Mutagenetix > Incidental Mutation

Incidental Mutation 'R4745:Vps35'

356659

Institutional Source

Beutler Lab

Gene Symbol

Vps35

Ensembl Gene

ENSMUSG00000031696

Gene Name

VPS35 retromer complex component

Synonyms

Mem3

MMRRC Submission

042028-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85987014-86026146 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85987891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 753 (D753E)

Ref Sequence

ENSEMBL: ENSMUSP00000034131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034131]

AlphaFold

Q9EQH3

Predicted Effect

probably benign
Transcript: ENSMUST00000034131
AA Change: D753E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034131
Gene: ENSMUSG00000031696
AA Change: D753E

Domain	Start	End	E-Value	Type
Pfam:Vps35	15	753	6.8e-303	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (89/92)

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. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to E10. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,526,427 (GRCm39)	Y619C	probably damaging	Het
Adck1	A	G	12: 88,368,949 (GRCm39)		probably null	Het
Agap3	A	C	5: 24,656,123 (GRCm39)		probably null	Het
Ankib1	A	T	5: 3,782,566 (GRCm39)	H354Q	probably damaging	Het
Ankrd29	T	G	18: 12,387,679 (GRCm39)	N301T	probably benign	Het
Arhgef4	A	G	1: 34,846,356 (GRCm39)	T379A	probably damaging	Het
Arid1a	A	G	4: 133,480,417 (GRCm39)	V169A	probably benign	Het
Bag2	T	C	1: 33,787,417 (GRCm39)		probably null	Het
Bmt2	A	C	6: 13,628,686 (GRCm39)	Y332*	probably null	Het
Bpifb1	A	T	2: 154,053,501 (GRCm39)	K248*	probably null	Het
Caap1	C	A	4: 94,444,751 (GRCm39)		probably null	Het
Calcr	T	A	6: 3,692,576 (GRCm39)	Y389F	probably damaging	Het
Capn1	C	T	19: 6,043,946 (GRCm39)	V562I	probably benign	Het
Ccr1	T	A	9: 123,763,985 (GRCm39)	T182S	probably benign	Het
Ceacam15	T	C	7: 16,407,259 (GRCm39)	D86G	probably benign	Het
Cldnd1	C	T	16: 58,550,006 (GRCm39)	T63I	probably benign	Het
Col12a1	A	T	9: 79,559,368 (GRCm39)		probably null	Het
Cystm1	A	G	18: 36,526,348 (GRCm39)		probably benign	Het
Ddx55	T	A	5: 124,705,028 (GRCm39)	Y428*	probably null	Het
Ensa	G	A	3: 95,538,745 (GRCm39)	G118D	probably benign	Het
Folh1	A	T	7: 86,372,482 (GRCm39)		probably null	Het
Foxj2	C	A	6: 122,814,948 (GRCm39)	P328Q	probably damaging	Het
Fscn3	A	G	6: 28,435,627 (GRCm39)	I417V	probably damaging	Het
Galnt7	T	C	8: 57,995,761 (GRCm39)		probably benign	Het
Gm11563	T	A	11: 99,549,246 (GRCm39)	*169C	probably null	Het
Hfm1	A	T	5: 107,049,709 (GRCm39)	D417E	possibly damaging	Het
Ighv15-2	A	G	12: 114,528,230 (GRCm39)	S107P	probably damaging	Het
Itsn2	A	G	12: 4,711,944 (GRCm39)	D904G	probably damaging	Het
Kif1b	A	T	4: 149,322,339 (GRCm39)	L860*	probably null	Het
Krt79	T	C	15: 101,839,119 (GRCm39)	E450G	probably damaging	Het
Lama1	T	C	17: 68,045,775 (GRCm39)	S227P	probably damaging	Het
