Incidental Mutation 'R1850:Pex5l'
ID |
207984 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pex5l
|
Ensembl Gene |
ENSMUSG00000027674 |
Gene Name |
peroxisomal biogenesis factor 5-like |
Synonyms |
PXR2, TRIP8b, Pex2, 1700016J08Rik |
MMRRC Submission |
039874-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.574)
|
Stock # |
R1850 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
33003557-33197396 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 33005025 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 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: ENSMUST00000108221
|
SMART Domains |
Protein: ENSMUSP00000103856 Gene: ENSMUSG00000027674
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 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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192259
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
Validation Efficiency |
99% (67/68) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam28 |
T |
A |
14: 68,876,644 (GRCm39) |
Q202L |
probably benign |
Het |
Adgb |
C |
A |
10: 10,318,246 (GRCm39) |
V199F |
probably damaging |
Het |
Aff1 |
G |
T |
5: 103,981,773 (GRCm39) |
R645S |
probably damaging |
Het |
Aoc1 |
C |
T |
6: 48,882,202 (GRCm39) |
S48F |
probably benign |
Het |
Atf6 |
A |
T |
1: 170,646,855 (GRCm39) |
N339K |
probably damaging |
Het |
Bpifb3 |
C |
G |
2: 153,771,264 (GRCm39) |
S392C |
possibly damaging |
Het |
Camk1d |
T |
C |
2: 5,366,826 (GRCm39) |
M130V |
probably benign |
Het |
Ces1a |
T |
A |
8: 93,753,954 (GRCm39) |
N350Y |
probably damaging |
Het |
Cfap57 |
G |
A |
4: 118,457,091 (GRCm39) |
R453C |
probably damaging |
Het |
Chd4 |
T |
A |
6: 125,098,619 (GRCm39) |
N1532K |
probably damaging |
Het |
Chd5 |
T |
C |
4: 152,454,990 (GRCm39) |
L824P |
probably damaging |
Het |
Ckap5 |
G |
A |
2: 91,426,058 (GRCm39) |
R1306H |
probably damaging |
Het |
Crybg1 |
A |
G |
10: 43,873,670 (GRCm39) |
F1146S |
probably damaging |
Het |
Dusp12 |
G |
A |
1: 170,708,198 (GRCm39) |
T173M |
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,001,448 (GRCm39) |
T3854A |
probably benign |
Het |
Echdc1 |
A |
T |
10: 29,220,599 (GRCm39) |
I252F |
probably damaging |
Het |
Emc1 |
A |
T |
4: 139,086,684 (GRCm39) |
|
probably benign |
Het |
Fbn2 |
C |
A |
18: 58,172,377 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,814,933 (GRCm39) |
N3555K |
possibly damaging |
Het |
Gabra1 |
T |
A |
11: 42,070,403 (GRCm39) |
T20S |
probably benign |
Het |
Igf1 |
A |
C |
10: 87,697,236 (GRCm39) |
T2P |
possibly damaging |
Het |
Insyn1 |
A |
T |
9: 58,406,392 (GRCm39) |
M101L |
probably benign |
Het |
Jcad |
C |
A |
18: 4,675,730 (GRCm39) |
T1164N |
possibly damaging |
Het |
Kalrn |
A |
T |
16: 33,796,293 (GRCm39) |
S2830T |
probably damaging |
Het |
Lepr |
C |
A |
4: 101,590,620 (GRCm39) |
A66E |
possibly damaging |
Het |
Lmntd1 |
T |
A |
6: 145,359,206 (GRCm39) |
M315L |
probably benign |
Het |
Lrch3 |
A |
G |
16: 32,807,163 (GRCm39) |
T479A |
probably benign |
