Mutagenetix > Incidental Mutation

Incidental Mutation 'R3950:Pdia2'

307901

Institutional Source

Beutler Lab

Gene Symbol

Pdia2

Ensembl Gene

ENSMUSG00000024184

Gene Name

protein disulfide isomerase associated 2

Synonyms

Pdipl, 1810041F13Rik, Pdip

MMRRC Submission

040930-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R3950 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26195999-26199087 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 26197616 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025019] [ENSMUST00000039113] [ENSMUST00000039113] [ENSMUST00000074370] [ENSMUST00000118904] [ENSMUST00000120333] [ENSMUST00000120333] [ENSMUST00000121959] [ENSMUST00000163421] [ENSMUST00000176961]

AlphaFold

D3Z6P0

Predicted Effect

probably benign
Transcript: ENSMUST00000025019

SMART Domains

Protein: ENSMUSP00000025019
Gene: ENSMUSG00000073433

Domain	Start	End	E-Value	Type
low complexity region	6	28	N/A	INTRINSIC
Pfam:Rho_GDI	29	222	1.2e-60	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000039113

SMART Domains

Protein: ENSMUSP00000035584
Gene: ENSMUSG00000024184

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Thioredoxin	46	153	1.5e-26	PFAM
Pfam:Thioredoxin_6	182	369	3.2e-37	PFAM
Pfam:Thioredoxin	392	497	2.4e-27	PFAM
low complexity region	501	515	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000039113

SMART Domains

Protein: ENSMUSP00000035584
Gene: ENSMUSG00000024184

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Thioredoxin	46	153	1.5e-26	PFAM
Pfam:Thioredoxin_6	182	369	3.2e-37	PFAM
Pfam:Thioredoxin	392	497	2.4e-27	PFAM
low complexity region	501	515	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074370

SMART Domains

Protein: ENSMUSP00000073974
Gene: ENSMUSG00000024182

Domain	Start	End	E-Value	Type
Pfam:AXIN1_TNKS_BD	13	85	7.5e-27	PFAM
RGS	93	216	3.03e-36	SMART
low complexity region	230	241	N/A	INTRINSIC
low complexity region	330	344	N/A	INTRINSIC
coiled coil region	394	432	N/A	INTRINSIC
Pfam:Axin_b-cat_bind	468	523	3.2e-13	PFAM
low complexity region	533	544	N/A	INTRINSIC
low complexity region	699	709	N/A	INTRINSIC
low complexity region	713	727	N/A	INTRINSIC
DAX	786	868	5.92e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118904

SMART Domains

Protein: ENSMUSP00000113756
Gene: ENSMUSG00000024182

Domain	Start	End	E-Value	Type
RGS	93	216	3.03e-36	SMART
low complexity region	230	241	N/A	INTRINSIC
low complexity region	330	344	N/A	INTRINSIC
coiled coil region	394	432	N/A	INTRINSIC
Pfam:Axin_b-cat_bind	468	502	1.2e-18	PFAM
low complexity region	533	544	N/A	INTRINSIC
low complexity region	699	709	N/A	INTRINSIC
coiled coil region	712	734	N/A	INTRINSIC
DAX	750	832	5.92e-45	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000120333

SMART Domains

Protein: ENSMUSP00000114080
Gene: ENSMUSG00000024184

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Thioredoxin	46	153	2.6e-27	PFAM
Pfam:Thioredoxin_6	181	366	2e-37	PFAM
Pfam:Thioredoxin	389	494	7.2e-28	PFAM
low complexity region	498	512	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000120333

SMART Domains

Protein: ENSMUSP00000114080
Gene: ENSMUSG00000024184

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Thioredoxin	46	153	2.6e-27	PFAM
Pfam:Thioredoxin_6	181	366	2e-37	PFAM
Pfam:Thioredoxin	389	494	7.2e-28	PFAM
low complexity region	498	512	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121959

SMART Domains

Protein: ENSMUSP00000113186
Gene: ENSMUSG00000073433

Domain	Start	End	E-Value	Type
Pfam:Rho_GDI	14	197	6.4e-65	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000142410

