Incidental Mutation 'R1540:Vps45'
ID 171639
Institutional Source Beutler Lab
Gene Symbol Vps45
Ensembl Gene ENSMUSG00000015747
Gene Name vacuolar protein sorting 45
Synonyms mVps45
MMRRC Submission 039579-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.892) question?
Stock # R1540 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 95907144-95965778 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 95955658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 111 (A111T)
Ref Sequence ENSEMBL: ENSMUSP00000015891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015891]
AlphaFold P97390
Predicted Effect probably damaging
Transcript: ENSMUST00000015891
AA Change: A111T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015891
Gene: ENSMUSG00000015747
AA Change: A111T

DomainStartEndE-ValueType
Pfam:Sec1 23 546 3e-119 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131281
Meta Mutation Damage Score 0.4303 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 96% (72/75)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,574,384 (GRCm39) C767R probably benign Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Ap3d1 A T 10: 80,551,775 (GRCm39) I644N probably benign Het
Asb16 A G 11: 102,163,402 (GRCm39) I131V probably benign Het
Atp6v0a2 C A 5: 124,784,638 (GRCm39) A307D probably damaging Het
C1qtnf1 C T 11: 118,338,749 (GRCm39) H140Y probably benign Het
Cacna1g T A 11: 94,347,865 (GRCm39) D741V probably damaging Het
Caprin2 T A 6: 148,777,969 (GRCm39) T211S probably benign Het
Carmil1 T C 13: 24,283,037 (GRCm39) E89G possibly damaging Het
Casz1 T A 4: 149,027,357 (GRCm39) probably benign Het
Catsperb G A 12: 101,378,589 (GRCm39) R30Q probably benign Het
Ccdc102a A T 8: 95,634,341 (GRCm39) probably null Het
Ccdc110 G T 8: 46,395,362 (GRCm39) E418* probably null Het
Ccdc90b C T 7: 92,231,024 (GRCm39) A210V probably benign Het
Cdadc1 G T 14: 59,823,532 (GRCm39) A320E probably damaging Het
Cdadc1 T A 14: 59,823,541 (GRCm39) Q317L probably damaging Het
Cep170 C A 1: 176,567,498 (GRCm39) W1396L probably damaging Het
Col4a6 T C X: 140,010,854 (GRCm39) T129A probably damaging Het
Ctcfl C T 2: 172,954,141 (GRCm39) D319N probably benign Het
Dclk1 T C 3: 55,385,244 (GRCm39) S45P probably damaging Het
Efcab3 T C 11: 104,999,726 (GRCm39) I5581T probably benign Het
Evi2 T C 11: 79,406,412 (GRCm39) I388V probably benign Het
Fbxl5 A T 5: 43,915,978 (GRCm39) V435E possibly damaging Het
Fig4 A T 10: 41,064,582 (GRCm39) M887K possibly damaging Het
Glt8d1 G A 14: 30,733,549 (GRCm39) V345I probably benign Het
Gm5709 T C 3: 59,526,073 (GRCm39) noncoding transcript Het
Hsp90b1 A G 10: 86,529,906 (GRCm39) F264L probably damaging Het
Id3 A G 4: 135,871,250 (GRCm39) S21G possibly damaging Het
Ighe T A 12: 113,235,066 (GRCm39) N365Y unknown Het
Il17rd T G 14: 26,821,915 (GRCm39) M403R probably damaging Het
Ints10 A G 8: 69,249,365 (GRCm39) probably benign Het
Kcnc4 T A 3: 107,352,743 (GRCm39) probably null Het
Kctd19 A G 8: 106,114,511 (GRCm39) S517P probably damaging Het
Lama5 A G 2: 179,821,944 (GRCm39) F2964L probably benign Het
Lin54 A T 5: 100,628,109 (GRCm39) N31K probably damaging Het
Lrrc8e A G 8: 4,284,990 (GRCm39) K405R probably benign Het
Lyst T A 13: 13,809,686 (GRCm39) M452K possibly damaging Het
Mroh7 A G 4: 106,560,273 (GRCm39) L677P probably benign Het
Mrps27 T A 13: 99,541,558 (GRCm39) F221I probably benign Het
Nhlrc1 C T 13: 47,167,820 (GRCm39) V146M probably damaging Het
Nlrp9b T A 7: 19,782,772 (GRCm39) C895* probably null Het
Nod1 T C 6: 54,920,960 (GRCm39) T453A probably benign Het
Nodal T C 10: 61,258,764 (GRCm39) V67A probably damaging Het
Ntsr1 T C 2: 180,184,440 (GRCm39) L381P probably damaging Het
Or13c25 T C 4: 52,910,996 (GRCm39) D266G probably benign Het
Or2b2b T A 13: 21,858,700 (GRCm39) Q138L probably benign Het
Or9e1 T A 11: 58,732,477 (GRCm39) M179K probably benign Het
P2ry14 T A 3: 59,022,686 (GRCm39) K267M probably benign Het
Pcdh1 T C 18: 38,322,779 (GRCm39) N1018S probably benign Het
Pkn3 G A 2: 29,974,703 (GRCm39) V406I probably damaging Het
Prkcb C T 7: 122,226,916 (GRCm39) T634I probably damaging Het
Psme2b T A 11: 48,836,209 (GRCm39) probably null Het
Ptgfrn A G 3: 100,967,970 (GRCm39) I541T probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ralgapb T C 2: 158,307,746 (GRCm39) V684A probably benign Het
Rbbp5 C T 1: 132,422,020 (GRCm39) R307* probably null Het
Rcor1 T A 12: 111,070,037 (GRCm39) probably benign Het
Rlbp1 C T 7: 79,029,808 (GRCm39) A142T probably damaging Het
Rps6ka2 A G 17: 7,560,305 (GRCm39) E581G probably null Het
Sars1 A T 3: 108,340,461 (GRCm39) V155E probably benign Het
Sec31a G C 5: 100,523,178 (GRCm39) P569A probably damaging Het
Selenof A T 3: 144,300,685 (GRCm39) K111* probably null Het
Serpinb7 C T 1: 107,355,998 (GRCm39) A7V possibly damaging Het
Smc4 T A 3: 68,924,105 (GRCm39) Y298N probably damaging Het
Snrpa1 T A 7: 65,720,409 (GRCm39) I204N probably damaging Het
Spry4 T G 18: 38,734,740 (GRCm39) probably benign Het
Tcea2 A G 2: 181,328,751 (GRCm39) N261S possibly damaging Het
Tmem59l A G 8: 70,937,804 (GRCm39) F192S probably benign Het
Tnr T A 1: 159,677,675 (GRCm39) I20N probably damaging Het
Ttll5 C T 12: 85,938,982 (GRCm39) Q427* probably null Het
Zfp395 T C 14: 65,630,523 (GRCm39) S358P probably benign Het
Zfp438 A G 18: 5,210,740 (GRCm39) V766A 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
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
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'- TCTTCCCCAACTGTGAAAATGTCCC -3'
(R):5'- TGCCATGTGCCACACTATGTGC -3'

Sequencing Primer
(F):5'- ACTGTGAAAATGTCCCCCGTG -3'
(R):5'- GCAGCAAAACTGATGCCA -3'
Posted On 2014-04-13