Incidental Mutation 'R2165:Pex5l'
ID 266084
Institutional Source Beutler Lab
Gene Symbol Pex5l
Ensembl Gene ENSMUSG00000027674
Gene Name peroxisomal biogenesis factor 5-like
Synonyms PXR2, TRIP8b, Pex2, 1700016J08Rik
MMRRC Submission 040168-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.574) question?
Stock # R2165 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 33003557-33197396 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 33007281 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] [ENSMUST00000192093] [ENSMUST00000193289] [ENSMUST00000194016] [ENSMUST00000193681]
AlphaFold no structure available at present
Predicted Effect probably null
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 null
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 null
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 null
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 null
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 null
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 noncoding transcript
Transcript: ENSMUST00000192259
Predicted Effect probably null
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 probably null
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 null
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 99% (71/72)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,906,048 (GRCm39) T806A possibly damaging Het
Adgre1 T G 17: 57,726,338 (GRCm39) L403R probably damaging Het
Alox12 A T 11: 70,133,398 (GRCm39) probably null Het
Ankib1 A T 5: 3,763,210 (GRCm39) D506E possibly damaging Het
Ascc3 T G 10: 50,597,935 (GRCm39) Y1268D probably damaging Het
Bik A G 15: 83,425,624 (GRCm39) M42V probably benign Het
Bola1 A T 3: 96,104,517 (GRCm39) S26T probably benign Het
Bub1 T C 2: 127,643,201 (GRCm39) I1048V probably benign Het
Cad A G 5: 31,219,564 (GRCm39) N621S probably damaging Het
Camkv C A 9: 107,822,799 (GRCm39) N69K possibly damaging Het
Ccdc110 T C 8: 46,395,876 (GRCm39) M589T probably benign Het
Ccdc154 T A 17: 25,389,864 (GRCm39) V498E probably damaging Het
Ccr1l1 A G 9: 123,777,691 (GRCm39) L252P probably damaging Het
Cdh1 T C 8: 107,390,953 (GRCm39) C690R probably damaging Het
Cfap157 T G 2: 32,668,175 (GRCm39) probably null Het
Cux2 A G 5: 122,025,540 (GRCm39) S43P possibly damaging Het
Cyb5rl C T 4: 106,925,880 (GRCm39) P21S probably damaging Het
Cyp51 T G 5: 4,136,594 (GRCm39) Q400P probably damaging Het
Dnah7b T C 1: 46,137,152 (GRCm39) probably benign Het
Efcab3 G A 11: 104,642,688 (GRCm39) V1104I possibly damaging Het
Ephb4 A G 5: 137,352,688 (GRCm39) I90M probably benign Het
Fam13c A G 10: 70,378,523 (GRCm39) N269S probably damaging Het
Fam83c T A 2: 155,673,444 (GRCm39) Y248F possibly damaging Het
Fat2 A G 11: 55,194,542 (GRCm39) F1166L probably benign Het
Fem1a A G 17: 56,564,686 (GRCm39) N260D probably benign Het
Fnbp4 T A 2: 90,597,743 (GRCm39) probably null Het
Fut9 T A 4: 25,619,733 (GRCm39) *360Y probably null Het
Fut9 T A 4: 25,619,734 (GRCm39) *360L probably null Het
Gm3727 T A 14: 7,264,625 (GRCm38) Q10L probably damaging Het
Gpat2 G A 2: 127,270,211 (GRCm39) V75M probably damaging Het
Haspin A C 11: 73,027,456 (GRCm39) N544K probably damaging Het
Havcr1 A G 11: 46,669,379 (GRCm39) N286S probably benign Het
Lrp6 A C 6: 134,436,246 (GRCm39) C1307G probably damaging Het
Lrrc2 A C 9: 110,808,645 (GRCm39) H294P possibly damaging Het
Mettl25b A T 3: 87,834,360 (GRCm39) probably null Het
Mon2 A C 10: 122,878,269 (GRCm39) probably null Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mrgprb1 T C 7: 48,097,070 (GRCm39) I281V probably benign Het
Muc4 A G 16: 32,569,294 (GRCm39) E118G probably damaging Het
Nefh T C 11: 4,893,872 (GRCm39) D394G probably damaging Het
Neurl4 A G 11: 69,794,047 (GRCm39) T168A probably benign Het
Or10s1 A G 9: 39,986,211 (GRCm39) N207D possibly damaging Het
Or1j18 T A 2: 36,624,713 (GRCm39) C127S probably damaging Het
Or51a10 T C 7: 103,698,845 (GRCm39) T239A probably benign Het
Or5ak4 A T 2: 85,161,446 (GRCm39) N265K probably benign Het
Oxsr1 A C 9: 119,123,498 (GRCm39) M92R probably damaging Het
Pde8a T C 7: 80,945,516 (GRCm39) probably null Het
Pik3r4 T A 9: 105,549,984 (GRCm39) M1025K probably benign Het
Plch1 C T 3: 63,605,903 (GRCm39) E1325K probably benign Het
Plin2 A T 4: 86,586,669 (GRCm39) V54E probably damaging Het
Prss47 A T 13: 65,192,887 (GRCm39) I298N probably damaging Het
Prune2 A G 19: 17,097,546 (GRCm39) R1017G probably benign Het
Psg19 T A 7: 18,530,911 (GRCm39) Y81F possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Serpinb1a T C 13: 33,034,397 (GRCm39) probably benign Het
Sh3pxd2a A T 19: 47,266,794 (GRCm39) V265E probably damaging Het
Slc22a17 A T 14: 55,146,282 (GRCm39) Y337* probably null Het
Slc25a27 A G 17: 43,968,663 (GRCm39) V138A probably benign Het
Slc4a2 A G 5: 24,636,314 (GRCm39) Y220C probably damaging Het
Slc66a3 G A 12: 17,039,840 (GRCm39) L192F probably damaging Het
Stab1 A T 14: 30,890,392 (GRCm39) S20T probably benign Het
Tcstv2a A T 13: 120,725,633 (GRCm39) Q99L probably damaging Het
Thsd1 G T 8: 22,728,538 (GRCm39) probably benign Het
Tmem204 G A 17: 25,299,566 (GRCm39) probably benign Het
Tom1l1 A G 11: 90,540,721 (GRCm39) probably benign Het
Toporsl T A 4: 52,612,072 (GRCm39) F655Y possibly damaging Het
Vmn2r98 A G 17: 19,301,553 (GRCm39) K852E unknown Het
Wdpcp T G 11: 21,641,884 (GRCm39) L174R probably damaging Het
Zbbx G A 3: 75,019,414 (GRCm39) P99S probably damaging Het
Zfhx4 C T 3: 5,468,418 (GRCm39) P2859S probably benign Het
Zfp600 A T 4: 146,133,488 (GRCm39) R719* probably null Het
Zfp697 C A 3: 98,335,330 (GRCm39) A365E unknown Het
Zfp957 A C 14: 79,451,053 (GRCm39) S249A probably benign 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
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
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
Posted On 2015-02-05