Mutagenetix > Incidental Mutation

Incidental Mutation 'R7761:Vps35'

597871

Institutional Source

Beutler Lab

Gene Symbol

Vps35

Ensembl Gene

ENSMUSG00000031696

Gene Name

VPS35 retromer complex component

Synonyms

Mem3

MMRRC Submission

045817-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7761 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85987014-86026146 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86010707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 212 (E212G)

Ref Sequence

ENSEMBL: ENSMUSP00000034131 (fasta)

Gene Model

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

AlphaFold

Q9EQH3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034131
AA Change: E212G

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034131
Gene: ENSMUSG00000031696
AA Change: E212G

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

Meta Mutation Damage Score

0.9166

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (72/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,369,447 (GRCm39)	C378Y	probably damaging	Het
Adcy6	A	C	15: 98,497,895 (GRCm39)	L421R	probably damaging	Het
AI837181	A	G	19: 5,476,319 (GRCm39)	T161A	probably benign	Het
Ascl2	A	G	7: 142,521,840 (GRCm39)	S203P	possibly damaging	Het
Casq2	G	T	3: 102,052,580 (GRCm39)	W364L	probably damaging	Het
Cdc20	T	C	4: 118,293,186 (GRCm39)	T245A	possibly damaging	Het
Cfap99	C	T	5: 34,480,774 (GRCm39)	Q475*	probably null	Het
Chmp2b	G	A	16: 65,343,745 (GRCm39)	T104I	possibly damaging	Het
Cimap1c	A	G	9: 56,759,822 (GRCm39)	L16P	unknown	Het
Cln3	A	T	7: 126,180,886 (GRCm39)	Y52N	probably damaging	Het
Cpm	A	G	10: 117,519,340 (GRCm39)	Y416C	possibly damaging	Het
Creb3l3	T	C	10: 80,920,833 (GRCm39)	D399G	possibly damaging	Het
Csnk2a1-ps3	A	T	1: 156,352,707 (GRCm39)	K303*	probably null	Het
Dbnl	A	G	11: 5,738,597 (GRCm39)	Q13R	probably benign	Het
Dnah11	T	A	12: 117,987,648 (GRCm39)	Q2418L	probably damaging	Het
Echs1	A	T	7: 139,692,378 (GRCm39)	I123N	probably damaging	Het
Exd2	T	C	12: 80,522,546 (GRCm39)	S2P	probably damaging	Het
F2rl1	A	G	13: 95,650,382 (GRCm39)	F167L	probably damaging	Het
Fam83g	C	A	11: 61,575,584 (GRCm39)	D75E	possibly damaging	Het
Fes	T	C	7: 80,030,615 (GRCm39)	D558G	probably damaging	Het
Ggnbp2	A	T	11: 84,730,803 (GRCm39)		probably null	Het
Gm10283	A	T	8: 60,954,236 (GRCm39)		probably null	Het
Gm14410	T	C	2: 176,885,527 (GRCm39)	N246D	probably benign	Het
Gpr39	A	T	1: 125,605,249 (GRCm39)	Q59L	probably damaging	Het
Hic1	C	T	11: 75,058,200 (GRCm39)	A230T	probably damaging	Het
Hmcn1	A	G	1: 150,598,196 (GRCm39)	L1702P	possibly damaging	Het
Kif13a	A	T	13: 46,951,955 (GRCm39)	Y773N	probably benign	Het
Lins1	A	T	7: 66,363,853 (GRCm39)	R583*	probably null	Het
Lrch4	T	A	5: 137,638,025 (GRCm39)	H102Q		Het
Ltn1	T	C	16: 87,208,681 (GRCm39)	T806A	probably benign	Het
Luc7l2	G	A	6: 38,531,999 (GRCm39)		probably null	Het
Mdfic	T	C	6: 15,728,055 (GRCm39)	I25T	unknown	Het
