Mutagenetix > Incidental Mutation

Incidental Mutation 'R4617:Poglut2'

351082

Institutional Source

Beutler Lab

Gene Symbol

Poglut2

Ensembl Gene

ENSMUSG00000026047

Gene Name

protein O-glucosyltransferase 2

Synonyms

5730416C13Rik, Kdel1, EP58, Kdelc1, 1810049A15Rik

MMRRC Submission

041828-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.453) question?

Stock #

R4617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44145706-44157968 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 44149180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 453 (F453V)

Ref Sequence

ENSEMBL: ENSMUSP00000064500 (fasta)

Gene Model

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

AlphaFold

Q9JHP7

Predicted Effect

probably benign
Transcript: ENSMUST00000027213
AA Change: F383V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000027213
Gene: ENSMUSG00000026047
AA Change: F383V

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

probably damaging
Transcript: ENSMUST00000065767
AA Change: F453V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064500
Gene: ENSMUSG00000026047
AA Change: F453V

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

noncoding transcript
Transcript: ENSMUST00000134195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148542

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149665

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

0.1686

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

96% (66/69)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,369,493 (GRCm39)	I363V	probably benign	Het
Acaa1a	T	A	9: 119,178,006 (GRCm39)	S279R	probably damaging	Het
Akr1cl	A	G	1: 65,060,550 (GRCm39)	C156R	probably damaging	Het
Arhgap11a	G	A	2: 113,664,423 (GRCm39)	T620M	probably benign	Het
Brinp1	A	G	4: 68,681,198 (GRCm39)	I444T	possibly damaging	Het
Ccdc150	A	G	1: 54,394,913 (GRCm39)	I760V	probably benign	Het
Cdh26	G	A	2: 178,102,435 (GRCm39)		probably benign	Het
Cpd	A	G	11: 76,731,441 (GRCm39)	L255P	probably damaging	Het
Cyfip2	A	G	11: 46,144,845 (GRCm39)	Y670H	probably damaging	Het
Disp2	G	A	2: 118,620,643 (GRCm39)	M458I	probably benign	Het
Dot1l	T	C	10: 80,620,918 (GRCm39)	I563T	probably damaging	Het
Egf	A	T	3: 129,484,442 (GRCm39)	S1001T	probably benign	Het
Elfn1	A	G	5: 139,957,764 (GRCm39)	Y256C	probably damaging	Het
Exoc4	C	T	6: 33,839,139 (GRCm39)	T725I	probably benign	Het
Fam168b	A	G	1: 34,859,063 (GRCm39)	V72A	possibly damaging	Het
Fbxw20	C	T	9: 109,046,631 (GRCm39)	S443N	probably damaging	Het
Flacc1	A	T	1: 58,700,601 (GRCm39)	D301E	probably benign	Het
Flrt2	T	C	12: 95,747,003 (GRCm39)	V447A	possibly damaging	Het
Gm4846	A	G	1: 166,323,550 (GRCm39)	S58P	probably damaging	Het
Gpr20	T	C	15: 73,567,585 (GRCm39)	N268S	probably benign	Het
Lpcat2b	T	C	5: 107,581,865 (GRCm39)	L398P	possibly damaging	Het
Mapk8ip3	G	A	17: 25,123,761 (GRCm39)	P587L	probably damaging	Het
Mfap4	C	A	11: 61,376,335 (GRCm39)		probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrpl38	T	C	11: 116,023,278 (GRCm39)	D325G	probably damaging	Het
Mtmr12	A	G	15: 12,270,132 (GRCm39)	E430G	probably damaging	Het
Mup18	T	A	4: 61,590,154 (GRCm39)	I125F	possibly damaging	Het
Ogdhl	A	G	14: 32,047,842 (GRCm39)	R31G	probably benign	Het
Or13f5	A	T	4: 52,825,399 (GRCm39)	M1L	probably benign	Het
Pcdh1	C	A	18: 38,330,913 (GRCm39)	V697L	probably benign	Het
Pcdhga9	T	C	18: 37,871,553 (GRCm39)	Y461H	probably damaging	Het
Pdzrn4	A	G	15: 92,667,723 (GRCm39)	Y625C	probably damaging	Het
Pkd2l1	C	A	19: 44,142,573 (GRCm39)	A490S	probably damaging	Het
Ptprn	T	A	1: 75,228,931 (GRCm39)	D828V	possibly damaging	Het
Rgs12	T	A	5: 35,177,700 (GRCm39)	W97R	probably damaging	Het
Rnf10	T	A	5: 115,386,762 (GRCm39)	Q508L	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sec24b	A	T	3: 129,834,413 (GRCm39)	S126T	possibly damaging	Het
Slc6a5	A	G	7: 49,561,768 (GRCm39)	N100S	probably benign	Het
Speer1j	T	C	5: 11,553,798 (GRCm39)	S7P	probably benign	Het
Stam2	A	T	2: 52,605,716 (GRCm39)	D167E	probably benign	Het
Stambp	G	A	6: 83,538,960 (GRCm39)	Q147*	probably null	Het
Tbc1d32	A	G	10: 56,047,000 (GRCm39)	V556A	possibly damaging	Het
Tll2	T	C	19: 41,087,075 (GRCm39)	D592G	probably benign	Het
Tmem199	A	T	11: 78,400,508 (GRCm39)		probably benign	Het
Traip	T	A	9: 107,847,218 (GRCm39)	N352K	probably benign	Het
Trmt1l	C	T	1: 151,329,799 (GRCm39)	Q581*	probably null	Het
Usp54	C	A	14: 20,600,406 (GRCm39)	A1444S	probably benign	Het
Vsig1	G	T	X: 139,827,135 (GRCm39)	A95S	probably benign	Het
Xdh	G	A	17: 74,225,389 (GRCm39)	T471I	probably damaging	Het
Zdhhc19	A	G	16: 32,316,494 (GRCm39)	D83G	probably damaging	Het
Zfp352	A	G	4: 90,113,318 (GRCm39)	K486R	probably benign	Het
Zfp451	A	G	1: 33,841,752 (GRCm39)		probably benign	Het
Zfp963	A	T	8: 70,195,944 (GRCm39)	S170T	probably benign	Het
Zfp970	A	G	2: 177,167,961 (GRCm39)	I512V	probably benign	Het
Zfp990	A	G	4: 145,263,616 (GRCm39)	I205V	possibly 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
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
R8993:Poglut2	UTSW	1	44,151,924 (GRCm39)	missense	possibly damaging	0.83
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'- TCCAACTGCAGGCCTAATATC -3'
(R):5'- AGGACATGCTTTCTGGGTC -3'

Sequencing Primer
(F):5'- GTACTCTACGGTAAGCTACATGC -3'
(R):5'- AGGACATGCTTTCTGGGTCATCTC -3'

Posted On

2015-10-08