Mutagenetix > Incidental Mutation

Incidental Mutation 'R9475:Vps45'

715687

Institutional Source

Beutler Lab

Gene Symbol

Vps45

Ensembl Gene

ENSMUSG00000015747

Gene Name

vacuolar protein sorting 45

Synonyms

mVps45

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.876) question?

Stock #

R9475 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95999832-96058466 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 96042925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 231 (T231P)

Ref Sequence

ENSEMBL: ENSMUSP00000015891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015891]

AlphaFold

P97390

Predicted Effect

probably damaging
Transcript: ENSMUST00000015891
AA Change: T231P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000015891
Gene: ENSMUSG00000015747
AA Change: T231P

Domain	Start	End	E-Value	Type
Pfam:Sec1	23	546	3e-119	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 46,016,468	W243R	probably damaging	Het
Ablim1	T	G	19: 57,239,180	K18Q	probably benign	Het
Adamts18	T	A	8: 113,777,938	N174Y	possibly damaging	Het
Agbl2	A	G	2: 90,784,093	H23R	probably benign	Het
Akap6	T	G	12: 53,010,552	Y934D	probably damaging	Het
Alas1	C	T	9: 106,234,062	S635N	probably benign	Het
Ankrd24	A	G	10: 81,642,299		probably null	Het
Atp6v0a4	A	G	6: 38,060,982	L560P	probably damaging	Het
Cacng1	C	T	11: 107,716,292	V34M	possibly damaging	Het
Clcn3	C	T	8: 60,934,517	A233T	probably damaging	Het
Cntnap3	A	G	13: 64,799,135	F160S	probably damaging	Het
Ctnnd2	A	G	15: 30,881,130	S719G	probably damaging	Het
Exosc2	G	A	2: 31,674,743	V107I	probably benign	Het
Fam83b	C	A	9: 76,491,803	V673F	probably benign	Het
Fras1	T	C	5: 96,780,070	F3781L	probably damaging	Het
Gal3st1	T	A	11: 3,998,660	L289H	probably damaging	Het
Garem1	T	C	18: 21,148,313	I329V	probably benign	Het
Gli3	G	A	13: 15,725,711	G1228S	possibly damaging	Het
Gpbp1l1	T	C	4: 116,574,361	F72S	possibly damaging	Het
Hao1	T	A	2: 134,548,261	M53L	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Iqcm	A	G	8: 75,753,455	E347G	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcnrg	A	G	14: 61,607,657	I49V	possibly damaging	Het
Lrrc8e	G	A	8: 4,235,346	G524S	probably benign	Het
Lrrn1	A	T	6: 107,568,300	Y353F	probably damaging	Het
Mdn1	A	G	4: 32,739,849	D3701G	possibly damaging	Het
Mtmr2	A	G	9: 13,805,471	T623A	probably benign	Het
Ndst4	C	A	3: 125,714,647	S287*	probably null	Het
Ntrk3	A	C	7: 78,302,732	M579R	probably benign	Het
Oas1a	G	A	5: 120,899,254	L237F	probably damaging	Het
Olfr1350	A	T	7: 6,570,819	Y276F	probably damaging	Het
Olfr169	T	C	16: 19,566,520	D121G	probably benign	Het
Olfr857	T	C	9: 19,713,643	M272T	probably benign	Het
Paqr5	T	A	9: 61,956,225	I272F	probably damaging	Het
Pcdha11	T	A	18: 37,007,538	V740E	probably damaging	Het
Pdgfra	A	C	5: 75,167,927	N240T	possibly damaging	Het
Plbd2	G	A	5: 120,494,380	Q186*	probably null	Het
Plce1	G	A	19: 38,777,893	E2121K	possibly damaging	Het
Ppargc1a	C	A	5: 51,495,738	G161C	probably damaging	Het
Ptprk	T	C	10: 28,334,480	I166T	possibly damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 37,878,114		probably benign	Het
Rpap2	T	A	5: 107,620,589	L431Q	probably damaging	Het
Rslcan18	T	A	13: 67,102,064	K160*	probably null	Het
Sema7a	T	C	9: 57,954,905	F180L	probably benign	Het
Sh2d3c	C	T	2: 32,753,027	L741F	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Skint6	C	T	4: 112,806,840		probably null	Het
Skiv2l	A	T	17: 34,841,102	D897E	probably benign	Het
Slc35f3	T	C	8: 126,382,254	S181P	probably damaging	Het
Slc4a9	A	T	18: 36,529,216	E127V	probably null	Het
Spata5	T	C	3: 37,431,909	V260A	probably benign	Het
Speg	C	T	1: 75,388,091	T372I	probably damaging	Het
Syce1l	A	G	8: 113,655,103	T204A	probably benign	Het
Tas2r138	T	A	6: 40,612,458	M285L	probably benign	Het
Tbc1d10a	G	C	11: 4,213,604	K285N	probably damaging	Het
Trim9	T	A	12: 70,346,454	M239L	probably benign	Het
Trp53bp1	A	G	2: 121,209,280	S1293P	probably benign	Het
Uaca	C	T	9: 60,872,216	T1295M	possibly damaging	Het
Ubald1	G	T	16: 4,875,569	Q161K	possibly damaging	Het
Ugt1a10	C	T	1: 88,216,260	R201C	probably damaging	Het
Wdr17	A	T	8: 54,635,477	D1186E	probably benign	Het
Zfp534	G	A	4: 147,682,274	T8I	probably benign	Het
Zfp68	T	C	5: 138,607,255	N269D	probably benign	Het

