Incidental Mutation 'R3975:Pex5l'
| ID |
312574 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pex5l
|
| Ensembl Gene |
ENSMUSG00000027674 |
| Gene Name |
peroxisomal biogenesis factor 5-like |
| Synonyms |
PXR2, TRIP8b, Pex2, 1700016J08Rik |
| MMRRC Submission |
040939-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.574)
|
| Stock # |
R3975 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
33003557-33197396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 33069164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 111
(C111F)
|
| 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: C76F
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077353
Gene: ENSMUSG00000027674
AA Change: C76F
| 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: C51F
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103859
Gene: ENSMUSG00000027674
AA Change: C51F
| 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: C76F
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103860
Gene: ENSMUSG00000027674
AA Change: C76F
| 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: C28F
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103861
Gene: ENSMUSG00000027674
AA Change: C28F
| 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 |
noncoding transcript
Transcript: ENSMUST00000122716
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192093
AA Change: C76F
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141387
Gene: ENSMUSG00000027674
AA Change: C76F
| 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: C111F
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142008
Gene: ENSMUSG00000027674
AA Change: C111F
| 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: C111F
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141454
Gene: ENSMUSG00000027674
AA Change: C111F
| 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: C111F
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142196
Gene: ENSMUSG00000027674
AA Change: C111F
| 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 |
|
| Meta Mutation Damage Score |
0.2626 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
95% (59/62) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
T |
A |
1: 63,586,888 (GRCm39) |
Y416* |
probably null |
Het |
| Akr1b10 |
G |
T |
6: 34,369,431 (GRCm39) |
|
probably null |
Het |
| Arap2 |
G |
T |
5: 62,906,237 (GRCm39) |
P261T |
possibly damaging |
Het |
| Bckdha |
C |
A |
7: 25,330,858 (GRCm39) |
D53Y |
probably damaging |
Het |
| Bfsp2 |
A |
G |
9: 103,357,271 (GRCm39) |
V52A |
probably benign |
Het |
| Bola3 |
T |
C |
6: 83,328,249 (GRCm39) |
L45P |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,255,134 (GRCm39) |
|
probably null |
Het |
| Ccn6 |
C |
G |
10: 39,031,094 (GRCm39) |
C143S |
probably damaging |
Het |
| Ceacam16 |
C |
A |
7: 19,587,537 (GRCm39) |
Q410H |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,940,986 (GRCm39) |
|
probably null |
Het |
| Cenpe |
T |
C |
3: 134,944,233 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
A |
T |
3: 144,738,400 (GRCm39) |
V36D |
probably damaging |
Het |
| Copa |
T |
A |
1: 171,948,812 (GRCm39) |
S1155T |
probably benign |
Het |
| Crb2 |
C |
A |
2: 37,683,680 (GRCm39) |
P1061T |
possibly damaging |
Het |
| Crot |
T |
C |
5: 9,027,541 (GRCm39) |
T264A |
probably benign |
Het |
| Cyp51 |
C |
T |
5: 4,141,877 (GRCm39) |
G346S |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,098,975 (GRCm39) |
S2027P |
possibly damaging |
Het |
| Fbh1 |
T |
C |
