Incidental Mutation 'R4914:Vps45'
ID 379786
Institutional Source Beutler Lab
Gene Symbol Vps45
Ensembl Gene ENSMUSG00000015747
Gene Name vacuolar protein sorting 45
Synonyms mVps45
MMRRC Submission 042516-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.892) question?
Stock # R4914 (G1)
Quality Score 210
Status Not validated
Chromosome 3
Chromosomal Location 95907144-95965778 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95926943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 535 (T535A)
Ref Sequence ENSEMBL: ENSMUSP00000015891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015891]
AlphaFold P97390
Predicted Effect probably damaging
Transcript: ENSMUST00000015891
AA Change: T535A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000015891
Gene: ENSMUSG00000015747
AA Change: T535A

DomainStartEndE-ValueType
Pfam:Sec1 23 546 3e-119 PFAM
Meta Mutation Damage Score 0.8814 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace G A 11: 105,870,423 (GRCm39) V281M probably damaging Het
Ap1b1 C T 11: 4,974,400 (GRCm39) T363I possibly damaging Het
Apobec2 T C 17: 48,730,153 (GRCm39) E171G probably benign Het
Arhgef1 T A 7: 24,623,264 (GRCm39) L436Q probably damaging Het
Atxn2 T A 5: 121,887,159 (GRCm39) D276E probably damaging Het
AU040320 A T 4: 126,729,469 (GRCm39) K544* probably null Het
Baz2b T A 2: 59,744,387 (GRCm39) T1373S possibly damaging Het
Bcas1 T C 2: 170,220,806 (GRCm39) D324G probably damaging Het
Bdp1 A G 13: 100,192,844 (GRCm39) V1330A probably benign Het
Bfsp1 C T 2: 143,669,391 (GRCm39) R396Q probably benign Het
Bpifb9b T A 2: 154,156,026 (GRCm39) probably null Het
Cabs1 T C 5: 88,128,296 (GRCm39) Y316H probably damaging Het
Carmil2 A G 8: 106,420,175 (GRCm39) K908E possibly damaging Het
Ccdc188 C A 16: 18,036,083 (GRCm39) P86Q probably benign Het
Cdh26 T C 2: 178,091,614 (GRCm39) S58P probably benign Het
Cemip2 G A 19: 21,786,653 (GRCm39) V472I probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dclk2 A T 3: 86,732,049 (GRCm39) probably null Het
Dennd5a A G 7: 109,500,296 (GRCm39) F943S probably damaging Het
Disp2 A T 2: 118,620,935 (GRCm39) S556C probably damaging Het
Dnai3 A G 3: 145,772,582 (GRCm39) I488T probably damaging Het
Dpp4 A T 2: 62,178,236 (GRCm39) M632K probably benign Het
E030030I06Rik G A 10: 21,990,197 (GRCm39) T192M possibly damaging Het
Ece2 C T 16: 20,462,820 (GRCm39) R582C probably damaging Het
Ehbp1 T C 11: 22,096,592 (GRCm39) D299G probably benign Het
Emc1 C T 4: 139,102,476 (GRCm39) R924* probably null Het
Etaa1 A T 11: 17,896,532 (GRCm39) S528R probably benign Het
Exoc2 A T 13: 31,060,796 (GRCm39) N569K probably benign Het
Fasn T G 11: 120,707,472 (GRCm39) N799T probably benign Het
Fbxo3 T G 2: 103,885,311 (GRCm39) N388K probably damaging Het
Fbxw16 C T 9: 109,267,245 (GRCm39) V329I probably benign Het
Fer1l4 T C 2: 155,873,220 (GRCm39) K1287E probably benign Het
Fermt1 A G 2: 132,748,760 (GRCm39) V621A probably damaging Het
Fnbp4 A G 2: 90,581,513 (GRCm39) T189A probably benign Het
Fut8 G T 12: 77,521,818 (GRCm39) A486S probably damaging Het
G6pd2 T A 5: 61,967,672 (GRCm39) Y482* probably null Het
Gfra1 A T 19: 58,255,522 (GRCm39) S308R probably damaging Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Gper1 A G 5: 139,412,623 (GRCm39) I323V probably benign Het
