Mutagenetix > Incidental Mutation

Incidental Mutation 'R0988:Pdia2'

97435

Institutional Source

Beutler Lab

Gene Symbol

Pdia2

Ensembl Gene

ENSMUSG00000024184

Gene Name

protein disulfide isomerase associated 2

Synonyms

Pdip, 1810041F13Rik, Pdipl

MMRRC Submission

039108-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R0988 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26414973-26418061 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26417803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 69 (F69L)

Ref Sequence

ENSEMBL: ENSMUSP00000114080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025019] [ENSMUST00000025020] [ENSMUST00000039113] [ENSMUST00000074370] [ENSMUST00000118904] [ENSMUST00000120333] [ENSMUST00000121959] [ENSMUST00000163421] [ENSMUST00000176961] [ENSMUST00000122058]

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 benign
Transcript: ENSMUST00000025020

SMART Domains

Protein: ENSMUSP00000025020
Gene: ENSMUSG00000024186

Domain	Start	End	E-Value	Type
DEP	34	109	7.78e-17	SMART
G_gamma	220	284	1.38e-19	SMART
GGL	223	284	1.1e-26	SMART
RGS	303	418	6.23e-47	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000039113
AA Change: F69L

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

SMART Domains

Protein: ENSMUSP00000035584
Gene: ENSMUSG00000024184
AA Change: F69L

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 damaging
Transcript: ENSMUST00000120333
AA Change: F69L

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

SMART Domains

Protein: ENSMUSP00000114080
Gene: ENSMUSG00000024184
AA Change: F69L

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

unknown
Transcript: ENSMUST00000142410
AA Change: F60L

SMART Domains

Protein: ENSMUSP00000115267
Gene: ENSMUSG00000024184
AA Change: F60L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127594

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152676

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: 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: ENSMUST00000176961

SMART Domains

Protein: ENSMUSP00000135717
Gene: ENSMUSG00000073433

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

Predicted Effect

probably benign
Transcript: ENSMUST00000122058

SMART Domains

Protein: ENSMUSP00000113885
Gene: ENSMUSG00000024186

Domain	Start	End	E-Value	Type
DEP	32	107	7.78e-17	SMART
G_gamma	218	282	1.38e-19	SMART
GGL	221	282	1.1e-26	SMART
RGS	301	416	6.23e-47	SMART

Meta Mutation Damage Score

0.7858

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.0%

Validation Efficiency

97% (34/35)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,896,310 (GRCm39)	I340V	probably benign	Het
Ano1	T	G	7: 144,187,390 (GRCm39)	S459R	possibly damaging	Het
Cop1	T	C	1: 159,060,417 (GRCm39)	V67A	possibly damaging	Het
Cop1	A	G	1: 159,072,242 (GRCm39)	Y186C	probably damaging	Het
Cst11	G	A	2: 148,612,346 (GRCm39)	T97I	probably benign	Het
Ephb2	T	A	4: 136,387,019 (GRCm39)	Y736F	possibly damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Hmcn2	T	C	2: 31,225,463 (GRCm39)	I124T	probably damaging	Het
Hpn	T	C	7: 30,799,323 (GRCm39)	Y271C	possibly damaging	Het
Kmt2a	A	G	9: 44,759,846 (GRCm39)	S668P	probably benign	Het
Krtap4-9	T	A	11: 99,676,362 (GRCm39)	C94*	probably null	Het
Lgmn	T	C	12: 102,364,536 (GRCm39)	D311G	probably damaging	Het
Macroh2a1	T	C	13: 56,231,109 (GRCm39)		probably null	Het
Mfsd14b	T	C	13: 65,260,307 (GRCm39)		probably benign	Het
Micu1	C	A	10: 59,592,549 (GRCm39)		probably benign	Het
Muc5b	A	G	7: 141,425,532 (GRCm39)	I4726V	probably benign	Het
Nadk2	T	A	15: 9,103,080 (GRCm39)	N310K	probably damaging	Het
Napg	T	C	18: 63,116,431 (GRCm39)		probably benign	Het
Nav3	G	A	10: 109,552,389 (GRCm39)	R1818W	probably damaging	Het
Ntpcr	T	C	8: 126,464,170 (GRCm39)		probably benign	Het
Or1j13	T	C	2: 36,369,779 (GRCm39)	D121G	probably damaging	Het
Or51af1	T	A	7: 103,141,954 (GRCm39)	I44F	probably damaging	Het
Or5b99	A	G	19: 12,977,151 (GRCm39)	D267G	probably benign	Het
Or6c214	A	G	10: 129,590,866 (GRCm39)	V151A	probably benign	Het
Pik3r4	A	G	9: 105,564,404 (GRCm39)	T1333A	probably damaging	Het
Platr26	A	T	2: 71,553,631 (GRCm39)		noncoding transcript	Het
Proc	T	C	18: 32,266,536 (GRCm39)	D97G	probably benign	Het
Ptpn23	C	T	9: 110,217,845 (GRCm39)	R700H	probably benign	Het
Rragc	T	A	4: 123,818,575 (GRCm39)		probably null	Het
Serac1	A	T	17: 6,111,855 (GRCm39)	F244I	probably benign	Het
Snrpd3	A	G	10: 75,368,039 (GRCm39)	D52G	probably damaging	Het
Thrb	G	T	14: 17,981,837 (GRCm38)		probably benign	Het
Ttc6	T	C	12: 57,735,435 (GRCm39)		probably benign	Het
Zfp607b	T	A	7: 27,402,401 (GRCm39)	C286S	probably benign	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
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
R6889:Pdia2	UTSW	17	26,415,944 (GRCm39)	nonsense	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'- ATGGGTGCCAGATCCCAGACAAAG -3'
(R):5'- ATGGACAAGCAGCTTCTGCCAGTG -3'

Sequencing Primer
(F):5'- TTCTGAAGCCTACCAGTGAAG -3'
(R):5'- TGCCAGTGTTGCTGCTC -3'

Posted On

2014-01-05