2: 11,772,021 (GRCm39) |
H220R |
possibly damaging |
Het |
| Gdf2 |
T |
A |
14: 33,666,791 (GRCm39) |
V171D |
probably damaging |
Het |
| Golgb1 |
T |
G |
16: 36,738,933 (GRCm39) |
V2424G |
probably damaging |
Het |
| Gpbp1l1 |
T |
C |
4: 116,428,182 (GRCm39) |
|
probably null |
Het |
| Gpx6 |
C |
A |
13: 21,501,828 (GRCm39) |
S150Y |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,522,247 (GRCm39) |
N672S |
possibly damaging |
Het |
| Kcnma1 |
C |
T |
14: 24,053,815 (GRCm39) |
|
probably null |
Het |
| Lrba |
T |
C |
3: 86,258,562 (GRCm39) |
F1350L |
probably damaging |
Het |
| Nat8f4 |
A |
G |
6: 85,878,052 (GRCm39) |
V157A |
possibly damaging |
Het |
| Niban1 |
T |
C |
1: 151,525,086 (GRCm39) |
Y164H |
probably damaging |
Het |
| Nt5dc2 |
T |
C |
14: 30,860,832 (GRCm39) |
S439P |
probably damaging |
Het |
| Or2ag12 |
T |
C |
7: 106,276,992 (GRCm39) |
R234G |
probably damaging |
Het |
| Or2n1 |
A |
G |
17: 38,486,386 (GRCm39) |
N137S |
probably benign |
Het |
| Or5t18 |
G |
A |
2: 86,636,804 (GRCm39) |
P180S |
possibly damaging |
Het |
| Or8k40 |
T |
A |
2: 86,584,887 (GRCm39) |
H65L |
probably damaging |
Het |
| Orm3 |
A |
T |
4: 63,274,395 (GRCm39) |
|
probably null |
Het |
| Otof |
A |
G |
5: 30,528,056 (GRCm39) |
L1929P |
probably damaging |
Het |
| Plcl1 |
T |
A |
1: 55,737,374 (GRCm39) |
M905K |
probably benign |
Het |
| Prdm6 |
T |
C |
18: 53,673,278 (GRCm39) |
I186T |
possibly damaging |
Het |
| Rara |
T |
G |
11: 98,861,395 (GRCm39) |
I236S |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,200,364 (GRCm39) |
S1379T |
possibly damaging |
Het |
| Rnps1-ps |
A |
T |
6: 7,983,149 (GRCm39) |
|
noncoding transcript |
Het |
| Rp1l1 |
T |
A |
14: 64,267,758 (GRCm39) |
Y1115N |
probably damaging |
Het |
| Rpe65 |
A |
T |
3: 159,310,222 (GRCm39) |
N135I |
probably damaging |
Het |
| Rps6 |
A |
G |
4: 86,775,050 (GRCm39) |
V18A |
probably benign |
Het |
| Scrn3 |
T |
C |
2: 73,166,121 (GRCm39) |
S385P |
possibly damaging |
Het |
| Sis |
T |
C |
3: 72,850,968 (GRCm39) |
T577A |
probably damaging |
Het |
| Slx1b |
G |
A |
7: 126,290,979 (GRCm39) |
L239F |
probably damaging |
Het |
| Smad4 |
G |
T |
18: 73,810,807 (GRCm39) |
T59K |
possibly damaging |
Het |
| Smad6 |
A |
G |
9: 63,928,212 (GRCm39) |
V32A |
probably benign |
Het |
| Smc6 |
T |
A |
12: 11,324,075 (GRCm39) |
F73L |
probably damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,225,747 (GRCm39) |
|
probably null |
Het |
| Svbp |
T |
A |
4: 119,053,090 (GRCm39) |
F32I |
probably benign |
Het |
| Tap1 |
C |
A |
17: 34,408,541 (GRCm39) |
|
probably benign |
Het |
| Tesk1 |
C |
T |
4: 43,445,786 (GRCm39) |
P280S |
possibly damaging |
Het |
| Thrb |
A |
G |
14: 18,033,456 (GRCm38) |
I406M |
probably damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,656,049 (GRCm39) |
S761P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,706,997 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
C |
A |
17: 31,203,763 (GRCm39) |
Y525* |
probably null |
Het |
| Vmn2r70 |
C |
T |
7: 85,208,540 (GRCm39) |
V646I |
probably benign |
Het |
| Wipf1 |
C |
T |
2: 73,267,513 (GRCm39) |
G295D |
probably benign |
Het |
| Zim1 |
A |
T |
7: 6,680,129 (GRCm39) |
H511Q |
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 |
|
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'- CTTGGTTACAGACACTATCCCC -3'
(R):5'- CAGTGCTGAAGGCTCATTCC -3'
Sequencing Primer
(F):5'- AACCTGAGTTCAATTGCTGCGAC -3'
(R):5'- AAGGCTCATTCCTTCCCCATGG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation