Mutagenetix > Incidental Mutation

Incidental Mutation 'R0658:Pdia3'

62600

Institutional Source

Beutler Lab

Gene Symbol

Pdia3

Ensembl Gene

ENSMUSG00000027248

Gene Name

protein disulfide isomerase associated 3

Synonyms

PDI-Q2, ERp57, ERp60, ERp61, Grp58, PDI, Plca, Erp

MMRRC Submission

038843-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0658 (G1)

Quality Score

133

Status

Validated

Chromosome

Chromosomal Location

121244383-121269168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121262858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 275 (G275S)

Ref Sequence

ENSEMBL: ENSMUSP00000028683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028683] [ENSMUST00000135079]

AlphaFold

P27773

Predicted Effect

probably damaging
Transcript: ENSMUST00000028683
AA Change: G275S

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

SMART Domains

Protein: ENSMUSP00000028683
Gene: ENSMUSG00000027248
AA Change: G275S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Thioredoxin	26	131	5.2e-36	PFAM
Pfam:Thioredoxin_6	160	355	2e-29	PFAM
Pfam:Thioredoxin	377	483	9.5e-33	PFAM
low complexity region	487	503	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130450

Predicted Effect

probably benign
Transcript: ENSMUST00000135079

SMART Domains

Protein: ENSMUSP00000119337
Gene: ENSMUSG00000027248

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	3	105	5.1e-35	PFAM

Meta Mutation Damage Score

0.4603

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding of newly synthesized glycoproteins. The protein was once thought to be a phospholipase; however, it has been demonstrated that the protein actually has protein disulfide isomerase activity. It is thought that complexes of lectins and this protein mediate protein folding by promoting formation of disulfide bonds in their glycoprotein substrates. This protein also functions as a molecular chaperone that prevents the formation of protein aggregates. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a knock-out allele die by E13.5 with minor changes in ER calcium capacity and unfolded protein response in mouse embryonic fibroblasts. Mice homozygous for a gene trap allele die prior to birth while heterozygous mice exhibit abnormalbone volume bone morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	C	T	5: 100,965,827 (GRCm39)		probably null	Het
Acsl3	A	G	1: 78,679,004 (GRCm39)	D520G	probably damaging	Het
Adgrl3	T	C	5: 81,796,560 (GRCm39)	V623A	probably benign	Het
Ak9	G	T	10: 41,223,218 (GRCm39)	V454L	probably damaging	Het
Alpk2	C	A	18: 65,482,558 (GRCm39)	K483N	probably damaging	Het
Arhgef12	T	C	9: 42,893,281 (GRCm39)	Y974C	probably damaging	Het
Armc8	C	T	9: 99,418,211 (GRCm39)		probably benign	Het
Atp2a2	C	T	5: 122,595,696 (GRCm39)		probably benign	Het
Atrn	T	C	2: 130,812,147 (GRCm39)		probably null	Het
Caps2	T	A	10: 112,039,943 (GRCm39)		probably benign	Het
Cep76	A	G	18: 67,756,374 (GRCm39)	S486P	probably damaging	Het
Cep97	C	T	16: 55,735,265 (GRCm39)	R583H	probably benign	Het
Cog7	A	G	7: 121,555,363 (GRCm39)		probably benign	Het
Commd5	T	A	15: 76,784,768 (GRCm39)	V55E	probably damaging	Het
Csmd3	A	T	15: 47,874,543 (GRCm39)	D684E	possibly damaging	Het
Ctxn2	T	C	2: 124,989,376 (GRCm39)	M1T	probably null	Het
Exph5	A	G	9: 53,288,775 (GRCm39)	D1952G	unknown	Het
Fmo2	A	T	1: 162,704,343 (GRCm39)	L521Q	possibly damaging	Het
Fryl	T	A	5: 73,222,702 (GRCm39)	T1960S	probably damaging	Het
G6pd2	T	C	5: 61,967,017 (GRCm39)	L264P	probably damaging	Het
Gne	A	T	4: 44,039,033 (GRCm39)	V647E	possibly damaging	Het
Grb14	G	A	2: 64,745,071 (GRCm39)	Q96*	probably null	Het
Gtf3c1	A	G	7: 125,298,134 (GRCm39)	F146L	probably damaging	Het
Gvin3	C	A	7: 106,202,093 (GRCm39)	V384L	possibly damaging	Het
Irak2	A	G	6: 113,615,525 (GRCm39)	Y6C	probably damaging	Het
Kel	T	A	6: 41,679,965 (GRCm39)	N75I	probably damaging	Het
Lgr4	T	A	2: 109,842,132 (GRCm39)	F706I	possibly damaging	Het
Lox	A	T	18: 52,661,955 (GRCm39)	S149R	probably benign	Het
Lrrc66	T	G	5: 73,768,287 (GRCm39)	D218A	probably benign	Het
Luc7l	C	T	17: 26,485,296 (GRCm39)	R99W	probably damaging	Het
Megf10	T	C	18: 57,385,968 (GRCm39)	V327A	probably benign	Het
Mthfd1l	G	T	10: 3,997,976 (GRCm39)		probably null	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Myh8	G	T	11: 67,175,358 (GRCm39)		probably null	Het
Or5b109	A	T	19: 13,212,424 (GRCm39)	D270V	possibly damaging	Het
Pgf	C	T	12: 85,216,159 (GRCm39)	R153K	probably benign	Het
Pramel12	A	T	4: 143,144,170 (GRCm39)	Q172L	probably damaging	Het
Prdm2	A	G	4: 142,861,835 (GRCm39)	V485A	probably damaging	Het
Rag1	T	C	2: 101,473,028 (GRCm39)	T705A	probably damaging	Het
Rflna	A	C	5: 125,080,774 (GRCm39)	D48A	possibly damaging	Het
Rnf148	A	T	6: 23,654,456 (GRCm39)	I180N	probably damaging	Het
Rtn4	T	A	11: 29,656,475 (GRCm39)	S94T	probably damaging	Het
Scn11a	G	A	9: 119,640,226 (GRCm39)	T223I	probably benign	Het
Scube2	T	A	7: 109,436,327 (GRCm39)		probably benign	Het
Septin14	T	C	5: 129,774,972 (GRCm39)	I68V	probably benign	Het
Sil1	A	T	18: 35,399,910 (GRCm39)	L365Q	possibly damaging	Het
Sirt1	A	G	10: 63,157,515 (GRCm39)		probably benign	Het
Slc9a1	T	C	4: 133,147,810 (GRCm39)		probably benign	Het
Smpdl3a	A	G	10: 57,687,336 (GRCm39)	T355A	probably damaging	Het
Syne2	T	C	12: 76,141,110 (GRCm39)	I6074T	probably damaging	Het
Thbs2	T	A	17: 14,900,587 (GRCm39)	H540L	probably benign	Het
Tsc22d4	T	C	5: 137,766,283 (GRCm39)	S450P	probably benign	Het
Tshr	C	A	12: 91,505,000 (GRCm39)	S54*	probably null	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Uncx	G	T	5: 139,529,942 (GRCm39)	C65F	probably damaging	Het
Vmn1r87	A	T	7: 12,865,756 (GRCm39)	M177K	probably damaging	Het
Vmn2r56	A	T	7: 12,444,235 (GRCm39)	C466S	probably benign	Het
Wnk1	G	A	6: 119,925,466 (GRCm39)	P1831S	probably damaging	Het
Zfp820	T	C	17: 22,037,901 (GRCm39)	S476G	probably benign	Het

