Mutagenetix > Incidental Mutation

Incidental Mutation 'R2014:Pdia3'

222512

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

040023-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2014 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121244383-121269168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121265301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 390 (V390A)

Ref Sequence

ENSEMBL: ENSMUSP00000028683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028679] [ENSMUST00000028683] [ENSMUST00000116432] [ENSMUST00000135079]

AlphaFold

P27773

Predicted Effect

probably benign
Transcript: ENSMUST00000028679

SMART Domains

Protein: ENSMUSP00000028679
Gene: ENSMUSG00000027246

Domain	Start	End	E-Value	Type
Pfam:ELL	15	123	2e-13	PFAM
low complexity region	240	261	N/A	INTRINSIC
low complexity region	269	281	N/A	INTRINSIC
Pfam:Occludin_ELL	289	390	3.8e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000028683
AA Change: V390A

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

SMART Domains

Protein: ENSMUSP00000028683
Gene: ENSMUSG00000027248
AA Change: V390A

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

probably benign
Transcript: ENSMUST00000116432

SMART Domains

Protein: ENSMUSP00000112133
Gene: ENSMUSG00000027246

Domain	Start	End	E-Value	Type
Pfam:ELL	5	247	1.3e-43	PFAM
low complexity region	269	281	N/A	INTRINSIC
Pfam:Occludin_ELL	289	390	1.8e-35	PFAM

