Mutagenetix > Incidental Mutation

Incidental Mutation 'R0468:Pdia5'

41770

Institutional Source

Beutler Lab

Gene Symbol

Pdia5

Ensembl Gene

ENSMUSG00000022844

Gene Name

protein disulfide isomerase associated 5

Synonyms

Pdir, 2700053F16Rik

MMRRC Submission

038668-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R0468 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

35217682-35311243 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35217877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 502 (L502P)

Ref Sequence

ENSEMBL: ENSMUSP00000023550 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023550]

AlphaFold

Q921X9

Predicted Effect

probably damaging
Transcript: ENSMUST00000023550
AA Change: L502P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023550
Gene: ENSMUSG00000022844
AA Change: L502P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
PDB:4I6X\|A	27	148	3e-77	PDB
Pfam:Thioredoxin	151	257	3.8e-21	PFAM
Pfam:Thioredoxin	275	380	6.2e-26	PFAM
Pfam:Thioredoxin_7	277	366	4.8e-9	PFAM
Pfam:Thioredoxin_2	288	377	7e-10	PFAM
Pfam:AhpC-TSA	396	494	1.1e-6	PFAM
Pfam:Thioredoxin	396	502	1.3e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231779

Meta Mutation Damage Score

0.5141

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, three catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. The N-terminal TRX-like domain is the primary binding site for the major ER chaperone calreticulin and possibly other proteins and substrates as well. Alternative splicing results in multiple protein- and non-protein-coding transcript variants. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,240,084 (GRCm39)	H1298R	possibly damaging	Het
5530400C23Rik	T	C	6: 133,271,421 (GRCm39)	L155P	probably benign	Het
6820408C15Rik	A	T	2: 152,283,186 (GRCm39)	R283S	probably benign	Het
Aldh1l2	T	A	10: 83,354,542 (GRCm39)	E104D	probably benign	Het
Anxa3	T	C	5: 96,958,958 (GRCm39)	V22A	probably benign	Het
Bcl7b	T	C	5: 135,209,737 (GRCm39)	F188L	probably benign	Het
Brinp1	T	A	4: 68,681,013 (GRCm39)	I506F	probably damaging	Het
Bsdc1	T	C	4: 129,355,511 (GRCm39)		probably benign	Het
Ccdc180	T	C	4: 45,923,271 (GRCm39)	I1075T	possibly damaging	Het
Cep162	A	G	9: 87,075,750 (GRCm39)	L1294P	probably damaging	Het
Cltc	G	A	11: 86,595,452 (GRCm39)		probably benign	Het
Col11a1	T	C	3: 114,010,707 (GRCm39)		probably benign	Het
Col14a1	A	T	15: 55,252,042 (GRCm39)	Y566F	unknown	Het
Dhx29	A	G	13: 113,099,811 (GRCm39)	Q1148R	probably benign	Het
Ehbp1	A	G	11: 22,119,184 (GRCm39)		probably benign	Het
Ehd3	A	G	17: 74,112,374 (GRCm39)	H46R	probably damaging	Het
Fam171a1	T	C	2: 3,226,433 (GRCm39)	V522A	probably benign	Het
Gm4553	C	A	7: 141,719,362 (GRCm39)	C22F	unknown	Het
Hibadh	C	T	6: 52,534,755 (GRCm39)		probably benign	Het
Hspg2	G	A	4: 137,260,840 (GRCm39)	C1613Y	probably damaging	Het
Hydin	G	T	8: 111,139,855 (GRCm39)	C708F	possibly damaging	Het
Ifi208	A	T	1: 173,511,047 (GRCm39)	M401L	probably benign	Het
Igsf8	G	A	1: 172,146,363 (GRCm39)	V454M	probably damaging	Het
Irx4	G	T	13: 73,414,839 (GRCm39)		probably benign	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kcnn2	C	T	18: 45,692,538 (GRCm39)	T38M	possibly damaging	Het
L3mbtl3	C	T	10: 26,203,630 (GRCm39)	R400H	unknown	Het
Lrp6	T	C	6: 134,462,624 (GRCm39)	T679A	possibly damaging	Het
Map9	T	C	3: 82,281,510 (GRCm39)		probably null	Het
Men1	T	A	19: 6,386,953 (GRCm39)	V5E	probably null	Het
Mettl14	T	C	3: 123,165,061 (GRCm39)	D93G	probably damaging	Het
Neb	G	T	2: 52,101,568 (GRCm39)	R4601S	probably damaging	Het
Nell1	A	G	7: 49,878,594 (GRCm39)	T272A	probably damaging	Het
Or10ag53	A	T	2: 87,082,599 (GRCm39)	N106I	probably benign	Het
Or2ak6	A	T	11: 58,592,619 (GRCm39)	I31F	probably damaging	Het
Pclo	C	A	5: 14,727,302 (GRCm39)		probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Plxna4	C	A	6: 32,192,181 (GRCm39)	C803F	probably damaging	Het
Pmfbp1	A	G	8: 110,240,600 (GRCm39)		probably null	Het
Ptgs1	A	G	2: 36,139,205 (GRCm39)	Y468C	probably damaging	Het
Pxdn	G	T	12: 30,044,485 (GRCm39)	G488W	probably damaging	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Sec31b	T	A	19: 44,506,947 (GRCm39)		probably benign	Het
Shank3	G	A	15: 89,433,478 (GRCm39)	V1333I	probably benign	Het
Slamf1	A	G	1: 171,619,939 (GRCm39)		probably benign	Het
Slc23a3	T	A	1: 75,109,874 (GRCm39)	Q131L	possibly damaging	Het
Slc7a11	A	G	3: 50,338,500 (GRCm39)	V303A	probably damaging	Het
Slc7a13	T	A	4: 19,841,500 (GRCm39)	V449D	probably benign	Het
Srp68	A	T	11: 116,139,590 (GRCm39)	I453K	probably damaging	Het
Steap3	A	T	1: 120,162,030 (GRCm39)	V414D	probably damaging	Het
Tagln2	A	G	1: 172,333,788 (GRCm39)	N131D	probably benign	Het
Tmem132d	T	C	5: 128,346,267 (GRCm39)	Y85C	probably damaging	Het
Vcam1	A	T	3: 115,909,595 (GRCm39)	Y577*	probably null	Het
Vmn1r214	A	G	13: 23,219,423 (GRCm39)	T306A	probably benign	Het
Zfyve1	A	T	12: 83,602,048 (GRCm39)		probably benign	Het
Zgrf1	T	A	3: 127,355,690 (GRCm39)	N305K	possibly damaging	Het

