Mutagenetix > Incidental Mutation

Incidental Mutation 'R7312:Erp29'

567660

Institutional Source

Beutler Lab

Gene Symbol

Erp29

Ensembl Gene

ENSMUSG00000029616

Gene Name

endoplasmic reticulum protein 29

Synonyms

Erp28, 1200015M03Rik, 2810446M09Rik, PDI-Db, Erp31

MMRRC Submission

045410-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.434) question?

Stock #

R7312 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121582816-121590537 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 121583392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 178 (A178D)

Ref Sequence

ENSEMBL: ENSMUSP00000117347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042163] [ENSMUST00000052590] [ENSMUST00000111802] [ENSMUST00000130451] [ENSMUST00000153758]

AlphaFold

P57759

Predicted Effect

probably benign
Transcript: ENSMUST00000042163

SMART Domains

Protein: ENSMUSP00000038977
Gene: ENSMUSG00000042719

Domain	Start	End	E-Value	Type
low complexity region	35	45	N/A	INTRINSIC
Pfam:NatB_MDM20	263	658	1.6e-121	PFAM
low complexity region	672	683	N/A	INTRINSIC
low complexity region	687	700	N/A	INTRINSIC
low complexity region	721	734	N/A	INTRINSIC
low complexity region	915	935	N/A	INTRINSIC
low complexity region	958	971	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000052590

SMART Domains

Protein: ENSMUSP00000059275
Gene: ENSMUSG00000029616

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
SCOP:d1g7ea_	35	52	1e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111802

SMART Domains

Protein: ENSMUSP00000107433
Gene: ENSMUSG00000029616

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
SCOP:d1g7ea_	35	50	5e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130451
AA Change: A178D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000117347
Gene: ENSMUSG00000029616
AA Change: A178D

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Pfam:ERp29_N	35	157	9.3e-61	PFAM
Pfam:ERp29	158	252	7.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153758

SMART Domains

Protein: ENSMUSP00000122522
Gene: ENSMUSG00000029616

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
SCOP:d1g7ea_	35	55	3e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172908

SMART Domains

Protein: ENSMUSP00000134345
Gene: ENSMUSG00000042719

Domain	Start	End	E-Value	Type
low complexity region	5	25	N/A	INTRINSIC
low complexity region	48	61	N/A	INTRINSIC

