Incidental Mutation 'R5288:Vps45'
ID 424459
Institutional Source Beutler Lab
Gene Symbol Vps45
Ensembl Gene ENSMUSG00000015747
Gene Name vacuolar protein sorting 45
Synonyms mVps45
MMRRC Submission 042842-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.892) question?
Stock # R5288 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 95907144-95965778 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 95965086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000015891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015891]
AlphaFold P97390
Predicted Effect probably null
Transcript: ENSMUST00000015891
AA Change: M1V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000015891
Gene: ENSMUSG00000015747
AA Change: M1V

DomainStartEndE-ValueType
Pfam:Sec1 23 546 3e-119 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140518
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 87,293,168 (GRCm39) Y7N probably damaging Het
Adcy1 A C 11: 7,111,351 (GRCm39) I881L probably benign Het
Aftph T C 11: 20,676,994 (GRCm39) D205G probably damaging Het
Aldh7a1 T A 18: 56,667,325 (GRCm39) N316Y possibly damaging Het
Ankrd36 A G 11: 5,639,340 (GRCm39) probably benign Het
Ccdc88a T G 11: 29,448,416 (GRCm39) N1465K possibly damaging Het
Ccpg1 G A 9: 72,920,326 (GRCm39) S647N probably benign Het
Cep70 T A 9: 99,163,128 (GRCm39) L325Q probably damaging Het
Cfap46 A G 7: 139,193,423 (GRCm39) probably null Het
Cftr C T 6: 18,226,128 (GRCm39) Q359* probably null Het
Chrne A T 11: 70,505,913 (GRCm39) N457K possibly damaging Het
Cntn2 A G 1: 132,451,415 (GRCm39) I438T probably benign Het
Cntn4 T C 6: 106,158,765 (GRCm39) L10P possibly damaging Het
Copg1 G T 6: 87,867,189 (GRCm39) M87I possibly damaging Het
Cyfip1 A T 7: 55,574,883 (GRCm39) M1045L possibly damaging Het
Cyp2c29 C T 19: 39,318,816 (GRCm39) P432L probably damaging Het
Dcaf11 T A 14: 55,800,833 (GRCm39) D96E probably damaging Het
Dmxl2 A G 9: 54,286,041 (GRCm39) S2715P probably benign Het
Dnhd1 G A 7: 105,363,644 (GRCm39) E4069K possibly damaging Het
Dpy19l4 T A 4: 11,289,721 (GRCm39) N330I probably damaging Het
Dpy19l4 G T 4: 11,304,014 (GRCm39) A132D probably damaging Het
Duox2 A G 2: 122,125,617 (GRCm39) V330A probably benign Het
Dusp11 T C 6: 85,924,587 (GRCm39) *322W probably null Het
Dusp8 T A 7: 141,643,730 (GRCm39) Q61L possibly damaging Het
Eml3 G A 19: 8,916,638 (GRCm39) G720S probably damaging Het
F11 A G 8: 45,699,833 (GRCm39) S418P probably damaging Het
Fam91a1 G A 15: 58,320,243 (GRCm39) S645N probably benign Het
Fat2 G A 11: 55,158,482 (GRCm39) T3412I probably benign Het
Fbxo38 A G 18: 62,674,042 (GRCm39) M13T probably benign Het
Fbxo48 G T 11: 16,904,329 (GRCm39) L160F possibly damaging Het
Gm10134 T A 2: 28,396,372 (GRCm39) probably benign Het
Gm11787 T C 4: 3,511,795 (GRCm39) noncoding transcript Het
Gpatch8 A T 11: 102,399,053 (GRCm39) probably null Het
Gucy2g G A 19: 55,203,548 (GRCm39) A750V probably damaging Het
Hephl1 T C 9: 14,988,150 (GRCm39) T653A possibly damaging Het
Herc3 T A 6: 58,851,263 (GRCm39) M504K probably damaging Het
Hmcn2 A G 2: 31,350,333 (GRCm39) T5077A probably benign Het
Ifitm3 T C 7: 140,590,554 (GRCm39) N2S probably benign Het
Ighe T C 12: 113,235,092 (GRCm39) H356R probably benign Het
Ighv10-3 T A 12: 114,487,125 (GRCm39) M99L probably benign Het
Izumo4 C A 10: 80,538,639 (GRCm39) C30* probably null Het
Jag1 A T 2: 136,937,464 (GRCm39) H303Q possibly damaging Het
Kif24 T C 4: 41,395,373 (GRCm39) E500G probably benign Het
Kng1 A T 16: 22,897,842 (GRCm39) D414V probably damaging Het
Loxhd1 A C 18: 77,451,308 (GRCm39) D410A probably damaging Het
Ltn1 T C 16: 87,212,899 (GRCm39) K554R possibly damaging Het
Ly75 A G 2: 60,133,985 (GRCm39) C1547R probably damaging Het
Ms4a6d A T 19: 11,564,500 (GRCm39) S124T possibly damaging Het
Mtcl3 A G 10: 29,072,766 (GRCm39) D686G probably benign Het
Mtfr2 A G 10: 20,233,448 (GRCm39) D339G probably damaging Het
Myh10 T A 11: 68,692,434 (GRCm39) L1369Q probably damaging Het
