Incidental Mutation 'R5223:Pex5l'
ID |
402412 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pex5l
|
Ensembl Gene |
ENSMUSG00000027674 |
Gene Name |
peroxisomal biogenesis factor 5-like |
Synonyms |
PXR2, TRIP8b, Pex2, 1700016J08Rik |
MMRRC Submission |
042796-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.574)
|
Stock # |
R5223 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
33003557-33197396 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 33012945 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 15
(S15T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103856
(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 benign
Transcript: ENSMUST00000078226
AA Change: S286T
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000077353 Gene: ENSMUSG00000027674 AA Change: S286T
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: S15T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103856 Gene: ENSMUSG00000027674 AA Change: S15T
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 benign
Transcript: ENSMUST00000108224
AA Change: S262T
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000103859 Gene: ENSMUSG00000027674 AA Change: S262T
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 benign
Transcript: ENSMUST00000108225
AA Change: S286T
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000103860 Gene: ENSMUSG00000027674 AA Change: S286T
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: S238T
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000103861 Gene: ENSMUSG00000027674 AA Change: S238T
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 benign
Transcript: ENSMUST00000192093
AA Change: S286T
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000141387 Gene: ENSMUSG00000027674 AA Change: S286T
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: ENSMUST00000193289
AA Change: S321T
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000142008 Gene: ENSMUSG00000027674 AA Change: S321T
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 benign
Transcript: ENSMUST00000193681
AA Change: S321T
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000141454 Gene: ENSMUSG00000027674 AA Change: S321T
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 benign
Transcript: ENSMUST00000194016
AA Change: S321T
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000142196 Gene: ENSMUSG00000027674 AA Change: S321T
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: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
C |
T |
11: 119,904,278 (GRCm39) |
V273M |
possibly damaging |
Het |
Acin1 |
CCGC |
CC |
14: 54,880,398 (GRCm39) |
|
probably null |
Het |
Acvr1b |
T |
A |
15: 101,091,857 (GRCm39) |
C46S |
probably damaging |
Het |
Ahi1 |
A |
T |
10: 20,846,818 (GRCm39) |
H416L |
possibly damaging |
Het |
Aspm |
T |
A |
1: 139,406,072 (GRCm39) |
L1653Q |
probably damaging |
Het |
Cacna1a |
G |
A |
8: 85,313,824 (GRCm39) |
V1533M |
possibly damaging |
Het |
Ccdc33 |
C |
T |
9: 57,940,267 (GRCm39) |
E502K |
possibly damaging |
Het |
Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
Cyp2a12 |
A |
T |
7: 26,735,888 (GRCm39) |
|
probably null |
Het |
Dnai4 |
T |
A |
4: 102,906,600 (GRCm39) |
S738C |
possibly damaging |
Het |
Ep400 |
A |
G |
5: 110,816,496 (GRCm39) |
V2675A |
probably damaging |
Het |
Foxh1 |
T |
A |
15: 76,552,929 (GRCm39) |
|
probably null |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Gpnmb |
C |
T |
6: 49,033,139 (GRCm39) |
T539M |
probably benign |
Het |
Hdac1-ps |
A |
G |
17: 78,799,867 (GRCm39) |
E286G |
probably benign |
Het |
Hspa9 |
A |
G |
18: 35,085,724 (GRCm39) |
|
probably null |
Het |
Hspg2 |
T |
C |
4: 137,271,225 (GRCm39) |
L2454P |
probably damaging |
Het |
Ift140 |
T |
A |
17: 25,254,786 (GRCm39) |
I422N |
probably benign |
Het |
Igkv6-32 |
T |
C |
6: 70,051,207 (GRCm39) |
S50G |
probably benign |
Het |
Il23r |
T |
A |
6: 67,463,154 (GRCm39) |
Y113F |
probably benign |
Het |
Kcnt1 |
A |
G |
