Mutagenetix > Incidental Mutation

Incidental Mutation 'R5279:Pdia3'

404088

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

042839-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5279 (G1)

Quality Score

146

Status

Validated

Chromosome

Chromosomal Location

121244383-121269168 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 121244484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028683] [ENSMUST00000038073] [ENSMUST00000135079] [ENSMUST00000154604]

AlphaFold

P27773

Predicted Effect

probably benign
Transcript: ENSMUST00000028683

SMART Domains

Protein: ENSMUSP00000028683
Gene: ENSMUSG00000027248

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: ENSMUST00000038073

SMART Domains

Protein: ENSMUSP00000037222
Gene: ENSMUSG00000033486

Domain	Start	End	E-Value	Type
low complexity region	78	91	N/A	INTRINSIC
Pfam:Ion_trans	105	350	1e-35	PFAM
low complexity region	422	447	N/A	INTRINSIC
internal_repeat_1	450	473	3.72e-11	PROSPERO
internal_repeat_1	465	488	3.72e-11	PROSPERO
low complexity region	491	502	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123982

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

noncoding transcript
Transcript: ENSMUST00000153378

Predicted Effect

probably benign
Transcript: ENSMUST00000154604

SMART Domains

Protein: ENSMUSP00000119091
Gene: ENSMUSG00000033486

Domain	Start	End	E-Value	Type
low complexity region	78	91	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (73/74)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	A	17: 24,508,388 (GRCm39)	G1049V	probably damaging	Het
Afdn	G	A	17: 14,109,214 (GRCm39)	R1579H	probably damaging	Het
Ankrd28	T	A	14: 31,456,963 (GRCm39)	N386Y	probably damaging	Het
Atf7ip	T	A	6: 136,580,377 (GRCm39)	Y1100*	probably null	Het
Atp9b	T	A	18: 80,956,073 (GRCm39)	E3V	probably damaging	Het
AW554918	T	G	18: 25,308,488 (GRCm39)	D60E	possibly damaging	Het
Baz2b	G	T	2: 59,762,496 (GRCm39)	Q927K	probably damaging	Het
Birc6	A	G	17: 74,957,042 (GRCm39)	R3659G	probably damaging	Het
C8a	T	G	4: 104,703,185 (GRCm39)	N291H	probably damaging	Het
Calcoco1	G	A	15: 102,619,420 (GRCm39)	L390F	probably damaging	Het
Carmil3	A	G	14: 55,739,028 (GRCm39)	D894G	probably damaging	Het
Cdc20	A	G	4: 118,290,711 (GRCm39)	Y430H	probably damaging	Het
Cdc6	A	T	11: 98,803,088 (GRCm39)	I316F	probably damaging	Het
Ceacam23	T	A	7: 17,607,214 (GRCm39)		noncoding transcript	Het
Cenpu	T	A	8: 47,031,945 (GRCm39)		probably null	Het
Csmd2	T	A	4: 128,350,707 (GRCm39)	V1592D	probably benign	Het
Csmd3	G	T	15: 48,655,340 (GRCm39)		probably null	Het
Dnah7c	T	C	1: 46,558,429 (GRCm39)	F512L	probably benign	Het
Fam136a	T	A	6: 86,343,686 (GRCm39)	L61Q	probably damaging	Het
Fpgs	A	C	2: 32,582,779 (GRCm39)		probably benign	Het
Fzd4	G	A	7: 89,056,881 (GRCm39)	M309I	probably benign	Het
Gad2	A	G	2: 22,563,969 (GRCm39)	T391A	probably benign	Het
Gm11563	A	T	11: 99,549,539 (GRCm39)	S72T	unknown	Het
Gon4l	A	G	3: 88,794,944 (GRCm39)	I716V	probably benign	Het
