Mutagenetix > Incidental Mutation

Incidental Mutation 'R1853:Pdia3'

208299

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

039877-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1853 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121244383-121269168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121262144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 205 (I205T)

Ref Sequence

ENSEMBL: ENSMUSP00000028683 (fasta)

Gene Model

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

AlphaFold

P27773

Predicted Effect

probably benign
Transcript: ENSMUST00000028683
AA Change: I205T

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028683
Gene: ENSMUSG00000027248
AA Change: I205T

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
AA Change: Y103H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119337
Gene: ENSMUSG00000027248
AA Change: Y103H

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.2%

Validation Efficiency

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	T	C	11: 69,901,696 (GRCm39)	K554E	probably damaging	Het
Acap2	C	T	16: 30,936,122 (GRCm39)	E322K	probably damaging	Het
Adam32	T	C	8: 25,388,642 (GRCm39)	Y354C	probably benign	Het
Agl	A	T	3: 116,572,971 (GRCm39)	Y789*	probably null	Het
Aida	A	G	1: 183,087,380 (GRCm39)	T68A	probably benign	Het
Aldh3b3	T	A	19: 4,015,822 (GRCm39)	L264Q	probably damaging	Het
Anks6	T	C	4: 47,049,387 (GRCm39)	T173A	probably benign	Het
Ankzf1	A	G	1: 75,174,772 (GRCm39)		probably null	Het
Apob	A	T	12: 8,060,928 (GRCm39)	K3137*	probably null	Het
Arhgef16	C	T	4: 154,375,563 (GRCm39)	V144I	probably benign	Het
Arhgef2	A	T	3: 88,540,222 (GRCm39)	T107S	possibly damaging	Het
Ark2c	T	A	18: 77,550,671 (GRCm39)	S279C	possibly damaging	Het
Atad2	G	A	15: 57,960,685 (GRCm39)	P971L	possibly damaging	Het
Atp6ap1l	T	C	13: 91,031,707 (GRCm39)	E325G	probably damaging	Het
BC035947	T	C	1: 78,475,653 (GRCm39)	N293S	possibly damaging	Het
Bhmt	C	T	13: 93,761,843 (GRCm39)	V147M	probably damaging	Het
Ccdc112	A	T	18: 46,418,767 (GRCm39)	H447Q	probably benign	Het
Cd274	T	A	19: 29,357,882 (GRCm39)	N191K	probably damaging	Het
Ckmt1	C	T	2: 121,191,131 (GRCm39)	T181I	probably damaging	Het
Cnih3	C	A	1: 181,282,186 (GRCm39)	S140*	probably null	Het
Col28a1	T	G	6: 8,014,574 (GRCm39)	I944L	probably benign	Het
Cttnbp2	T	C	6: 18,408,601 (GRCm39)	T1007A	probably benign	Het
Cux2	G	T	5: 122,007,184 (GRCm39)	P826T	possibly damaging	Het
Cyren	A	G	6: 34,852,494 (GRCm39)	V67A	probably damaging	Het
Dap3	A	T	3: 88,838,233 (GRCm39)	V86E	probably damaging	Het
Ddah1	A	G	3: 145,597,304 (GRCm39)	I180M	probably benign	Het
Ddt	T	C	10: 75,609,138 (GRCm39)	E7G	possibly damaging	Het
Dhx57	A	T	17: 80,582,308 (GRCm39)	Y432*	probably null	Het
Dpp9	T	C	17: 56,509,885 (GRCm39)	I314V	probably benign	Het
Enpp2	C	T	15: 54,709,219 (GRCm39)	E803K	probably damaging	Het
Ercc6	T	A	14: 32,298,773 (GRCm39)	I1387N	possibly damaging	Het
Fancg	T	C	4: 43,009,727 (GRCm39)	E57G	probably benign	Het
Fcgbpl1	C	T	7: 27,854,971 (GRCm39)	Q1866*	probably null	Het
Fkbp5	A	T	17: 28,648,281 (GRCm39)	C103S	possibly damaging	Het
Gm14403	C	A	2: 177,200,932 (GRCm39)	H293N	probably damaging	Het
Gm4353	G	A	7: 115,682,804 (GRCm39)	P259L	probably benign	Het
Gm4787	T	A	12: 81,425,108 (GRCm39)	H350L	probably damaging	Het
Hibch	T	C	1: 52,940,494 (GRCm39)		probably null	Het
Impg2	T	C	16: 56,080,640 (GRCm39)	S815P	probably damaging	Het
Ipo11	A	T	13: 106,997,395 (GRCm39)	I688K	probably benign	Het
Kcnd3	A	T	3: 105,367,068 (GRCm39)	T313S	probably damaging	Het
Kctd14	A	T	7: 97,102,631 (GRCm39)	S38C	possibly damaging	Het
Kdm3b	G	T	18: 34,966,446 (GRCm39)	R1660L	probably damaging	Het
