Incidental Mutation 'R1500:Pex5l'
ID 169161
Institutional Source Beutler Lab
Gene Symbol Pex5l
Ensembl Gene ENSMUSG00000027674
Gene Name peroxisomal biogenesis factor 5-like
Synonyms PXR2, TRIP8b, Pex2, 1700016J08Rik
MMRRC Submission 039551-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.574) question?
Stock # R1500 (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 33069129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 123 (T123A)
Ref Sequence ENSEMBL: ENSMUSP00000142196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078226] [ENSMUST00000108224] [ENSMUST00000108225] [ENSMUST00000108226] [ENSMUST00000192093] [ENSMUST00000194016] [ENSMUST00000193289] [ENSMUST00000193681]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000078226
AA Change: T88A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077353
Gene: ENSMUSG00000027674
AA Change: T88A

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 damaging
Transcript: ENSMUST00000108224
AA Change: T63A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103859
Gene: ENSMUSG00000027674
AA Change: T63A

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 damaging
Transcript: ENSMUST00000108225
AA Change: T88A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103860
Gene: ENSMUSG00000027674
AA Change: T88A

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 damaging
Transcript: ENSMUST00000108226
AA Change: T40A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103861
Gene: ENSMUSG00000027674
AA Change: T40A

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 noncoding transcript
Transcript: ENSMUST00000122716
Predicted Effect probably damaging
Transcript: ENSMUST00000192093
AA Change: T88A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141387
Gene: ENSMUSG00000027674
AA Change: T88A

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 damaging
Transcript: ENSMUST00000194016
AA Change: T123A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142196
Gene: ENSMUSG00000027674
AA Change: T123A

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 damaging
Transcript: ENSMUST00000193289
AA Change: T123A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142008
Gene: ENSMUSG00000027674
AA Change: T123A

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 damaging
Transcript: ENSMUST00000193681
AA Change: T123A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141454
Gene: ENSMUSG00000027674
AA Change: T123A