Grm5 C A 7: 87,779,337 (GRCm39) R958S probably benign Het
H2-DMb2 A G 17: 34,369,503 (GRCm39) T85A probably benign Het
Hgsnat A G 8: 26,454,866 (GRCm39) S220P probably damaging Het
Hspa12a A T 19: 58,787,884 (GRCm39) M646K probably damaging Het
Inpp5f A T 7: 128,286,840 (GRCm39) D573V probably damaging Het
Jmjd1c A G 10: 67,054,750 (GRCm39) N344D probably damaging Het
Kif1c A G 11: 70,599,681 (GRCm39) E471G probably damaging Het
Lalba T A 15: 98,380,061 (GRCm39) N63I probably benign Het
Mcoln1 T A 8: 3,557,483 (GRCm39) L163* probably null Het
Mllt1 T C 17: 57,206,813 (GRCm39) T344A probably benign Het
Mpzl2 T A 9: 44,955,146 (GRCm39) D114E probably benign Het
Myef2 T A 2: 124,951,659 (GRCm39) K259* probably null Het
Myh8 C A 11: 67,183,510 (GRCm39) D740E probably damaging Het
Myo1b A T 1: 51,863,367 (GRCm39) probably null Het
Nfix T C 8: 85,498,458 (GRCm39) I172V probably benign Het
Or1b1 A T 2: 36,995,170 (GRCm39) I164N possibly damaging Het
Or2h2 T C 17: 37,396,883 (GRCm39) Y58C probably damaging Het
Or2w1b A T 13: 21,300,567 (GRCm39) Q235L probably benign Het
Or3a1b A T 11: 74,012,705 (GRCm39) I197F probably benign Het
Or5b106 T A 19: 13,123,355 (GRCm39) I223L possibly damaging Het
Orc1 T C 4: 108,461,755 (GRCm39) F584S probably damaging Het
Osgin1 C A 8: 120,169,283 (GRCm39) A60D possibly damaging Het
Pde4dip C A 3: 97,622,644 (GRCm39) V1522L probably benign Het
Phactr1 A G 13: 43,287,439 (GRCm39) T556A possibly damaging Het
Ppfia2 G C 10: 106,597,978 (GRCm39) L180F probably damaging Het
Ppm1k T A 6: 57,487,762 (GRCm39) N354Y probably damaging Het
Ppp1r1a A G 15: 103,446,265 (GRCm39) V14A probably damaging Het
Prkcd A T 14: 30,327,395 (GRCm39) probably null Het
Ranbp17 T C 11: 33,163,425 (GRCm39) S1082G probably benign Het
Rere T A 4: 150,703,601 (GRCm39) W1528R probably damaging Het
Rnf103 T A 6: 71,487,248 (GRCm39) F626L possibly damaging Het
Rsrc2 A G 5: 123,877,613 (GRCm39) probably benign Het
Scin T A 12: 40,119,373 (GRCm39) I552F possibly damaging Het
Scn3a T C 2: 65,291,799 (GRCm39) N1649S probably damaging Het
Slain2 T A 5: 73,115,609 (GRCm39) M448K probably benign Het
Slc25a54 T C 3: 109,018,395 (GRCm39) F292L probably benign Het
Slc4a1 A G 11: 102,243,279 (GRCm39) V784A probably damaging Het
Slco1b2 G A 6: 141,615,096 (GRCm39) V334I probably benign Het
Slf2 T G 19: 44,960,100 (GRCm39) D1022E probably damaging Het
Smg8 T C 11: 86,971,536 (GRCm39) E745G probably damaging Het
Smyd1 T G 6: 71,196,321 (GRCm39) I322L probably benign Het
Snx13 G A 12: 35,182,032 (GRCm39) V694I possibly damaging Het
Sox6 T C 7: 115,076,199 (GRCm39) D814G probably damaging Het
Spag6 A T 2: 18,750,360 (GRCm39) I469F probably benign Het
Spsb2 A C 6: 124,786,711 (GRCm39) E148A probably benign Het
Srprb C A 9: 103,079,147 (GRCm39) V747L possibly damaging Het
Stam A G 2: 14,107,227 (GRCm39) E16G probably damaging Het
Taar5 A T 10: 23,847,468 (GRCm39) I289F possibly damaging Het
Tgif1 C T 17: 71,152,242 (GRCm39) R70H probably damaging Het
Top2a A T 11: 98,893,786 (GRCm39) L1036H probably damaging Het
Tph1 T A 7: 46,303,283 (GRCm39) I232F probably damaging Het
Ttn T C 2: 76,577,175 (GRCm39) T24573A probably damaging Het
