Mutagenetix > Incidental Mutation

Incidental Mutation 'R8167:Vps29'

633829

Institutional Source

Beutler Lab

Gene Symbol

Vps29

Ensembl Gene

ENSMUSG00000029462

Gene Name

VPS29 retromer complex component

Synonyms

PEP11, 2010015D08Rik

MMRRC Submission

067593-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R8167 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122492432-122503047 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122500877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 69 (S69P)

Ref Sequence

ENSEMBL: ENSMUSP00000112579 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031419] [ENSMUST00000111729] [ENSMUST00000117868] [ENSMUST00000118765] [ENSMUST00000118830] [ENSMUST00000145821] [ENSMUST00000154686] [ENSMUST00000155671]

AlphaFold

Q9QZ88

Predicted Effect

probably benign
Transcript: ENSMUST00000031419

SMART Domains

Protein: ENSMUSP00000031419
Gene: ENSMUSG00000029463

Domain	Start	End	E-Value	Type
Pfam:FAM216B	50	160	6e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111729

SMART Domains

Protein: ENSMUSP00000107358
Gene: ENSMUSG00000029462

Domain	Start	End	E-Value	Type
low complexity region	26	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117868

SMART Domains

Protein: ENSMUSP00000113345
Gene: ENSMUSG00000029462

Domain	Start	End	E-Value	Type
Pfam:Metallophos_2	1	143	1.1e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118765
AA Change: S69P

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112579
Gene: ENSMUSG00000029462
AA Change: S69P

Domain	Start	End	E-Value	Type
PDB:1W24\|A	1	65	7e-42	PDB

Predicted Effect

silent
Transcript: ENSMUST00000118830

SMART Domains

Protein: ENSMUSP00000113525
Gene: ENSMUSG00000029462

Domain	Start	End	E-Value	Type
Pfam:Metallophos_2	6	162	1.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145821

SMART Domains

Protein: ENSMUSP00000123593
Gene: ENSMUSG00000029462

Domain	Start	End	E-Value	Type
Pfam:Metallophos_2	11	124	1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154686

