Mutagenetix > Incidental Mutation

Incidental Mutation 'R5814:Erp27'

447678

Institutional Source

Beutler Lab

Gene Symbol

Erp27

Ensembl Gene

ENSMUSG00000030219

Gene Name

endoplasmic reticulum protein 27

Synonyms

1810047B09Rik, 1810033M07Rik

MMRRC Submission

043396-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R5814 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136884309-136899178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136888564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 138 (V138E)

Ref Sequence

ENSEMBL: ENSMUSP00000032343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032343]

AlphaFold

Q9D8U3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032343
AA Change: V138E

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032343
Gene: ENSMUSG00000030219
AA Change: V138E

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	48	61	N/A	INTRINSIC
Pfam:Thioredoxin_6	64	251	2.8e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162243

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

91% (52/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a noncatalytic member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. The canonical protein has an N-terminal signal sequence, two thioredoxin (TRX)-like domains and a C-terminal ER-retention sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms; some of which lack domains present in the canonical protein. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	C	7: 130,740,811 (GRCm39)	D135G	probably benign	Het
Arrdc3	G	T	13: 81,038,698 (GRCm39)	R220L	possibly damaging	Het
Bace1	A	G	9: 45,771,562 (GRCm39)	D458G	probably damaging	Het
Cacna1s	A	G	1: 136,034,880 (GRCm39)	Y1360C	probably benign	Het
Ccnb1-ps	T	C	7: 41,756,522 (GRCm39)		noncoding transcript	Het
Cd209b	T	C	8: 3,973,348 (GRCm39)	E112G	probably damaging	Het
Cit	T	A	5: 116,117,478 (GRCm39)	L1176Q	probably damaging	Het
Clcn3	T	C	8: 61,387,607 (GRCm39)	Y214C	probably damaging	Het
Clvs2	G	T	10: 33,404,503 (GRCm39)	Q238K	probably benign	Het
Creb3l3	C	T	10: 80,921,496 (GRCm39)	V350M	probably benign	Het
Crot	A	C	5: 9,023,996 (GRCm39)	D373E	probably damaging	Het
Cyp4a12b	T	A	4: 115,289,694 (GRCm39)	I187N	probably damaging	Het
Degs1l	G	A	1: 180,882,663 (GRCm39)	V142I	probably damaging	Het
Dnhd1	C	A	7: 105,369,102 (GRCm39)	A4291D	possibly damaging	Het
Dnmt3b	A	T	2: 153,514,417 (GRCm39)	E403D	probably benign	Het
Ect2l	A	T	10: 18,075,757 (GRCm39)	I43K	probably damaging	Het
Efcab3	T	A	11: 104,626,940 (GRCm39)		probably benign	Het
Ep400	C	A	5: 110,843,444 (GRCm39)		probably null	Het
Gbp4	G	A	5: 105,267,785 (GRCm39)	A487V	probably benign	Het
Gm10142	C	A	10: 77,551,957 (GRCm39)	T106N	probably damaging	Het
Gxylt2	C	A	6: 100,710,196 (GRCm39)	H112Q	probably damaging	Het
Hexim2	G	A	11: 103,029,209 (GRCm39)	R87Q	probably damaging	Het
Hgf	A	G	5: 16,807,305 (GRCm39)	N399S	probably benign	Het
Ikbke	T	A	1: 131,199,516 (GRCm39)	I302F	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kdm1b	A	G	13: 47,216,622 (GRCm39)		probably null	Het
Krtap19-9a	T	C	16: 88,721,002 (GRCm39)		noncoding transcript	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Mmp10	G	A	9: 7,503,621 (GRCm39)	A164T	possibly damaging	Het
Myrip	G	A	9: 120,253,734 (GRCm39)	G269D	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Paxbp1	G	T	16: 90,827,384 (GRCm39)	R420S	probably damaging	Het
Pcbp2	T	A	15: 102,391,597 (GRCm39)	S38R	probably damaging	Het
Pcf11	A	G	7: 92,306,922 (GRCm39)	V1082A	probably benign	Het
Pkhd1	T	C	1: 20,269,629 (GRCm39)	E3305G	probably damaging	Het
Pla2g4c	T	A	7: 13,074,543 (GRCm39)	W250R	probably damaging	Het
Prune2	A	G	19: 16,993,725 (GRCm39)		probably null	Het
Rpsa	A	G	9: 119,957,551 (GRCm39)		probably benign	Het
Sema3e	A	G	5: 14,275,680 (GRCm39)	I262V	probably benign	Het
Setd2	T	A	9: 110,396,826 (GRCm39)	L1663*	probably null	Het
Sh3d19	G	A	3: 86,033,911 (GRCm39)	V755I	probably benign	Het
Spag9	T	A	11: 93,973,654 (GRCm39)	V14E	possibly damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Sspo	A	T	6: 48,428,818 (GRCm39)	Q411L	probably damaging	Het
Sycp1	A	C	3: 102,803,213 (GRCm39)	S532R	probably benign	Het
Taf6l	C	A	19: 8,752,210 (GRCm39)	A493S	probably benign	Het
Tsnaxip1	A	G	8: 106,570,603 (GRCm39)	D574G	probably benign	Het
Ttll10	T	A	4: 156,132,084 (GRCm39)	K117N	possibly damaging	Het
Uqcc5	A	G	14: 30,846,477 (GRCm39)		probably null	Het
Utp4	T	A	8: 107,638,907 (GRCm39)	I405K	probably damaging	Het
Vmn2r45	T	A	7: 8,474,475 (GRCm39)	Y851F	probably benign	Het
Vps33a	T	C	5: 123,703,119 (GRCm39)	D168G	probably damaging	Het

