Incidental Mutation 'R0195:Pex5l'
ID |
23346 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pex5l
|
Ensembl Gene |
ENSMUSG00000027674 |
Gene Name |
peroxisomal biogenesis factor 5-like |
Synonyms |
PXR2, TRIP8b, Pex2, 1700016J08Rik |
MMRRC Submission |
038454-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.604)
|
Stock # |
R0195 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
33003557-33197396 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33047102 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 283
(N283D)
|
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 |
possibly damaging
Transcript: ENSMUST00000078226
AA Change: N248D
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000077353 Gene: ENSMUSG00000027674 AA Change: N248D
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 |
possibly damaging
Transcript: ENSMUST00000108224
AA Change: N224D
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103859 Gene: ENSMUSG00000027674 AA Change: N224D
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 |
possibly damaging
Transcript: ENSMUST00000108225
AA Change: N248D
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103860 Gene: ENSMUSG00000027674 AA Change: N248D
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 benign
Transcript: ENSMUST00000108226
AA Change: N200D
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000103861 Gene: ENSMUSG00000027674 AA Change: N200D
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 |
possibly damaging
Transcript: ENSMUST00000192093
AA Change: N248D
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000141387 Gene: ENSMUSG00000027674 AA Change: N248D
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 |
possibly damaging
Transcript: ENSMUST00000193289
AA Change: N283D
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142008 Gene: ENSMUSG00000027674 AA Change: N283D
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 |
possibly damaging
Transcript: ENSMUST00000193681
AA Change: N283D
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000141454 Gene: ENSMUSG00000027674 AA Change: N283D
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 |
possibly damaging
Transcript: ENSMUST00000194016
AA Change: N283D
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142196 Gene: ENSMUSG00000027674 AA Change: N283D
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 |
0.0638 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.4%
|
Validation Efficiency |
98% (156/160) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acly |
C |
G |
11: 100,403,800 (GRCm39) |
R362P |
possibly damaging |
Het |
Adam24 |
T |
A |
8: 41,134,805 (GRCm39) |
W758R |
probably benign |
Het |
Adam26b |
G |
T |
8: 43,973,307 (GRCm39) |
T565K |
probably damaging |
Het |
Adam7 |
T |
G |
14: 68,765,076 (GRCm39) |
|
probably benign |
Het |
Adamts19 |
A |
G |
18: 59,102,942 (GRCm39) |
|
probably benign |
Het |
Add1 |
A |
G |
5: 34,767,990 (GRCm39) |
|
probably benign |
Het |
Ago1 |
A |
G |
4: 126,357,484 (GRCm39) |
C64R |
probably benign |
Het |
Ankrd12 |
C |
T |
17: 66,356,943 (GRCm39) |
|
probably null |
Het |
Arhgef33 |
A |
G |
17: 80,688,863 (GRCm39) |
K820E |
probably damaging |
Het |
Arl9 |
T |
C |
5: 77,154,341 (GRCm39) |
V8A |
probably damaging |
Het |
Aspm |
T |
C |
1: 139,406,873 (GRCm39) |
L1920P |
probably damaging |
Het |
Atad2 |
A |
G |
15: 57,963,350 (GRCm39) |
|
probably benign |
Het |
Atp2b2 |
A |
T |
6: 113,770,835 (GRCm39) |
V358E |
probably benign |
Het |
C3ar1 |
A |
C |
6: 122,828,114 (GRCm39) |
C34W |
possibly damaging |
Het |
C6 |
G |
A |
15: 4,792,953 (GRCm39) |
V353M |
probably benign |
Het |
Capn7 |
T |
C |
14: 31,087,538 (GRCm39) |
I593T |
probably damaging |
Het |
Casc3 |
T |
A |
11: 98,712,319 (GRCm39) |
D119E |
probably damaging |
Het |
Ccna1 |
T |
A |
3: 54,961,785 (GRCm39) |
E45V |
probably damaging |
Het |
Cdc37 |
A |
G |
9: 21,053,576 (GRCm39) |
V180A |
probably benign |
Het |
Cdh23 |
A |
G |
10: 60,152,838 (GRCm39) |
I2393T |
probably damaging |
Het |
Cnbd1 |
T |
C |
4: 18,906,988 (GRCm39) |
|
probably benign |
Het |
Cngb3 |
A |
T |
4: 19,280,975 (GRCm39) |
M15L |
probably benign |
Het |
Crygn |
A |
G |