Tub C T 7: 108,620,161 (GRCm39) R102* probably null Het
Ube2n T A 10: 95,377,607 (GRCm39) W129R possibly damaging Het
Usp8 A T 2: 126,562,060 (GRCm39) K85* probably null Het
Vmn2r81 A T 10: 79,106,357 (GRCm39) K445M probably null Het
Zfp1007 A G 5: 109,826,396 (GRCm39) S59P probably damaging Het
Zfp157 T C 5: 138,454,557 (GRCm39) S252P possibly damaging Het
Zfp605 T A 5: 110,275,567 (GRCm39) C228* probably null Het
Zfp791 T A 8: 85,837,580 (GRCm39) I95L probably benign Het
Other mutations in Vps45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Vps45 APN 3 95,907,378 (GRCm39) makesense probably null
IGL00848:Vps45 APN 3 95,964,285 (GRCm39) splice site probably benign
IGL00915:Vps45 APN 3 95,953,662 (GRCm39) critical splice donor site probably null
IGL02143:Vps45 APN 3 95,926,958 (GRCm39) missense probably benign 0.00
IGL02143:Vps45 APN 3 95,941,133 (GRCm39) missense probably benign
IGL02247:Vps45 APN 3 95,950,236 (GRCm39) missense probably damaging 1.00
IGL02598:Vps45 APN 3 95,938,354 (GRCm39) missense probably benign 0.03
IGL03409:Vps45 APN 3 95,960,401 (GRCm39) missense probably benign 0.00
R0943:Vps45 UTSW 3 95,964,336 (GRCm39) missense probably benign 0.02
R1102:Vps45 UTSW 3 95,950,253 (GRCm39) splice site probably benign
R1540:Vps45 UTSW 3 95,955,658 (GRCm39) missense probably damaging 1.00
R1829:Vps45 UTSW 3 95,954,557 (GRCm39) critical splice donor site probably null
R1919:Vps45 UTSW 3 95,953,752 (GRCm39) missense probably benign 0.00
R2113:Vps45 UTSW 3 95,954,365 (GRCm39) missense probably benign 0.05
R2251:Vps45 UTSW 3 95,964,352 (GRCm39) missense probably benign 0.00
R2511:Vps45 UTSW 3 95,948,757 (GRCm39) missense probably benign 0.01
R4752:Vps45 UTSW 3 95,955,699 (GRCm39) missense possibly damaging 0.88
R4806:Vps45 UTSW 3 95,953,725 (GRCm39) missense probably benign 0.01
R4915:Vps45 UTSW 3 95,926,943 (GRCm39) missense probably damaging 0.98
R4917:Vps45 UTSW 3 95,926,943 (GRCm39) missense probably damaging 0.98
R5180:Vps45 UTSW 3 95,953,683 (GRCm39) missense possibly damaging 0.94
R5288:Vps45 UTSW 3 95,965,086 (GRCm39) start codon destroyed probably null 1.00
R5454:Vps45 UTSW 3 95,926,969 (GRCm39) missense probably benign 0.21
R6397:Vps45 UTSW 3 95,950,164 (GRCm39) missense probably benign 0.13
R7247:Vps45 UTSW 3 95,948,717 (GRCm39) missense probably benign 0.02
R7449:Vps45 UTSW 3 95,954,448 (GRCm39) critical splice acceptor site probably null
R7460:Vps45 UTSW 3 95,955,699 (GRCm39) missense probably benign 0.00
R7795:Vps45 UTSW 3 95,926,936 (GRCm39) missense probably benign 0.13
R8462:Vps45 UTSW 3 95,941,091 (GRCm39) missense possibly damaging 0.62
R8490:Vps45 UTSW 3 95,948,661 (GRCm39) missense probably benign
R9076:Vps45 UTSW 3 95,960,345 (GRCm39) splice site probably benign
R9081:Vps45 UTSW 3 95,940,125 (GRCm39) missense probably benign 0.24
R9358:Vps45 UTSW 3 95,940,976 (GRCm39) critical splice donor site probably null
R9475:Vps45 UTSW 3 95,950,237 (GRCm39) missense probably damaging 1.00
R9608:Vps45 UTSW 3 95,940,982 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TTGCTAGCAATTCGCCATGG -3'
(R):5'- GGACCTGAGAAATTGAAACTGTGTG -3'

Sequencing Primer
(F):5'- TAGCAATTCGCCATGGCCATG -3'
(R):5'- ATCTTTTATTTGTCGCTAAAAGCCC -3'
Posted On 2016-04-15