Kdr	C	T	5: 76,113,565 (GRCm39)	G768S	possibly damaging	Het
Klhl2	G	A	8: 65,275,658 (GRCm39)	H82Y	probably benign	Het
Lama3	A	T	18: 12,646,762 (GRCm39)	T1759S	possibly damaging	Het
Lamb1	T	G	12: 31,368,271 (GRCm39)	C1134G	probably damaging	Het
Macf1	T	C	4: 123,406,513 (GRCm39)		probably null	Het
Mlph	C	T	1: 90,873,389 (GRCm39)	Q567*	probably null	Het
Mocos	A	C	18: 24,829,026 (GRCm39)	E777A	probably damaging	Het
Neil1	T	A	9: 57,051,999 (GRCm39)	Q214L	probably damaging	Het
Nes	A	G	3: 87,883,114 (GRCm39)	T458A	possibly damaging	Het
Nlgn1	A	T	3: 26,187,671 (GRCm39)	N71K	possibly damaging	Het
Nr4a1	T	C	15: 101,169,645 (GRCm39)	I305T	probably benign	Het
Nup58	T	C	14: 60,481,996 (GRCm39)	T123A	possibly damaging	Het
Oas1c	A	T	5: 120,946,060 (GRCm39)	V146E	probably damaging	Het
Oit3	C	T	10: 59,277,444 (GRCm39)		probably null	Het
Or12k8	A	T	2: 36,975,232 (GRCm39)	F176Y	probably damaging	Het
Or4k15c	A	G	14: 50,321,577 (GRCm39)	L187P	probably damaging	Het
Osbp	T	C	19: 11,951,255 (GRCm39)	S267P	possibly damaging	Het
Pclo	T	A	5: 14,726,698 (GRCm39)		probably benign	Het
Pde9a	C	T	17: 31,674,094 (GRCm39)	P60S	probably damaging	Het
Pdia4	A	T	6: 47,790,161 (GRCm39)	D26E	unknown	Het
Pds5a	A	G	5: 65,781,372 (GRCm39)	V1036A	possibly damaging	Het
Pitx3	C	T	19: 46,125,912 (GRCm39)	G4R	probably benign	Het
Pnn	T	A	12: 59,118,399 (GRCm39)	N327K	probably damaging	Het
Pole	T	G	5: 110,454,719 (GRCm39)	I984R	possibly damaging	Het
Psme2	T	A	14: 55,825,936 (GRCm39)	I124F	probably damaging	Het
Pstpip2	T	A	18: 77,959,499 (GRCm39)	L198Q	probably damaging	Het
Siglece	A	G	7: 43,309,360 (GRCm39)	F66S	probably benign	Het
Slc1a6	T	A	10: 78,648,758 (GRCm39)	V493E	probably damaging	Het
Snd1	T	A	6: 28,545,563 (GRCm39)	I373N	probably damaging	Het
Srrm2	A	G	17: 24,039,499 (GRCm39)	T2144A	probably damaging	Het
Sst	A	G	16: 23,709,403 (GRCm39)	L31P	probably damaging	Het
Stab1	C	T	14: 30,862,420 (GRCm39)	V2305M	probably damaging	Het
Stard9	T	C	2: 120,519,232 (GRCm39)	I545T	probably damaging	Het
Tcaim	T	C	9: 122,655,271 (GRCm39)	W248R	probably damaging	Het
Tepsin	A	C	11: 119,989,462 (GRCm39)	F13C	probably damaging	Het
Terf1	T	A	1: 15,889,162 (GRCm39)	L197*	probably null	Het
Tiam2	C	T	17: 3,465,410 (GRCm39)	R380C	probably damaging	Het
Tmem63b	G	A	17: 45,972,223 (GRCm39)	H745Y	possibly damaging	Het
Trim40	A	G	17: 37,199,970 (GRCm39)	L36P	probably damaging	Het
Trim72	A	G	7: 127,608,254 (GRCm39)	I251V	probably benign	Het
Trio	T	C	15: 27,756,622 (GRCm39)	Y914C	probably damaging	Het
Vmn2r113	G	A	17: 23,164,501 (GRCm39)	V135I	probably benign	Het
Vmn2r117	T	A	17: 23,696,429 (GRCm39)	H326L	probably damaging	Het
Vmn2r28	A	T	7: 5,484,246 (GRCm39)	C651*	probably null	Het
Xpnpep1	T	C	19: 52,994,641 (GRCm39)	E329G	probably benign	Het
Xpo4	G	A	14: 57,823,364 (GRCm39)	T1042M	possibly damaging	Het
Ypel1	A	C	16: 16,925,087 (GRCm39)	D28E	probably benign	Het
Zdbf2	GAAAAA	GAAAAAA	1: 63,344,701 (GRCm39)		probably null	Het
Zfp51	A	T	17: 21,684,585 (GRCm39)	H400L	probably damaging	Het
Zfp518b	A	T	5: 38,830,750 (GRCm39)	F418L	probably benign	Het
Zfp54	T	A	17: 21,654,404 (GRCm39)	Y299*	probably null	Het
Zfp672	T	C	11: 58,207,790 (GRCm39)	H177R	probably benign	Het
Zfp692	C	A	11: 58,200,805 (GRCm39)	P229T	possibly damaging	Het
Zswim4	A	T	8: 84,950,829 (GRCm39)	C533S	probably 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
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
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'- TAGGCAAGCACTCTGAACTACATC -3'
(R):5'- GCTTTATAAGATGTAATGGGTCCACAC -3'

Sequencing Primer
(F):5'- ACAGGTGTGTAACAATGCCTGTC -3'
(R):5'- TGTAAAATCATAACCTCTTGTATGGG -3'

Posted On

2014-06-23