Mutagenetix > Incidental Mutation

Incidental Mutation 'R9327:Vps26b'

706580

Institutional Source

Beutler Lab

Gene Symbol

Vps26b

Ensembl Gene

ENSMUSG00000031988

Gene Name

VPS26 retromer complex component B

Synonyms

2310075A12Rik, 1810012I05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9327 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26919067-26941361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26930750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 82 (N82D)

Ref Sequence

ENSEMBL: ENSMUSP00000034470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034470]

AlphaFold

Q8C0E2

PDB Structure

Crystal Structure of mouse Vps26B [X-RAY DIFFRACTION]
Crystal structure of mouse VPS26B in spacegroup P41 21 2 [X-RAY DIFFRACTION]
Crystal structure of mouse VPS26B(L197S/R199E) in spacegroup P41 21 2 [X-RAY DIFFRACTION]
Crystal structure of mouse VPS26B(R240S/G241A/E242S) in spacegroup P41 21 2 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000034470
AA Change: N82D

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000034470
Gene: ENSMUSG00000031988
AA Change: N82D

Domain	Start	End	E-Value	Type
Pfam:Vps26	6	281	1e-135	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (57/57)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal behavior, growth, and health. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,895,499 (GRCm39)	M194K	probably benign	Het
Abcg1	T	C	17: 31,333,122 (GRCm39)	S622P	probably benign	Het
Ahnak2	A	T	12: 112,748,446 (GRCm39)	V467E		Het
Amdhd2	T	C	17: 24,377,421 (GRCm39)	E164G	probably benign	Het
Ank3	G	A	10: 69,812,086 (GRCm39)		probably null	Het
Bank1	A	T	3: 135,799,308 (GRCm39)	N545K	probably benign	Het
C9orf72	A	G	4: 35,205,883 (GRCm39)	I247T		Het
Cep63	T	C	9: 102,467,723 (GRCm39)	I548V	probably benign	Het
Col28a1	T	C	6: 8,175,653 (GRCm39)	D65G	unknown	Het
Cspg4b	C	A	13: 113,453,710 (GRCm39)	Q58K		Het
Cyp2c50	A	G	19: 40,079,010 (GRCm39)	N118D	probably benign	Het
Dock10	C	T	1: 80,510,184 (GRCm39)	C1549Y	probably damaging	Het
Epg5	A	G	18: 77,991,435 (GRCm39)	E44G	probably benign	Het
Ephb4	T	C	5: 137,361,529 (GRCm39)	S520P	probably damaging	Het
Eppk1	T	C	15: 75,993,755 (GRCm39)	E1042G	probably benign	Het
Fmod	A	T	1: 133,968,589 (GRCm39)	N210Y	probably damaging	Het
Fpr3	A	G	17: 18,191,713 (GRCm39)	D328G	probably damaging	Het
Garem2	T	G	5: 30,321,989 (GRCm39)	C783G	probably benign	Het
Gm10542	A	G	18: 44,337,689 (GRCm39)	N56D	probably damaging	Het
Gm20939	T	A	17: 95,184,424 (GRCm39)	N357K	probably benign	Het
Hr	A	G	14: 70,805,228 (GRCm39)	H990R	possibly damaging	Het
Il21r	A	G	7: 125,226,163 (GRCm39)	N53S	unknown	Het
Insrr	C	T	3: 87,721,604 (GRCm39)	T1170I	probably damaging	Het
Itga11	A	G	9: 62,638,034 (GRCm39)	M103V	probably damaging	Het
Izumo3	G	T	4: 92,035,050 (GRCm39)	Q56K	probably damaging	Het
Kcnh8	T	C	17: 53,146,084 (GRCm39)	V324A	probably damaging	Het
Kcnj2	T	A	11: 110,963,719 (GRCm39)	N370K	probably benign	Het
Klf16	G	T	10: 80,412,688 (GRCm39)	S116*	probably null	Het
Mettl16	T	C	11: 74,696,089 (GRCm39)	V310A	probably benign	Het
Misp3	G	T	8: 84,737,080 (GRCm39)	Q105K	unknown	Het
Mmrn2	G	A	14: 34,097,473 (GRCm39)		probably benign	Het
Mtcl1	A	G	17: 66,645,130 (GRCm39)	L1888P	probably damaging	Het
Muc5ac	A	C	7: 141,365,429 (GRCm39)	T1984P	possibly damaging	Het
Myo16	G	T	8: 10,489,705 (GRCm39)		probably null	Het
Nckipsd	T	C	9: 108,691,699 (GRCm39)	I466T	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Npffr2	A	G	5: 89,730,661 (GRCm39)	H197R	probably benign	Het
Nrap	T	A	19: 56,340,100 (GRCm39)	M842L	probably benign	Het
Nxpe4	G	A	9: 48,309,984 (GRCm39)	A416T	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or51t4	T	C	7: 102,597,687 (GRCm39)	V5A	probably benign	Het
Or52n20	A	G	7: 104,320,742 (GRCm39)	I278V	probably damaging	Het
Or5p53	T	A	7: 107,533,019 (GRCm39)	C97*	probably null	Het
Ppp1r15a	C	T	7: 45,174,035 (GRCm39)	A258T	possibly damaging	Het
Prss36	A	T	7: 127,532,570 (GRCm39)	Y760*	probably null	Het
Psg26	T	A	7: 18,216,480 (GRCm39)	T120S	probably damaging	Het
Ptk7	A	T	17: 46,878,977 (GRCm39)	L908Q	probably benign	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Slc25a44	A	T	3: 88,328,025 (GRCm39)	H155Q	probably benign	Het
Smarcc2	A	G	10: 128,321,486 (GRCm39)	T894A	probably damaging	Het
Tle4	A	G	19: 14,574,149 (GRCm39)	F39L	probably damaging	Het
Tmem181a	G	A	17: 6,346,048 (GRCm39)	V181M	possibly damaging	Het
Tmt1b	A	G	10: 128,794,607 (GRCm39)	M239T	probably benign	Het
Trpm3	T	C	19: 22,896,004 (GRCm39)	V947A	possibly damaging	Het
Txndc16	G	A	14: 45,379,448 (GRCm39)	T663I	probably benign	Het
Vmn2r45	T	C	7: 8,474,532 (GRCm39)	Y832C	probably damaging	Het
Vmn2r9	T	C	5: 108,996,841 (GRCm39)	T143A	probably damaging	Het
Zfp318	T	G	17: 46,721,892 (GRCm39)	F1298L	probably damaging	Het

