Incidental Mutation 'R4595:Pebp1'
ID 344317
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 041811-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4595 (G1)
Quality Score 186
Status Validated
Chromosome 5
Chromosomal Location 117420716-117425629 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 117421475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 156 (D156E)
Ref Sequence ENSEMBL: ENSMUSP00000107604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036951] [ENSMUST00000111973] [ENSMUST00000142428]
AlphaFold P70296
Predicted Effect probably benign
Transcript: ENSMUST00000036951
AA Change: D134E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000048425
Gene: ENSMUSG00000032959
AA Change: D134E

DomainStartEndE-ValueType
Pfam:PBP 22 170 3.8e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111973
AA Change: D156E

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000107604
Gene: ENSMUSG00000032959
AA Change: D156E

DomainStartEndE-ValueType
Pfam:PBP 29 117 2.7e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139913
Predicted Effect probably benign
Transcript: ENSMUST00000142428
SMART Domains Protein: ENSMUSP00000116186
Gene: ENSMUSG00000032959

DomainStartEndE-ValueType
Pfam:PBP 22 122 8.4e-21 PFAM
Meta Mutation Damage Score 0.1080 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 94% (62/66)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
4921536K21Rik A G 11: 3,840,052 (GRCm39) I115T probably benign Het
Acads A T 5: 115,251,123 (GRCm39) N120K probably damaging Het
Aco1 T A 4: 40,167,139 (GRCm39) C118S probably benign Het
Alpk2 T C 18: 65,422,819 (GRCm39) T1493A probably damaging Het
AU018091 A G 7: 3,208,268 (GRCm39) Y480H possibly damaging Het
Brd4 A T 17: 32,417,896 (GRCm39) I86N probably damaging Het
Ccdc180 A G 4: 45,945,023 (GRCm39) E1477G probably damaging Het
Ccne2 A G 4: 11,202,986 (GRCm39) N368S probably benign Het
Cenpp A T 13: 49,794,710 (GRCm39) F152L probably benign Het
Cfap46 T A 7: 139,232,320 (GRCm39) D881V possibly damaging Het
Chmp7 A G 14: 69,958,678 (GRCm39) V212A probably damaging Het
Col9a2 A T 4: 120,902,352 (GRCm39) K196N probably benign Het
Copg2 T C 6: 30,749,449 (GRCm39) D814G probably damaging Het
Dcaf13 G A 15: 38,982,288 (GRCm39) G85R probably damaging Het
Dnah9 A G 11: 66,058,978 (GRCm39) S106P probably benign Het
Dpp8 A G 9: 64,983,085 (GRCm39) D739G probably damaging Het
Drd2 T A 9: 49,316,089 (GRCm39) M283K probably benign Het
Espl1 A G 15: 102,207,159 (GRCm39) T208A probably benign Het
Glul G A 1: 153,778,796 (GRCm39) G35D possibly damaging Het
Gm14412 T C 2: 177,007,005 (GRCm39) K297E unknown Het
Gm21976 A T 13: 98,442,318 (GRCm39) R120W probably damaging Het
Hipk3 T A 2: 104,271,622 (GRCm39) T437S probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Lipn T G 19: 34,058,750 (GRCm39) Y321D probably damaging Het
Lrwd1 A G 5: 136,152,810 (GRCm39) V484A probably benign Het
Madd T C 2: 90,998,009 (GRCm39) D673G possibly damaging Het
Marveld1 T A 19: 42,136,203 (GRCm39) L39Q probably damaging Het
Mfsd2b T C 12: 4,915,807 (GRCm39) T299A possibly damaging Het
Micu3 T C 8: 40,812,438 (GRCm39) probably benign Het
Mmp7 T C 9: 7,697,667 (GRCm39) V234A probably damaging Het
Nhsl1 T A 10: 18,403,357 (GRCm39) D1329E probably benign Het
Or4a15 C T 2: 89,193,669 (GRCm39) V35M probably damaging Het
Or4f14b T C 2: 111,774,997 (GRCm39) D268G possibly damaging Het
Or52a33 A G 7: 103,289,308 (GRCm39) F13S probably damaging Het
Pcdhb21 T A 18: 37,647,568 (GRCm39) D232E probably damaging Het
Pik3cb A G 9: 98,937,459 (GRCm39) Y745H possibly damaging Het
Pld2 T C 11: 70,432,846 (GRCm39) L170P probably damaging Het
Ptch1 T C 13: 63,691,422 (GRCm39) D277G possibly damaging Het
Rab11fip1 A T 8: 27,644,603 (GRCm39) M394K probably damaging Het
Rhoq T C 17: 87,271,754 (GRCm39) Y57H probably benign Het
Setbp1 T C 18: 78,900,731 (GRCm39) I979V probably benign Het
Slc6a4 A G 11: 76,910,689 (GRCm39) I447V probably benign Het
Sos2 T C 12: 69,663,663 (GRCm39) K607R probably damaging Het
Stt3a T C 9: 36,646,808 (GRCm39) I602V probably damaging Het
Syne2 A T 12: 76,013,845 (GRCm39) Q3012L possibly damaging Het
Taf1b T A 12: 24,550,441 (GRCm39) F9I possibly damaging Het
Tex35 T A 1: 156,926,909 (GRCm39) Y195F probably benign Het
Tnc T C 4: 63,913,982 (GRCm39) T1277A probably damaging Het
Tnfsf15 G T 4: 63,648,180 (GRCm39) Y153* probably null Het
Trim5 C A 7: 103,914,639 (GRCm39) V477F probably damaging Het
Trp73 A G 4: 154,148,874 (GRCm39) I245T probably damaging Het
Zbtb16 C T 9: 48,743,380 (GRCm39) E311K possibly damaging Het
Zmynd19 A G 2: 24,849,000 (GRCm39) D165G probably 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
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'- ACAACTTAACAAGGCTGTGGG -3'
(R):5'- GTGGAGCACTCTGATGGATG -3'

Sequencing Primer
(F):5'- CTGTGGGGGCCCCTGTG -3'
(R):5'- GACTGTCCTGGAACTCTGTAGAC -3'
Posted On 2015-09-25