Incidental Mutation 'R8672:Pebp1'
ID 661205
Institutional Source Beutler Lab
Gene Symbol Pebp1
Ensembl Gene ENSMUSG00000032959
Gene Name phosphatidylethanolamine binding protein 1
Synonyms Raf-1 inhibitor protein, RKIP, Pbpr, Pebp1, Pbp1
MMRRC Submission 068527-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8672 (G1)
Quality Score 182.009
Status Not validated
Chromosome 5
Chromosomal Location 117420716-117425629 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117421336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 181 (Y181H)
Ref Sequence ENSEMBL: ENSMUSP00000048425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036951] [ENSMUST00000111973] [ENSMUST00000142428]
AlphaFold P70296
Predicted Effect probably benign
Transcript: ENSMUST00000036951
AA Change: Y181H

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000048425
Gene: ENSMUSG00000032959
AA Change: Y181H

DomainStartEndE-ValueType
Pfam:PBP 22 170 3.8e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111973
AA Change: Y203H

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107604
Gene: ENSMUSG00000032959
AA Change: Y203H

DomainStartEndE-ValueType
Pfam:PBP 29 117 2.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142428
SMART Domains Protein: ENSMUSP00000116186
Gene: ENSMUSG00000032959

DomainStartEndE-ValueType
Pfam:PBP 22 122 8.4e-21 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphatidylethanolamine-binding family of proteins and has been shown to modulate multiple signaling pathways, including the MAP kinase (MAPK), NF-kappa B, and glycogen synthase kinase-3 (GSK-3) signaling pathways. The encoded protein can be further processed to form a smaller cleavage product, hippocampal cholinergic neurostimulating peptide (HCNP), which may be involved in neural development. This gene has been implicated in numerous human cancers and may act as a metastasis suppressor gene. Multiple pseudogenes of this gene have been identified in the genome. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit age-related decrease in olfactory function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G T 17: 48,400,849 (GRCm39) E45* probably null Het
Aadat A T 8: 60,959,179 (GRCm39) probably benign Het
Amigo3 A G 9: 107,931,375 (GRCm39) H266R possibly damaging Het
Amy2a1 A T 3: 113,323,146 (GRCm39) M214K probably damaging Het
Atp11b A T 3: 35,874,066 (GRCm39) D685V probably benign Het
Aunip T A 4: 134,250,460 (GRCm39) M135K probably benign Het
Brd10 T C 19: 29,731,564 (GRCm39) T483A probably benign Het
Card9 T C 2: 26,247,950 (GRCm39) T134A probably benign Het
Cd46 G A 1: 194,764,949 (GRCm39) T216I probably benign Het
Chit1 T C 1: 134,079,005 (GRCm39) V360A unknown Het
Crcp A G 5: 130,071,077 (GRCm39) R59G probably benign Het
Csmd1 T A 8: 15,976,598 (GRCm39) E2873D probably benign Het
Cyp8b1 T A 9: 121,743,986 (GRCm39) M449L probably benign Het
Dpp7 T C 2: 25,246,133 (GRCm39) D40G probably benign Het
Eif4g3 T A 4: 137,853,823 (GRCm39) L463Q possibly damaging Het
Fzd9 T C 5: 135,278,524 (GRCm39) I454V probably benign Het
Gbp11 T A 5: 105,491,675 (GRCm39) I41F probably damaging Het
Gkap1 G A 13: 58,391,662 (GRCm39) T231I probably damaging Het
Heatr5b A G 17: 79,069,632 (GRCm39) L1705P probably damaging Het
Herc3 T A 6: 58,850,786 (GRCm39) F467I probably damaging Het
Ifih1 T C 2: 62,435,993 (GRCm39) E699G possibly damaging Het
Ints5 T A 19: 8,873,370 (GRCm39) L443Q probably damaging Het
Itpr2 A T 6: 146,276,016 (GRCm39) C764S probably damaging Het
Kcnma1 A T 14: 23,551,230 (GRCm39) I519N probably damaging Het
Krtap4-1 C T 11: 99,518,890 (GRCm39) C40Y unknown Het
Mdn1 A G 4: 32,768,793 (GRCm39) D5384G probably damaging Het
Mpl T C 4: 118,306,110 (GRCm39) Y310C probably damaging Het
Mucl1 A G 15: 103,784,063 (GRCm39) S48P possibly damaging Het
Musk T G 4: 58,286,051 (GRCm39) probably benign Het
Nemp1 T C 10: 127,512,988 (GRCm39) S8P probably benign Het
Nisch A G 14: 30,895,093 (GRCm39) C1068R probably damaging Het
Npr3 T C 15: 11,851,579 (GRCm39) N404D probably damaging Het
Nwd1 C G 8: 73,394,007 (GRCm39) H423Q probably damaging Het
Or5a1 C T 19: 12,097,921 (GRCm39) V52M probably benign Het
Or6c66b T A 10: 129,376,596 (GRCm39) N63K probably damaging Het
Or8j3c T A 2: 86,253,976 (GRCm39) M15L probably benign Het
Pcdh9 T C 14: 94,124,529 (GRCm39) N547S probably benign Het
Pdha2 C A 3: 140,917,124 (GRCm39) R128L probably damaging Het
Peg3 T G 7: 6,711,523 (GRCm39) D1233A possibly damaging Het
Pepd C A 7: 34,642,107 (GRCm39) T146N probably damaging Het
Ptk2b A T 14: 66,393,841 (GRCm39) D877E probably benign Het
Rabgap1l A C 1: 160,270,846 (GRCm39) M647R probably damaging Het
Rp1 A G 1: 4,419,007 (GRCm39) S702P possibly damaging Het
Shb A T 4: 45,489,161 (GRCm39) D238E probably damaging Het
Slc36a1 T A 11: 55,123,334 (GRCm39) V433D possibly damaging Het
Spata31h1 A T 10: 82,127,726 (GRCm39) N1761K probably benign Het
Spen C T 4: 141,197,681 (GRCm39) A3396T probably benign Het
Tcerg1 A T 18: 42,686,559 (GRCm39) K705N probably damaging Het
Thbs1 C A 2: 117,943,719 (GRCm39) N112K probably benign Het
Zfp658 T C 7: 43,222,919 (GRCm39) I398T possibly damaging Het
Other mutations in Pebp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4696001:Pebp1 UTSW 5 117,421,527 (GRCm39) missense probably damaging 1.00
R1575:Pebp1 UTSW 5 117,424,229 (GRCm39) missense possibly damaging 0.93
R4595:Pebp1 UTSW 5 117,421,475 (GRCm39) missense probably benign 0.11
R5072:Pebp1 UTSW 5 117,421,475 (GRCm39) missense probably benign 0.11
R6038:Pebp1 UTSW 5 117,422,170 (GRCm39) missense probably benign
R6038:Pebp1 UTSW 5 117,422,170 (GRCm39) missense probably benign
R7138:Pebp1 UTSW 5 117,423,882 (GRCm39) missense probably damaging 1.00
R8263:Pebp1 UTSW 5 117,425,473 (GRCm39) critical splice donor site probably null
Z1177:Pebp1 UTSW 5 117,425,686 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TCAATCAAACAGAACCTGGGATG -3'
(R):5'- GTCTCCACCGCTATGTCTGG -3'

Sequencing Primer
(F):5'- ACTATCCAGAATCGTGACGGCTG -3'
(R):5'- CCGCTATGTCTGGCTGGTGTAC -3'
Posted On 2021-03-08