Mutagenetix > Incidental Mutation

Incidental Mutation 'R6889:Pdia2'

537135

Institutional Source

Beutler Lab

Gene Symbol

Pdia2

Ensembl Gene

ENSMUSG00000024184

Gene Name

protein disulfide isomerase associated 2

Synonyms

Pdip, 1810041F13Rik, Pdipl

MMRRC Submission

044983-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R6889 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26414973-26418061 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 26415944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 347 (Y347*)

Ref Sequence

ENSEMBL: ENSMUSP00000114080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025019] [ENSMUST00000039113] [ENSMUST00000074370] [ENSMUST00000118904] [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
AA Change: Y350*

SMART Domains

Protein: ENSMUSP00000035584
Gene: ENSMUSG00000024184
AA Change: Y350*

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
AA Change: Y347*

SMART Domains

Protein: ENSMUSP00000114080
Gene: ENSMUSG00000024184
AA Change: Y347*

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 benign
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

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

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,861,290 (GRCm39)	D103E	probably benign	Het
Abcc3	A	T	11: 94,266,381 (GRCm39)	S70T	possibly damaging	Het
Atp6v0a1	A	G	11: 100,920,009 (GRCm39)	Y214C	possibly damaging	Het
Azi2	A	G	9: 117,878,963 (GRCm39)		probably null	Het
Cacnb2	T	A	2: 14,990,826 (GRCm39)	V636E	possibly damaging	Het
Cd8a	A	C	6: 71,351,546 (GRCm39)	T169P	probably damaging	Het
Cfap44	G	A	16: 44,224,495 (GRCm39)	V68I	probably benign	Het
Cspg4b	C	A	13: 113,454,912 (GRCm39)	S319R	probably damaging	Het
Dnaaf10	G	A	11: 17,172,309 (GRCm39)	V133M	probably damaging	Het
Eea1	G	T	10: 95,873,340 (GRCm39)	C1134F	probably benign	Het
Ehmt2	T	G	17: 35,131,748 (GRCm39)	F1192V	probably damaging	Het
Emc1	T	C	4: 139,092,661 (GRCm39)	F531L	probably damaging	Het
Eme1	G	A	11: 94,541,303 (GRCm39)	T173I	probably benign	Het
Gli2	A	T	1: 118,772,146 (GRCm39)	C520S	probably damaging	Het
Gm43302	T	C	5: 105,428,004 (GRCm39)	K186E	probably benign	Het
Gpr108	A	T	17: 57,543,990 (GRCm39)	N405K	probably damaging	Het
Hmgcl	C	A	4: 135,682,953 (GRCm39)	T135N	probably benign	Het
Hydin	G	A	8: 111,259,488 (GRCm39)	D2487N	possibly damaging	Het
Igfl3	G	T	7: 17,913,725 (GRCm39)	R25L	probably benign	Het
Igsf10	A	C	3: 59,239,354 (GRCm39)	S276A	probably benign	Het
Kctd1	A	G	18: 15,107,045 (GRCm39)	S211P	probably damaging	Het
Kctd7	A	T	5: 130,181,342 (GRCm39)	Q255L	probably benign	Het
Lrig1	A	G	6: 94,602,044 (GRCm39)	Y270H	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myh15	A	G	16: 48,973,474 (GRCm39)	N1248S	possibly damaging	Het
Nod1	A	G	6: 54,921,094 (GRCm39)	F408S	probably benign	Het
Nrp1	T	C	8: 129,219,538 (GRCm39)	F652S	probably damaging	Het
Opa1	G	T	16: 29,439,686 (GRCm39)	R792L	probably benign	Het
Or10ak14	G	A	4: 118,611,504 (GRCm39)	T79I	probably damaging	Het
Or51t4	A	T	7: 102,597,975 (GRCm39)	H91L	possibly damaging	Het
Or5p63	A	T	7: 107,811,125 (GRCm39)	F204I	probably benign	Het
Or6c74	T	C	10: 129,870,401 (GRCm39)	M302T	probably benign	Het
Pcdha6	G	T	18: 37,101,396 (GRCm39)	L196F	probably damaging	Het
Pdpr	G	T	8: 111,851,245 (GRCm39)		probably null	Het
Pigt	T	A	2: 164,349,251 (GRCm39)	L518Q	probably damaging	Het
Ppfibp2	A	C	7: 107,337,188 (GRCm39)	D591A	possibly damaging	Het
Prrg2	G	A	7: 44,709,413 (GRCm39)	T97M	possibly damaging	Het
Qars1	A	G	9: 108,390,382 (GRCm39)	T428A	probably damaging	Het
Rai1	T	C	11: 60,076,541 (GRCm39)	F202L	probably damaging	Het
Rars1	A	T	11: 35,699,313 (GRCm39)	M660K	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,132 (GRCm39)		probably benign	Het
Slc16a6	A	C	11: 109,345,866 (GRCm39)	F382V	probably damaging	Het
Slc30a7	T	C	3: 115,747,802 (GRCm39)	T330A	probably damaging	Het
Smc1b	A	T	15: 84,951,960 (GRCm39)	L1157Q	probably damaging	Het
Snx4	G	T	16: 33,071,840 (GRCm39)	A4S	possibly damaging	Het
Sv2b	A	C	7: 74,775,515 (GRCm39)		probably null	Het
Syt9	A	T	7: 107,024,493 (GRCm39)	I129L	probably damaging	Het
Ttbk2	T	C	2: 120,603,834 (GRCm39)	E198G	probably damaging	Het
Ubr3	A	T	2: 69,774,644 (GRCm39)	D488V	possibly damaging	Het
Ush2a	T	A	1: 188,530,068 (GRCm39)	C3286S	probably damaging	Het
Vill	A	G	9: 118,894,950 (GRCm39)	D56G	possibly damaging	Het
Vmn1r41	A	T	6: 89,724,352 (GRCm39)	I298F	probably damaging	Het
Vmn2r2	A	T	3: 64,024,688 (GRCm39)	V631D	probably damaging	Het
Vmn2r32	A	G	7: 7,475,573 (GRCm39)	S437P	possibly damaging	Het
Vmn2r53	A	G	7: 12,335,069 (GRCm39)	V197A	probably benign	Het
Wasf1	A	T	10: 40,796,365 (GRCm39)	I32F	probably damaging	Het
Wasf2	G	T	4: 132,922,041 (GRCm39)	A387S	unknown	Het
Zbtb14	G	A	17: 69,694,674 (GRCm39)	C124Y	probably damaging	Het
Zfp462	G	T	4: 55,007,671 (GRCm39)	A37S	probably damaging	Het
Zfp532	A	G	18: 65,820,061 (GRCm39)	E882G	possibly damaging	Het