Other mutations in Erp27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Erp27	APN	6	136,886,500 (GRCm39)	missense	probably damaging	1.00
IGL01976:Erp27	APN	6	136,896,987 (GRCm39)	missense	probably damaging	0.99
IGL02348:Erp27	APN	6	136,888,544 (GRCm39)	missense	probably damaging	1.00
R0452:Erp27	UTSW	6	136,886,487 (GRCm39)	missense	probably damaging	1.00
R0498:Erp27	UTSW	6	136,896,862 (GRCm39)	unclassified	probably benign
R2055:Erp27	UTSW	6	136,885,227 (GRCm39)	splice site	probably benign
R3777:Erp27	UTSW	6	136,896,901 (GRCm39)	missense	possibly damaging	0.67
R3778:Erp27	UTSW	6	136,896,901 (GRCm39)	missense	possibly damaging	0.67
R4603:Erp27	UTSW	6	136,896,947 (GRCm39)	missense	probably damaging	0.98
R4667:Erp27	UTSW	6	136,885,150 (GRCm39)	missense	possibly damaging	0.90
R4668:Erp27	UTSW	6	136,885,150 (GRCm39)	missense	possibly damaging	0.90
R5753:Erp27	UTSW	6	136,896,875 (GRCm39)	missense	probably damaging	1.00
R5864:Erp27	UTSW	6	136,885,098 (GRCm39)	missense	probably benign	0.09
R6029:Erp27	UTSW	6	136,888,609 (GRCm39)	missense	probably damaging	0.98
R6131:Erp27	UTSW	6	136,885,201 (GRCm39)	missense	probably damaging	1.00
R7974:Erp27	UTSW	6	136,885,063 (GRCm39)	missense	probably damaging	1.00
R8781:Erp27	UTSW	6	136,886,458 (GRCm39)	nonsense	probably null
R9339:Erp27	UTSW	6	136,896,945 (GRCm39)	missense	probably benign	0.01
R9485:Erp27	UTSW	6	136,886,548 (GRCm39)	missense	possibly damaging	0.61
R9516:Erp27	UTSW	6	136,885,066 (GRCm39)	missense	probably benign	0.00
R9526:Erp27	UTSW	6	136,886,550 (GRCm39)	missense	probably benign	0.43
Z1177:Erp27	UTSW	6	136,888,644 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TAGGCCACTTAACCTTTCTGTG -3'
(R):5'- AGCTGTGCTCAGTGTCTGTC -3'

Sequencing Primer
(F):5'- GGAAGCCATGCATCTTAAAGTGTTAG -3'
(R):5'- TCTGTCTCATCTTCATAATCAAATGC -3'

Posted On

2016-12-15