Incidental Mutation 'R7795:Vps45'
ID 600162
Institutional Source Beutler Lab
Gene Symbol Vps45
Ensembl Gene ENSMUSG00000015747
Gene Name vacuolar protein sorting 45
Synonyms mVps45
MMRRC Submission 045851-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.892) question?
Stock # R7795 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 95907144-95965778 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95926936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 537 (I537T)
Ref Sequence ENSEMBL: ENSMUSP00000015891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015891]
AlphaFold P97390
Predicted Effect probably benign
Transcript: ENSMUST00000015891
AA Change: I537T

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000015891
Gene: ENSMUSG00000015747
AA Change: I537T

DomainStartEndE-ValueType
Pfam:Sec1 23 546 3e-119 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankle1 T C 8: 71,861,337 (GRCm39) S391P probably damaging Het
Ankmy1 T C 1: 92,811,570 (GRCm39) Q606R probably benign Het
Bmf A G 2: 118,377,358 (GRCm39) L130P probably damaging Het
Ccdc88c G A 12: 100,889,570 (GRCm39) T1491I probably benign Het
Cyp2c69 G A 19: 39,864,663 (GRCm39) R272C probably benign Het
Defa27 A G 8: 21,806,354 (GRCm39) N78S probably benign Het
Depdc5 T A 5: 33,101,447 (GRCm39) D912E probably damaging Het
Dsc3 C T 18: 20,099,288 (GRCm39) D743N probably damaging Het
Epcam T C 17: 87,950,983 (GRCm39) V190A probably benign Het
Exoc2 G A 13: 31,060,756 (GRCm39) R583* probably null Het
Extl1 T A 4: 134,091,990 (GRCm39) I288F probably damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fcer2a T A 8: 3,732,910 (GRCm39) Y299F probably benign Het
Frmd4a G A 2: 4,595,506 (GRCm39) G439R probably damaging Het
Gal3st4 T C 5: 138,269,100 (GRCm39) H120R probably benign Het
Grid1 C A 14: 35,043,642 (GRCm39) N332K probably damaging Het
Igkv4-68 A G 6: 69,281,896 (GRCm39) Y92H probably damaging Het
Itga1 T C 13: 115,148,772 (GRCm39) E283G probably damaging Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Lrrc24 A G 15: 76,602,248 (GRCm39) L169P probably benign Het
Mcidas G A 13: 113,135,521 (GRCm39) G315S probably damaging Het
Mettl8 T C 2: 70,812,243 (GRCm39) T131A probably benign Het
Miip C T 4: 147,947,375 (GRCm39) G236S probably benign Het
Nbr1 T A 11: 101,460,154 (GRCm39) D383E probably damaging Het
Neto1 A T 18: 86,479,198 (GRCm39) K167N probably benign Het
Nkx6-1 A T 5: 101,811,628 (GRCm39) L158Q unknown Het
Nlrp5 G A 7: 23,118,219 (GRCm39) V648M possibly damaging Het
Nvl G T 1: 180,924,722 (GRCm39) Q811K probably benign Het
Or13a21 A G 7: 139,999,027 (GRCm39) F220L possibly damaging Het
Or13p3 C A 4: 118,566,855 (GRCm39) H84N possibly damaging Het
Or1j10 A G 2: 36,267,453 (GRCm39) T222A probably benign Het
Or3a1c T A 11: 74,046,844 (GRCm39) L288Q probably damaging Het
Pccb T C 9: 100,881,316 (GRCm39) Y224C probably damaging Het
Pcdh10 T C 3: 45,334,657 (GRCm39) Y324H probably benign Het
Pecam1 C A 11: 106,586,658 (GRCm39) E286* probably null Het
Prl7d1 A T 13: 27,893,263 (GRCm39) L215Q probably damaging Het
Ranbp2 T A 10: 58,319,729 (GRCm39) Y2514* probably null Het
Rgs11 A G 17: 26,426,552 (GRCm39) H261R possibly damaging Het
Samd15 A G 12: 87,247,506 (GRCm39) T64A probably benign Het
Shc4 T A 2: 125,565,285 (GRCm39) S5C probably damaging Het
Shroom3 G A 5: 93,067,508 (GRCm39) V109M probably damaging Het
Spata13 T C 14: 60,929,291 (GRCm39) I283T possibly damaging Het
Sptbn2 C G 19: 4,799,040 (GRCm39) R2037G probably benign Het
Synj2bp G A 12: 81,548,922 (GRCm39) P106S probably benign Het
Tasor T C 14: 27,203,340 (GRCm39) S289P Het
Thoc1 T C 18: 9,986,300 (GRCm39) V344A probably damaging Het
Vmn1r71 A G 7: 10,482,136 (GRCm39) L184S probably damaging 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
R4914:Vps45 UTSW 3 95,926,943 (GRCm39) missense probably damaging 0.98
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
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'- ATTTGTCGCTAAAAGCCCCC -3'
Posted On 2019-11-26