Other mutations in Pdia2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Pdia2	APN	17	26,417,090 (GRCm39)	missense	probably damaging	0.98
IGL01019:Pdia2	APN	17	26,417,896 (GRCm39)	missense	probably damaging	1.00
IGL02289:Pdia2	APN	17	26,416,864 (GRCm39)	missense	possibly damaging	0.66
IGL02725:Pdia2	APN	17	26,415,506 (GRCm39)	missense	probably benign	0.05
Feline	UTSW	17	26,417,842 (GRCm39)	missense	probably benign	0.00
Hongry	UTSW	17	26,416,634 (GRCm39)	missense	possibly damaging	0.72
Ravenous	UTSW	17	26,415,495 (GRCm39)	missense	probably damaging	1.00
R0553:Pdia2	UTSW	17	26,415,217 (GRCm39)	missense	probably damaging	0.98
R0988:Pdia2	UTSW	17	26,417,803 (GRCm39)	missense	probably damaging	1.00
R1624:Pdia2	UTSW	17	26,415,495 (GRCm39)	missense	probably damaging	1.00
R1917:Pdia2	UTSW	17	26,417,079 (GRCm39)	missense	possibly damaging	0.82
R3950:Pdia2	UTSW	17	26,416,590 (GRCm39)	critical splice donor site	probably null
R4583:Pdia2	UTSW	17	26,415,476 (GRCm39)	missense	probably damaging	1.00
R5455:Pdia2	UTSW	17	26,416,137 (GRCm39)	missense	probably null	0.99
R6841:Pdia2	UTSW	17	26,415,578 (GRCm39)	splice site	probably null
R7312:Pdia2	UTSW	17	26,416,634 (GRCm39)	missense	possibly damaging	0.72
R7743:Pdia2	UTSW	17	26,417,842 (GRCm39)	missense	probably benign	0.00
R7897:Pdia2	UTSW	17	26,417,207 (GRCm39)	missense	probably benign
R8518:Pdia2	UTSW	17	26,417,144 (GRCm39)	nonsense	probably null
R9187:Pdia2	UTSW	17	26,415,910 (GRCm39)	missense	probably damaging	0.98
R9449:Pdia2	UTSW	17	26,416,174 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGACTCAGGAGATAGTGCTGG -3'
(R):5'- ACAGACTTCAGAGAGGCAGCTC -3'

Sequencing Primer
(F):5'- GGGAAGCAAACAGGCCTCC -3'
(R):5'- AGGCAGCTCCTCCATTCAG -3'

Posted On

2018-10-18