Incidental Mutation 'IGL02997:Pex5l'
ID 407193
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pex5l
Ensembl Gene ENSMUSG00000027674
Gene Name peroxisomal biogenesis factor 5-like
Synonyms PXR2, TRIP8b, Pex2, 1700016J08Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.574) question?
Stock # IGL02997
Quality Score
Status
Chromosome 3
Chromosomal Location 33003557-33197396 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 33009991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078226] [ENSMUST00000108221] [ENSMUST00000108224] [ENSMUST00000108225] [ENSMUST00000108226] [ENSMUST00000193681] [ENSMUST00000192093] [ENSMUST00000194016] [ENSMUST00000193289]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000078226
SMART Domains Protein: ENSMUSP00000077353
Gene: ENSMUSG00000027674

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000108221
SMART Domains Protein: ENSMUSP00000103856
Gene: ENSMUSG00000027674

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000103859
Gene: ENSMUSG00000027674

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000193681
SMART Domains Protein: ENSMUSP00000141454
Gene: ENSMUSG00000027674

DomainStartEndE-ValueType
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: ENSMUST00000192093
SMART Domains Protein: ENSMUSP00000141387
Gene: ENSMUSG00000027674

DomainStartEndE-ValueType
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: ENSMUST00000194016
SMART Domains Protein: ENSMUSP00000142196
Gene: ENSMUSG00000027674

DomainStartEndE-ValueType
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: ENSMUST00000193289
SMART Domains Protein: ENSMUSP00000142008
Gene: ENSMUSG00000027674

DomainStartEndE-ValueType
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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,966,359 (GRCm39) probably benign Het
Adamts15 T C 9: 30,817,353 (GRCm39) probably benign Het
Arsa T C 15: 89,358,241 (GRCm39) D356G probably damaging Het
Cmbl A G 15: 31,585,490 (GRCm39) K113E probably benign Het
Cmklr1 T C 5: 113,752,701 (GRCm39) D100G probably benign Het
Col23a1 T A 11: 51,467,979 (GRCm39) C517S probably damaging Het
Frem1 T A 4: 82,853,205 (GRCm39) L1699F probably damaging Het
Ganab A G 19: 8,892,776 (GRCm39) D900G probably benign Het
Glrp1 T C 1: 88,437,507 (GRCm39) probably benign Het
Gys2 A T 6: 142,395,195 (GRCm39) D423E probably damaging Het
H2-T9 A G 17: 36,438,728 (GRCm39) V221A possibly damaging Het
Hp C A 8: 110,302,418 (GRCm39) V177F probably damaging Het
Isoc1 T C 18: 58,804,516 (GRCm39) probably benign Het
Kif18b A G 11: 102,799,910 (GRCm39) L513P probably damaging Het
Kifc2 T C 15: 76,548,539 (GRCm39) V342A possibly damaging Het
Krt78 A T 15: 101,855,598 (GRCm39) S738T probably benign Het
Lats1 A G 10: 7,578,018 (GRCm39) N381D possibly damaging Het
Masp2 C A 4: 148,687,632 (GRCm39) probably benign Het
Mybpc1 G T 10: 88,362,235 (GRCm39) N982K probably damaging Het
Ncor2 A T 5: 125,196,634 (GRCm39) probably benign Het
Nkg7 T C 7: 43,087,291 (GRCm39) F133L probably damaging Het
Nlrp1a A T 11: 71,014,491 (GRCm39) I253N probably damaging Het
Nlrp4e G T 7: 23,000,799 (GRCm39) Q31H probably benign Het
Or4p22 A C 2: 88,317,732 (GRCm39) I219L probably damaging Het
Orc6 T A 8: 86,032,837 (GRCm39) probably benign Het
Pbrm1 C T 14: 30,783,508 (GRCm39) L542F probably damaging Het
Pcdh10 T C 3: 45,333,797 (GRCm39) I37T probably damaging Het
Prl2b1 A G 13: 27,569,087 (GRCm39) probably benign Het
Rnf168 G A 16: 32,104,239 (GRCm39) E146K probably damaging Het
Rsph6a T G 7: 18,788,764 (GRCm39) L32R probably benign Het
Scaper C T 9: 55,722,783 (GRCm39) R675H probably damaging Het
Sf3a2 G A 10: 80,639,454 (GRCm39) R148H probably damaging Het
Shank2 A G 7: 143,635,610 (GRCm39) N328S probably benign Het
Smurf1 T A 5: 144,834,815 (GRCm39) R153* probably null Het
Sorcs2 C T 5: 36,225,492 (GRCm39) V126M probably damaging Het
Tamalin T C 15: 101,128,899 (GRCm39) S216P probably damaging Het
Trav7d-4 T C 14: 53,007,713 (GRCm39) S69P probably damaging Het
Trh G T 6: 92,220,115 (GRCm39) probably benign Het
Utp20 A G 10: 88,649,896 (GRCm39) V438A probably benign Het
Utp25 T C 1: 192,802,892 (GRCm39) Q275R probably benign Het
Wdfy3 T C 5: 102,042,778 (GRCm39) E1991G probably null Het
Other mutations in Pex5l
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2016-08-02