Incidental Mutation 'R8376:Pdcd6ip'
ID 646690
Institutional Source Beutler Lab
Gene Symbol Pdcd6ip
Ensembl Gene ENSMUSG00000032504
Gene Name programmed cell death 6 interacting protein
Synonyms AIP1, Alix
MMRRC Submission 067744-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8376 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 113480812-113537327 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113518684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 192 (L192Q)
Ref Sequence ENSEMBL: ENSMUSP00000107492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035086] [ENSMUST00000111861]
AlphaFold Q9WU78
Predicted Effect probably damaging
Transcript: ENSMUST00000035086
AA Change: L192Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035086
Gene: ENSMUSG00000032504
AA Change: L192Q

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 damaging
Transcript: ENSMUST00000111861
AA Change: L192Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107492
Gene: ENSMUSG00000032504
AA Change: L192Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A C 8: 25,409,936 (GRCm39) I173S possibly damaging Het
Ahctf1 T C 1: 179,610,520 (GRCm39) D599G probably damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Ankrd40 G T 11: 94,225,662 (GRCm39) G231V probably damaging Het
Apba2 T A 7: 64,345,341 (GRCm39) V177D probably benign Het
Atp12a G T 14: 56,612,083 (GRCm39) probably null Het
Birc6 C T 17: 74,896,635 (GRCm39) T1027M probably benign Het
Bmpr2 G A 1: 59,906,515 (GRCm39) R536H probably damaging Het
Brms1l C A 12: 55,888,414 (GRCm39) N67K probably benign Het
Cachd1 G A 4: 100,832,073 (GRCm39) R745H probably damaging Het
Cacnb4 G A 2: 52,354,665 (GRCm39) Q238* probably null Het
Cdc42 G A 4: 137,056,205 (GRCm39) T102I probably benign Het
Cfhr1 A C 1: 139,475,549 (GRCm39) C307W unknown Het
Ddb1 G A 19: 10,596,669 (GRCm39) V463M probably damaging Het
Dhx30 G A 9: 109,917,707 (GRCm39) R365C probably benign Het
Dnah1 A G 14: 31,023,303 (GRCm39) F1005L probably damaging Het
Elp4 A G 2: 105,672,653 (GRCm39) V144A probably benign Het
Enpp2 T A 15: 54,773,491 (GRCm39) N77Y probably damaging Het
Fsip1 C T 2: 118,063,519 (GRCm39) V317I possibly damaging Het
Gc G A 5: 89,586,118 (GRCm39) Q341* probably null Het
Gpt2 A T 8: 86,219,694 (GRCm39) I47F probably benign Het
Ino80 A T 2: 119,272,968 (GRCm39) S503T probably benign Het
Kcnn4 C A 7: 24,077,051 (GRCm39) T200K possibly damaging Het
Krtap4-7 A G 11: 99,534,753 (GRCm39) S37P unknown Het
Lrrc4b T C 7: 44,112,018 (GRCm39) V630A probably benign Het
Man2a2 C T 7: 80,010,671 (GRCm39) W773* probably null Het
Mgrn1 T A 16: 4,733,630 (GRCm39) L192Q probably damaging Het
Mtx1 A G 3: 89,121,478 (GRCm39) V52A probably benign Het
Myc A T 15: 61,859,395 (GRCm39) N24Y possibly damaging Het
Nbea G A 3: 55,551,076 (GRCm39) S2696L possibly damaging Het
Nox4 A G 7: 87,023,592 (GRCm39) N493D probably damaging Het
Or52w1 C A 7: 105,017,847 (GRCm39) P105T probably benign Het
Osbpl10 G A 9: 115,052,661 (GRCm39) G403D probably damaging Het
Pde3a A G 6: 141,426,947 (GRCm39) I703V possibly damaging Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pkd1l3 CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA 8: 110,350,420 (GRCm39) probably benign Het
Plcb3 A G 19: 6,944,071 (GRCm39) S36P probably damaging Het
Plk5 T C 10: 80,196,179 (GRCm39) F279L probably damaging Het
Prl7a1 T G 13: 27,821,638 (GRCm39) E99D probably benign Het
Rnf4 C T 5: 34,508,701 (GRCm39) R188W probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGAGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Scel A G 14: 103,809,451 (GRCm39) S264G probably benign Het
Sdk1 A G 5: 142,144,376 (GRCm39) Q1712R possibly damaging Het
Slc15a1 A G 14: 121,718,115 (GRCm39) Y255H probably benign Het
Syne1 C T 10: 4,993,615 (GRCm39) G525D probably benign Het
Taldo1 T C 7: 140,981,788 (GRCm39) V214A probably damaging Het
Tbc1d12 A G 19: 38,889,853 (GRCm39) T428A probably damaging Het
Tlr6 T C 5: 65,112,455 (GRCm39) K151E probably benign Het
Ubr2 T A 17: 47,253,721 (GRCm39) D1468V probably benign Het
Ubtf A C 11: 102,199,737 (GRCm39) Y463D probably damaging Het
Uroc1 A T 6: 90,314,697 (GRCm39) M106L probably damaging Het
Vmn1r55 T A 7: 5,149,869 (GRCm39) I185L probably benign Het
Vmn2r93 T A 17: 18,525,230 (GRCm39) V296D probably damaging Het
Zfp65 A C 13: 67,857,037 (GRCm39) Y81D probably damaging Het
Zw10 A T 9: 48,988,783 (GRCm39) Y683F possibly damaging 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
R1699:Pdcd6ip UTSW 9 113,507,422 (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
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'- ACTGCCACAGGAAGCTTTC -3'
(R):5'- ACCATCTTTTCAGTTGGCATG -3'

Sequencing Primer
(F):5'- GCGTAACTCTCCTTCTGAAGTGAG -3'
(R):5'- CCATCTTTTCAGTTGGCATGTAGAAG -3'
Posted On 2020-09-02