Incidental Mutation 'R0674:Pex5l'
| ID |
61554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pex5l
|
| Ensembl Gene |
ENSMUSG00000027674 |
| Gene Name |
peroxisomal biogenesis factor 5-like |
| Synonyms |
PXR2, TRIP8b, Pex2, 1700016J08Rik |
| MMRRC Submission |
038859-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.604)
|
| Stock # |
R0674 (G1)
|
| Quality Score |
113 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
33003557-33197396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33006765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 535
(W535R)
|
| 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: W500R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077353
Gene: ENSMUSG00000027674
AA Change: W500R
| 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: W229R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103856
Gene: ENSMUSG00000027674
AA Change: W229R
| 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: W476R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103859
Gene: ENSMUSG00000027674
AA Change: W476R
| 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: W500R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103860
Gene: ENSMUSG00000027674
AA Change: W500R
| 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: W452R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103861
Gene: ENSMUSG00000027674
AA Change: W452R
| 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: W500R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141387
Gene: ENSMUSG00000027674
AA Change: W500R
| 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: W535R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142008
Gene: ENSMUSG00000027674
AA Change: W535R
| 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: W535R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141454
Gene: ENSMUSG00000027674
AA Change: W535R
| 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: W535R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142196
Gene: ENSMUSG00000027674
AA Change: W535R
| 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 |
0.9648 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 90.4%
|
| Validation Efficiency |
97% (124/128) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
A |
G |
3: 89,657,130 (GRCm39) |
|
probably benign |
Het |
| Adgrl2 |
A |
T |
3: 148,543,315 (GRCm39) |
M803K |
possibly damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,067,102 (GRCm39) |
|
probably benign |
Het |
| Atp2a3 |
T |
C |
11: 72,872,711 (GRCm39) |
I753T |
probably damaging |
Het |
| Bace2 |
G |
A |
16: 97,237,949 (GRCm39) |
V467M |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 37,098,775 (GRCm39) |
V1134E |
possibly damaging |
Het |
| Ccser2 |
A |
G |
14: 36,640,548 (GRCm39) |
C11R |
possibly damaging |
Het |
| Cd2ap |
T |
A |
17: 43,156,283 (GRCm39) |
I85F |
possibly damaging |
Het |
| Cd2bp2 |
C |
T |
7: 126,794,008 (GRCm39) |
E94K |
probably damaging |
Het |
| Chrna3 |
C |
A |
9: 54,922,456 (GRCm39) |
A451S |
probably damaging |
Het |
| Cmya5 |
C |
A |
13: 93,229,299 (GRCm39) |
V1930F |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,050,550 (GRCm39) |
T2229A |
probably benign |
Het |
| Csrnp2 |
A |
T |
15: 100,385,872 (GRCm39) |
L122H |
probably damaging |
Het |
| Cyp11b2 |
G |
A |
15: 74,727,393 (GRCm39) |
P96L |
probably damaging |
Het |
| Ddr1 |
G |
T |
17: 36,000,561 (GRCm39) |
S368* |
probably null |
Het |
| E2f1 |
T |
C |
2: 154,406,029 (GRCm39) |
K115E |
probably damaging |
Het |
| Erlec1 |
A |
T |
11: 30,885,073 (GRCm39) |
|
probably benign |
Het |
| Fus |
T |
A |
7: 127,571,948 (GRCm39) |
|
probably benign |
