Mutagenetix > Incidental Mutation

Incidental Mutation 'R8232:Vps50'

637173

Institutional Source

Beutler Lab

Gene Symbol

Vps50

Ensembl Gene

ENSMUSG00000001376

Gene Name

VPS50 EARP/GARPII complex subunit

Synonyms

Ccdc132, 1700034M03Rik, 8430415E05Rik

MMRRC Submission

067664-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.890) question?

Stock #

R8232 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3498393-3603531 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 3600139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 866 (V866G)

Ref Sequence

ENSEMBL: ENSMUSP00000001412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001412] [ENSMUST00000164052] [ENSMUST00000170873]

AlphaFold

Q8CI71

Predicted Effect

probably damaging
Transcript: ENSMUST00000001412
AA Change: V866G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001412
Gene: ENSMUSG00000001376
AA Change: V866G

Domain	Start	End	E-Value	Type
Pfam:DUF2450	54	345	2.5e-112	PFAM
low complexity region	659	676	N/A	INTRINSIC
Pfam:DUF2451	723	957	2.2e-98	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164052
AA Change: V866G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125872
Gene: ENSMUSG00000001376
AA Change: V866G

Domain	Start	End	E-Value	Type
Pfam:DUF2450	54	345	5.2e-111	PFAM
low complexity region	659	676	N/A	INTRINSIC
Pfam:DUF2451	723	929	1.1e-90	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170873
AA Change: V866G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128323
Gene: ENSMUSG00000001376
AA Change: V866G

Domain	Start	End	E-Value	Type
Pfam:DUF2450	54	345	5.3e-111	PFAM
low complexity region	659	676	N/A	INTRINSIC
Pfam:DUF2451	723	933	2.6e-90	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	A	T	4: 49,450,817 (GRCm39)	M98K	probably damaging	Het
Actn3	A	T	19: 4,921,683 (GRCm39)	W166R	probably damaging	Het
Adamts16	C	A	13: 70,941,217 (GRCm39)	C390F	probably damaging	Het
Arhgap32	A	T	9: 32,168,198 (GRCm39)	D727V	probably damaging	Het
Bcr	A	G	10: 75,001,883 (GRCm39)	Y929C	probably damaging	Het
Bmp1	T	A	14: 70,757,329 (GRCm39)	Y50F	probably damaging	Het
Camta2	G	A	11: 70,573,841 (GRCm39)	R171C	unknown	Het
Ccnd2	A	G	6: 127,127,549 (GRCm39)	L63P	probably damaging	Het
Clip1	G	C	5: 123,785,981 (GRCm39)	D234E	probably benign	Het
Dnah9	A	T	11: 65,746,149 (GRCm39)	I3988N	possibly damaging	Het
Frmpd2	T	G	14: 33,261,724 (GRCm39)	I843S	probably damaging	Het
Gcgr	A	G	11: 120,427,328 (GRCm39)	Y146C	probably damaging	Het
Gm5930	T	G	14: 44,573,181 (GRCm39)	K158T	probably damaging	Het
Gnl1	T	A	17: 36,298,487 (GRCm39)	C410*	probably null	Het
Gtf2h1	T	A	7: 46,451,103 (GRCm39)	I4K	probably benign	Het
Il12b	A	G	11: 44,299,401 (GRCm39)	S157G	possibly damaging	Het
Jcad	G	T	18: 4,674,862 (GRCm39)	A875S	probably benign	Het
Kcnrg	T	A	14: 61,845,386 (GRCm39)	M142K	probably benign	Het
Krtap4-6	A	C	11: 99,556,568 (GRCm39)	L53R	unknown	Het
Myo10	G	A	15: 25,804,400 (GRCm39)	G1565D	possibly damaging	Het
Nf1	A	G	11: 79,469,157 (GRCm39)	S806G	probably damaging	Het
Nlrp5	G	T	7: 23,116,770 (GRCm39)	V165L	probably benign	Het
Nppa	T	C	4: 148,085,795 (GRCm39)	I134T	possibly damaging	Het
Or4a72	A	T	2: 89,405,938 (GRCm39)	V44E	noncoding transcript	Het
Or51ai2	G	A	7: 103,586,980 (GRCm39)	R131Q	possibly damaging	Het
Or5b107	A	G	19: 13,142,683 (GRCm39)	M102V	probably benign	Het
Or5p68	A	T	7: 107,945,495 (GRCm39)	M231K	probably damaging	Het
Or6c202	C	A	10: 128,996,097 (GRCm39)	C252F	probably damaging	Het
Scyl2	A	T	10: 89,498,309 (GRCm39)	F167I	probably damaging	Het
Smarcal1	T	C	1: 72,665,722 (GRCm39)	L740S	probably damaging	Het
Tmem183a	T	A	1: 134,277,918 (GRCm39)	D282V	probably damaging	Het
Trhde	A	T	10: 114,636,442 (GRCm39)	V255E	possibly damaging	Het
Vmn1r229	T	A	17: 21,035,309 (GRCm39)	C185S	probably damaging	Het
Vmn2r58	A	T	7: 41,514,076 (GRCm39)	M189K	probably damaging	Het

