Incidental Mutation 'R4171:Pecr'
ID 318120
Institutional Source Beutler Lab
Gene Symbol Pecr
Ensembl Gene ENSMUSG00000026189
Gene Name peroxisomal trans-2-enoyl-CoA reductase
Synonyms 2400003B18Rik
MMRRC Submission 041011-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R4171 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 72298326-72323473 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72315428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 107 (N107K)
Ref Sequence ENSEMBL: ENSMUSP00000095304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027381] [ENSMUST00000097698] [ENSMUST00000129458] [ENSMUST00000134840]
AlphaFold Q99MZ7
Predicted Effect probably damaging
Transcript: ENSMUST00000027381
AA Change: N107K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027381
Gene: ENSMUSG00000026189
AA Change: N107K

DomainStartEndE-ValueType
Pfam:adh_short 19 216 5e-47 PFAM
Pfam:KR 20 148 2.3e-10 PFAM
Pfam:adh_short_C2 25 266 4.1e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097698
AA Change: N107K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095304
Gene: ENSMUSG00000026189
AA Change: N107K

DomainStartEndE-ValueType
Pfam:adh_short 19 190 5.8e-26 PFAM
Pfam:KR 20 148 9.3e-12 PFAM
Pfam:adh_short_C2 25 242 8.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129458
Predicted Effect probably benign
Transcript: ENSMUST00000134840
SMART Domains Protein: ENSMUSP00000120890
Gene: ENSMUSG00000026189

DomainStartEndE-ValueType
Pfam:adh_short 19 89 1.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180722
Meta Mutation Damage Score 0.9409 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
2310022A10Rik A G 7: 27,265,109 (GRCm39) N87S probably benign Het
Apmap A G 2: 150,425,987 (GRCm39) V387A probably benign Het
B130024G19Rik C T 7: 70,038,454 (GRCm39) noncoding transcript Het
Cd200r1 A G 16: 44,613,127 (GRCm39) I244M probably damaging Het
Clic6 T C 16: 92,293,949 (GRCm39) probably benign Het
Col11a1 A G 3: 114,001,863 (GRCm39) D429G probably damaging Het
Dsg4 T A 18: 20,591,636 (GRCm39) Y458* probably null Het
Elapor1 G T 3: 108,368,259 (GRCm39) Q885K probably benign Het
Fbxl13 A G 5: 21,748,786 (GRCm39) Y378H probably benign Het
Ifi203 A C 1: 173,761,341 (GRCm39) probably benign Het
Ifna6 T C 4: 88,746,038 (GRCm39) V129A probably benign Het
Igkv3-4 G A 6: 70,649,324 (GRCm39) A108T probably damaging Het
Itga1 G A 13: 115,167,422 (GRCm39) Q165* probably null Het
Kdm4c T A 4: 74,199,135 (GRCm39) Y108N possibly damaging Het
Lap3 T C 5: 45,666,833 (GRCm39) S412P probably benign Het
Lrfn5 G A 12: 61,890,168 (GRCm39) V486I probably damaging Het
Mep1b A T 18: 21,228,163 (GRCm39) probably null Het
Mettl6 T C 14: 31,215,624 (GRCm39) N52S probably damaging Het
Nup54 A G 5: 92,565,343 (GRCm39) I458T possibly damaging Het
Or1e16 A C 11: 73,286,365 (GRCm39) L161R probably damaging Het
Or6c204 G A 10: 129,022,453 (GRCm39) A279V probably benign Het
Pnpla6 A G 8: 3,593,997 (GRCm39) Q1307R probably benign Het
Poll T C 19: 45,544,492 (GRCm39) K310E probably damaging Het
Rab29 A G 1: 131,795,475 (GRCm39) Q29R probably benign Het
Reg2 G A 6: 78,383,574 (GRCm39) G99D probably damaging Het
Rftn2 G A 1: 55,253,429 (GRCm39) S58L probably damaging Het
Rps6kb1 T C 11: 86,435,405 (GRCm39) E43G possibly damaging Het
Sdk2 T C 11: 113,757,815 (GRCm39) probably null Het
Slc38a6 T A 12: 73,397,326 (GRCm39) Y323N probably benign Het
Sp100 T C 1: 85,634,562 (GRCm39) S152P probably benign Het
Tmc5 A G 7: 118,248,810 (GRCm39) Y605C probably damaging Het
Txndc17 T C 11: 72,098,537 (GRCm39) Y30H probably damaging Het
Vmn1r44 T A 6: 89,870,996 (GRCm39) F247L probably damaging Het
Zbtb39 C T 10: 127,578,236 (GRCm39) T270I possibly damaging Het
Zfp512b G A 2: 181,232,391 (GRCm39) probably null Het
Zwilch T A 9: 64,065,997 (GRCm39) R255* probably null Het
Other mutations in Pecr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03124:Pecr APN 1 72,316,499 (GRCm39) missense probably benign 0.04
R1556:Pecr UTSW 1 72,298,542 (GRCm39) missense probably benign
R1711:Pecr UTSW 1 72,316,568 (GRCm39) missense possibly damaging 0.93
R1882:Pecr UTSW 1 72,314,136 (GRCm39) splice site probably null
R2150:Pecr UTSW 1 72,316,517 (GRCm39) missense possibly damaging 0.73
R2507:Pecr UTSW 1 72,301,135 (GRCm39) missense probably benign 0.11
R2516:Pecr UTSW 1 72,316,469 (GRCm39) missense probably damaging 1.00
R3774:Pecr UTSW 1 72,298,530 (GRCm39) missense probably benign 0.00
R3775:Pecr UTSW 1 72,298,530 (GRCm39) missense probably benign 0.00
R3968:Pecr UTSW 1 72,315,468 (GRCm39) missense probably damaging 0.99
R3969:Pecr UTSW 1 72,315,468 (GRCm39) missense probably damaging 0.99
R3970:Pecr UTSW 1 72,315,468 (GRCm39) missense probably damaging 0.99
R4773:Pecr UTSW 1 72,306,594 (GRCm39) missense probably damaging 1.00
R4864:Pecr UTSW 1 72,316,490 (GRCm39) missense probably benign 0.35
R5191:Pecr UTSW 1 72,314,136 (GRCm39) splice site probably null
R5259:Pecr UTSW 1 72,316,444 (GRCm39) critical splice donor site probably null
R5331:Pecr UTSW 1 72,314,005 (GRCm39) intron probably benign
R6828:Pecr UTSW 1 72,306,616 (GRCm39) nonsense probably null
R7238:Pecr UTSW 1 72,298,592 (GRCm39) missense probably damaging 0.99
R7358:Pecr UTSW 1 72,306,624 (GRCm39) missense probably benign 0.01
R7745:Pecr UTSW 1 72,306,157 (GRCm39) splice site probably null
R7997:Pecr UTSW 1 72,315,475 (GRCm39) nonsense probably null
R8123:Pecr UTSW 1 72,314,094 (GRCm39) missense probably benign 0.16
R8155:Pecr UTSW 1 72,309,443 (GRCm39) missense probably damaging 1.00
R8399:Pecr UTSW 1 72,306,624 (GRCm39) missense probably benign 0.01
R8702:Pecr UTSW 1 72,306,661 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCTCTTACTGAAGCCATGCTG -3'
(R):5'- TTCACACTGTGGGATCTGGG -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- ACTGTGGGATCTGGGGGTTTATTC -3'
Posted On 2015-06-10