Mutagenetix > Incidental Mutation

Incidental Mutation 'R8993:Poglut2'

684517

Institutional Source

Beutler Lab

Gene Symbol

Poglut2

Ensembl Gene

ENSMUSG00000026047

Gene Name

protein O-glucosyltransferase 2

Synonyms

5730416C13Rik, Kdel1, EP58, Kdelc1, 1810049A15Rik

MMRRC Submission

068824-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.369) question?

Stock #

R8993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44145706-44157968 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44151924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 322 (L322I)

Ref Sequence

ENSEMBL: ENSMUSP00000064500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027213] [ENSMUST00000065767] [ENSMUST00000152643]

AlphaFold

Q9JHP7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027213
AA Change: L322I

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027213
Gene: ENSMUSG00000026047
AA Change: L322I

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG_FLMN	28	130	3.16e-16	SMART
CAP10	226	400	1.65e-51	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065767
AA Change: L322I

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000064500
Gene: ENSMUSG00000026047
AA Change: L322I

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG_FLMN	28	130	3.16e-16	SMART
CAP10	226	470	4.81e-135	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152643

SMART Domains

Protein: ENSMUSP00000114287
Gene: ENSMUSG00000026047

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG_FLMN	28	133	9.21e-18	SMART

Meta Mutation Damage Score

0.2194

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. This gene has multiple transcript variants which are predicted to encode distinct isoforms. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	T	5: 113,841,842 (GRCm39)	C92*	probably null	Het
A830018L16Rik	G	T	1: 11,615,491 (GRCm39)	E155*	probably null	Het
Acaa1a	A	T	9: 119,178,418 (GRCm39)		probably null	Het
Adcy4	T	C	14: 56,008,835 (GRCm39)	E864G	probably null	Het
Adcy4	T	C	14: 56,016,156 (GRCm39)	D387G	probably damaging	Het
Ank1	C	T	8: 23,588,955 (GRCm39)	H574Y	probably damaging	Het
Arhgef16	C	T	4: 154,371,495 (GRCm39)	E233K	probably damaging	Het
Arhgef26	A	T	3: 62,355,525 (GRCm39)	Y699F	probably benign	Het
BB014433	C	T	8: 15,092,101 (GRCm39)	V251M	probably damaging	Het
Bcan	G	A	3: 87,901,529 (GRCm39)	A391V	probably benign	Het
Bod1l	A	C	5: 41,974,210 (GRCm39)	V2368G	probably benign	Het
Braf	A	G	6: 39,639,085 (GRCm39)	V222A	probably damaging	Het
Cd33	G	T	7: 43,182,871 (GRCm39)		probably benign	Het
Cdkl2	T	A	5: 92,170,010 (GRCm39)	K324N	probably damaging	Het
Celf6	A	T	9: 59,510,154 (GRCm39)	T199S	probably damaging	Het
Cmtm4	A	C	8: 105,081,798 (GRCm39)	D196E	probably benign	Het
Cntn1	G	A	15: 92,132,347 (GRCm39)	V148M	probably damaging	Het
Col1a2	C	A	6: 4,535,451 (GRCm39)	P921H	unknown	Het
Crmp1	T	C	5: 37,399,490 (GRCm39)	M1T	probably null	Het
Dnah7a	A	T	1: 53,543,262 (GRCm39)	Y2303N	probably damaging	Het
Dock10	G	T	1: 80,551,888 (GRCm39)	T650K	probably benign	Het
Eif1ad15	A	G	12: 88,288,170 (GRCm39)	F28L	probably benign	Het
Fam24a	A	G	7: 130,938,269 (GRCm39)	D53G	probably benign	Het
Foxa2	A	T	2: 147,886,626 (GRCm39)	M69K	probably benign	Het
Gatad2a	T	A	8: 70,362,585 (GRCm39)	H601L	probably damaging	Het
Gimap4	A	C	6: 48,667,539 (GRCm39)	D98A	probably damaging	Het
Gm14295	G	T	2: 176,501,623 (GRCm39)	R371L	possibly damaging	Het
Golim4	G	T	3: 75,785,435 (GRCm39)	A652E	probably benign	Het
Grid1	A	G	14: 34,748,899 (GRCm39)	I240V	probably benign	Het
Iqsec3	T	A	6: 121,390,272 (GRCm39)	T400S	unknown	Het
Itk	G	A	11: 46,225,735 (GRCm39)	R539C	probably damaging	Het
Kif27	T	A	13: 58,473,912 (GRCm39)	D695V	possibly damaging	Het
Krt79	T	C	15: 101,839,441 (GRCm39)		probably benign	Het
Lama2	C	A	10: 27,298,710 (GRCm39)	V129L	possibly damaging	Het
Lonrf1	C	A	8: 36,696,392 (GRCm39)	E552D	possibly damaging	Het
Mpp3	A	G	11: 101,891,491 (GRCm39)	I549T	probably benign	Het
Nat1	T	C	8: 67,944,394 (GRCm39)	Y260H	probably benign	Het
Nipal2	T	A	15: 34,648,983 (GRCm39)	K69*	probably null	Het
Nlrx1	G	T	9: 44,168,238 (GRCm39)		probably benign	Het
Pde1b	C	A	15: 103,429,852 (GRCm39)	A115E	probably benign	Het
Pde4dip	A	G	3: 97,673,810 (GRCm39)	Y369H	probably damaging	Het
Pnpla7	A	G	2: 24,943,431 (GRCm39)	Y1286C	possibly damaging	Het
Pramel5	T	C	4: 143,999,529 (GRCm39)	E186G	possibly damaging	Het
Qdpr	C	T	5: 45,607,386 (GRCm39)	G20D	probably damaging	Het
Rmnd1	T	G	10: 4,357,918 (GRCm39)	I364L	probably benign	Het
Slc5a4a	A	T	10: 76,022,369 (GRCm39)	E568V	probably benign	Het
Slc6a18	T	A	13: 73,816,390 (GRCm39)	I330F	probably benign	Het
Spesp1	T	C	9: 62,180,552 (GRCm39)	T119A	possibly damaging	Het
Sypl1	G	A	12: 33,025,662 (GRCm39)	S242N	probably benign	Het
Tbx18	G	A	9: 87,612,770 (GRCm39)	T43M	probably benign	Het
Tm7sf2	T	A	19: 6,113,956 (GRCm39)	D263V	probably damaging	Het
Trbv21	T	C	6: 41,179,924 (GRCm39)	I80T	probably damaging	Het
Ttc3	T	A	16: 94,228,667 (GRCm39)	L747Q	possibly damaging	Het
Ttll11	T	C	2: 35,707,813 (GRCm39)	D498G	possibly damaging	Het
Ttn	T	C	2: 76,583,714 (GRCm39)	Y22431C	probably null	Het
Ubtfl1	T	A	9: 18,321,637 (GRCm39)	S388R		Het
Vmn2r118	A	T	17: 55,917,835 (GRCm39)	L226I	possibly damaging	Het
Wdr46	A	G	17: 34,168,156 (GRCm39)	H576R	probably benign	Het
Zfp426	A	G	9: 20,386,296 (GRCm39)	F62L	probably damaging	Het