Other mutations in Vps50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Vps50	APN	6	3,602,670 (GRCm39)	missense	probably benign	0.00
IGL00764:Vps50	APN	6	3,532,177 (GRCm39)	nonsense	probably null
IGL00844:Vps50	APN	6	3,532,177 (GRCm39)	nonsense	probably null
IGL00845:Vps50	APN	6	3,532,177 (GRCm39)	nonsense	probably null
IGL00850:Vps50	APN	6	3,532,177 (GRCm39)	nonsense	probably null
IGL01417:Vps50	APN	6	3,522,377 (GRCm39)	splice site	probably benign
IGL01648:Vps50	APN	6	3,498,545 (GRCm39)	missense	probably benign	0.25
IGL03238:Vps50	APN	6	3,594,771 (GRCm39)	missense	possibly damaging	0.60
IGL03285:Vps50	APN	6	3,555,011 (GRCm39)	missense	possibly damaging	0.71
R0309:Vps50	UTSW	6	3,536,853 (GRCm39)	missense	possibly damaging	0.90
R0513:Vps50	UTSW	6	3,520,210 (GRCm39)	missense	probably damaging	1.00
R0714:Vps50	UTSW	6	3,571,105 (GRCm39)	missense	probably benign	0.05
R1066:Vps50	UTSW	6	3,533,565 (GRCm39)	missense	probably damaging	1.00
R1210:Vps50	UTSW	6	3,594,884 (GRCm39)	missense	probably damaging	0.99
R1420:Vps50	UTSW	6	3,588,007 (GRCm39)	nonsense	probably null
R1437:Vps50	UTSW	6	3,517,852 (GRCm39)	nonsense	probably null
R1451:Vps50	UTSW	6	3,565,628 (GRCm39)	missense	possibly damaging	0.77
R1470:Vps50	UTSW	6	3,517,777 (GRCm39)	splice site	probably benign
R1576:Vps50	UTSW	6	3,545,568 (GRCm39)	missense	possibly damaging	0.60
R1599:Vps50	UTSW	6	3,565,537 (GRCm39)	missense	probably benign	0.00
R1860:Vps50	UTSW	6	3,520,279 (GRCm39)	critical splice donor site	probably null
R2055:Vps50	UTSW	6	3,522,265 (GRCm39)	missense	probably benign	0.01
R2109:Vps50	UTSW	6	3,555,379 (GRCm39)	missense	probably damaging	0.99
R3408:Vps50	UTSW	6	3,600,212 (GRCm39)	missense	probably damaging	1.00
R3732:Vps50	UTSW	6	3,519,243 (GRCm39)	synonymous	silent
R3764:Vps50	UTSW	6	3,588,063 (GRCm39)	missense	probably damaging	1.00
R3828:Vps50	UTSW	6	3,533,500 (GRCm39)	missense	probably benign
R4092:Vps50	UTSW	6	3,551,037 (GRCm39)	missense	probably benign
R4385:Vps50	UTSW	6	3,516,694 (GRCm39)	missense	probably benign	0.00
R4588:Vps50	UTSW	6	3,562,306 (GRCm39)	missense	probably damaging	1.00
R4843:Vps50	UTSW	6	3,536,974 (GRCm39)	critical splice donor site	probably null
R4978:Vps50	UTSW	6	3,517,808 (GRCm39)	missense	probably benign
R5368:Vps50	UTSW	6	3,567,739 (GRCm39)	missense	possibly damaging	0.88
R5867:Vps50	UTSW	6	3,536,965 (GRCm39)	missense	probably damaging	1.00
R6591:Vps50	UTSW	6	3,504,939 (GRCm39)	critical splice donor site	probably null
R6626:Vps50	UTSW	6	3,551,101 (GRCm39)	nonsense	probably null
R6691:Vps50	UTSW	6	3,504,939 (GRCm39)	critical splice donor site	probably null
