Mutagenetix > Incidental Mutation

Incidental Mutation 'R0730:Pdia3'

67440

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

038911-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0730 (G1)

Quality Score

225

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: 97.8%
20x: 96.1%

Validation Efficiency

99% (99/100)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	A	T	8: 25,486,774 (GRCm39)	I168N	probably benign	Het
Adamts20	G	A	15: 94,245,571 (GRCm39)	A577V	probably benign	Het
Agtr1a	A	T	13: 30,565,279 (GRCm39)	S115C	probably damaging	Het
Ankrd11	T	C	8: 123,618,692 (GRCm39)	Y1720C	probably damaging	Het
Ano6	A	T	15: 95,818,252 (GRCm39)	T353S	probably damaging	Het
App	A	G	16: 84,876,840 (GRCm39)	F184L	probably damaging	Het
Arhgef38	T	A	3: 132,843,232 (GRCm39)	Y446F	probably benign	Het
Aspg	T	A	12: 112,078,693 (GRCm39)	Y57*	probably null	Het
Atp1a4	G	A	1: 172,067,774 (GRCm39)		probably benign	Het
Bdp1	G	A	13: 100,195,459 (GRCm39)		probably benign	Het
Bicd2	T	A	13: 49,531,717 (GRCm39)	S246T	possibly damaging	Het
Brd10	T	A	19: 29,695,381 (GRCm39)	I1438F	probably benign	Het
Bsn	T	A	9: 107,984,011 (GRCm39)	M3348L	unknown	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Cacna2d3	T	C	14: 28,704,322 (GRCm39)	I820V	probably benign	Het
Cdc40	A	G	10: 40,720,952 (GRCm39)		probably benign	Het
Cdh23	T	C	10: 60,159,493 (GRCm39)	E2094G	probably damaging	Het
Celsr2	T	A	3: 108,305,922 (GRCm39)	N2061Y	probably damaging	Het
Cfap206	G	A	4: 34,711,391 (GRCm39)	A502V	probably benign	Het
Cfap54	T	C	10: 92,870,599 (GRCm39)	T29A	probably benign	Het
Cfap57	T	C	4: 118,470,117 (GRCm39)		probably null	Het
Chd5	A	G	4: 152,432,441 (GRCm39)	E43G	possibly damaging	Het
Clk1	G	A	1: 58,453,558 (GRCm39)	H343Y	probably benign	Het
Cntn4	A	C	6: 106,527,447 (GRCm39)	K443T	probably damaging	Het
Csn2	G	A	5: 87,842,811 (GRCm39)	A72V	possibly damaging	Het
Ctdp1	T	A	18: 80,493,457 (GRCm39)	H346L	probably benign	Het
Ctif	A	T	18: 75,698,083 (GRCm39)	N192K	probably damaging	Het
Ddr2	G	A	1: 169,823,135 (GRCm39)	A383V	probably benign	Het
Derl3	C	T	10: 75,731,076 (GRCm39)		probably benign	Het
Dgkh	T	C	14: 78,821,919 (GRCm39)	I865V	probably damaging	Het
Dip2b	C	T	15: 100,069,532 (GRCm39)	A619V	probably damaging	Het
Elapor1	T	A	3: 108,376,851 (GRCm39)	H509L	probably benign	Het
Eml1	A	G	12: 108,496,585 (GRCm39)	T614A	possibly damaging	Het
Eogt	G	C	6: 97,092,970 (GRCm39)	Y402*	probably null	Het
Erbb4	A	G	1: 68,298,449 (GRCm39)	V647A	probably damaging	Het
Esm1	G	T	13: 113,350,036 (GRCm39)		probably null	Het
Fbxo31	A	G	8: 122,282,103 (GRCm39)		probably benign	Het
Fbxw5	T	A	2: 25,394,630 (GRCm39)	D201E	possibly damaging	Het
Fgfr1	G	A	8: 26,045,760 (GRCm39)	D123N	probably benign	Het
G530012D18Rik	A	C	1: 85,504,757 (GRCm39)		probably benign	Het
Gnat1	G	A	9: 107,556,662 (GRCm39)	T29I	probably damaging	Het
Gtf2ird2	A	T	5: 134,221,597 (GRCm39)	R67*	probably null	Het
Il22b	A	T	10: 118,130,142 (GRCm39)	D87E	probably benign	Het
Kcnq3	T	C	15: 65,867,457 (GRCm39)	T729A	probably benign	Het
Klrc2	A	T	6: 129,635,659 (GRCm39)	S156R	probably damaging	Het
Krt76	A	T	15: 101,795,784 (GRCm39)	L462Q	probably damaging	Het
Lama3	C	A	18: 12,589,907 (GRCm39)		probably benign	Het