Lamp5	C	A	2: 135,902,786 (GRCm39)	H168Q	probably benign	Het
Lilra5	A	T	7: 4,245,076 (GRCm39)	Q240L	possibly damaging	Het
Lrp1	A	T	10: 127,385,813 (GRCm39)	C3521S	probably benign	Het
Mroh1	T	A	15: 76,292,730 (GRCm39)		probably null	Het
Nlrp4g	A	T	9: 124,349,515 (GRCm38)		noncoding transcript	Het
Nr2f6	A	T	8: 71,831,179 (GRCm39)	I70N	probably benign	Het
Nr4a2	T	A	2: 57,000,163 (GRCm39)	D311V	probably damaging	Het
Odad2	G	A	18: 7,286,763 (GRCm39)	T156M	probably benign	Het
Or10w1	T	A	19: 13,632,750 (GRCm39)	M319K	probably benign	Het
Or10x4	T	C	1: 174,219,442 (GRCm39)	L269P	probably damaging	Het
Or52n20	T	A	7: 104,320,711 (GRCm39)	F267L	probably damaging	Het
Pcdhb6	C	A	18: 37,468,426 (GRCm39)	A449D	possibly damaging	Het
Pcgf6	A	G	19: 47,036,545 (GRCm39)		probably null	Het
Prc1	C	A	7: 79,962,911 (GRCm39)	H131Q	probably benign	Het
Ptprq	C	A	10: 107,360,114 (GRCm39)	R2187L	probably damaging	Het
Rasl2-9	C	A	7: 5,128,702 (GRCm39)	R76L	possibly damaging	Het
Rdh16f1	A	T	10: 127,626,685 (GRCm39)	Y246F	probably benign	Het
Rit1	T	C	3: 88,624,982 (GRCm39)		probably benign	Het
Sash1	A	G	10: 8,605,672 (GRCm39)	V906A	probably benign	Het
Scnn1b	T	C	7: 121,501,509 (GRCm39)	V108A	probably benign	Het
Sema4f	A	T	6: 82,895,265 (GRCm39)	I356N	probably damaging	Het
Shc4	A	T	2: 125,491,197 (GRCm39)	L447Q	probably damaging	Het
Slc24a1	T	C	9: 64,856,758 (GRCm39)	M50V	unknown	Het
Slc28a3	T	A	13: 58,722,077 (GRCm39)	D269V	possibly damaging	Het
Slc35e1	A	G	8: 73,246,166 (GRCm39)	S89P	possibly damaging	Het
Smpd5	T	A	15: 76,179,008 (GRCm39)	H125Q	probably benign	Het
Snapc2	A	G	8: 4,304,578 (GRCm39)	T31A	probably damaging	Het
Sox5	G	C	6: 143,779,214 (GRCm39)	H606D	possibly damaging	Het
Spag6	A	G	2: 18,742,107 (GRCm39)	T367A	possibly damaging	Het
Spag8	T	C	4: 43,651,636 (GRCm39)	T413A	probably damaging	Het
Sptlc3	G	A	2: 139,389,087 (GRCm39)	G156R	probably damaging	Het
Stx19	A	G	16: 62,642,783 (GRCm39)	T200A	probably benign	Het
Tas2r116	A	G	6: 132,832,668 (GRCm39)	T90A	probably benign	Het
Tasor2	G	A	13: 3,640,069 (GRCm39)	T356I	probably benign	Het
Tbl3	A	G	17: 24,924,304 (GRCm39)		probably benign	Het
Tekt5	G	T	16: 10,213,058 (GRCm39)	P76T	probably damaging	Het
Tjp2	C	T	19: 24,074,030 (GRCm39)	E1086K	possibly damaging	Het
Topbp1	T	C	9: 103,200,770 (GRCm39)	L601P	probably damaging	Het
Trav16	T	A	14: 53,980,934 (GRCm39)	M41K	possibly damaging	Het
Trav6-5	C	A	14: 53,728,960 (GRCm39)	N72K	probably benign	Het
Trpm3	C	G	19: 22,692,659 (GRCm39)	T250S	possibly damaging	Het
Vstm2a	A	T	11: 16,213,061 (GRCm39)	N149Y	probably damaging	Het
Vwa2	G	T	19: 56,895,318 (GRCm39)	M497I	probably benign	Het
Zfat	C	A	15: 68,052,223 (GRCm39)	V517L	probably benign	Het
Zfp169	C	A	13: 48,643,708 (GRCm39)	R473L	possibly damaging	Het
Zfp672	T	C	11: 58,220,324 (GRCm39)		probably benign	Het
Zranb1	T	C	7: 132,574,443 (GRCm39)	V420A	probably damaging	Het