Other mutations in Vps45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Vps45	APN	3	96000066	makesense	probably null
IGL00848:Vps45	APN	3	96056973	splice site	probably benign
IGL00915:Vps45	APN	3	96046350	critical splice donor site	probably null
IGL02143:Vps45	APN	3	96033821	missense	probably benign
IGL02143:Vps45	APN	3	96019646	missense	probably benign	0.00
IGL02247:Vps45	APN	3	96042924	missense	probably damaging	1.00
IGL02598:Vps45	APN	3	96031042	missense	probably benign	0.03
IGL03409:Vps45	APN	3	96053089	missense	probably benign	0.00
R0943:Vps45	UTSW	3	96057024	missense	probably benign	0.02
R1102:Vps45	UTSW	3	96042941	splice site	probably benign
R1540:Vps45	UTSW	3	96048346	missense	probably damaging	1.00
R1829:Vps45	UTSW	3	96047245	critical splice donor site	probably null
R1919:Vps45	UTSW	3	96046440	missense	probably benign	0.00
R2113:Vps45	UTSW	3	96047053	missense	probably benign	0.05
R2251:Vps45	UTSW	3	96057040	missense	probably benign	0.00
R2511:Vps45	UTSW	3	96041445	missense	probably benign	0.01
R4752:Vps45	UTSW	3	96048387	missense	possibly damaging	0.88
R4806:Vps45	UTSW	3	96046413	missense	probably benign	0.01
R4914:Vps45	UTSW	3	96019631	missense	probably damaging	0.98
R4915:Vps45	UTSW	3	96019631	missense	probably damaging	0.98
R4917:Vps45	UTSW	3	96019631	missense	probably damaging	0.98
R5180:Vps45	UTSW	3	96046371	missense	possibly damaging	0.94
R5288:Vps45	UTSW	3	96057774	start codon destroyed	probably null	1.00
R5454:Vps45	UTSW	3	96019657	missense	probably benign	0.21
R6397:Vps45	UTSW	3	96042852	missense	probably benign	0.13
R7247:Vps45	UTSW	3	96041405	missense	probably benign	0.02
R7449:Vps45	UTSW	3	96047136	critical splice acceptor site	probably null
R7460:Vps45	UTSW	3	96048387	missense	probably benign	0.00
R7795:Vps45	UTSW	3	96019624	missense	probably benign	0.13
R8462:Vps45	UTSW	3	96033779	missense	possibly damaging	0.62
R8490:Vps45	UTSW	3	96041349	missense	probably benign
R9076:Vps45	UTSW	3	96053033	splice site	probably benign
R9081:Vps45	UTSW	3	96032813	missense	probably benign	0.24
R9358:Vps45	UTSW	3	96033664	critical splice donor site	probably null
R9608:Vps45	UTSW	3	96033670	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATTCTCACACGCCAGTACTG -3'
(R):5'- ATGATAGCTGCAGTCACTTTCTTTC -3'

Sequencing Primer
(F):5'- GCCAGTACTGACACTTTACATAAG -3'
(R):5'- GCAGTCACTTTCTTTCTATCAGGAG -3'

Posted On

2022-06-15