Other mutations in Poglut2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01461:Poglut2	APN	1	44,150,094 (GRCm39)	missense	probably damaging	1.00
IGL03185:Poglut2	APN	1	44,156,359 (GRCm39)	missense	probably benign	0.05
R0480:Poglut2	UTSW	1	44,149,917 (GRCm39)	nonsense	probably null
R4617:Poglut2	UTSW	1	44,149,180 (GRCm39)	missense	probably damaging	0.99
R5534:Poglut2	UTSW	1	44,151,837 (GRCm39)	missense	probably damaging	1.00
R5884:Poglut2	UTSW	1	44,156,260 (GRCm39)	missense	probably benign	0.00
R6044:Poglut2	UTSW	1	44,153,611 (GRCm39)	nonsense	probably null
R6755:Poglut2	UTSW	1	44,149,894 (GRCm39)	critical splice donor site	probably null
R6855:Poglut2	UTSW	1	44,149,987 (GRCm39)	nonsense	probably null
R6955:Poglut2	UTSW	1	44,156,257 (GRCm39)	missense	probably damaging	1.00
R7755:Poglut2	UTSW	1	44,157,733 (GRCm39)	unclassified	probably benign
R8144:Poglut2	UTSW	1	44,149,966 (GRCm39)	missense	probably damaging	1.00
R8245:Poglut2	UTSW	1	44,156,226 (GRCm39)	missense	probably benign	0.02
R9023:Poglut2	UTSW	1	44,153,925 (GRCm39)	missense	possibly damaging	0.49
R9081:Poglut2	UTSW	1	44,153,966 (GRCm39)	missense	probably benign	0.19
R9300:Poglut2	UTSW	1	44,156,362 (GRCm39)	missense	possibly damaging	0.67
R9634:Poglut2	UTSW	1	44,152,196 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTTTCCCCAAAGTGGATAC -3'
(R):5'- TTCTAGAAACCATGGGCCGG -3'

Sequencing Primer
(F):5'- CATTGGAAAGCAGAAAGGGATGTCC -3'
(R):5'- TGACCCCGAGCCTTGGTTTG -3'

Posted On

2021-10-11