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140752

SMART Domains

Protein: ENSMUSP00000116676
Gene: ENSMUSG00000046110

Domain	Start	End	E-Value	Type
Pfam:Serinc	2	78	7.3e-14	PFAM

Meta Mutation Damage Score

0.8275

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

96% (105/109)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	G	17: 48,347,723 (GRCm39)	T194P	possibly damaging	Het
Aadacl4fm5	A	T	4: 144,506,295 (GRCm39)	L132Q	probably damaging	Het
Acsbg2	T	A	17: 57,160,855 (GRCm39)	K263M	possibly damaging	Het
Adcy8	C	T	15: 64,639,727 (GRCm39)	G678S	probably benign	Het
Adgrl2	C	T	3: 148,532,111 (GRCm39)	G1041R	probably damaging	Het
Ahnak	T	C	19: 8,990,545 (GRCm39)	I3943T	probably damaging	Het
Aire	T	C	10: 77,878,792 (GRCm39)	D85G	probably damaging	Het
Alkbh8	C	T	9: 3,343,216 (GRCm39)	Q36*	probably null	Het
Amer3	T	C	1: 34,618,525 (GRCm39)		probably benign	Het
Angptl8	T	C	9: 21,748,358 (GRCm39)		probably null	Het
Ankmy1	T	C	1: 92,812,863 (GRCm39)	D482G	probably benign	Het
Apc	A	G	18: 34,448,644 (GRCm39)	I1813V	probably damaging	Het
Asb13	T	G	13: 3,699,512 (GRCm39)		probably null	Het
Blm	T	C	7: 80,152,147 (GRCm39)	E600G	probably damaging	Het
Cd163	G	T	6: 124,302,457 (GRCm39)	W1007L	probably damaging	Het
Cdr1	A	G	X: 60,228,420 (GRCm39)	F249L	probably benign	Het
Cp	A	G	3: 20,041,598 (GRCm39)	K44E	probably benign	Het
Crtap	C	A	9: 114,210,653 (GRCm39)		probably null	Het
Ctsk	A	G	3: 95,414,003 (GRCm39)	D250G	probably damaging	Het
Dcp2	T	C	18: 44,543,363 (GRCm39)	V307A	probably benign	Het
Dnah6	T	A	6: 73,150,402 (GRCm39)	D787V	probably damaging	Het
Dtx3l	G	A	16: 35,756,797 (GRCm39)	H129Y	probably benign	Het
Ece2	A	G	16: 20,461,067 (GRCm39)	T442A	probably benign	Het
Espl1	C	T	15: 102,231,149 (GRCm39)	R17*	probably null	Het
Espn	G	T	4: 152,217,416 (GRCm39)		probably null	Het
Fam20b	C	T	1: 156,533,511 (GRCm39)	R35Q	possibly damaging	Het
Fga	A	G	3: 82,940,064 (GRCm39)	I573V	probably damaging	Het
Fmo5	A	G	3: 97,542,998 (GRCm39)	K103E	possibly damaging	Het
Frem1	A	T	4: 82,924,089 (GRCm39)	V291D	probably damaging	Het
Gabbr1	A	G	17: 37,367,674 (GRCm39)		probably null	Het
Gjb6	T	C	14: 57,362,213 (GRCm39)	H16R	probably damaging	Het
Grina	T	C	15: 76,132,734 (GRCm39)	V167A	probably damaging	Het
Gulo	T	A	14: 66,246,496 (GRCm39)	M1L	probably benign	Het
Hcfc2	A	G	10: 82,574,814 (GRCm39)	N618D	probably benign	Het
Heatr5b	T	C	17: 79,121,613 (GRCm39)	D704G	probably damaging	Het
Hlcs	A	G	16: 94,063,599 (GRCm39)	V487A	probably benign	Het
Hps1	G	A	19: 42,750,951 (GRCm39)	P350S	probably benign	Het
Hspa9	A	T	18: 35,079,701 (GRCm39)	Y243N	probably damaging	Het
Igll1	A	G	16: 16,681,639 (GRCm39)	S39P	probably benign	Het
Kif21b	T	C	1: 136,076,020 (GRCm39)	F270L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Krt27	A	G	11: 99,240,318 (GRCm39)	V200A	probably benign	Het
Lama3	T	C	18: 12,657,778 (GRCm39)		probably benign	Het
Lmcd1	T	C	6: 112,305,702 (GRCm39)	W268R	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Mamdc4	T	A	2: 25,453,584 (GRCm39)	D1195V	probably damaging	Het
Map2	T	C	1: 66,455,295 (GRCm39)	V1395A	possibly damaging	Het
Map3k20	C	T	2: 72,268,604 (GRCm39)	T537M	probably benign	Het
Mdga1	A	G	17: 30,068,287 (GRCm39)	S276P	probably damaging	Het
Mep1a	T	C	17: 43,808,797 (GRCm39)	N85D	probably benign	Het
Mettl16	A	G	11: 74,708,195 (GRCm39)	S425G	probably benign	Het
Mthfd1l	A	G	10: 3,997,894 (GRCm39)	T622A	probably benign	Het
Nbeal2	G	A	9: 110,463,139 (GRCm39)	L1309F	probably benign	Het
Nde1	A	T	16: 13,987,321 (GRCm39)		probably benign	Het
Nhsl1	A	T	10: 18,387,340 (GRCm39)	R205W	probably damaging	Het
