Mutagenetix > Incidental Mutation

Incidental Mutation 'R7107:Erp29'

551229

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

045199-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.529) question?

Stock #

R7107 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121582816-121590537 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121583381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 182 (I182F)

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

possibly damaging
Transcript: ENSMUST00000130451
AA Change: I182F

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117347
Gene: ENSMUSG00000029616
AA Change: I182F

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

0.1795

Coding Region Coverage

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

Validation Efficiency

99% (78/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,867,299 (GRCm39)	L253S	probably damaging	Het
Adgrv1	T	C	13: 81,726,261 (GRCm39)	E588G	probably benign	Het
Ahcy	G	A	2: 154,910,893 (GRCm39)	A25V	probably damaging	Het
Ank2	A	C	3: 126,797,631 (GRCm39)	L710R	probably damaging	Het
Ap1b1	A	G	11: 4,989,558 (GRCm39)	T824A	probably benign	Het
Arap2	T	A	5: 62,763,551 (GRCm39)	H1531L	probably damaging	Het
Atosb	A	T	4: 43,036,434 (GRCm39)	V99E	probably benign	Het
B3gnt7	T	C	1: 86,233,495 (GRCm39)	L247P	probably damaging	Het
Bcl6b	A	G	11: 70,117,396 (GRCm39)	C409R	probably damaging	Het
Bicdl1	T	C	5: 115,808,229 (GRCm39)	H301R	probably benign	Het
Casc3	T	A	11: 98,718,413 (GRCm39)	I491N	possibly damaging	Het
Ccdc92b	T	A	11: 74,520,887 (GRCm39)	L63Q	probably damaging	Het
Cep250	A	G	2: 155,837,314 (GRCm39)	T2319A	probably benign	Het
Chd1	T	C	17: 15,981,628 (GRCm39)	S1356P	probably damaging	Het
Chd8	A	G	14: 52,450,129 (GRCm39)	S1542P	probably benign	Het
Clec2m	A	G	6: 129,299,915 (GRCm39)	C188R	probably damaging	Het
Cntnap4	A	G	8: 113,542,120 (GRCm39)	D751G	probably damaging	Het
Cpsf4l	G	A	11: 113,593,315 (GRCm39)	R90C	possibly damaging	Het
Defa21	G	A	8: 21,515,724 (GRCm39)	A41T	probably damaging	Het
Dennd4a	G	T	9: 64,801,681 (GRCm39)	L941F	possibly damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dtx4	A	T	19: 12,450,624 (GRCm39)	C529*	probably null	Het
Entpd3	A	G	9: 120,389,665 (GRCm39)	Y317C	probably damaging	Het
Fam161a	A	G	11: 22,973,452 (GRCm39)	R445G	possibly damaging	Het
Fam76a	T	A	4: 132,631,232 (GRCm39)	M238L	possibly damaging	Het
Fn1	T	C	1: 71,666,408 (GRCm39)	Y875C	probably damaging	Het
Gnb2	A	G	5: 137,528,444 (GRCm39)		probably null	Het
Hspg2	T	C	4: 137,237,963 (GRCm39)	S229P	probably damaging	Het
Ighv6-6	A	G	12: 114,398,590 (GRCm39)	S59P	probably damaging	Het
Itpkc	C	A	7: 26,927,702 (GRCm39)	A71S	probably benign	Het
Kcnk10	G	A	12: 98,485,002 (GRCm39)	R45*	probably null	Het
Krcc1	A	G	6: 71,261,198 (GRCm39)	S77G	probably benign	Het
Lelp1	G	A	3: 92,042,821 (GRCm39)	T76I	unknown	Het
Lifr	A	T	15: 7,208,421 (GRCm39)	I600F	possibly damaging	Het
