Incidental Mutation 'R3752:Vps35'
ID 271262
Institutional Source Beutler Lab
Gene Symbol Vps35
Ensembl Gene ENSMUSG00000031696
Gene Name VPS35 retromer complex component
Synonyms Mem3
MMRRC Submission 040737-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3752 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 85987014-86026146 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86001460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 453 (S453P)
Ref Sequence ENSEMBL: ENSMUSP00000034131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034131]
AlphaFold Q9EQH3
Predicted Effect probably benign
Transcript: ENSMUST00000034131
AA Change: S453P

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034131
Gene: ENSMUSG00000031696
AA Change: S453P

DomainStartEndE-ValueType
Pfam:Vps35 15 753 6.8e-303 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209277
Meta Mutation Damage Score 0.0654 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (49/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to E10. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,588,904 (GRCm39) I107N probably damaging Het
Adh1 G A 3: 137,994,555 (GRCm39) V292I probably benign Het
Brd1 C T 15: 88,573,821 (GRCm39) V1093I possibly damaging Het
Cep170 A G 1: 176,610,061 (GRCm39) probably benign Het
Col4a4 G A 1: 82,458,215 (GRCm39) P1120S probably damaging Het
Cramp1 A T 17: 25,190,532 (GRCm39) N1067K probably damaging Het
Dhrs7c A G 11: 67,702,281 (GRCm39) T90A probably damaging Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Eml6 C A 11: 29,759,360 (GRCm39) V798F probably benign Het
Ext1 A T 15: 52,939,306 (GRCm39) V581E probably damaging Het
Fbf1 C T 11: 116,038,622 (GRCm39) R833Q probably benign Het
Fbln1 T A 15: 85,111,279 (GRCm39) C144* probably null Het
Gm10521 A G 1: 171,723,712 (GRCm39) T8A unknown Het
Hapln4 A T 8: 70,539,615 (GRCm39) L215F probably damaging Het
Hmgcr T C 13: 96,799,624 (GRCm39) I157V probably damaging Het
Irak4 T C 15: 94,459,476 (GRCm39) I364T probably damaging Het
Lama3 T A 18: 12,640,086 (GRCm39) C1700S probably damaging Het
Lama5 C T 2: 179,829,015 (GRCm39) C2042Y probably damaging Het
Lrrc9 T G 12: 72,507,580 (GRCm39) Y360* probably null Het
Lrrd1 T A 5: 3,900,282 (GRCm39) S196T probably benign Het
Mdc1 C T 17: 36,156,821 (GRCm39) A76V probably damaging Het
Mei1 C T 15: 81,970,383 (GRCm39) T428M probably damaging Het
Mib2 A G 4: 155,739,741 (GRCm39) F810S probably damaging Het
Nobox T G 6: 43,284,167 (GRCm39) K126N probably damaging Het
Ogn C T 13: 49,776,307 (GRCm39) L249F probably benign Het
Or10ag59 A G 2: 87,406,057 (GRCm39) I210V probably benign Het
Or6a2 A T 7: 106,600,682 (GRCm39) Y128* probably null Het
Paqr8 A G 1: 21,005,856 (GRCm39) T337A probably benign Het
Pcdhb15 T A 18: 37,606,810 (GRCm39) V14E probably damaging Het
Perm1 A T 4: 156,302,403 (GRCm39) I316L probably benign Het
Plxnb2 G A 15: 89,041,458 (GRCm39) probably benign Het
Rab3il1 A T 19: 10,007,841 (GRCm39) T227S probably benign Het
Rag2 A T 2: 101,461,121 (GRCm39) Y477F probably damaging Het
Ralgapa2 A T 2: 146,263,551 (GRCm39) V722E possibly damaging Het
Rbp3 A T 14: 33,677,969 (GRCm39) E639V probably damaging Het
Sh2b1 A G 7: 126,067,959 (GRCm39) V565A probably damaging Het
Skint6 T C 4: 112,700,096 (GRCm39) probably benign Het
Slc47a1 C T 11: 61,235,207 (GRCm39) R542Q possibly damaging Het
