Incidental Mutation 'PIT4696001:Pebp1'
ID 556783
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4696001 (G1)
Quality Score 219.009
Status Validated
Chromosome 5
Chromosomal Location 117420716-117425629 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117421527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 117 (L117P)
Ref Sequence ENSEMBL: ENSMUSP00000048425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036951] [ENSMUST00000111973] [ENSMUST00000142428]
AlphaFold P70296
Predicted Effect probably damaging
Transcript: ENSMUST00000036951
AA Change: L117P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048425
Gene: ENSMUSG00000032959
AA Change: L117P

DomainStartEndE-ValueType
Pfam:PBP 22 170 3.8e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111973
AA Change: L139P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107604
Gene: ENSMUSG00000032959
AA Change: L139P

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: 93.5%
  • 3x: 91.0%
  • 10x: 86.2%
  • 20x: 75.9%
Validation Efficiency 100% (57/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 G A 7: 119,384,209 (GRCm39) probably null Het
Adam20 T A 8: 41,247,985 (GRCm39) Y32N probably benign Het
Adm T C 7: 110,227,496 (GRCm39) V4A probably benign Het
Anpep G A 7: 79,489,212 (GRCm39) T320I possibly damaging Het
Atp8b1 T C 18: 64,672,341 (GRCm39) S1008G possibly damaging Het
B9d1 T A 11: 61,396,069 (GRCm39) M12K possibly damaging Het
Cad T C 5: 31,229,438 (GRCm39) L1435P probably damaging Het
Cat T C 2: 103,302,157 (GRCm39) D180G probably damaging Het
Cntln C T 4: 84,892,237 (GRCm39) T374M probably damaging Het
Cyp2a5 G A 7: 26,540,404 (GRCm39) R339Q probably benign Het
Defa22 T C 8: 21,652,352 (GRCm39) L6P probably damaging Het
Dr1 T A 5: 108,417,604 (GRCm39) I50K probably damaging Het
Eln C T 5: 134,766,032 (GRCm39) G57E unknown Het
Fat4 T C 3: 38,943,153 (GRCm39) I682T probably benign Het
Fat4 C A 3: 39,036,506 (GRCm39) A3386E probably damaging Het
Fcgr3 T A 1: 170,885,319 (GRCm39) Y102F probably damaging Het
Gm5930 A T 14: 44,573,993 (GRCm39) L115M probably damaging Het
Herc1 T A 9: 66,386,291 (GRCm39) V3748D probably damaging Het
Ino80d A G 1: 63,125,145 (GRCm39) S106P probably benign Het
Kcns3 C T 12: 11,142,749 (GRCm39) probably benign Het
Kndc1 T A 7: 139,512,830 (GRCm39) L1527Q probably damaging Het
Lepr T G 4: 101,637,180 (GRCm39) S690A probably benign Het
Lrfn5 T C 12: 61,890,343 (GRCm39) F544S probably damaging Het
Mapkap1 C A 2: 34,509,861 (GRCm39) H450Q probably damaging Het
Mdm1 A G 10: 117,994,445 (GRCm39) T485A probably benign Het
Megf10 T C 18: 57,410,760 (GRCm39) C690R probably damaging Het
Myo7a A G 7: 97,712,806 (GRCm39) M1723T probably benign Het
Nrip3 A T 7: 109,364,714 (GRCm39) C137* probably null Het
Or5w22 T A 2: 87,363,124 (GRCm39) I249N probably damaging Het
Pde4a T A 9: 21,122,297 (GRCm39) M731K probably benign Het
Phc2 T C 4: 128,598,995 (GRCm39) Y51H probably damaging Het
Ppp2r5b A G 19: 6,284,713 (GRCm39) F50S probably benign Het
Prpf4b A G 13: 35,083,825 (GRCm39) S865G probably benign Het
Ptpn5 C T 7: 46,738,354 (GRCm39) V243M probably benign Het
Rora T C 9: 69,271,841 (GRCm39) L273P possibly damaging Het
Rtp4 T A 16: 23,432,204 (GRCm39) S245R probably benign Het
Scgb2b20 C T 7: 33,063,985 (GRCm39) G95D probably benign Het
Sec24b A G 3: 129,788,040 (GRCm39) V820A probably benign Het
Sim2 A G 16: 93,895,168 (GRCm39) D62G possibly damaging Het
Slc17a4 A T 13: 24,084,497 (GRCm39) V429D probably benign Het
Sp2 T C 11: 96,852,799 (GRCm39) T42A probably damaging Het
Spata3 G A 1: 85,952,169 (GRCm39) R141Q unknown Het
Sptbn2 A T 19: 4,795,605 (GRCm39) E1658D probably benign Het
Tcaf1 T C 6: 42,655,473 (GRCm39) H501R probably benign Het
Tec G A 5: 72,931,178 (GRCm39) T262M possibly damaging Het
Timm9 A T 12: 71,172,305 (GRCm39) N22K possibly damaging Het
Tln1 C T 4: 43,542,701 (GRCm39) probably null Het
Tmbim4 A G 10: 120,053,529 (GRCm39) I109M probably benign Het
Tmc7 T C 7: 118,163,566 (GRCm39) K110E probably benign Het
Tmem107 C T 11: 68,963,399 (GRCm39) P136L probably benign Het
Ttc21b T C 2: 66,061,563 (GRCm39) probably null Het
Ubd A C 17: 37,506,335 (GRCm39) T74P probably damaging Het
Vps11 A G 9: 44,269,486 (GRCm39) V255A possibly damaging Het
Vsnl1 T C 12: 11,376,448 (GRCm39) T146A probably benign Het
Wdr38 G T 2: 38,889,984 (GRCm39) probably null Het
Yes1 T A 5: 32,841,969 (GRCm39) S498T possibly damaging Het
Zc3h13 G A 14: 75,569,323 (GRCm39) R1390H probably damaging Het
Zscan4b A G 7: 10,635,949 (GRCm39) V126A possibly damaging Het
Other mutations in Pebp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8672:Pebp1 UTSW 5 117,421,336 (GRCm39) missense probably benign 0.01
Z1177:Pebp1 UTSW 5 117,425,686 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- CATAGTCATCCCACTCGGCTTG -3'
(R):5'- GAGCACTCTGATGGATGGTG -3'

Sequencing Primer
(F):5'- TTGGTAGCACGTGCCCG -3'
(R):5'- GACTGTCCTGGAACTCTGTAGAC -3'
Posted On 2019-06-07