R6707:Vps50	UTSW	6	3,545,583 (GRCm39)	missense	probably damaging	1.00
R6751:Vps50	UTSW	6	3,600,274 (GRCm39)	missense	probably damaging	1.00
R6773:Vps50	UTSW	6	3,592,560 (GRCm39)	missense	probably benign	0.25
R6867:Vps50	UTSW	6	3,517,835 (GRCm39)	missense	probably benign	0.16
R6883:Vps50	UTSW	6	3,498,513 (GRCm39)	unclassified	probably benign
R6963:Vps50	UTSW	6	3,592,577 (GRCm39)	critical splice donor site	probably null
R7147:Vps50	UTSW	6	3,567,750 (GRCm39)	nonsense	probably null
R7150:Vps50	UTSW	6	3,578,854 (GRCm39)	missense	possibly damaging	0.89
R7167:Vps50	UTSW	6	3,600,256 (GRCm39)	missense	probably damaging	1.00
R7235:Vps50	UTSW	6	3,588,078 (GRCm39)	missense	probably benign	0.01
R7385:Vps50	UTSW	6	3,602,708 (GRCm39)	missense	probably benign	0.00
R7662:Vps50	UTSW	6	3,562,304 (GRCm39)	missense	probably damaging	1.00
R7782:Vps50	UTSW	6	3,532,202 (GRCm39)	critical splice donor site	probably null
R8188:Vps50	UTSW	6	3,562,297 (GRCm39)	nonsense	probably null
R8535:Vps50	UTSW	6	3,565,612 (GRCm39)	missense	possibly damaging	0.95
R8808:Vps50	UTSW	6	3,522,338 (GRCm39)	nonsense	probably null
R8845:Vps50	UTSW	6	3,504,926 (GRCm39)	missense	probably benign
R8889:Vps50	UTSW	6	3,536,967 (GRCm39)	missense	probably damaging	1.00
R8892:Vps50	UTSW	6	3,536,967 (GRCm39)	missense	probably damaging	1.00
R8911:Vps50	UTSW	6	3,516,710 (GRCm39)	missense	probably benign
R9089:Vps50	UTSW	6	3,536,884 (GRCm39)	missense	probably benign	0.02
R9116:Vps50	UTSW	6	3,588,091 (GRCm39)	splice site	probably benign
R9381:Vps50	UTSW	6	3,592,433 (GRCm39)	missense	probably benign
R9440:Vps50	UTSW	6	3,516,724 (GRCm39)	missense	probably benign	0.01
R9485:Vps50	UTSW	6	3,592,557 (GRCm39)	missense	probably damaging	0.99
R9585:Vps50	UTSW	6	3,600,348 (GRCm39)	missense	probably benign	0.03
R9645:Vps50	UTSW	6	3,516,706 (GRCm39)	missense	possibly damaging	0.94
R9761:Vps50	UTSW	6	3,519,218 (GRCm39)	missense	probably damaging	1.00
R9796:Vps50	UTSW	6	3,562,300 (GRCm39)	missense	probably damaging	1.00
X0025:Vps50	UTSW	6	3,571,012 (GRCm39)	missense	probably benign	0.02
X0062:Vps50	UTSW	6	3,594,833 (GRCm39)	missense	probably benign
Z1176:Vps50	UTSW	6	3,578,792 (GRCm39)	critical splice acceptor site	probably null
Z1177:Vps50	UTSW	6	3,562,312 (GRCm39)	missense	probably damaging	1.00
Z1177:Vps50	UTSW	6	3,555,367 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACCTTAAAACCCGGTATTTCAGTAG -3'
(R):5'- TTGATCCAACGCTCCATGTC -3'

Sequencing Primer
(F):5'- AGGGAAAATATGTACCATGTTGATG -3'
(R):5'- GCTCCATGTCATTCTCAGTTAGGTAG -3'

Posted On

2020-07-13