Other mutations in Pdia5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0334:Pdia5	UTSW	16	35,284,760 (GRCm39)	missense	possibly damaging	0.81
R4734:Pdia5	UTSW	16	35,276,883 (GRCm39)	missense	probably benign	0.00
R4898:Pdia5	UTSW	16	35,230,786 (GRCm39)	missense	possibly damaging	0.58
R5241:Pdia5	UTSW	16	35,250,145 (GRCm39)	missense	probably benign	0.00
R5410:Pdia5	UTSW	16	35,273,906 (GRCm39)	missense	probably damaging	0.99
R5581:Pdia5	UTSW	16	35,269,812 (GRCm39)	missense	probably benign	0.22
R5811:Pdia5	UTSW	16	35,269,790 (GRCm39)	missense	possibly damaging	0.48
R5898:Pdia5	UTSW	16	35,243,335 (GRCm39)	missense	probably damaging	1.00
R6047:Pdia5	UTSW	16	35,217,848 (GRCm39)	missense	probably damaging	1.00
R6278:Pdia5	UTSW	16	35,250,293 (GRCm39)	missense	possibly damaging	0.78
R7089:Pdia5	UTSW	16	35,228,049 (GRCm39)	missense	probably benign
R7308:Pdia5	UTSW	16	35,276,879 (GRCm39)	missense	probably damaging	1.00
R7385:Pdia5	UTSW	16	35,250,284 (GRCm39)	missense	probably damaging	0.99
R8726:Pdia5	UTSW	16	35,269,784 (GRCm39)	missense	probably damaging	1.00
R9306:Pdia5	UTSW	16	35,250,353 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GCTCGTGAAAACATACTCTACCACTGAA -3'
(R):5'- TGCCATAGCCAGTAGTGTCTCCC -3'

Sequencing Primer
(F):5'- AACATACTCTACCACTGAATAAATGG -3'
(R):5'- cctcctctgacaccccc -3'

Posted On

2013-05-23