Itga9	T	C	9: 118,457,273 (GRCm39)	V128A	probably damaging	Het
Kat6a	CGCAGCAGCAGCAGCAGCA	CGCAGCAGCAGCA	8: 23,429,664 (GRCm39)		probably benign	Het
Lrrc9	T	A	12: 72,542,368 (GRCm39)	D1063E	possibly damaging	Het
Lyst	T	A	13: 13,823,387 (GRCm39)	L1453*	probably null	Het
Mcm3ap	T	C	10: 76,343,373 (GRCm39)	V1755A	probably damaging	Het
Mrc1	T	C	2: 14,314,869 (GRCm39)	S985P	probably damaging	Het
Mst1	A	C	9: 107,959,414 (GRCm39)	K233N	probably damaging	Het
Nr2c2ap	G	A	8: 70,584,653 (GRCm39)	D42N	probably damaging	Het
Ntn1	A	G	11: 68,276,538 (GRCm39)	S137P	probably benign	Het
Pard3	T	C	8: 128,186,867 (GRCm39)		probably null	Het
Pcdh15	T	A	10: 74,430,015 (GRCm39)	D1210E	probably damaging	Het
Pcdhga5	T	C	18: 37,827,774 (GRCm39)	L74P	probably benign	Het
Pcsk5	T	C	19: 17,573,022 (GRCm39)		probably null	Het
Pikfyve	A	T	1: 65,235,858 (GRCm39)	R177*	probably null	Het
Pklr	A	G	3: 89,050,566 (GRCm39)	E409G	probably damaging	Het
Plod2	T	C	9: 92,463,376 (GRCm39)	Y154H	probably damaging	Het
Psmc3	T	A	2: 90,884,667 (GRCm39)	D6E	probably benign	Het
Ptpru	T	A	4: 131,547,334 (GRCm39)	N205I	possibly damaging	Het
Rbm6	T	C	9: 107,655,213 (GRCm39)	E1006G	probably benign	Het
Rgl2	T	C	17: 34,154,922 (GRCm39)	V642A	probably benign	Het
Rnf8	T	A	17: 29,845,680 (GRCm39)	H104Q	possibly damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Rpa1	T	C	11: 75,204,170 (GRCm39)	N269S	probably damaging	Het
Sdk2	A	G	11: 113,757,857 (GRCm39)	M519T	probably benign	Het
Snx30	A	G	4: 59,885,070 (GRCm39)	S237G	probably benign	Het
Spx	A	G	6: 142,359,766 (GRCm39)	N36S	probably damaging	Het
Stard7	T	C	2: 127,137,416 (GRCm39)	Y289H	probably damaging	Het
Sugp2	T	C	8: 70,709,757 (GRCm39)		probably benign	Het
Susd4	C	T	1: 182,715,043 (GRCm39)	T288I	probably damaging	Het
Tceanc2	T	A	4: 107,034,826 (GRCm39)		probably null	Het
Tm4sf4	T	G	3: 57,341,159 (GRCm39)	V97G	probably benign	Het
Tmtc1	C	T	6: 148,256,629 (GRCm39)		probably benign	Het
Trappc11	C	T	8: 47,958,339 (GRCm39)		probably benign	Het
Triobp	G	T	15: 78,878,591 (GRCm39)	V398F	possibly damaging	Het
Ttll9	T	A	2: 152,804,464 (GRCm39)	S2T	possibly damaging	Het
Ttn	T	C	2: 76,731,320 (GRCm39)		probably benign	Het
Tyw3	A	G	3: 154,300,108 (GRCm39)	C80R	probably damaging	Het
Usp24	T	C	4: 106,242,621 (GRCm39)	V1177A	possibly damaging	Het
Vmn1r65	A	G	7: 6,011,754 (GRCm39)	V160A	probably damaging	Het
Vmn2r104	T	A	17: 20,262,146 (GRCm39)	H328L	probably benign	Het
Vmn2r65	A	C	7: 84,589,849 (GRCm39)	I689S	probably damaging	Het
Wrn	A	G	8: 33,731,129 (GRCm39)	Y1068H	probably damaging	Het
Xpo4	C	A	14: 57,850,866 (GRCm39)	S346I	probably benign	Het
Zc3h3	T	A	15: 75,711,439 (GRCm39)	T341S	probably benign	Het
Zxdc	T	C	6: 90,347,419 (GRCm39)	M260T	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
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
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'- CAATCGGCAGTTACCAGCTG -3'
(R):5'- TACCCTGGAGTTTAGGCTTTC -3'

Sequencing Primer
(F):5'- GCAGTTACCAGCTGTTCCG -3'
(R):5'- AGCCAGGCCTGCTAGATAGTG -3'

Posted On

2016-07-22