Lrrk1	T	A	7: 65,937,191 (GRCm39)	D987V	possibly damaging	Het
Muc16	C	T	9: 18,548,594 (GRCm39)	D5900N	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myo9a	A	G	9: 59,778,098 (GRCm39)	I1285V	probably benign	Het
Ndel1	T	C	11: 68,713,474 (GRCm39)	D321G	possibly damaging	Het
Nlrp4b	T	C	7: 10,449,144 (GRCm39)	V449A	probably damaging	Het
Or10q12	A	G	19: 13,746,525 (GRCm39)	E273G	probably benign	Het
Or2r11	T	C	6: 42,437,488 (GRCm39)	N155S	possibly damaging	Het
Or2y1c	T	A	11: 49,361,261 (GRCm39)	Y94*	probably null	Het
Or51k1	A	T	7: 103,661,489 (GRCm39)	L140Q	probably benign	Het
Or5k3	A	C	16: 58,969,279 (GRCm39)	D22A	probably benign	Het
Osbpl1a	G	A	18: 12,974,310 (GRCm39)	R459*	probably null	Het
Pabpc1l	A	C	2: 163,884,399 (GRCm39)	T379P	probably damaging	Het
Pde2a	A	T	7: 101,071,175 (GRCm39)	Q15L	probably benign	Het
Pdk1	A	G	2: 71,726,085 (GRCm39)	N331S	probably benign	Het
Pfdn1	A	T	18: 36,584,519 (GRCm39)		probably null	Het
Pnliprp1	T	A	19: 58,717,582 (GRCm39)	L9H	probably damaging	Het
Prl7a2	A	T	13: 27,843,076 (GRCm39)	D242E	possibly damaging	Het
Prmt9	T	A	8: 78,294,880 (GRCm39)	I408N	possibly damaging	Het
Psme4	G	A	11: 30,798,105 (GRCm39)	R1366H	probably benign	Het
Pstpip1	A	T	9: 56,035,934 (GRCm39)	D393V	probably damaging	Het
Rab5b	A	G	10: 128,519,062 (GRCm39)		probably null	Het
Rap1gap2	G	A	11: 74,283,945 (GRCm39)	R618C	probably damaging	Het
Rin1	A	G	19: 5,100,801 (GRCm39)		probably benign	Het
Sall3	G	A	18: 81,016,969 (GRCm39)	P320S	probably benign	Het
Sdk1	A	G	5: 142,067,471 (GRCm39)	T1124A	probably damaging	Het
Sirpb1c	T	A	3: 15,892,941 (GRCm39)	T88S	possibly damaging	Het
Slc35f6	T	A	5: 30,814,121 (GRCm39)	I189N	probably damaging	Het
Slc49a3	T	A	5: 108,596,581 (GRCm39)		probably null	Het
Spata31d1e	T	A	13: 59,889,997 (GRCm39)	R608*	probably null	Het
Spsb2	A	T	6: 124,787,244 (GRCm39)	Q226L	probably benign	Het
Stab2	T	C	10: 86,741,456 (GRCm39)	D1221G	possibly damaging	Het
Sugp1	G	A	8: 70,522,800 (GRCm39)	R500H	probably benign	Het
Syne1	A	G	10: 5,082,078 (GRCm39)	Y849H	probably damaging	Het
Tbck	T	A	3: 132,428,092 (GRCm39)	I249N	possibly damaging	Het
Tdrd6	A	C	17: 43,935,095 (GRCm39)	F1984L	probably benign	Het
Tnxb	T	A	17: 34,890,314 (GRCm39)	V219E	unknown	Het
Tpst1	T	A	5: 130,143,344 (GRCm39)	V294D	probably damaging	Het
Treml1	A	G	17: 48,667,247 (GRCm39)	Q44R	probably damaging	Het
Trrap	G	A	5: 144,733,945 (GRCm39)	A933T	probably benign	Het
Vars2	A	G	17: 35,969,142 (GRCm39)	L853P	probably damaging	Het
Vmn1r10	A	T	6: 57,090,615 (GRCm39)	N69I	possibly damaging	Het
Vmn1r179	T	A	7: 23,627,819 (GRCm39)	Y3*	probably null	Het
Vmn2r38	T	A	7: 9,093,728 (GRCm39)	Y498F	probably benign	Het
Zc3h11a	T	C	1: 133,566,655 (GRCm39)	T179A	probably damaging	Het
Zmym2	A	G	14: 57,140,169 (GRCm39)	T3A	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
R7312:Erp29	UTSW	5	121,583,392 (GRCm39)	missense	probably benign	0.01
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

2019-05-15