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
Meta Mutation Damage Score 0.2717 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.1%
Validation Efficiency 95% (81/85)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 A G 17: 31,330,253 (GRCm39) D518G probably benign Het
Acaca T A 11: 84,184,810 (GRCm39) D96E probably benign Het
Actbl2 G A 13: 111,391,854 (GRCm39) R63Q probably damaging Het
Adamts6 T A 13: 104,449,389 (GRCm39) H266Q probably damaging Het
Aff4 T C 11: 53,263,205 (GRCm39) V75A probably benign Het
Ank2 A G 3: 126,726,631 (GRCm39) S888P probably benign Het
Ano7 T C 1: 93,325,050 (GRCm39) F534S probably damaging Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Bcam T A 7: 19,492,889 (GRCm39) D484V possibly damaging Het
Bltp2 C A 11: 78,174,958 (GRCm39) Q1698K possibly damaging Het
Ccdc88a T C 11: 29,432,713 (GRCm39) Y1240H probably benign Het
Cfh T C 1: 140,028,614 (GRCm39) Y500C probably damaging Het
Chd1l G A 3: 97,490,121 (GRCm39) A478V probably benign Het
Dnah1 T C 14: 31,038,715 (GRCm39) D122G probably benign Het
Dnah11 A T 12: 117,976,564 (GRCm39) probably null Het
Dnah17 T C 11: 117,991,879 (GRCm39) K1230E probably benign Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
E330020D12Rik A T 1: 153,284,125 (GRCm39) noncoding transcript Het
Ece2 T C 16: 20,462,992 (GRCm39) L639P probably damaging Het
Epha3 A T 16: 63,416,025 (GRCm39) V658E probably benign Het
Erbb2 C T 11: 98,319,804 (GRCm39) T632I probably damaging Het
Erc2 A G 14: 27,993,617 (GRCm39) T883A probably damaging Het
Extl2 T C 3: 115,820,789 (GRCm39) V198A probably benign Het
Fktn G T 4: 53,735,065 (GRCm39) M234I probably benign Het
Ggt7 A G 2: 155,340,966 (GRCm39) S400P probably benign Het
Gldc A C 19: 30,091,225 (GRCm39) V790G possibly damaging Het
Gm14496 A C 2: 181,633,026 (GRCm39) Q3P probably benign Het
H2-D1 G A 17: 35,482,564 (GRCm39) E95K probably benign Het
Ikzf3 T C 11: 98,409,521 (GRCm39) E14G probably benign Het
Jag1 A T 2: 136,957,558 (GRCm39) N51K possibly damaging Het
Khdrbs3 A G 15: 68,800,635 (GRCm39) D14G possibly damaging Het
Krt84 A G 15: 101,438,659 (GRCm39) V276A probably damaging Het
Lamb1 T C 12: 31,348,948 (GRCm39) I660T possibly damaging Het
Lcmt2 A T 2: 120,970,488 (GRCm39) S198R probably benign Het
Lcn6 G A 2: 25,567,131 (GRCm39) R44H probably benign Het
Lrfn5 A T 12: 61,886,527 (GRCm39) H105L probably damaging Het
Lrit1 G A 14: 36,784,091 (GRCm39) R473K probably benign Het
Marchf1 A G 8: 66,921,042 (GRCm39) T495A probably damaging Het
Marveld3 T G 8: 110,675,174 (GRCm39) probably null Het
Mbd3 T C 10: 80,230,420 (GRCm39) D160G possibly damaging Het
Mrc2 T G 11: 105,238,551 (GRCm39) C1233G probably damaging Het
Ms4a13 T G 19: 11,161,225 (GRCm39) T105P probably damaging Het
Mtbp T C 15: 55,480,951 (GRCm39) Y306H probably damaging Het
Muc3a T C 5: 137,244,958 (GRCm39) probably benign Het
Myo1g T A 11: 6,470,811 (GRCm39) Y15F probably benign Het
Nae1 A T 8: 105,250,216 (GRCm39) Y226N probably benign Het
Nlrp9a A G 7: 26,267,316 (GRCm39) S715G probably benign Het
Or1j10 A T 2: 36,267,633 (GRCm39) M282L probably benign Het
Or2ag17 T C 7: 106,390,028 (GRCm39) Y60C probably damaging Het
Or4s2b T A 2: 88,508,219 (GRCm39) S7T possibly damaging Het
Or7g26 A T 9: 19,230,612 (GRCm39) S267C probably damaging Het
Or8g55 G T 9: 39,784,707 (GRCm39) M45I probably benign Het
Pip5kl1 A T 2: 32,466,691 (GRCm39) N62I probably benign Het
Pkhd1l1 T C 15: 44,408,890 (GRCm39) V2459A probably damaging Het
Prb1a T A 6: 132,184,439 (GRCm39) Q398L unknown Het
Prkab2 T C 3: 97,571,263 (GRCm39) L165S probably damaging Het
Prl3d2 C G 13: 27,305,689 (GRCm39) probably benign Het
Ptdss1 G A 13: 67,143,472 (GRCm39) G435D probably benign Het
Qrfpr A G 3: 36,236,729 (GRCm39) L224P probably damaging Het
Rasl2-9 C T 7: 5,128,441 (GRCm39) W163* probably null Het
Rgs5 A G 1: 169,517,983 (GRCm39) probably null Het
Rnf19b T C 4: 128,972,754 (GRCm39) L255P probably damaging Het
Rp9 A C 9: 22,368,751 (GRCm39) N69K probably damaging Het
Sh3bp4 G T 1: 89,073,210 (GRCm39) S686I probably damaging Het
Shfl AGAGGAGGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGAGGAGGA 9: 20,785,013 (GRCm39) probably benign Het
Spp2 C A 1: 88,340,015 (GRCm39) Q5K possibly damaging Het
Svep1 C T 4: 58,070,239 (GRCm39) G2516R probably damaging Het
Syncrip A C 9: 88,361,949 (GRCm39) S55R probably damaging Het
Tacc3 T C 5: 33,818,652 (GRCm39) L29P probably damaging Het
Tex15 A G 8: 34,065,120 (GRCm39) T1517A probably damaging Het
Tmem140 A G 6: 34,849,660 (GRCm39) M59V probably benign Het
Ttn G T 2: 76,575,872 (GRCm39) A25007E probably damaging Het
Ubr2 T C 17: 47,297,615 (GRCm39) T253A possibly damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Usp38 A G 8: 81,722,399 (GRCm39) L374P probably damaging Het
Vmn1r42 T A 6: 89,822,483 (GRCm39) I29L probably benign Het
Vmn2r94 C T 17: 18,477,242 (GRCm39) V390M probably benign Het
Vmp1 A G 11: 86,552,026 (GRCm39) Y113H possibly damaging Het
Wdr20 T C 12: 110,760,464 (GRCm39) M450T probably benign Het
Ylpm1 T C 12: 85,061,770 (GRCm39) V557A unknown Het
Zpld1 T C 16: 55,053,935 (GRCm39) N286D probably damaging 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
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'- GCCACTTGGTTACAGACACTATCCC -3'
(R):5'- AGTGCTGAAGGCTCATTCCTTCCC -3'

Sequencing Primer
(F):5'- ttgctgccaatctttacaacc -3'
(R):5'- ATGGCCCTACCCCATTATTTATG -3'
Posted On 2014-04-13