Predicted Effect

silent
Transcript: ENSMUST00000155671

SMART Domains

Protein: ENSMUSP00000121020
Gene: ENSMUSG00000029462

Domain	Start	End	E-Value	Type
Pfam:Metallophos_2	1	158	3.4e-24	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a group of vacuolar protein sorting (VPS) genes that, when functionally impaired, disrupt the efficient delivery of vacuolar hydrolases. The protein encoded by this gene is a component of a large multimeric complex, termed the retromer complex, which is involved in retrograde transport of proteins from endosomes to the trans-Golgi network. This VPS protein may be involved in the formation of the inner shell of the retromer coat for retrograde vesicles leaving the prevacuolar compartment. Alternative splice variants encoding different isoforms and representing non-protein coding transcripts have been found for this gene. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	A	7: 43,147,288 (GRCm39)	I315F	possibly damaging	Het
Aadacl2fm3	T	A	3: 59,784,632 (GRCm39)	D368E	probably benign	Het
Acin1	G	A	14: 54,902,337 (GRCm39)	T485I	probably benign	Het
Adamts2	A	T	11: 50,670,541 (GRCm39)	I552F	probably damaging	Het
Anapc11	T	A	11: 120,490,112 (GRCm39)	N9K	probably benign	Het
Arhgef18	A	T	8: 3,403,636 (GRCm39)		probably benign	Het
Atp9b	T	C	18: 80,890,398 (GRCm39)	T314A		Het
Birc6	T	A	17: 74,950,389 (GRCm39)	I3214N	probably damaging	Het
Catsperb	A	G	12: 101,557,714 (GRCm39)	I762V	probably benign	Het
Cblb	T	A	16: 51,986,365 (GRCm39)	M536K	probably benign	Het
Ccdc85c	C	A	12: 108,240,759 (GRCm39)	A212S	unknown	Het
Cdh23	T	A	10: 60,150,162 (GRCm39)	D2561V	probably benign	Het
Cdh23	T	A	10: 60,173,472 (GRCm39)	Y1672F	probably damaging	Het
Cep83	T	C	10: 94,564,579 (GRCm39)	S173P	possibly damaging	Het
Ctc1	C	T	11: 68,918,584 (GRCm39)	P530S	probably damaging	Het
D630045J12Rik	A	G	6: 38,167,484 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,292,671 (GRCm39)	I3019F	possibly damaging	Het
Dsc1	T	C	18: 20,230,258 (GRCm39)	D349G	probably damaging	Het
Ehd2	C	G	7: 15,697,917 (GRCm39)	G107R	probably damaging	Het
Epha3	A	T	16: 63,388,804 (GRCm39)	W816R	probably damaging	Het
Fam135b	T	A	15: 71,404,840 (GRCm39)	S69C	probably null	Het
Fbxo43	A	G	15: 36,151,917 (GRCm39)	F600S	probably damaging	Het
Flnc	A	T	6: 29,455,921 (GRCm39)	D2117V	probably damaging	Het
Gas2l3	T	A	10: 89,262,342 (GRCm39)	T127S	probably damaging	Het
Gli3	T	G	13: 15,900,228 (GRCm39)	L1205R	probably benign	Het
Gm17093	A	T	14: 44,758,139 (GRCm39)	I107F		Het
Gm7298	T	A	6: 121,761,414 (GRCm39)	C1323*	probably null	Het
H2-D1	A	G	17: 35,485,741 (GRCm39)	T89A		Het
Hira	T	G	16: 18,715,259 (GRCm39)	D52E	probably benign	Het
Ighv6-6	G	C	12: 114,398,525 (GRCm39)	Y80*	probably null	Het
Kat6b	C	T	14: 21,719,953 (GRCm39)	T1435I	probably damaging	Het
Kcna1	C	A	6: 126,620,443 (GRCm39)		probably benign	Het
Kif24	C	A	4: 41,392,957 (GRCm39)	R1284L	possibly damaging	Het
Kremen2	A	C	17: 23,962,314 (GRCm39)	C173G	probably damaging	Het
Krtap24-1	G	C	16: 88,408,707 (GRCm39)	Q140E	probably benign	Het
Lrrc66	C	A	5: 73,786,952 (GRCm39)	G133*	probably null	Het
Mast1	C	A	8: 85,647,987 (GRCm39)	R498L	probably damaging	Het
Myom3	T	C	4: 135,534,504 (GRCm39)	I1231T	possibly damaging	Het
Nid2	G	A	14: 19,860,131 (GRCm39)	V1350I	possibly damaging	Het
Or4f59	A	T	2: 111,872,789 (GRCm39)	V196D	possibly damaging	Het
Or8j3c	A	G	2: 86,253,484 (GRCm39)	C179R	probably damaging	Het
Or9r3	T	C	10: 129,948,350 (GRCm39)	Q103R	probably damaging	Het
Pde4a	A	G	9: 21,117,469 (GRCm39)	D577G	possibly damaging	Het
Pde4d	T	A	13: 109,578,855 (GRCm39)	N36K	probably benign	Het
Plekhg1	A	T	10: 3,907,452 (GRCm39)	S845C		Het
Plekhg1	G	A	10: 3,907,453 (GRCm39)	S845N		Het
Plod1	C	T	4: 148,004,658 (GRCm39)	D481N	probably damaging	Het
Plxna4	T	A	6: 32,493,981 (GRCm39)	M212L	probably damaging	Het
Ppip5k1	C	A	2: 121,173,282 (GRCm39)	E464*	probably null	Het
Raph1	T	A	1: 60,529,270 (GRCm39)	M664L	unknown	Het
Rbm11	A	C	16: 75,395,673 (GRCm39)	M115L	probably benign	Het
Rerg	T	C	6: 137,034,869 (GRCm39)	H45R	possibly damaging	Het
Rnf43	A	G	11: 87,618,232 (GRCm39)	E47G	probably benign	Het
Rsph1	A	G	17: 31,496,260 (GRCm39)		probably benign	Het
Safb	A	G	17: 56,892,286 (GRCm39)	E42G	unknown	Het
Scn1a	A	T	2: 66,155,182 (GRCm39)	D592E	probably damaging	Het
Sdf4	T	G	4: 156,093,379 (GRCm39)	V237G	possibly damaging	Het
Slc44a2	C	A	9: 21,258,068 (GRCm39)	H439Q	possibly damaging	Het
Smg7	A	T	1: 152,720,123 (GRCm39)	N761K	possibly damaging	Het
Snrpb2	A	G	2: 142,910,284 (GRCm39)	E114G	probably benign	Het
Spmip11	A	G	15: 98,486,548 (GRCm39)	H106R	probably benign	Het
Ssh1	T	C	5: 114,090,051 (GRCm39)	D346G	possibly damaging	Het
Svopl	T	A	6: 37,993,979 (GRCm39)	I351F	probably damaging	Het
Tgfb2	A	G	1: 186,422,942 (GRCm39)	S136P	possibly damaging	Het
Thsd7a	A	T	6: 12,317,400 (GRCm39)	L1636*	probably null	Het
Tmc2	A	G	2: 130,083,488 (GRCm39)	T482A	probably benign	Het
Tnk2	C	A	16: 32,499,080 (GRCm39)	P798T	probably damaging	Het
Trim5	T	C	7: 103,927,630 (GRCm39)	Y170C	probably damaging	Het
Ttll10	T	C	4: 156,129,213 (GRCm39)	M310V	probably null	Het
Unc13c	T	A	9: 73,643,985 (GRCm39)	T1160S	probably damaging	Het
Usp25	A	T	16: 76,904,819 (GRCm39)	D795V	probably damaging	Het
Usp28	T	A	9: 48,949,148 (GRCm39)	V914E	probably damaging	Het
Utrn	A	T	10: 12,547,558 (GRCm39)	C1627*	probably null	Het
Vmn1r28	C	A	6: 58,243,052 (GRCm39)	F298L	noncoding transcript	Het
Zfp703	T	A	8: 27,469,782 (GRCm39)	L482H	probably damaging	Het

Other mutations in Vps29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01700:Vps29	APN	5	122,500,930 (GRCm39)	missense	probably damaging	1.00
IGL02627:Vps29	APN	5	122,500,908 (GRCm39)	missense	probably benign	0.00
IGL02716:Vps29	APN	5	122,500,129 (GRCm39)	missense	probably benign	0.20
R4807:Vps29	UTSW	5	122,500,951 (GRCm39)	missense	probably damaging	1.00
R5619:Vps29	UTSW	5	122,492,511 (GRCm39)	utr 5 prime	probably benign
R7431:Vps29	UTSW	5	122,492,541 (GRCm39)	missense	probably benign
R7866:Vps29	UTSW	5	122,500,180 (GRCm39)	missense	possibly damaging	0.91
R8971:Vps29	UTSW	5	122,498,212 (GRCm39)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- GGCATTTAGAGCTCTAGAAAAGGTG -3'
(R):5'- CAACTGTGTGCCTCTTAAGTG -3'

Sequencing Primer
(F):5'- CAGTGCTACATAGTGAGATCCTGTC -3'
(R):5'- CAGCCTGGCTTTACGAC -3'

Posted On

2020-07-13