SMART Domains

Protein: ENSMUSP00000115267
Gene: ENSMUSG00000024184

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	38	145	3.8e-25	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000142410

SMART Domains

Protein: ENSMUSP00000115267
Gene: ENSMUSG00000024184

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	38	145	3.8e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148134

SMART Domains

Protein: ENSMUSP00000116340
Gene: ENSMUSG00000024184

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	19	124	2e-28	PFAM
low complexity region	128	142	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155556

Predicted Effect

probably benign
Transcript: ENSMUST00000163421

SMART Domains

Protein: ENSMUSP00000132000
Gene: ENSMUSG00000024182

Domain	Start	End	E-Value	Type
RGS	93	216	3.03e-36	SMART
low complexity region	230	241	N/A	INTRINSIC
low complexity region	330	344	N/A	INTRINSIC
coiled coil region	394	432	N/A	INTRINSIC
Pfam:Axin_b-cat_bind	468	502	1.2e-18	PFAM
low complexity region	533	544	N/A	INTRINSIC
low complexity region	699	709	N/A	INTRINSIC
coiled coil region	712	734	N/A	INTRINSIC
DAX	750	832	5.92e-45	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176847

Predicted Effect

probably benign
Transcript: ENSMUST00000176961

SMART Domains

Protein: ENSMUSP00000135717
Gene: ENSMUSG00000073433

Domain	Start	End	E-Value	Type
Pfam:Rho_GDI	14	222	1.9e-83	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, two catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. The protein plays a role in the folding of nascent proteins in the endoplasmic reticulum by forming disulfide bonds through its thiol isomerase, oxidase, and reductase activity. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,664,403		probably null	Het
Ahnak2	A	T	12: 112,785,789	I186N	probably damaging	Het
Appbp2	A	G	11: 85,194,706	I458T	probably damaging	Het
Arhgef25	T	C	10: 127,185,144	Y291C	probably damaging	Het
Ate1	T	C	7: 130,467,292	Y415C	probably damaging	Het
B4galt4	G	T	16: 38,768,022	A72S	probably benign	Het
C3	T	C	17: 57,225,286	R178G	probably benign	Het
Cdh23	T	C	10: 60,657,326	Y3C	probably benign	Het
Col11a1	T	C	3: 114,121,445		probably null	Het
Col22a1	A	G	15: 71,977,358	F294L	possibly damaging	Het
Dera	A	G	6: 137,837,120	Y100C	probably damaging	Het
Dync2h1	A	T	9: 7,112,061	Y276*	probably null	Het
Eea1	A	T	10: 96,042,134	N1389I	probably damaging	Het
Epha4	A	T	1: 77,399,716	Y509N	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fezf1	T	A	6: 23,247,420	K219*	probably null	Het
Fsd1	G	A	17: 55,995,517		probably null	Het
Haspin	A	G	11: 73,136,395	Y623H	probably damaging	Het
Hsd3b1	C	T	3: 98,856,138	V56M	possibly damaging	Het
Hyou1	C	T	9: 44,385,227	T483I	probably damaging	Het
Kdm2a	A	G	19: 4,343,232	L365S	possibly damaging	Het
Kdm6b	G	T	11: 69,405,615	P609T	probably damaging	Het
Klhl18	T	A	9: 110,428,902	Y490F	probably damaging	Het
Ky	C	T	9: 102,542,428	Q545*	probably null	Het
L1td1	T	C	4: 98,737,353	L595P	probably benign	Het
Map3k20	T	G	2: 72,438,300	I550M	probably damaging	Het
Mug1	T	A	6: 121,878,530	V941E	probably damaging	Het
Ndst1	T	C	18: 60,697,139	N633S	probably benign	Het
Ninl	A	T	2: 150,952,488	I740K	possibly damaging	Het
Npepl1	A	G	2: 174,121,113	N431D	probably damaging	Het
Olfr1128	T	C	2: 87,545,065	T160A	probably damaging	Het
Pacs2	T	C	12: 113,061,113	S408P	probably damaging	Het
Pard6b	C	T	2: 168,099,194	T367I	probably damaging	Het
Pcdhga7	A	G	18: 37,716,515	E525G	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pcx	C	T	19: 4,617,967	H506Y	probably benign	Het
Pdhx	A	G	2: 103,035,241	S199P	probably damaging	Het
Pif1	C	A	9: 65,591,834	N445K	probably damaging	Het
Prickle4	T	C	17: 47,688,582	K349E	probably benign	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptpdc1	A	T	13: 48,589,194	M173K	probably damaging	Het
Rb1	A	G	14: 73,262,662	L515P	probably damaging	Het
Rcvrn	A	G	11: 67,700,051	K154E	probably damaging	Het
Ros1	C	T	10: 52,066,388	V2059I	probably damaging	Het
Rtn4ip1	T	A	10: 43,909,897		probably null	Het
Sema5a	T	C	15: 32,689,338	Y1050H	probably damaging	Het
Slc25a28	C	T	19: 43,664,269	V318I	probably benign	Het
Srek1	G	A	13: 103,744,895	R408W	unknown	Het
Synrg	C	T	11: 83,989,815	T444I	probably damaging	Het
Ticrr	T	C	7: 79,682,069	L776S	probably damaging	Het
Tmem127	T	C	2: 127,248,657	L31P	probably damaging	Het
Tmprss15	T	A	16: 79,073,186	T190S	probably benign	Het
Trip10	T	A	17: 57,253,411		probably null	Het
Ttc6	A	G	12: 57,649,506	Y31C	probably damaging	Het
Unc80	A	T	1: 66,622,570	H1718L	possibly damaging	Het
Zbtb38	A	G	9: 96,687,546	F495S	probably damaging	Het
Zfp280d	G	T	9: 72,296,019	Q16H	possibly damaging	Het
Zfp521	A	G	18: 13,846,346	S337P	probably damaging	Het
Zswim9	T	A	7: 13,261,577	T218S	possibly damaging	Het