Lin28a	A	T	4: 133,735,319 (GRCm39)	S56T	probably damaging	Het
Macf1	A	G	4: 123,276,323 (GRCm39)		probably benign	Het
Macrod2	C	T	2: 142,059,594 (GRCm39)		probably benign	Het
Mansc1	C	T	6: 134,594,424 (GRCm39)		probably benign	Het
Map1b	G	T	13: 99,566,274 (GRCm39)	S2149*	probably null	Het
Mgst1	A	T	6: 138,124,667 (GRCm39)	T34S	probably benign	Het
Mlf2	C	T	6: 124,911,354 (GRCm39)	T123M	probably damaging	Het
Mospd2	C	T	X: 163,731,253 (GRCm39)		probably benign	Het
Mrpl15	A	T	1: 4,847,834 (GRCm39)	V155E	probably damaging	Het
Mstn	A	T	1: 53,100,953 (GRCm39)	Y10F	possibly damaging	Het
Myo1g	C	T	11: 6,470,794 (GRCm39)	V21M	probably damaging	Het
Myom2	T	C	8: 15,149,326 (GRCm39)	I599T	probably benign	Het
Ndc80	A	T	17: 71,803,241 (GRCm39)	N633K	probably benign	Het
Nhs	C	A	X: 160,620,296 (GRCm39)	V1487L	possibly damaging	Het
Npc1	T	C	18: 12,352,382 (GRCm39)	T106A	probably benign	Het
Nup133	C	T	8: 124,675,747 (GRCm39)	V57M	probably benign	Het
Nup98	T	A	7: 101,809,923 (GRCm39)	T536S	probably damaging	Het
Oprm1	T	C	10: 6,782,652 (GRCm39)		probably benign	Het
Or5j1	T	C	2: 86,879,492 (GRCm39)	I29M	probably benign	Het
Or6c219	T	A	10: 129,780,980 (GRCm39)	H317L	probably benign	Het
Or8j3	A	G	2: 86,029,069 (GRCm39)	V9A	probably benign	Het
Ostf1	C	T	19: 18,581,571 (GRCm39)	V14I	unknown	Het
Pcdhb14	C	A	18: 37,581,921 (GRCm39)	D342E	probably damaging	Het
Pdpr	T	C	8: 111,852,387 (GRCm39)		probably null	Het
Plce1	G	A	19: 38,705,135 (GRCm39)	V847M	probably damaging	Het
Pon3	A	G	6: 5,230,444 (GRCm39)	M288T	probably benign	Het
Psd2	A	T	18: 36,111,627 (GRCm39)	D84V	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ralgapa1	T	C	12: 55,712,448 (GRCm39)	K1808E	probably damaging	Het
Ramp3	T	C	11: 6,626,476 (GRCm39)		probably benign	Het
Rasgrf1	T	A	9: 89,833,062 (GRCm39)		probably benign	Het
Rictor	A	G	15: 6,803,467 (GRCm39)		probably benign	Het
Rptor	A	T	11: 119,775,780 (GRCm39)	I984F	probably benign	Het
Slc1a6	C	T	10: 78,631,842 (GRCm39)	P223S	probably benign	Het
Taar8b	A	C	10: 23,967,924 (GRCm39)	V90G	probably damaging	Het
Tbc1d21	A	G	9: 58,267,160 (GRCm39)	V327A	probably benign	Het
Tex21	T	C	12: 76,250,940 (GRCm39)	T499A	probably benign	Het
Tg	A	T	15: 66,550,638 (GRCm39)	D256V	probably damaging	Het
Tmf1	A	G	6: 97,153,453 (GRCm39)	S207P	probably benign	Het
Tpr	A	G	1: 150,269,158 (GRCm39)		probably benign	Het
Ufd1	A	G	16: 18,633,637 (GRCm39)	T21A	probably damaging	Het
Unc13a	T	C	8: 72,108,929 (GRCm39)	D115G	possibly damaging	Het
Usb1	T	A	8: 96,070,669 (GRCm39)	F198L	probably damaging	Het
Utrn	A	T	10: 12,573,902 (GRCm39)		probably benign	Het
Vars1	A	G	17: 35,233,276 (GRCm39)	N954S	probably damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Wdr33	C	T	18: 31,968,429 (GRCm39)		probably benign	Het
Zfp236	A	G	18: 82,658,369 (GRCm39)		probably benign	Het
Zfp445	A	T	9: 122,690,823 (GRCm39)	V124E	probably damaging	Het
Zfp616	A	T	11: 73,975,648 (GRCm39)	H639L	probably damaging	Het
Zfyve16	C	A	13: 92,657,985 (GRCm39)	S642I	probably damaging	Het
Zswim5	C	T	4: 116,842,943 (GRCm39)	T896I	possibly damaging	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
R0658: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
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

2013-09-03