Other mutations in Pdia3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Pdia3	APN	2	121,244,659 (GRCm39)	missense	probably damaging	1.00
IGL00777:Pdia3	APN	2	121,260,037 (GRCm39)	missense	probably damaging	1.00
IGL02020:Pdia3	APN	2	121,266,900 (GRCm39)	splice site	probably null
IGL02437:Pdia3	APN	2	121,264,129 (GRCm39)	missense	probably damaging	1.00
IGL02988:Pdia3	UTSW	2	121,260,037 (GRCm39)	missense	probably damaging	1.00
PIT4812001:Pdia3	UTSW	2	121,264,011 (GRCm39)	missense	probably damaging	1.00
R0242:Pdia3	UTSW	2	121,244,592 (GRCm39)	missense	probably damaging	1.00
R0242:Pdia3	UTSW	2	121,244,592 (GRCm39)	missense	probably damaging	1.00
R0606:Pdia3	UTSW	2	121,262,858 (GRCm39)	missense	probably damaging	1.00
R0612:Pdia3	UTSW	2	121,262,858 (GRCm39)	missense	probably damaging	1.00
R0724:Pdia3	UTSW	2	121,262,858 (GRCm39)	missense	probably damaging	1.00
R0730:Pdia3	UTSW	2	121,262,858 (GRCm39)	missense	probably damaging	1.00
R0880:Pdia3	UTSW	2	121,262,858 (GRCm39)	missense	probably damaging	1.00
R0882:Pdia3	UTSW	2	121,262,858 (GRCm39)	missense	probably damaging	1.00
R1157:Pdia3	UTSW	2	121,262,858 (GRCm39)	missense	probably damaging	1.00
R1160:Pdia3	UTSW	2	121,262,858 (GRCm39)	missense	probably damaging	1.00
R1238:Pdia3	UTSW	2	121,262,858 (GRCm39)	missense	probably damaging	1.00
R1619:Pdia3	UTSW	2	121,262,858 (GRCm39)	missense	probably damaging	1.00
R1853:Pdia3	UTSW	2	121,262,144 (GRCm39)	missense	probably benign	0.20
R1854:Pdia3	UTSW	2	121,262,144 (GRCm39)	missense	probably benign	0.20
R2014:Pdia3	UTSW	2	121,265,301 (GRCm39)	missense	probably damaging	1.00
R2103:Pdia3	UTSW	2	121,264,474 (GRCm39)	missense	probably damaging	1.00
R4160:Pdia3	UTSW	2	121,244,596 (GRCm39)	missense	probably damaging	1.00
R4628:Pdia3	UTSW	2	121,244,620 (GRCm39)	missense	possibly damaging	0.91
R5032:Pdia3	UTSW	2	121,244,620 (GRCm39)	missense	probably benign	0.28
R5279:Pdia3	UTSW	2	121,244,484 (GRCm39)	unclassified	probably benign
R5598:Pdia3	UTSW	2	121,244,611 (GRCm39)	missense	possibly damaging	0.53
R5815:Pdia3	UTSW	2	121,266,892 (GRCm39)	nonsense	probably null
R7162:Pdia3	UTSW	2	121,260,002 (GRCm39)	missense	probably benign	0.00
R7729:Pdia3	UTSW	2	121,262,838 (GRCm39)	missense	possibly damaging	0.77
X0012:Pdia3	UTSW	2	121,266,426 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGTGTGGACCCATTACCTCTTACAGTG -3'
(R):5'- GCAGTTTCTGGAGCTATGTGTTCCC -3'

Sequencing Primer
(F):5'- GCATTGTGTTGATAATGACTTCCTC -3'
(R):5'- gtccagattagccacaaattcag -3'

Posted On

2013-07-30