Incidental Mutation 'R4595:Pebp1'
ID344317
Institutional Source Beutler Lab
Gene Symbol Pebp1
Ensembl Gene ENSMUSG00000032959
Gene Namephosphatidylethanolamine binding protein 1
SynonymsRKIP, Pbp1, Raf-1 inhibitor protein, Pbpr, Pebp1
MMRRC Submission 041811-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4595 (G1)
Quality Score186
Status Validated
Chromosome5
Chromosomal Location117282654-117287625 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 117283410 bp
ZygosityHeterozygous
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]
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 G T 12: 71,164,546 E685* probably null Het
2700049A03Rik A T 12: 71,164,547 E685V possibly damaging Het
4921536K21Rik A G 11: 3,890,052 I115T probably benign Het
Acads A T 5: 115,113,064 N120K probably damaging Het
Aco1 T A 4: 40,167,139 C118S probably benign Het
Alpk2 T C 18: 65,289,748 T1493A probably damaging Het
AU018091 A G 7: 3,158,428 Y480H possibly damaging Het
Brd4 A T 17: 32,198,922 I86N probably damaging Het
Ccdc180 A G 4: 45,945,023 E1477G probably damaging Het
Ccne2 A G 4: 11,202,986 N368S probably benign Het
Cenpp A T 13: 49,641,234 F152L probably benign Het
Cfap46 T A 7: 139,652,404 D881V possibly damaging Het
Chmp7 A G 14: 69,721,229 V212A probably damaging Het
Col9a2 A T 4: 121,045,155 K196N probably benign Het
Copg2 T C 6: 30,749,450 D814G probably damaging Het
Dcaf13 G A 15: 39,118,893 G85R probably damaging Het
Dnah9 A G 11: 66,168,152 S106P probably benign Het
Dpp8 A G 9: 65,075,803 D739G probably damaging Het
Drd2 T A 9: 49,404,789 M283K probably benign Het
Espl1 A G 15: 102,298,724 T208A probably benign Het
Glul G A 1: 153,903,050 G35D possibly damaging Het
Gm14412 T C 2: 177,315,212 K297E unknown Het
Gm21976 A T 13: 98,305,810 R120W probably damaging Het
Hipk3 T A 2: 104,441,277 T437S probably benign Het
Kcnd3 C T 3: 105,658,766 A421V probably damaging Het
Lipn T G 19: 34,081,350 Y321D probably damaging Het
Lrwd1 A G 5: 136,123,956 V484A probably benign Het
Madd T C 2: 91,167,664 D673G possibly damaging Het
Marveld1 T A 19: 42,147,764 L39Q probably damaging Het
Mfsd2b T C 12: 4,865,807 T299A possibly damaging Het
Micu3 T C 8: 40,359,397 probably benign Het
Mmp7 T C 9: 7,697,666 V234A probably damaging Het
Nhsl1 T A 10: 18,527,609 D1329E probably benign Het
Olfr1234 C T 2: 89,363,325 V35M probably damaging Het
Olfr1307 T C 2: 111,944,652 D268G possibly damaging Het
Olfr622 A G 7: 103,640,101 F13S probably damaging Het
Pcdhb21 T A 18: 37,514,515 D232E probably damaging Het
Pik3cb A G 9: 99,055,406 Y745H possibly damaging Het
Pld2 T C 11: 70,542,020 L170P probably damaging Het
Ptch1 T C 13: 63,543,608 D277G possibly damaging Het
Rab11fip1 A T 8: 27,154,575 M394K probably damaging Het
Rhoq T C 17: 86,964,326 Y57H probably benign Het
Setbp1 T C 18: 78,857,516 I979V probably benign Het
Slc6a4 A G 11: 77,019,863 I447V probably benign Het
Sos2 T C 12: 69,616,889 K607R probably damaging Het
Stt3a T C 9: 36,735,512 I602V probably damaging Het
Syne2 A T 12: 75,967,071 Q3012L possibly damaging Het
Taf1b T A 12: 24,500,442 F9I possibly damaging Het
Tex35 T A 1: 157,099,339 Y195F probably benign Het
Tnc T C 4: 63,995,745 T1277A probably damaging Het
Tnfsf15 G T 4: 63,729,943 Y153* probably null Het
Trim5 C A 7: 104,265,432 V477F probably damaging Het
Trp73 A G 4: 154,064,417 I245T probably damaging Het
Zbtb16 C T 9: 48,832,080 E311K possibly damaging Het
Zmynd19 A G 2: 24,958,988 D165G probably damaging Het
Other mutations in Pebp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4696001:Pebp1 UTSW 5 117283462 missense probably damaging 1.00
R1575:Pebp1 UTSW 5 117286164 missense possibly damaging 0.93
R5072:Pebp1 UTSW 5 117283410 missense probably benign 0.11
R6038:Pebp1 UTSW 5 117284105 missense probably benign
R6038:Pebp1 UTSW 5 117284105 missense probably benign
R7138:Pebp1 UTSW 5 117285817 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAACTTAACAAGGCTGTGGG -3'
(R):5'- GTGGAGCACTCTGATGGATG -3'

Sequencing Primer
(F):5'- CTGTGGGGGCCCCTGTG -3'
(R):5'- GACTGTCCTGGAACTCTGTAGAC -3'
Posted On2015-09-25