Myh11 A T 16: 14,025,872 (GRCm39) V1366D possibly damaging Het
Nadsyn1 A G 7: 143,357,023 (GRCm39) V491A possibly damaging Het
Nav3 T C 10: 109,688,966 (GRCm39) N437S probably benign Het
Ncf1 A G 5: 134,250,659 (GRCm39) L373P probably damaging Het
Neb A T 2: 52,079,873 (GRCm39) I85N probably damaging Het
Nktr A G 9: 121,577,659 (GRCm39) K576E probably benign Het
Nmur2 T A 11: 55,931,040 (GRCm39) I224F probably damaging Het
Oas3 A G 5: 120,895,055 (GRCm39) F978S probably damaging Het
Or10ag53 C T 2: 87,082,827 (GRCm39) P182L probably benign Het
Or10ak9 T C 4: 118,726,772 (GRCm39) S264P probably damaging Het
Or2r3 T A 6: 42,448,186 (GRCm39) I309F probably benign Het
Or2t48 A T 11: 58,420,308 (GRCm39) M168K probably damaging Het
Or5p60 T C 7: 107,724,375 (GRCm39) T32A probably benign Het
Pcyox1 A T 6: 86,369,336 (GRCm39) probably null Het
Pdcd7 G A 9: 65,265,974 (GRCm39) W477* probably null Het
Pitpnm1 T C 19: 4,153,435 (GRCm39) F197S probably damaging Het
Plce1 C A 19: 38,748,535 (GRCm39) N1755K probably damaging Het
Pnpla7 C A 2: 24,931,031 (GRCm39) P882Q probably damaging Het
Pold2 A G 11: 5,826,760 (GRCm39) L58P probably damaging Het
Pomt1 C G 2: 32,134,311 (GRCm39) Y277* probably null Het
Pou4f2 A G 8: 79,162,958 (GRCm39) Y26H unknown Het
Pphln1-ps1 T G 16: 13,495,622 (GRCm39) N240K probably benign Het
Ppm1e A T 11: 87,249,377 (GRCm39) L118Q possibly damaging Het
Pramel34 C T 5: 93,785,607 (GRCm39) M224I possibly damaging Het
Prdx2 T A 8: 85,698,302 (GRCm39) Y164* probably null Het
Prkra T G 2: 76,469,622 (GRCm39) T146P probably damaging Het
Prpf8 A G 11: 75,386,625 (GRCm39) D1038G probably damaging Het
Rab4a A T 8: 124,554,113 (GRCm39) I16L probably benign Het
Rai2 A G X: 160,561,636 (GRCm39) N363S probably benign Het
Ranbp17 A T 11: 33,169,241 (GRCm39) V991D possibly damaging Het
Rimbp2 G A 5: 128,865,656 (GRCm39) T557M probably benign Het
Rmi1 G A 13: 58,557,280 (GRCm39) G510R probably damaging Het
Sdad1 A G 5: 92,434,684 (GRCm39) *687Q probably null Het
Sema6d T C 2: 124,506,166 (GRCm39) L720P probably damaging Het
Setx T G 2: 29,024,045 (GRCm39) probably null Het
Sgsm3 T C 15: 80,892,200 (GRCm39) V256A probably benign Het
Slc28a2b C A 2: 122,353,259 (GRCm39) L480I probably benign Het
Sppl2c T A 11: 104,078,127 (GRCm39) I309K possibly damaging Het
Stard9 A G 2: 120,531,111 (GRCm39) E2456G probably damaging Het
Strn3 C G 12: 51,694,803 (GRCm39) R320P probably damaging Het
Supv3l1 A T 10: 62,266,375 (GRCm39) N600K possibly damaging Het
Syne2 T A 12: 76,146,112 (GRCm39) S6377T possibly damaging Het
Tas2r123 A T 6: 132,824,190 (GRCm39) H29L probably benign Het
Tbl3 C T 17: 24,924,944 (GRCm39) V52M possibly damaging Het
Tbp A G 17: 15,727,609 (GRCm39) I145V probably benign Het
Tcf20 A T 15: 82,739,910 (GRCm39) S514T possibly damaging Het
Tgm4 A G 9: 122,885,559 (GRCm39) Y367C probably damaging Het
Tle1 C T 4: 72,060,081 (GRCm39) V258M probably damaging Het
Tln1 C T 4: 43,540,661 (GRCm39) V1447I probably benign Het
Tnfrsf11b C T 15: 54,141,622 (GRCm39) A8T probably benign Het
Trim80 A T 11: 115,338,843 (GRCm39) T558S probably benign Het
Trmt6 C A 2: 132,650,703 (GRCm39) A302S probably benign Het
Tsen15 C T 1: 152,259,131 (GRCm39) V76I probably damaging Het
Ttc17 A T 2: 94,133,985 (GRCm39) W1067R probably damaging Het
Ucn3 A T 13: 3,991,474 (GRCm39) F59L probably benign Het
Ulk3 T A 9: 57,498,023 (GRCm39) I108N possibly damaging Het
Vmn2r94 A C 17: 18,464,728 (GRCm39) Y521D probably damaging Het
Vta1 C A 10: 14,581,143 (GRCm39) L21F probably damaging Het
Zdhhc21 C T 4: 82,765,929 (GRCm39) G2D probably damaging Het
Zfp169 A T 13: 48,643,751 (GRCm39) C459S possibly damaging Het
Zfp90 C T 8: 107,152,000 (GRCm39) T571M probably damaging Het
Zswim8 A T 14: 20,768,939 (GRCm39) N1119I possibly 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
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'- AATGCTAAGTTCTACAGCGGAAC -3'
(R):5'- TTCCACTCCCTACCGAGAAG -3'

Sequencing Primer
(F):5'- AACGGGGCCAGCAATTC -3'
(R):5'- AATGGCACCGTCGCTTAG -3'
Posted On 2016-08-04