2: 25,793,434 (GRCm39) |
D636G |
probably benign |
Het |
Klhl41 |
G |
A |
2: 69,510,171 (GRCm39) |
W569* |
probably null |
Het |
Klra4 |
T |
A |
6: 130,039,110 (GRCm39) |
D94V |
probably damaging |
Het |
Lca5 |
T |
A |
9: 83,280,666 (GRCm39) |
H378L |
probably benign |
Het |
Lhx8 |
T |
A |
3: 154,027,281 (GRCm39) |
T254S |
probably damaging |
Het |
Lrch3 |
C |
T |
16: 32,734,767 (GRCm39) |
R86W |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,354,397 (GRCm39) |
N477I |
probably damaging |
Het |
Man2a1 |
T |
A |
17: 65,019,266 (GRCm39) |
I710K |
probably benign |
Het |
Ncor1 |
A |
T |
11: 62,229,826 (GRCm39) |
Y881N |
probably damaging |
Het |
Nhsl1 |
T |
A |
10: 18,402,074 (GRCm39) |
V1100E |
probably damaging |
Het |
Oprk1 |
T |
C |
1: 5,659,519 (GRCm39) |
V83A |
probably benign |
Het |
Or4p8 |
T |
C |
2: 88,727,678 (GRCm39) |
T88A |
probably benign |
Het |
Or5p62 |
A |
G |
7: 107,771,915 (GRCm39) |
V12A |
probably benign |
Het |
Or7g35 |
T |
C |
9: 19,496,322 (GRCm39) |
V163A |
probably benign |
Het |
Pacs1 |
C |
T |
19: 5,195,169 (GRCm39) |
V472I |
probably benign |
Het |
Pard3b |
T |
C |
1: 62,383,272 (GRCm39) |
Y789H |
probably damaging |
Het |
Pcdha2 |
T |
C |
18: 37,073,844 (GRCm39) |
Y492H |
probably damaging |
Het |
Pcnt |
T |
C |
10: 76,216,106 (GRCm39) |
N2261D |
probably damaging |
Het |
Plekhg4 |
A |
G |
8: 106,105,581 (GRCm39) |
N682S |
probably benign |
Het |
Poc5 |
A |
T |
13: 96,539,463 (GRCm39) |
M335L |
probably benign |
Het |
Polr1a |
C |
T |
6: 71,944,891 (GRCm39) |
R1316W |
possibly damaging |
Het |
Pp2d1 |
T |
C |
17: 53,814,873 (GRCm39) |
H617R |
probably benign |
Het |
Pramel24 |
T |
A |
4: 143,454,591 (GRCm39) |
S296R |
probably benign |
Het |
Prpsap1 |
T |
C |
11: 116,378,974 (GRCm39) |
K65E |
probably benign |
Het |
Ptgfrn |
T |
C |
3: 100,952,909 (GRCm39) |
E775G |
probably benign |
Het |
Ptprc |
T |
A |
1: 138,045,600 (GRCm39) |
I87F |
probably benign |
Het |
Rbbp8 |
C |
A |
18: 11,854,747 (GRCm39) |
A324E |
probably benign |
Het |
Rfx6 |
G |
T |
10: 51,554,092 (GRCm39) |
G63* |
probably null |
Het |
Rpl37a |
T |
C |
1: 72,751,308 (GRCm39) |
M47T |
probably benign |
Het |
Samm50 |
T |
G |
15: 84,084,831 (GRCm39) |
N187K |
probably benign |
Het |
Skic2 |
A |
G |
17: 35,064,142 (GRCm39) |
|
probably null |
Het |
Slamf9 |
T |
C |
1: 172,303,799 (GRCm39) |
I48T |
possibly damaging |
Het |
Slc2a12 |
A |
G |
10: 22,577,931 (GRCm39) |
K576E |
probably damaging |
Het |
Slc4a10 |
G |
A |
2: 62,083,710 (GRCm39) |
G388S |
probably damaging |
Het |
Smtn |
G |
T |
11: 3,479,530 (GRCm39) |
N512K |
probably benign |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,455,258 (GRCm39) |
Y3040C |
probably damaging |
Het |
Stat1 |
T |
A |
1: 52,183,401 (GRCm39) |
V389E |
probably damaging |
Het |
Sult5a1 |
A |
T |
8: 123,872,161 (GRCm39) |
M227K |
probably damaging |
Het |
Thsd4 |
T |
C |
9: 59,964,325 (GRCm39) |
D389G |
probably damaging |
Het |
Tnxb |
T |
C |
17: 34,923,052 (GRCm39) |
V2545A |
possibly damaging |
Het |
Tpo |
T |
A |
12: 30,142,589 (GRCm39) |
I712F |
probably damaging |
Het |
Trim62 |
T |
C |
4: 128,803,204 (GRCm39) |
V418A |
probably damaging |
Het |
Uqcrc1 |
C |
A |
9: 108,771,224 (GRCm39) |
H95N |
probably damaging |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Vmn2r66 |
T |
C |
7: 84,657,093 (GRCm39) |
D104G |
probably benign |
Het |
Wdr26 |
T |
C |
1: 181,015,251 (GRCm39) |
I371V |
probably benign |
Het |
Zfp273 |
T |
G |
13: 67,974,298 (GRCm39) |
C475W |
probably damaging |
Het |
Zfp738 |
G |
T |
13: 67,821,182 (GRCm39) |
T55K |
probably damaging |
Het |
Zmym2 |
A |
G |
14: 57,183,971 (GRCm39) |
I978V |
probably benign |
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 |
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 |
|
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'- AGAGCGACCCATTTCCCATC -3'
(R):5'- AAGATTCTCGTGCTGCTGAGC -3'
Sequencing Primer
(F):5'- GAGCGACCCATTTCCCATCAATTAC -3'
(R):5'- TCGTGCTGCTGAGCCTCTG -3'
|
Posted On |
2016-07-22 |