Incidental Mutation 'R1699:Pdcd6ip'
ID 192530
Institutional Source Beutler Lab
Gene Symbol Pdcd6ip
Ensembl Gene ENSMUSG00000032504
Gene Name programmed cell death 6 interacting protein
Synonyms AIP1, Alix
MMRRC Submission 039732-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1699 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 113480812-113537327 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113507422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 378 (V378A)
Ref Sequence ENSEMBL: ENSMUSP00000035086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035086] [ENSMUST00000111861]
AlphaFold Q9WU78
Predicted Effect probably damaging
Transcript: ENSMUST00000035086
AA Change: V378A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035086
Gene: ENSMUSG00000032504
AA Change: V378A

DomainStartEndE-ValueType
BRO1 3 382 1.99e-160 SMART
Pfam:ALIX_LYPXL_bnd 408 702 3.6e-91 PFAM
low complexity region 731 812 N/A INTRINSIC
Blast:BRO1 813 839 2e-11 BLAST
low complexity region 840 869 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111861
AA Change: V383A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000107492
Gene: ENSMUSG00000032504
AA Change: V383A

DomainStartEndE-ValueType
BRO1 3 387 3.46e-160 SMART
Pfam:ALIX_LYPXL_bnd 417 706 8.8e-96 PFAM
low complexity region 736 817 N/A INTRINSIC
Blast:BRO1 818 844 2e-11 BLAST
low complexity region 845 874 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135545
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,337,363 (GRCm39) E2406G possibly damaging Het
Adam6b T A 12: 113,454,205 (GRCm39) F341I probably benign Het
Adam8 A T 7: 139,563,224 (GRCm39) N767K possibly damaging Het
Aig1 T C 10: 13,744,366 (GRCm39) D46G possibly damaging Het
Alms1 A G 6: 85,599,862 (GRCm39) I2032V possibly damaging Het
Ankrd16 A G 2: 11,789,204 (GRCm39) I264V probably benign Het
Areg T G 5: 91,291,357 (GRCm39) V100G probably damaging Het
Bcan A G 3: 87,896,543 (GRCm39) Y718H probably damaging Het
Brsk2 T A 7: 141,539,200 (GRCm39) I188N probably damaging Het
Cdt1 T C 8: 123,296,722 (GRCm39) Y203H probably damaging Het
Cfap119 A T 7: 127,186,028 (GRCm39) probably null Het
Chil3 A C 3: 106,067,682 (GRCm39) probably null Het
Ciao2b A G 8: 105,366,718 (GRCm39) V132A probably damaging Het
Cimip2c A G 5: 30,641,210 (GRCm39) probably null Het
Cth A G 3: 157,613,073 (GRCm39) L253P probably damaging Het
Cyp11b1 A G 15: 74,712,666 (GRCm39) F132L possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnah11 A G 12: 118,154,603 (GRCm39) S226P probably damaging Het
Egfr A T 11: 16,809,019 (GRCm39) Q71L probably benign Het
Eml6 T A 11: 29,696,282 (GRCm39) K1940* probably null Het
Epn2 T A 11: 61,414,014 (GRCm39) K391* probably null Het
Erich1 A T 8: 14,140,259 (GRCm39) S2T possibly damaging Het
Evi5 A C 5: 107,966,786 (GRCm39) L245R probably damaging Het
Evpl T C 11: 116,118,414 (GRCm39) Y731C probably damaging Het
Exoc3l G A 8: 106,021,645 (GRCm39) H128Y probably benign Het
Extl1 G A 4: 134,091,894 (GRCm39) Q320* probably null Het
Fam91a1 T A 15: 58,304,797 (GRCm39) S416T probably benign Het
Fat3 A T 9: 15,849,694 (GRCm39) S3903T probably damaging Het
Fer1l4 A G 2: 155,871,605 (GRCm39) F1392L probably benign Het
Fstl4 T C 11: 53,059,005 (GRCm39) I488T possibly damaging Het
Gak A T 5: 108,752,243 (GRCm39) Y338* probably null Het
Garin4 T A 1: 190,896,018 (GRCm39) E208D probably benign Het
Glp2r T C 11: 67,648,367 (GRCm39) T112A probably benign Het
Glrb G A 3: 80,769,081 (GRCm39) T180I probably damaging Het
Gm10118 C T 10: 63,762,671 (GRCm39) probably benign Het