Slc6a5 T C 7: 49,586,062 (GRCm39) probably null Het
Slc9a8 C A 2: 167,299,272 (GRCm39) H215N probably benign Het
Slit1 C T 19: 41,635,406 (GRCm39) probably null Het
Snx1 A T 9: 66,012,933 (GRCm39) probably null Het
Tbc1d30 T A 10: 121,108,073 (GRCm39) N443I probably damaging Het
Tex15 T A 8: 34,061,443 (GRCm39) M565K probably benign Het
Traf3ip1 T C 1: 91,428,639 (GRCm39) probably benign Het
Traf3ip1 A G 1: 91,446,019 (GRCm39) D384G probably damaging Het
Vldlr G A 19: 27,215,731 (GRCm39) E243K probably damaging Het
Zfp644 A G 5: 106,784,249 (GRCm39) V766A probably benign Het
Other mutations in Vps35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01745:Vps35 APN 8 86,000,092 (GRCm39) splice site probably benign
IGL02604:Vps35 APN 8 86,013,018 (GRCm39) missense probably damaging 1.00
IGL03278:Vps35 APN 8 86,021,590 (GRCm39) unclassified probably benign
IGL03326:Vps35 APN 8 86,001,526 (GRCm39) nonsense probably null
PIT4151001:Vps35 UTSW 8 86,010,677 (GRCm39) missense possibly damaging 0.95
R0118:Vps35 UTSW 8 86,021,582 (GRCm39) missense probably benign 0.04
R0226:Vps35 UTSW 8 86,000,204 (GRCm39) missense probably damaging 0.97
R1079:Vps35 UTSW 8 86,005,683 (GRCm39) missense probably damaging 1.00
R1477:Vps35 UTSW 8 86,014,429 (GRCm39) missense probably damaging 1.00
R1969:Vps35 UTSW 8 86,005,623 (GRCm39) missense possibly damaging 0.90
R2082:Vps35 UTSW 8 85,990,094 (GRCm39) missense possibly damaging 0.95
R2156:Vps35 UTSW 8 86,013,129 (GRCm39) missense probably benign 0.06
R2341:Vps35 UTSW 8 86,001,443 (GRCm39) splice site probably benign
R4589:Vps35 UTSW 8 86,014,331 (GRCm39) missense probably damaging 1.00
R4745:Vps35 UTSW 8 85,987,891 (GRCm39) missense probably benign
R4790:Vps35 UTSW 8 86,005,486 (GRCm39) splice site probably null
R4827:Vps35 UTSW 8 86,000,186 (GRCm39) missense possibly damaging 0.94
R4953:Vps35 UTSW 8 86,008,475 (GRCm39) missense probably damaging 1.00
R6277:Vps35 UTSW 8 85,987,857 (GRCm39) missense possibly damaging 0.80
R6291:Vps35 UTSW 8 86,026,086 (GRCm39) start codon destroyed probably benign 0.07
R6434:Vps35 UTSW 8 86,000,124 (GRCm39) missense possibly damaging 0.53
R7175:Vps35 UTSW 8 85,990,189 (GRCm39) splice site probably null
R7206:Vps35 UTSW 8 86,014,350 (GRCm39) missense probably damaging 1.00
R7309:Vps35 UTSW 8 86,001,596 (GRCm39) missense probably benign 0.05
R7479:Vps35 UTSW 8 85,997,434 (GRCm39) missense probably benign 0.17
R7547:Vps35 UTSW 8 85,989,999 (GRCm39) missense probably damaging 1.00
R7761:Vps35 UTSW 8 86,010,707 (GRCm39) missense possibly damaging 0.91
R7812:Vps35 UTSW 8 86,010,818 (GRCm39) missense probably benign 0.01
R8312:Vps35 UTSW 8 86,001,498 (GRCm39) missense possibly damaging 0.65
R8356:Vps35 UTSW 8 85,987,934 (GRCm39) missense possibly damaging 0.63
R8403:Vps35 UTSW 8 86,001,487 (GRCm39) missense probably benign
R8456:Vps35 UTSW 8 85,987,934 (GRCm39) missense possibly damaging 0.63
R9189:Vps35 UTSW 8 86,007,898 (GRCm39) missense possibly damaging 0.67
R9615:Vps35 UTSW 8 86,010,633 (GRCm39) missense probably benign 0.00
X0020:Vps35 UTSW 8 85,990,050 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTAATCAACTGTGGTGAAATCAGAGG -3'
(R):5'- TGCAGTTTCAAAGGAGCTTACC -3'

Sequencing Primer
(F):5'- CTCCTTCATTTATAACCAGTGTC -3'
(R):5'- AGGAGCTTACCAGACTTTTGAAG -3'
Posted On 2015-03-18