Meta Mutation Damage Score

0.0829

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which localizes to the lumen of the endoplasmic reticulum (ER). It is a member of the protein disulfide isomerase (PDI) protein family but lacks an active thioredoxin motif, suggesting that this protein does not function as a disulfide isomerase. The canonical protein dimerizes and is thought to play a role in the processing of secretory proteins within the ER. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	C	3: 89,969,021 (GRCm39)	S215P	probably benign	Het
Ano2	C	T	6: 126,016,460 (GRCm39)	Q998*	probably null	Het
Atg9a	A	T	1: 75,164,736 (GRCm39)	V76E	probably damaging	Het
Cacna1c	T	C	6: 119,034,172 (GRCm39)	I118M		Het
Cacna1g	T	A	11: 94,323,383 (GRCm39)	I1274F	probably damaging	Het
Cd300lg	C	T	11: 101,937,767 (GRCm39)	A199V	probably benign	Het
Cfap61	C	T	2: 145,887,390 (GRCm39)	R612*	probably null	Het
Cpeb4	A	T	11: 31,881,417 (GRCm39)	Y692F	probably damaging	Het
Dcun1d1	A	G	3: 35,951,940 (GRCm39)		probably null	Het
Dennd2d	T	A	3: 106,398,579 (GRCm39)	M188K	probably benign	Het
Dmgdh	A	G	13: 93,845,354 (GRCm39)		probably null	Het
Efl1	T	A	7: 82,330,652 (GRCm39)	M275K	probably benign	Het
Fbn1	T	C	2: 125,308,594 (GRCm39)	N156S	possibly damaging	Het
Frrs1	C	T	3: 116,675,426 (GRCm39)	T118I	probably damaging	Het
Frrs1l	A	G	4: 56,968,230 (GRCm39)	W181R	probably benign	Het
Gprc5b	C	A	7: 118,583,482 (GRCm39)	W129L	probably damaging	Het
Hoxc9	A	G	15: 102,890,593 (GRCm39)	H170R	probably benign	Het
Il12rb2	C	T	6: 67,333,617 (GRCm39)	D221N	probably benign	Het
Lmo1	T	C	7: 108,742,819 (GRCm39)	N28S	probably benign	Het
Lrrfip2	T	A	9: 111,006,525 (GRCm39)		probably null	Het
Macf1	A	T	4: 123,400,130 (GRCm39)	F722I	probably damaging	Het
Mical1	T	C	10: 41,355,772 (GRCm39)		probably null	Het
Mtcl3	A	G	10: 29,073,240 (GRCm39)	Y844C	probably damaging	Het
Mtmr11	C	T	3: 96,071,855 (GRCm39)	T223M	possibly damaging	Het
Mup21	A	G	4: 62,068,468 (GRCm39)	V66A	probably benign	Het
Nav2	C	A	7: 49,111,672 (GRCm39)	A726D	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nudt21	A	T	8: 94,746,227 (GRCm39)	V157D	probably benign	Het
Numa1	T	C	7: 101,639,806 (GRCm39)	I52T	possibly damaging	Het
Obscn	T	C	11: 58,946,442 (GRCm39)	D4421G	probably benign	Het
Oog3	T	C	4: 143,886,801 (GRCm39)	I106M	probably benign	Het
Or10g9	A	T	9: 39,912,106 (GRCm39)	V139E	probably benign	Het
Or2g25	T	C	17: 37,970,403 (GRCm39)	T274A	possibly damaging	Het
Or2z9	T	C	8: 72,853,793 (GRCm39)	L63P	probably damaging	Het
Or51f1	T	A	7: 102,505,706 (GRCm39)	Y261F	probably damaging	Het
Or5w20	T	G	2: 87,726,755 (GRCm39)	C71G	possibly damaging	Het
Orai2	T	A	5: 136,179,437 (GRCm39)	I199F	probably damaging	Het
P2rx5	C	A	11: 73,055,692 (GRCm39)	L50M	probably damaging	Het
Pdia2	T	C	17: 26,416,634 (GRCm39)	E215G	possibly damaging	Het
Pds5a	A	T	5: 65,823,570 (GRCm39)	S74T	possibly damaging	Het
Phlpp2	A	G	8: 110,666,785 (GRCm39)	S1105G	probably damaging	Het
Pi4kb	T	A	3: 94,891,888 (GRCm39)	D189E	probably benign	Het
Pigw	G	A	11: 84,768,585 (GRCm39)	T248M	probably damaging	Het
Pnlip	T	A	19: 58,670,134 (GRCm39)	V458D	probably damaging	Het
Ppm1l	G	A	3: 69,225,044 (GRCm39)	V49I	probably benign	Het
Prl3b1	T	A	13: 27,426,473 (GRCm39)	M1K	probably null	Het
Rad1	T	A	15: 10,493,367 (GRCm39)	C265S	probably benign	Het
Rnaset2b	C	T	17: 7,265,427 (GRCm39)	S237F	probably benign	Het
Rtl1	C	T	12: 109,561,672 (GRCm39)	A56T	unknown	Het
S1pr2	T	C	9: 20,879,238 (GRCm39)	I197V	probably benign	Het
Smyd4	A	G	11: 75,281,082 (GRCm39)	Q185R	probably benign	Het
Sox5	T	A	6: 144,100,759 (GRCm39)	T77S	probably benign	Het
Sox7	A	G	14: 64,185,291 (GRCm39)	Y109C	probably damaging	Het
Styxl2	C	T	1: 165,954,676 (GRCm39)	V25I	probably damaging	Het
Tln1	G	A	4: 43,545,922 (GRCm39)	R898C	probably damaging	Het
Tmprss11b	T	A	5: 86,812,173 (GRCm39)	E158V	probably damaging	Het
Tnpo3	C	A	6: 29,562,875 (GRCm39)	R614L	possibly damaging	Het
Vmn2r100	T	A	17: 19,742,296 (GRCm39)	D223E	probably benign	Het
Zc3h12d	A	T	10: 7,743,345 (GRCm39)	M372L	probably benign	Het
Zfp28	G	T	7: 6,386,593 (GRCm39)		probably benign	Het
Zfp963	A	T	8: 70,195,759 (GRCm39)	H231Q	probably damaging	Het
Zscan4b	A	G	7: 10,634,867 (GRCm39)	S459P	probably benign	Het

Other mutations in Erp29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02033:Erp29	APN	5	121,590,305 (GRCm39)	missense	probably benign	0.00
R4094:Erp29	UTSW	5	121,590,345 (GRCm39)	unclassified	probably benign
R4711:Erp29	UTSW	5	121,583,293 (GRCm39)	missense	possibly damaging	0.85
R4792:Erp29	UTSW	5	121,585,237 (GRCm39)	missense	probably benign	0.01
R7107:Erp29	UTSW	5	121,583,381 (GRCm39)	missense	possibly damaging	0.49
R9161:Erp29	UTSW	5	121,583,146 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AGGCCGTCAGGATGTTTAAGC -3'
(R):5'- AGTCTTCTACCTATTCCGGGATG -3'

Sequencing Primer
(F):5'- GCCGTCAGGATGTTTAAGCTCTTC -3'
(R):5'- TCTACCTATTCCGGGATGGGGAC -3'

Posted On

2019-06-26