Other mutations in Vps26b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03308:Vps26b	APN	9	26,940,796 (GRCm39)	missense	probably damaging	1.00
R0173:Vps26b	UTSW	9	26,924,101 (GRCm39)	missense	probably benign	0.07
R0947:Vps26b	UTSW	9	26,924,077 (GRCm39)	missense	probably damaging	1.00
R1515:Vps26b	UTSW	9	26,924,041 (GRCm39)	missense	probably damaging	1.00
R4700:Vps26b	UTSW	9	26,926,511 (GRCm39)	missense	probably damaging	0.96
R4777:Vps26b	UTSW	9	26,921,752 (GRCm39)	missense	possibly damaging	0.92
R6528:Vps26b	UTSW	9	26,921,762 (GRCm39)	missense	probably benign
R6765:Vps26b	UTSW	9	26,924,104 (GRCm39)	missense	probably damaging	1.00
R6841:Vps26b	UTSW	9	26,921,760 (GRCm39)	missense	probably benign	0.10
R6933:Vps26b	UTSW	9	26,926,613 (GRCm39)	missense	possibly damaging	0.93
R7209:Vps26b	UTSW	9	26,921,288 (GRCm39)	missense	probably benign	0.00
R7761:Vps26b	UTSW	9	26,940,826 (GRCm39)	missense	probably benign	0.20
R9134:Vps26b	UTSW	9	26,921,225 (GRCm39)	missense	probably benign
R9326:Vps26b	UTSW	9	26,930,627 (GRCm39)	missense	probably damaging	0.96
X0060:Vps26b	UTSW	9	26,940,779 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAAAAGCCACGGAGCTTGAG -3'
(R):5'- GGCATCTTTGGGAAGGCATG -3'

Sequencing Primer
(F):5'- TTGAGACCCTGCCCTGTGAG -3'
(R):5'- TAGGTCCATGGAGGTTCA -3'

Posted On

2022-04-18