Other mutations in Vps35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01745:Vps35	APN	8	86,000,092 (GRCm39)	splice site	probably benign
IGL02604:Vps35	APN	8	86,013,018 (GRCm39)	missense	probably damaging	1.00
IGL03278:Vps35	APN	8	86,021,590 (GRCm39)	unclassified	probably benign
IGL03326:Vps35	APN	8	86,001,526 (GRCm39)	nonsense	probably null
PIT4151001:Vps35	UTSW	8	86,010,677 (GRCm39)	missense	possibly damaging	0.95
R0118:Vps35	UTSW	8	86,021,582 (GRCm39)	missense	probably benign	0.04
R0226:Vps35	UTSW	8	86,000,204 (GRCm39)	missense	probably damaging	0.97
R1079:Vps35	UTSW	8	86,005,683 (GRCm39)	missense	probably damaging	1.00
R1477:Vps35	UTSW	8	86,014,429 (GRCm39)	missense	probably damaging	1.00
R1969:Vps35	UTSW	8	86,005,623 (GRCm39)	missense	possibly damaging	0.90
R2082:Vps35	UTSW	8	85,990,094 (GRCm39)	missense	possibly damaging	0.95
R2156:Vps35	UTSW	8	86,013,129 (GRCm39)	missense	probably benign	0.06
R2341:Vps35	UTSW	8	86,001,443 (GRCm39)	splice site	probably benign
R3752:Vps35	UTSW	8	86,001,460 (GRCm39)	missense	probably benign	0.34
R4589:Vps35	UTSW	8	86,014,331 (GRCm39)	missense	probably damaging	1.00
R4790:Vps35	UTSW	8	86,005,486 (GRCm39)	splice site	probably null
R4827:Vps35	UTSW	8	86,000,186 (GRCm39)	missense	possibly damaging	0.94
R4953:Vps35	UTSW	8	86,008,475 (GRCm39)	missense	probably damaging	1.00
R6277:Vps35	UTSW	8	85,987,857 (GRCm39)	missense	possibly damaging	0.80
R6291:Vps35	UTSW	8	86,026,086 (GRCm39)	start codon destroyed	probably benign	0.07
R6434:Vps35	UTSW	8	86,000,124 (GRCm39)	missense	possibly damaging	0.53
R7175:Vps35	UTSW	8	85,990,189 (GRCm39)	splice site	probably null
R7206:Vps35	UTSW	8	86,014,350 (GRCm39)	missense	probably damaging	1.00
R7309:Vps35	UTSW	8	86,001,596 (GRCm39)	missense	probably benign	0.05
R7479:Vps35	UTSW	8	85,997,434 (GRCm39)	missense	probably benign	0.17
R7547:Vps35	UTSW	8	85,989,999 (GRCm39)	missense	probably damaging	1.00
R7761:Vps35	UTSW	8	86,010,707 (GRCm39)	missense	possibly damaging	0.91
R7812:Vps35	UTSW	8	86,010,818 (GRCm39)	missense	probably benign	0.01
R8312:Vps35	UTSW	8	86,001,498 (GRCm39)	missense	possibly damaging	0.65
R8356:Vps35	UTSW	8	85,987,934 (GRCm39)	missense	possibly damaging	0.63
R8403:Vps35	UTSW	8	86,001,487 (GRCm39)	missense	probably benign
R8456:Vps35	UTSW	8	85,987,934 (GRCm39)	missense	possibly damaging	0.63
R9189:Vps35	UTSW	8	86,007,898 (GRCm39)	missense	possibly damaging	0.67
R9615:Vps35	UTSW	8	86,010,633 (GRCm39)	missense	probably benign	0.00
X0020:Vps35	UTSW	8	85,990,050 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTGATGTGTAGAAAGGAGTATGC -3'
(R):5'- AGGGCATTGTCCATTTGTAGC -3'

Sequencing Primer
(F):5'- AGAAAGGAGTATGCTGAGCTGTCTTC -3'
(R):5'- GGCACTGACTGCTTTTCCAGAAG -3'

Posted On

2015-11-11