5: 24,961,036 (GRCm39) |
M90T |
possibly damaging |
Het |
Cse1l |
T |
A |
2: 166,782,008 (GRCm39) |
S661R |
probably benign |
Het |
D830013O20Rik |
C |
T |
12: 73,411,095 (GRCm39) |
|
noncoding transcript |
Het |
Ddx24 |
C |
T |
12: 103,385,220 (GRCm39) |
|
probably null |
Het |
Dnah3 |
A |
T |
7: 119,676,998 (GRCm39) |
|
probably null |
Het |
Dnah9 |
C |
T |
11: 65,786,731 (GRCm39) |
G3634E |
probably benign |
Het |
Dnttip2 |
A |
T |
3: 122,069,810 (GRCm39) |
T342S |
probably benign |
Het |
Evx2 |
G |
T |
2: 74,489,388 (GRCm39) |
R125S |
probably damaging |
Het |
Fbxl5 |
A |
T |
5: 43,928,140 (GRCm39) |
L40Q |
probably damaging |
Het |
Git1 |
T |
A |
11: 77,391,899 (GRCm39) |
D240E |
probably benign |
Het |
Glp2r |
T |
A |
11: 67,600,534 (GRCm39) |
K438N |
probably damaging |
Het |
Hivep1 |
T |
A |
13: 42,309,629 (GRCm39) |
I623N |
probably benign |
Het |
Il17re |
A |
G |
6: 113,443,098 (GRCm39) |
E312G |
probably damaging |
Het |
Itgb7 |
G |
A |
15: 102,130,618 (GRCm39) |
|
probably benign |
Het |
Itpr3 |
A |
G |
17: 27,333,088 (GRCm39) |
Y1900C |
probably damaging |
Het |
Krt1c |
G |
A |
15: 101,721,626 (GRCm39) |
Q472* |
probably null |
Het |
Krtap5-1 |
A |
C |
7: 141,850,434 (GRCm39) |
C125G |
unknown |
Het |
Macf1 |
A |
G |
4: 123,328,709 (GRCm39) |
S2554P |
probably damaging |
Het |
Marchf10 |
C |
T |
11: 105,276,351 (GRCm39) |
G646R |
probably damaging |
Het |
Mrpl48 |
A |
C |
7: 100,195,560 (GRCm39) |
|
probably benign |
Het |
Myo16 |
A |
T |
8: 10,365,538 (GRCm39) |
|
probably benign |
Het |
Nrcam |
A |
T |
12: 44,631,628 (GRCm39) |
E1060D |
probably benign |
Het |
Nsd3 |
T |
A |
8: 26,170,709 (GRCm39) |
C731S |
probably damaging |
Het |
Nup85 |
T |
G |
11: 115,455,357 (GRCm39) |
M1R |
probably null |
Het |
Nxnl2 |
G |
T |
13: 51,325,483 (GRCm39) |
R42L |
probably damaging |
Het |
Oas3 |
G |
A |
5: 120,894,210 (GRCm39) |
R39C |
probably damaging |
Het |
Or13c25 |
G |
A |
4: 52,910,849 (GRCm39) |
T315M |
probably benign |
Het |
Orc1 |
C |
T |
4: 108,471,505 (GRCm39) |
R786* |
probably null |
Het |
P2ry6 |
A |
T |
7: 100,587,904 (GRCm39) |
W152R |
probably damaging |
Het |
Pgk2 |
T |
C |
17: 40,518,622 (GRCm39) |
I269V |
probably benign |
Het |
Phgdh |
T |
G |
3: 98,223,866 (GRCm39) |
|
probably benign |
Het |
Pzp |
A |
T |
6: 128,464,441 (GRCm39) |
L1362Q |
probably damaging |
Het |
Rbbp9 |
T |
C |
2: 144,390,026 (GRCm39) |
|
probably benign |
Het |
Rffl |
A |
G |
11: 82,700,989 (GRCm39) |
L244P |
probably damaging |
Het |
Serpina11 |
T |
C |
12: 103,952,131 (GRCm39) |
Y213C |
probably damaging |
Het |
Spopfm1 |
A |
G |
3: 94,173,229 (GRCm39) |
Y79C |
possibly damaging |
Het |
Srsf11 |
A |
G |
3: 157,742,172 (GRCm39) |
|
probably benign |
Het |
Sspo |
T |
A |
6: 48,463,570 (GRCm39) |
V3785E |
probably benign |
Het |
Svep1 |
A |
T |
4: 58,089,514 (GRCm39) |
S1632T |
possibly damaging |
Het |
Tm4sf1 |
T |
A |
3: 57,200,480 (GRCm39) |
D74V |
probably damaging |
Het |
Tmprss15 |
T |
A |
16: 78,831,222 (GRCm39) |
T393S |
probably benign |
Het |
Tnfaip3 |
A |
G |
10: 18,881,461 (GRCm39) |
L275P |
probably damaging |
Het |
Trim30c |
A |
G |
7: 104,031,636 (GRCm39) |
V393A |
probably benign |
Het |
Tssk2 |
T |
A |
16: 17,717,439 (GRCm39) |
S281T |
probably benign |
Het |
Tubb4a |
A |
G |
17: 57,388,499 (GRCm39) |
S176P |
probably damaging |
Het |
Unc45b |
T |
A |
11: 82,828,654 (GRCm39) |
M785K |
probably damaging |
Het |
Vldlr |
A |
T |
19: 27,215,786 (GRCm39) |
D261V |
probably damaging |
Het |
Vmn1r176 |
G |
T |
7: 23,535,010 (GRCm39) |
Q48K |
probably benign |
Het |
Vmn2r110 |
A |
T |
17: 20,794,317 (GRCm39) |
L784Q |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,472,045 (GRCm39) |
T783A |
probably benign |
Het |
Zfp800 |
A |
G |
6: 28,243,846 (GRCm39) |
M373T |
probably damaging |
Het |
Zmym1 |
A |
G |
4: 126,941,704 (GRCm39) |
F895L |
possibly 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 |
|
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 |
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'- TGCCACCCTGGATGGGAATCAAAG -3'
(R):5'- TCTCAAGACACGAAGGAAATGGCTC -3'
Sequencing Primer
(F):5'- TGGGAATCAAAGGCTCTCTG -3'
(R):5'- cacacacacacacacacac -3'
|
Posted On |
2013-04-16 |