Het |
Macroh2a1 |
T |
C |
13: 56,244,052 (GRCm39) |
|
probably benign |
Het |
Matr3 |
A |
G |
18: 35,715,110 (GRCm39) |
N237D |
probably damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Mtif2 |
A |
G |
11: 29,490,683 (GRCm39) |
I462M |
probably benign |
Het |
Nrip1 |
T |
C |
16: 76,090,232 (GRCm39) |
I442V |
probably damaging |
Het |
Or11g25 |
G |
A |
14: 50,723,055 (GRCm39) |
A47T |
probably benign |
Het |
Or6b2b |
T |
A |
1: 92,419,124 (GRCm39) |
M118L |
possibly damaging |
Het |
Or8k35 |
A |
T |
2: 86,424,448 (GRCm39) |
C241* |
probably null |
Het |
Otogl |
T |
A |
10: 107,713,925 (GRCm39) |
Y498F |
probably damaging |
Het |
Pbx3 |
A |
T |
2: 34,066,832 (GRCm39) |
F351I |
probably benign |
Het |
Pcdh18 |
T |
C |
3: 49,710,854 (GRCm39) |
T154A |
probably benign |
Het |
Plec |
T |
C |
15: 76,072,432 (GRCm39) |
I718V |
probably benign |
Het |
Pparg |
T |
A |
6: 115,427,941 (GRCm39) |
Y143N |
probably damaging |
Het |
Prl2c5 |
A |
G |
13: 13,360,377 (GRCm39) |
I12V |
probably benign |
Het |
Rcor3 |
T |
A |
1: 191,804,411 (GRCm39) |
Q246L |
probably benign |
Het |
Rnf214 |
A |
T |
9: 45,780,746 (GRCm39) |
|
probably benign |
Het |
S1pr5 |
A |
T |
9: 21,155,425 (GRCm39) |
S334T |
probably benign |
Het |
Scg3 |
C |
T |
9: 75,589,449 (GRCm39) |
S35N |
possibly damaging |
Het |
Septin5 |
A |
T |
16: 18,443,960 (GRCm39) |
L19Q |
probably damaging |
Het |
Serpinb7 |
T |
C |
1: 107,356,025 (GRCm39) |
F16S |
probably damaging |
Het |
Sipa1l3 |
A |
T |
7: 29,038,551 (GRCm39) |
S365R |
probably damaging |
Het |
Slc27a1 |
T |
C |
8: 72,033,347 (GRCm39) |
|
probably null |
Het |
Slc2a10 |
C |
A |
2: 165,357,133 (GRCm39) |
H264Q |
probably benign |
Het |
Slc9a3 |
A |
G |
13: 74,309,889 (GRCm39) |
I526V |
probably benign |
Het |
Smchd1 |
T |
C |
17: 71,696,766 (GRCm39) |
D1203G |
probably damaging |
Het |
Spata6l |
T |
C |
19: 28,916,571 (GRCm39) |
|
probably null |
Het |
Sult1b1 |
A |
G |
5: 87,668,700 (GRCm39) |
W181R |
probably damaging |
Het |
Supt6 |
A |
G |
11: 78,110,703 (GRCm39) |
|
probably benign |
Het |
Tcf12 |
C |
A |
9: 71,775,497 (GRCm39) |
A418S |
probably damaging |
Het |
Tesk1 |
C |
T |
4: 43,443,576 (GRCm39) |
R48C |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,487,510 (GRCm39) |
Q677R |
probably damaging |
Het |
Tspan8 |
C |
T |
10: 115,669,130 (GRCm39) |
A55V |
probably damaging |
Het |
Txndc11 |
T |
C |
16: 10,906,268 (GRCm39) |
N421D |
probably damaging |
Het |
Vmn1r201 |
A |
G |
13: 22,658,801 (GRCm39) |
N5S |
probably benign |
Het |
Vmn2r120 |
T |
A |
17: 57,832,826 (GRCm39) |
I118L |
probably benign |
Het |
Vps13b |
A |
T |
15: 35,675,105 (GRCm39) |
|
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,042,865 (GRCm39) |
V1962A |
probably damaging |
Het |
Zswim8 |
C |
T |
14: 20,760,815 (GRCm39) |
R107* |
probably null |
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 |
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 |
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 |
|
Posted On |
2014-06-23 |