Gpr19 A T 6: 134,847,192 (GRCm39) F72I possibly damaging Het
Grin3b C A 10: 79,811,716 (GRCm39) N740K probably damaging Het
Gstk1 A T 6: 42,223,535 (GRCm39) T42S probably benign Het
Hoxd1 G A 2: 74,594,626 (GRCm39) A294T probably benign Het
Hspg2 T A 4: 137,275,323 (GRCm39) probably null Het
Ift74 A T 4: 94,573,940 (GRCm39) N472I probably benign Het
Il1a C T 2: 129,144,813 (GRCm39) D202N probably damaging Het
Islr T C 9: 58,064,778 (GRCm39) D243G probably damaging Het
Kif21a C T 15: 90,843,946 (GRCm39) E1098K probably damaging Het
Krtap16-1 T C 11: 99,876,852 (GRCm39) E184G probably damaging Het
Lrp1b A G 2: 41,075,974 (GRCm39) I1889T possibly damaging Het
Mcpt4 A G 14: 56,297,416 (GRCm39) *247Q probably null Het
Megf10 T C 18: 57,410,802 (GRCm39) probably null Het
Mettl2 T A 11: 105,030,544 (GRCm39) H373Q probably benign Het
Mocos A G 18: 24,816,273 (GRCm39) K617E probably damaging Het
Ms4a8a A G 19: 11,053,761 (GRCm39) I115T probably damaging Het
Ndst1 T C 18: 60,828,580 (GRCm39) Y658C probably damaging Het
Nin G A 12: 70,077,712 (GRCm39) A1031V probably benign Het
Nin C A 12: 70,092,337 (GRCm39) K657N possibly damaging Het
Noc4l G A 5: 110,797,713 (GRCm39) R344* probably null Het
Notch2 T C 3: 98,052,443 (GRCm39) S1980P probably damaging Het
Npat C T 9: 53,473,960 (GRCm39) S584L probably benign Het
Nphp4 A G 4: 152,581,121 (GRCm39) T102A probably damaging Het
Olfml2b A G 1: 170,472,642 (GRCm39) N51S possibly damaging Het
Or2n1e A G 17: 38,585,932 (GRCm39) K90R probably benign Het
Or2y16 T A 11: 49,335,116 (GRCm39) I146N possibly damaging Het
Or5al1 T C 2: 85,990,280 (GRCm39) I145V probably benign Het
Or5w22 A G 2: 87,362,427 (GRCm39) T17A probably benign Het
Pced1b T A 15: 97,282,758 (GRCm39) W266R probably damaging Het
Pde8b T A 13: 95,169,374 (GRCm39) K683N probably damaging Het
Pfas T G 11: 68,888,872 (GRCm39) probably null Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plcd4 T G 1: 74,587,394 (GRCm39) S51R probably benign Het
Plekhh2 T A 17: 84,884,612 (GRCm39) Y775* probably null Het
Polr3a G A 14: 24,534,232 (GRCm39) P91L probably damaging Het
Ppp4r3b C T 11: 29,163,765 (GRCm39) T47I possibly damaging Het
Pter A T 2: 12,999,572 (GRCm39) D169V probably damaging Het
Ptpn12 A G 5: 21,203,168 (GRCm39) S537P probably benign Het
Ptpru T A 4: 131,506,361 (GRCm39) D1067V probably damaging Het
Rcn1 A T 2: 105,229,350 (GRCm39) D67E probably damaging Het
Rfc4 T C 16: 22,932,983 (GRCm39) E318G probably benign Het
Samd13 C A 3: 146,368,469 (GRCm39) R41L probably benign Het
Shoc1 T C 4: 59,113,926 (GRCm39) K13R unknown Het
Slc6a2 T C 8: 93,699,440 (GRCm39) I156T possibly damaging Het
Spag16 T C 1: 70,036,015 (GRCm39) F348L probably benign Het
Spag4 T C 2: 155,907,342 (GRCm39) Y21H probably damaging Het
Stam2 G A 2: 52,593,187 (GRCm39) A368V possibly damaging Het
Stc1 A T 14: 69,275,776 (GRCm39) M190L probably benign Het
Stxbp1 A G 2: 32,690,629 (GRCm39) L475P probably damaging Het
Syn3 A T 10: 85,916,075 (GRCm39) Y304N probably damaging Het
Tbc1d15 G T 10: 115,056,219 (GRCm39) T251K probably benign Het
Tbpl2 A T 2: 23,985,057 (GRCm39) M29K probably benign Het
Tead3 T G 17: 28,553,698 (GRCm39) Q170H possibly damaging Het
Tpbpb T C 13: 61,049,977 (GRCm39) N51D probably benign Het
Tstd3 A G 4: 21,759,400 (GRCm39) M124T probably benign Het
Ttyh1 T A 7: 4,122,695 (GRCm39) H14Q possibly damaging Het
Tubgcp4 G A 2: 121,020,374 (GRCm39) W449* probably null Het
Txndc11 A G 16: 10,905,639 (GRCm39) probably null Het
Usp24 T A 4: 106,296,024 (GRCm39) D2615E probably damaging Het
Vars1 A G 17: 35,233,734 (GRCm39) E1020G possibly damaging Het
