |
missense |
probably benign |
0.02 |
|
R7549:Pex5l
|
UTSW |
3 |
33082035 |
missense |
probably benign |
0.04 |
|
R7563:Pex5l
|
UTSW |
3 |
32954476 |
missense |
probably damaging |
0.98 |
|
R7757:Pex5l
|
UTSW |
3 |
33082151 |
start gained |
probably benign |
|
|
R8030:Pex5l
|
UTSW |
3 |
32954419 |
missense |
possibly damaging |
0.93 |
|
R8143:Pex5l
|
UTSW |
3 |
33082509 |
start gained |
probably benign |
|
|
R8242:Pex5l
|
UTSW |
3 |
33006035 |
missense |
probably benign |
0.01 |
|
Z1177:Pex5l
|
UTSW |
3 |
33007159 |
missense |
probably damaging |
0.98 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- AACAACGATCGTCATGTTTTCCC -3'
(R):5'- AGGAAATGGCTCAGTGCTTG -3'
Sequencing Primer
(F):5'- GCCTGCAGTTCTGTTTTATGTAC -3'
(R):5'- GATCCTGTCTCAGACACTAGAATGG -3'
|
|---|
| Posted On | 2015-01-23 |
|---|