Nlrc5	A	G	8: 95,252,138 (GRCm39)		probably benign	Het
Notch3	C	A	17: 32,376,974 (GRCm39)	E310D	probably benign	Het
Or2f1	A	G	6: 42,721,784 (GRCm39)	E271G	probably damaging	Het
Or4p19	T	C	2: 88,242,388 (GRCm39)	T205A	probably benign	Het
Or5ak24	T	A	2: 85,260,696 (GRCm39)	H159L	possibly damaging	Het
Or7a39	T	C	10: 78,715,222 (GRCm39)	I72T	possibly damaging	Het
Osbpl5	C	A	7: 143,295,429 (GRCm39)	C11F	probably damaging	Het
P4hb	T	C	11: 120,453,522 (GRCm39)	E381G	probably damaging	Het
Pax4	A	G	6: 28,446,209 (GRCm39)	Y95H	probably benign	Het
Pigv	A	C	4: 133,390,034 (GRCm39)	D49E	possibly damaging	Het
Pik3c2a	T	A	7: 115,950,166 (GRCm39)		probably null	Het
Plxnb1	T	A	9: 108,935,687 (GRCm39)		probably benign	Het
Polq	A	G	16: 36,898,728 (GRCm39)	T2163A	probably damaging	Het
Pou5f2	T	C	13: 78,173,972 (GRCm39)	S305P	probably benign	Het
Ppm1h	A	T	10: 122,756,630 (GRCm39)	H425L	possibly damaging	Het
Ppp1r13b	G	T	12: 111,800,222 (GRCm39)	D518E	probably benign	Het
Prf1	A	T	10: 61,139,674 (GRCm39)	D544V	probably benign	Het
Prl3b1	T	C	13: 27,431,948 (GRCm39)	F158L	probably benign	Het
Prss41	C	T	17: 24,056,464 (GRCm39)		probably null	Het
Prune2	T	G	19: 17,097,887 (GRCm39)	N1130K	probably damaging	Het
Ptgdr2	T	C	19: 10,917,789 (GRCm39)	F102S	probably damaging	Het
Ptprq	T	G	10: 107,503,283 (GRCm39)	K792Q	probably damaging	Het
Pttg1ip2	T	A	5: 5,505,964 (GRCm39)	I106L	probably benign	Het
Rcbtb2	T	C	14: 73,411,826 (GRCm39)		probably benign	Het
Rgs14	C	A	13: 55,531,513 (GRCm39)	S479*	probably null	Het
Sash1	A	T	10: 8,605,177 (GRCm39)	V1071D	probably benign	Het
Sdsl	G	A	5: 120,601,218 (GRCm39)	T18M	probably damaging	Het
Sepsecs	T	A	5: 52,804,966 (GRCm39)	Q365L	probably benign	Het
Sh2d4a	A	T	8: 68,783,735 (GRCm39)	Q223L	probably damaging	Het
Slc14a2	T	C	18: 78,193,601 (GRCm39)		probably benign	Het
Slc5a9	A	C	4: 111,753,546 (GRCm39)	S52A	possibly damaging	Het
Slc6a18	C	A	13: 73,823,844 (GRCm39)	V99L	probably benign	Het
Smarca2	T	C	19: 26,661,305 (GRCm39)	S967P	possibly damaging	Het
Tbc1d22a	C	T	15: 86,183,885 (GRCm39)	T248M	probably damaging	Het
Tcte1	A	T	17: 45,852,237 (GRCm39)	N490I	probably benign	Het
Tet3	T	C	6: 83,363,057 (GRCm39)	E705G	probably damaging	Het
Tfeb	T	A	17: 48,102,484 (GRCm39)	H450Q	probably damaging	Het
Tmem248	G	A	5: 130,260,653 (GRCm39)	E73K	probably damaging	Het
Trip12	A	T	1: 84,738,587 (GRCm39)	L756*	probably null	Het
Try5	C	T	6: 41,291,585 (GRCm39)		probably null	Het
Tsc1	A	T	2: 28,555,649 (GRCm39)		probably benign	Het
Tspear	G	A	10: 77,710,954 (GRCm39)		probably benign	Het
Ttc6	T	C	12: 57,623,003 (GRCm39)	I134T	possibly damaging	Het
Ttn	T	A	2: 76,585,640 (GRCm39)		probably null	Het
Ube3b	A	G	5: 114,549,210 (GRCm39)	E738G	probably damaging	Het
Usp36	T	C	11: 118,153,334 (GRCm39)		probably benign	Het
Vmn2r71	T	A	7: 85,269,845 (GRCm39)	M452K	probably benign	Het
Vps13b	T	C	15: 35,607,288 (GRCm39)	S1074P	probably damaging	Het
Vps13d	A	G	4: 144,835,078 (GRCm39)	S2757P	probably damaging	Het
Vwde	C	A	6: 13,208,337 (GRCm39)	G182C	possibly damaging	Het
Wdr33	T	C	18: 31,966,652 (GRCm39)	V164A	probably damaging	Het
Zkscan16	A	G	4: 58,956,525 (GRCm39)	Y269C	possibly damaging	Het
Zup1	A	G	10: 33,805,820 (GRCm39)	V437A	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
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
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'- CATAGTTTGACAGGAATAGCTGTG -3'
(R):5'- GGCAGTCAAGACCAAGTGTG -3'

Sequencing Primer
(F):5'- AATAGCTGTGAGGGTAAGTTGGATC -3'
(R):5'- CAGTCAAGACCAAGTGTGTAAAC -3'

Posted On

2014-08-25