Vmn2r58 A G 7: 41,509,951 (GRCm39) I542T probably benign Het
Vwf A G 6: 125,620,032 (GRCm39) Y1570C probably damaging Het
Vwf A T 6: 125,662,863 (GRCm39) Y2749F possibly damaging Het
Zfand1 A C 3: 10,406,115 (GRCm39) V198G possibly damaging Het
Zfp536 G A 7: 37,268,879 (GRCm39) T179I probably damaging Het
Zfp599 T C 9: 22,161,700 (GRCm39) Y155C probably benign Het
Other mutations in Pdcd6ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Pdcd6ip APN 9 113,526,586 (GRCm39) missense possibly damaging 0.89
IGL00814:Pdcd6ip APN 9 113,516,721 (GRCm39) missense probably damaging 0.97
IGL01092:Pdcd6ip APN 9 113,509,249 (GRCm39) splice site probably benign
IGL01621:Pdcd6ip APN 9 113,514,490 (GRCm39) missense probably benign 0.03
IGL01781:Pdcd6ip APN 9 113,520,566 (GRCm39) missense probably damaging 1.00
IGL02158:Pdcd6ip APN 9 113,509,121 (GRCm39) nonsense probably null
IGL03136:Pdcd6ip APN 9 113,520,567 (GRCm39) missense probably damaging 1.00
IGL03137:Pdcd6ip APN 9 113,486,213 (GRCm39) missense possibly damaging 0.69
IGL03246:Pdcd6ip APN 9 113,507,485 (GRCm39) missense possibly damaging 0.93
R0230:Pdcd6ip UTSW 9 113,514,361 (GRCm39) splice site probably benign
R0284:Pdcd6ip UTSW 9 113,491,572 (GRCm39) missense probably damaging 1.00
R0862:Pdcd6ip UTSW 9 113,503,578 (GRCm39) splice site probably benign
R0864:Pdcd6ip UTSW 9 113,503,578 (GRCm39) splice site probably benign
R1025:Pdcd6ip UTSW 9 113,491,354 (GRCm39) missense probably damaging 1.00
R1687:Pdcd6ip UTSW 9 113,529,087 (GRCm39) missense probably damaging 1.00
R1957:Pdcd6ip UTSW 9 113,537,090 (GRCm39) missense probably damaging 1.00
R2317:Pdcd6ip UTSW 9 113,501,842 (GRCm39) missense probably benign 0.03
R2698:Pdcd6ip UTSW 9 113,503,575 (GRCm39) splice site probably null
R4182:Pdcd6ip UTSW 9 113,529,078 (GRCm39) missense probably benign 0.00
R5154:Pdcd6ip UTSW 9 113,520,610 (GRCm39) missense probably damaging 1.00
R5229:Pdcd6ip UTSW 9 113,507,401 (GRCm39) missense probably damaging 0.99
R5391:Pdcd6ip UTSW 9 113,520,586 (GRCm39) missense probably damaging 1.00
R5972:Pdcd6ip UTSW 9 113,491,366 (GRCm39) missense probably benign 0.07
R6149:Pdcd6ip UTSW 9 113,488,939 (GRCm39) missense probably benign 0.03
R6406:Pdcd6ip UTSW 9 113,503,412 (GRCm39) missense possibly damaging 0.81
R6514:Pdcd6ip UTSW 9 113,518,762 (GRCm39) missense probably benign 0.43
R6869:Pdcd6ip UTSW 9 113,484,174 (GRCm39) missense unknown
R6888:Pdcd6ip UTSW 9 113,500,905 (GRCm39) missense probably benign 0.04
R7078:Pdcd6ip UTSW 9 113,488,953 (GRCm39) missense probably benign 0.01
R7683:Pdcd6ip UTSW 9 113,516,763 (GRCm39) missense probably damaging 1.00
R8260:Pdcd6ip UTSW 9 113,501,865 (GRCm39) missense probably benign 0.05
R8376:Pdcd6ip UTSW 9 113,518,684 (GRCm39) missense probably damaging 1.00
R8495:Pdcd6ip UTSW 9 113,518,775 (GRCm39) missense probably benign 0.23
R8926:Pdcd6ip UTSW 9 113,514,493 (GRCm39) missense probably benign 0.23
R9080:Pdcd6ip UTSW 9 113,520,624 (GRCm39) missense probably damaging 0.96
R9260:Pdcd6ip UTSW 9 113,526,572 (GRCm39) critical splice donor site probably null
R9315:Pdcd6ip UTSW 9 113,488,921 (GRCm39) missense possibly damaging 0.50
R9542:Pdcd6ip UTSW 9 113,520,589 (GRCm39) missense probably damaging 1.00
R9546:Pdcd6ip UTSW 9 113,484,174 (GRCm39) missense unknown
R9547:Pdcd6ip UTSW 9 113,484,174 (GRCm39) missense unknown
Z1177:Pdcd6ip UTSW 9 113,514,437 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- ACGTCTGCCTGGTATACATTTCCAAAC -3'
(R):5'- AAAGGGAAGCGGTTACTGCTCCTG -3'

Sequencing Primer
(F):5'- CTGGAGAACCTCTAAGTCAGTT -3'
(R):5'- TCCTGCCCATCAGCGTG -3'
Posted On 2014-05-14