Muc16	G	T	9: 18,491,870 (GRCm39)	T6727N	probably damaging	Het
Nalcn	C	A	14: 123,531,791 (GRCm39)	G1353V	probably damaging	Het
Nalcn	C	G	14: 123,531,792 (GRCm39)	G1353R	probably damaging	Het
Nbeal1	C	T	1: 60,358,500 (GRCm39)	P2476S	probably benign	Het
Nell2	T	C	15: 95,330,550 (GRCm39)	T233A	probably damaging	Het
Nobox	G	A	6: 43,281,125 (GRCm39)	Q450*	probably null	Het
Nostrin	T	G	2: 68,991,466 (GRCm39)	L153R	possibly damaging	Het
Nup160	T	C	2: 90,533,456 (GRCm39)	V635A	probably benign	Het
Opn4	T	A	14: 34,320,809 (GRCm39)	M84L	probably benign	Het
Or4f14	T	A	2: 111,743,222 (GRCm39)	T18S	probably benign	Het
Or4f53	T	C	2: 111,087,519 (GRCm39)	S20P	possibly damaging	Het
Or4k77	C	T	2: 111,199,138 (GRCm39)	H54Y	probably benign	Het
Or56a42-ps1	A	G	7: 104,775,926 (GRCm39)	I184T	probably benign	Het
Papolg	T	C	11: 23,841,884 (GRCm39)	Q13R	probably benign	Het
Pax6	T	G	2: 105,522,036 (GRCm39)	F231C	probably damaging	Het
Pcdha3	T	C	18: 37,079,347 (GRCm39)	Y30H	probably damaging	Het
Pkhd1l1	A	G	15: 44,393,280 (GRCm39)	T1872A	probably benign	Het
Pln	T	C	10: 53,220,005 (GRCm39)	S16P	probably damaging	Het
Ppp4r3a	C	T	12: 101,022,080 (GRCm39)	E308K	probably damaging	Het
Prp2	C	T	6: 132,577,306 (GRCm39)	Q198*	probably null	Het
Ptpn20	T	A	14: 33,344,509 (GRCm39)	S144R	probably benign	Het
Pum3	A	T	19: 27,404,492 (GRCm39)	F10L	probably benign	Het
Rapgefl1	A	T	11: 98,728,485 (GRCm39)	D169V	probably benign	Het
Rbm12b1	T	C	4: 12,146,460 (GRCm39)	Y811H	possibly damaging	Het
Rcor1	T	A	12: 111,076,297 (GRCm39)	F418L		Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Samd11	T	C	4: 156,332,282 (GRCm39)	T520A	probably benign	Het
Scn3a	T	A	2: 65,359,798 (GRCm39)	T137S	possibly damaging	Het
Sgo2b	T	C	8: 64,379,946 (GRCm39)	N962S	probably benign	Het
Slc39a12	T	A	2: 14,439,141 (GRCm39)	I465N	probably benign	Het
Spcs1	T	A	14: 30,723,607 (GRCm39)		probably benign	Het
Stard9	T	C	2: 120,529,860 (GRCm39)	V2039A	probably benign	Het
Syt11	G	T	3: 88,669,778 (GRCm39)	T38K	possibly damaging	Het
Tcf7l2	T	A	19: 55,914,468 (GRCm39)	C454S	probably damaging	Het
Tfap2a	G	C	13: 40,878,656 (GRCm39)	H155D	probably benign	Het
Trim46	T	C	3: 89,149,565 (GRCm39)	K273R	probably damaging	Het
Trim60	A	T	8: 65,453,964 (GRCm39)	V95E	possibly damaging	Het
Ttc39d	G	A	17: 80,524,741 (GRCm39)	A467T	probably damaging	Het
Ttn	T	C	2: 76,550,274 (GRCm39)	T31636A	probably benign	Het
U2surp	A	G	9: 95,370,814 (GRCm39)	V420A	probably damaging	Het
Vps26b	T	C	9: 26,940,826 (GRCm39)	D31G	probably benign	Het
Zfp1010	T	C	2: 176,957,310 (GRCm39)	I63V	possibly 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
R4745:Vps35	UTSW	8	85,987,891 (GRCm39)	missense	probably benign
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
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'- CACAAATCTACCTTCACTTCAGTG -3'
(R):5'- ATTGATCCTGTCACGTGTACTAAG -3'

Sequencing Primer
(F):5'- CCTAGTCTTTCAAAACTGCTGTGGG -3'
(R):5'- CCTGTCACGTGTACTAAGATTTTTC -3'

Posted On

2019-11-26