Other mutations in Pdia2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Pdia2	APN	17	26198116	missense	probably damaging	0.98
IGL01019:Pdia2	APN	17	26198922	missense	probably damaging	1.00
IGL02289:Pdia2	APN	17	26197890	missense	possibly damaging	0.66
IGL02725:Pdia2	APN	17	26196532	missense	probably benign	0.05
Feline	UTSW	17	26198868	missense	probably benign	0.00
Hongry	UTSW	17	26197660	missense	possibly damaging	0.72
Ravenous	UTSW	17	26196521	missense	probably damaging	1.00
R0553:Pdia2	UTSW	17	26196243	missense	probably damaging	0.98
R0988:Pdia2	UTSW	17	26198829	missense	probably damaging	1.00
R1624:Pdia2	UTSW	17	26196521	missense	probably damaging	1.00
R1917:Pdia2	UTSW	17	26198105	missense	possibly damaging	0.82
R4583:Pdia2	UTSW	17	26196502	missense	probably damaging	1.00
R5455:Pdia2	UTSW	17	26197163	missense	probably null	0.99
R6841:Pdia2	UTSW	17	26196604	splice site	probably null
R6889:Pdia2	UTSW	17	26196970	nonsense	probably null
R7312:Pdia2	UTSW	17	26197660	missense	possibly damaging	0.72
R7743:Pdia2	UTSW	17	26198868	missense	probably benign	0.00
R7897:Pdia2	UTSW	17	26198233	missense	probably benign
R8518:Pdia2	UTSW	17	26198170	nonsense	probably null
R9187:Pdia2	UTSW	17	26196936	missense	probably damaging	0.98
R9449:Pdia2	UTSW	17	26197200	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGACCAGGTGCATGCTATG -3'
(R):5'- ACTGATGGCCAAATGGGATATG -3'

Sequencing Primer
(F):5'- ACCAGGTGCATGCTATGTATGAC -3'
(R):5'- ACAGTGCTGGTAGGCATCCATG -3'

Posted On

2015-04-17