Het |
| Gml |
G |
A |
15: 74,685,709 (GRCm39) |
T92I |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,408,474 (GRCm39) |
S4567P |
probably damaging |
Het |
| Iglc2 |
A |
G |
16: 19,017,591 (GRCm39) |
S5P |
probably benign |
Het |
| Itgam |
T |
C |
7: 127,715,390 (GRCm39) |
V1028A |
possibly damaging |
Het |
| Krt222 |
T |
A |
11: 99,127,086 (GRCm39) |
N178I |
probably benign |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Luzp1 |
C |
T |
4: 136,270,768 (GRCm39) |
T997I |
possibly damaging |
Het |
| Maml1 |
G |
T |
11: 50,148,885 (GRCm39) |
Q952K |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,452,361 (GRCm39) |
E499G |
probably damaging |
Het |
| Map4k4 |
A |
T |
1: 40,042,975 (GRCm39) |
H118L |
probably damaging |
Het |
| Myzap |
T |
C |
9: 71,422,426 (GRCm39) |
D382G |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,359,707 (GRCm39) |
T510A |
probably benign |
Het |
| Nek6 |
G |
C |
2: 38,448,916 (GRCm39) |
G95R |
possibly damaging |
Het |
| Nphp3 |
T |
C |
9: 103,913,481 (GRCm39) |
|
probably null |
Het |
| Nr1d2 |
T |
C |
14: 18,215,086 (GRCm38) |
S309G |
probably benign |
Het |
| Nrcam |
A |
T |
12: 44,611,105 (GRCm39) |
I570F |
probably benign |
Het |
| Oas1d |
T |
C |
5: 121,058,049 (GRCm39) |
I331T |
probably benign |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or4f14 |
A |
T |
2: 111,743,018 (GRCm39) |
F86I |
probably benign |
Het |
| Or51b6 |
T |
C |
7: 103,556,462 (GRCm39) |
V272A |
probably benign |
Het |
| Pisd |
C |
T |
5: 32,931,781 (GRCm39) |
R202H |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,331,783 (GRCm39) |
N403S |
probably benign |
Het |
| Prdm12 |
A |
G |
2: 31,533,924 (GRCm39) |
I180M |
probably benign |
Het |
| Prpf6 |
A |
G |
2: 181,273,767 (GRCm39) |
T304A |
probably benign |
Het |
| Ptprm |
G |
A |
17: 67,498,336 (GRCm39) |
T35I |
possibly damaging |
Het |
| Ptx3 |
T |
A |
3: 66,132,148 (GRCm39) |
I223N |
probably damaging |
Het |
| Pygb |
G |
A |
2: 150,657,054 (GRCm39) |
|
probably null |
Het |
| Qrsl1 |
A |
G |
10: 43,771,997 (GRCm39) |
|
probably benign |
Het |
| Rad51ap2 |
T |
C |
12: 11,508,818 (GRCm39) |
|
probably null |
Het |
| Ralbp1 |
C |
T |
17: 66,159,748 (GRCm39) |
R505H |
probably benign |
Het |
| Rimbp3 |
T |
C |
16: 17,030,601 (GRCm39) |
S1342P |
probably benign |
Het |
| Slc22a14 |
C |
A |
9: 119,007,608 (GRCm39) |
R267L |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,032,498 (GRCm39) |
|
probably benign |
Het |
| Tcp1 |
T |
C |
17: 13,142,131 (GRCm39) |
I375T |
probably damaging |
Het |
| Tiparp |
T |
C |
3: 65,460,586 (GRCm39) |
I525T |
probably benign |
Het |
| Tjp2 |
A |
G |
19: 24,108,680 (GRCm39) |
L144P |
probably benign |
Het |
| Tssk2 |
A |
G |
16: 17,716,930 (GRCm39) |
D111G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,775,823 (GRCm39) |
T1740A |
possibly damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,898,129 (GRCm39) |
D381E |
probably benign |
Het |
| Vsig10 |
C |
T |
5: 117,481,911 (GRCm39) |
T367M |
probably damaging |
Het |
| Wnt11 |
T |
C |
7: 98,495,735 (GRCm39) |
C80R |
probably damaging |
Het |
| Zar1 |
T |
A |
5: 72,737,643 (GRCm39) |
|
probably null |
Het |
| Zfp52 |
A |
T |
17: 21,782,108 (GRCm39) |
H652L |
probably damaging |
Het |
| Zpr1 |
T |
A |
9: 46,186,747 (GRCm39) |
L194Q |
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 |
|
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 |
|
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'- CAGCAGTTTTACCAGGTCCCCATC -3'
(R):5'- GCCACTAGCGAGTTCAAGTAGACAC -3'
Sequencing Primer
(F):5'- ATGCTGAGTCTCCGTGCATC -3'
(R):5'- AATGACCACTGCCCTTTGAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation