Incidental Mutation 'R7180:Pex5l'
ID |
568513 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pex5l
|
Ensembl Gene |
ENSMUSG00000027674 |
Gene Name |
peroxisomal biogenesis factor 5-like |
Synonyms |
PXR2, TRIP8b, Pex2, 1700016J08Rik |
MMRRC Submission |
045233-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.574)
|
Stock # |
R7180 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
33003557-33197396 bp(-) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
C to T
at 33078840 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 benign
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 |
probably benign
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 benign
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 benign
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 benign
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
99% (80/81) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acnat2 |
A |
C |
4: 49,381,803 (GRCm39) |
Y196* |
probably null |
Het |
Agrn |
C |
T |
4: 156,256,296 (GRCm39) |
R1405H |
probably benign |
Het |
Agtpbp1 |
G |
A |
13: 59,613,852 (GRCm39) |
H1030Y |
probably benign |
Het |
Ankrd37 |
C |
T |
8: 46,452,891 (GRCm39) |
|
probably benign |
Het |
Ap1g2 |
G |
C |
14: 55,341,908 (GRCm39) |
P218R |
probably damaging |
Het |
Ap2a1 |
C |
T |
7: 44,573,228 (GRCm39) |
|
probably null |
Het |
Apc2 |
T |
A |
10: 80,146,990 (GRCm39) |
D681E |
possibly damaging |
Het |
Arhgef5 |
T |
A |
6: 43,252,142 (GRCm39) |
N964K |
possibly damaging |
Het |
BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
Ccnf |
T |
A |
17: 24,442,889 (GRCm39) |
M773L |
probably benign |
Het |
Ces1e |
A |
C |
8: 93,941,772 (GRCm39) |
S234A |
probably damaging |
Het |
Ces1g |
T |
A |
8: 94,029,576 (GRCm39) |
E552V |
probably benign |
Het |
Ctcfl |
A |
T |
2: 172,947,770 (GRCm39) |
|
probably null |
Het |
Dkk2 |
T |
A |
3: 131,791,953 (GRCm39) |
S54T |
probably damaging |
Het |
Dll1 |
A |
G |
17: 15,595,131 (GRCm39) |
S49P |
probably benign |
Het |
Dscam |
C |
A |
16: 96,626,764 (GRCm39) |
A382S |
probably damaging |
Het |
Eif4a3l1 |
T |
A |
6: 136,306,535 (GRCm39) |
I332N |
probably damaging |
Het |
Eif5b |
A |
T |
1: 38,088,155 (GRCm39) |
M1020L |
probably damaging |
Het |
Elp1 |
A |
T |
4: 56,796,535 (GRCm39) |
S118R |
probably damaging |
Het |
Enpp4 |
T |
C |
17: 44,412,928 (GRCm39) |
D202G |
probably benign |
Het |
Eps8 |
A |
T |
6: 137,456,072 (GRCm39) |
I803N |
possibly damaging |
Het |
Etv2 |
C |
A |
7: 30,335,074 (GRCm39) |
G28V |
probably damaging |
Het |
Fadd |
A |
T |
7: 144,134,522 (GRCm39) |
V121E |
probably damaging |
Het |
Fam149b |
T |
C |
14: 20,431,853 (GRCm39) |
Y545H |
probably benign |
Het |
Fbxl21 |
A |
T |
13: 56,671,340 (GRCm39) |
M1L |
probably benign |
Het |
Flg2 |
T |
C |
3: 93,110,140 (GRCm39) |
S723P |
unknown |
Het |
Gm4884 |
C |
T |
7: 40,693,633 (GRCm39) |
T534I |
possibly damaging |
Het |
Gpbar1 |
A |
T |
1: 74,317,792 (GRCm39) |
I12F |
possibly damaging |
Het |
Gpr151 |
A |
T |
18: 42,712,021 (GRCm39) |
L219* |
probably null |
Het |
Hdgfl2 |
T |
A |
17: 56,404,532 (GRCm39) |
|
probably null |
Het |
Hectd4 |
A |
G |
5: 121,446,405 (GRCm39) |
M200V |
probably benign |
Het |
Idua |
A |
G |
5: 108,828,761 (GRCm39) |
N335S |
probably benign |
Het |
Ifit1bl1 |
A |
T |
19: 34,571,302 (GRCm39) |
F385Y |
probably damaging |
Het |
Ift172 |
T |
C |
5: 31,411,606 (GRCm39) |
D1624G |
probably damaging |
Het |
Igsf9b |
A |
T |
9: 27,233,964 (GRCm39) |
T388S |
possibly damaging |
Het |
Insyn2b |
A |
G |
11: 34,369,873 (GRCm39) |
K526E |
probably damaging |
Het |
Jak2 |
A |
G |
19: 29,259,811 (GRCm39) |
I237V |
probably benign |
Het |
Kat5 |
C |
A |
19: 5,653,989 (GRCm39) |
K398N |
probably damaging |
Het |
Lmbrd2 |
T |
A |
15: 9,175,283 (GRCm39) |
V398E |
possibly damaging |
Het |
Lrp1 |
T |
C |
10: 127,392,834 (GRCm39) |
N2744D |
probably damaging |
Het |
Lrrd1 |
T |
C |
5: 3,901,459 (GRCm39) |
I588T |
probably damaging |
Het |
Ltn1 |
A |
G |
16: 87,215,382 (GRCm39) |
F418L |
probably damaging |
Het |
Magi1 |
T |
A |
6: 93,792,731 (GRCm39) |
D169V |
probably benign |
Het |
Mpdz |
T |
C |
4: 81,253,988 (GRCm39) |
E1048G |
probably damaging |
Het |
Myh9 |
T |
C |
15: 77,692,110 (GRCm39) |
I150V |
probably benign |
Het |
Nckap1 |
A |
T |
2: 80,337,236 (GRCm39) |
M1006K |
probably benign |
Het |
Nkain1 |
C |
T |
4: 130,533,925 (GRCm38) |
V132I |
probably benign |
Het |
Npy6r |
A |
T |
18: 44,409,223 (GRCm39) |
M215L |
probably benign |
Het |
Nr3c2 |
A |
T |
8: 77,635,592 (GRCm39) |
Q231L |
probably damaging |
Het |
Obox5 |
C |
T |
7: 15,491,849 (GRCm39) |
P88L |
probably benign |
Het |
Or10a48 |
A |
G |
7: 108,425,186 (GRCm39) |
S7P |
probably damaging |
Het |
Or9k7 |
T |
C |
10: 130,046,811 (GRCm39) |
T63A |
probably benign |
Het |
P2rx7 |
A |
G |
5: 122,818,883 (GRCm39) |
D435G |
possibly damaging |
Het |
Pdzd2 |
T |
A |
15: 12,376,209 (GRCm39) |
S1309C |
probably damaging |
Het |
Pip |
T |
A |
6: 41,824,565 (GRCm39) |
C18S |
probably damaging |
Het |
Pla2g7 |
C |
T |
17: 43,909,967 (GRCm39) |
T157M |
probably damaging |
Het |
Plce1 |
A |
G |
19: 38,768,229 (GRCm39) |
Y2168C |
probably damaging |
Het |
Rgs2 |
T |
C |
1: 143,877,886 (GRCm39) |
T137A |
probably benign |
Het |
Rpl32 |
T |
A |
6: 115,784,768 (GRCm39) |
I31F |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,701,864 (GRCm39) |
Y2931C |
probably damaging |
Het |
Slc4a4 |
G |
A |
5: 89,194,095 (GRCm39) |
E192K |
probably damaging |
Het |
Slc4a7 |
G |
A |
14: 14,765,580 (GRCm38) |
A521T |
probably damaging |
Het |
Smchd1 |
T |
C |
17: 71,701,818 (GRCm39) |
E1058G |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Ssc5d |
A |
G |
7: 4,939,600 (GRCm39) |
T679A |
probably benign |
Het |
Tas2r130 |
A |
C |
6: 131,607,211 (GRCm39) |
S195A |
probably benign |
Het |
Tas2r135 |
C |
T |
6: 42,382,685 (GRCm39) |
R75* |
probably null |
Het |
Terf2ip |
G |
T |
8: 112,738,052 (GRCm39) |
|
probably benign |
Het |
Tm6sf2 |
G |
A |
8: 70,528,656 (GRCm39) |
R136K |
probably benign |
Het |
Tmprss15 |
A |
G |
16: 78,764,886 (GRCm39) |
L858P |
probably damaging |
Het |
Topaz1 |
A |
G |
9: 122,626,770 (GRCm39) |
D1466G |
possibly damaging |
Het |
Trip4 |
A |
T |
9: 65,764,627 (GRCm39) |
L446Q |
probably damaging |
Het |
Trpv3 |
G |
T |
11: 73,168,818 (GRCm39) |
V93L |
probably benign |
Het |
Ubl4b |
A |
T |
3: 107,461,962 (GRCm39) |
H99Q |
probably damaging |
Het |
Unc45a |
A |
T |
7: 79,979,569 (GRCm39) |
|
probably null |
Het |
Vmn1r47 |
G |
T |
6: 89,999,335 (GRCm39) |
A156S |
probably damaging |
Het |
Vmn2r33 |
T |
A |
7: 7,566,896 (GRCm39) |
H72L |
probably benign |
Het |
Zeb1 |
G |
A |
18: 5,767,867 (GRCm39) |
V793M |
possibly damaging |
Het |
Zfp628 |
C |
A |
7: 4,924,063 (GRCm39) |
Q762K |
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 |
|
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 |
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'- GTGTGTAGTATGCAAAGTCACAAC -3'
(R):5'- TCACTCATGTCGGATTGCTC -3'
Sequencing Primer
(F):5'- CCATCTACTGGTAAACTGACATATG -3'
(R):5'- GTCGGATTGCTCTTTAAACATTAGCC -3'
|
Posted On |
2019-08-15 |