Incidental Mutation 'R7683:Pdcd6ip'
ID 592880
Institutional Source Beutler Lab
Gene Symbol Pdcd6ip
Ensembl Gene ENSMUSG00000032504
Gene Name programmed cell death 6 interacting protein
Synonyms AIP1, Alix
MMRRC Submission 045749-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7683 (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 113516763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 216 (L216Q)
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: L216Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035086
Gene: ENSMUSG00000032504
AA Change: L216Q

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: L216Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107492
Gene: ENSMUSG00000032504
AA Change: L216Q

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: 99.7%
  • 20x: 99.0%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 A G 13: 59,660,312 (GRCm39) C305R probably damaging Het
Anpep C A 7: 79,488,946 (GRCm39) V381L probably damaging Het
Ap5s1 T C 2: 131,054,627 (GRCm39) L146P probably damaging Het
Arhgef11 A G 3: 87,629,690 (GRCm39) I599V probably damaging Het
Arpc2 T C 1: 74,302,973 (GRCm39) Y250H probably damaging Het
Baz1b T A 5: 135,246,582 (GRCm39) M677K probably damaging Het
Begain C T 12: 108,999,413 (GRCm39) A453T unknown Het
C1ql4 T C 15: 98,985,092 (GRCm39) D173G probably benign Het
Card11 T G 5: 140,881,781 (GRCm39) N461T probably benign Het
Ccdc9 T C 7: 16,018,287 (GRCm39) D7G probably damaging Het
Ces2a T C 8: 105,463,744 (GRCm39) V152A probably benign Het
Chl1 G A 6: 103,668,613 (GRCm39) A449T possibly damaging Het
Col11a1 G T 3: 113,907,385 (GRCm39) G638W unknown Het
Cse1l A T 2: 166,764,708 (GRCm39) T171S probably benign Het
D2hgdh T A 1: 93,766,687 (GRCm39) probably null Het
Dlg4 T C 11: 69,930,680 (GRCm39) Y432H possibly damaging Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
F11 T A 8: 45,702,545 (GRCm39) Q251L probably damaging Het
Gtf2f1 T A 17: 57,312,458 (GRCm39) E195V possibly damaging Het
Hap1 A T 11: 100,242,374 (GRCm39) L376Q probably damaging Het
Hars2 T A 18: 36,921,289 (GRCm39) I234N probably damaging Het
Hcfc2 T C 10: 82,535,063 (GRCm39) V29A probably benign Het
Hp C T 8: 110,305,731 (GRCm39) probably benign Het
Hrh1 T C 6: 114,456,748 (GRCm39) S10P probably benign Het
Kcnmb2 A G 3: 32,252,465 (GRCm39) Y222C probably damaging Het
Kdm3a A G 6: 71,576,438 (GRCm39) V792A probably benign Het
Kif13b G A 14: 64,994,956 (GRCm39) V903I probably benign Het
Lars2 G T 9: 123,206,895 (GRCm39) probably null Het
Med7 A G 11: 46,331,687 (GRCm39) D94G possibly damaging Het
Mier3 A G 13: 111,841,846 (GRCm39) T136A probably benign Het
Nin T C 12: 70,124,956 (GRCm39) E122G Het
Or5h18 G T 16: 58,847,469 (GRCm39) T267K probably benign Het
Or6k14 A G 1: 173,927,042 (GRCm39) Q6R probably benign Het
Oxsr1 T C 9: 119,070,821 (GRCm39) I489V probably benign Het
Ppp4r4 T A 12: 103,553,364 (GRCm39) C379* probably null Het
Pramel24 A T 4: 143,453,284 (GRCm39) K131* probably null Het
Ptpn13 T A 5: 103,713,018 (GRCm39) C1714S probably benign Het
Pum2 G A 12: 8,778,922 (GRCm39) R498Q possibly damaging Het
Sema3d T A 5: 12,623,823 (GRCm39) Y577* probably null Het
Slc29a3 G A 10: 60,552,145 (GRCm39) P300S not run Het
Slc5a4b A G 10: 75,899,906 (GRCm39) V444A probably damaging Het
Smad9 A G 3: 54,696,685 (GRCm39) E250G probably damaging Het
Srsf7 A G 17: 80,514,703 (GRCm39) probably benign Het
Thsd7b A G 1: 129,523,683 (GRCm39) Y239C probably damaging Het
Triml2 C A 8: 43,638,325 (GRCm39) Q98K probably damaging Het
Txndc11 A T 16: 10,902,099 (GRCm39) L705Q probably damaging Het
Vmn1r22 A G 6: 57,877,404 (GRCm39) M191T probably damaging Het
Vmn2r89 A T 14: 51,692,651 (GRCm39) K151N probably benign Het
Vwa5a A G 9: 38,646,125 (GRCm39) I498V probably damaging Het
Zfp459 T C 13: 67,556,615 (GRCm39) H156R probably damaging Het
Zscan18 T A 7: 12,503,532 (GRCm39) K676* probably null 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
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'- CCAGAAAGAGTTTCAGCTCAGG -3'
(R):5'- TGTGCCACGTCATGTATCGG -3'

Sequencing Primer
(F):5'- GTTTCAGCTCAGGAAAAGAAGTTC -3'
(R):5'- CCACGTCATGTATCGGGTTATGTC -3'
Posted On 2019-11-12