Mutagenetix > Incidental Mutation

Incidental Mutation 'R7974:Erp27'

650773

Institutional Source

Beutler Lab

Gene Symbol

Erp27

Ensembl Gene

ENSMUSG00000030219

Gene Name

endoplasmic reticulum protein 27

Synonyms

1810047B09Rik, 1810033M07Rik

MMRRC Submission

046017-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R7974 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

136884309-136899178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136885063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 245 (V245D)

Ref Sequence

ENSEMBL: ENSMUSP00000032343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032343]

AlphaFold

Q9D8U3

Predicted Effect

probably damaging
Transcript: ENSMUST00000032343
AA Change: V245D

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

SMART Domains

Protein: ENSMUSP00000032343
Gene: ENSMUSG00000030219
AA Change: V245D

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	48	61	N/A	INTRINSIC
Pfam:Thioredoxin_6	64	251	2.8e-43	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a noncatalytic member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. The canonical protein has an N-terminal signal sequence, two thioredoxin (TRX)-like domains and a C-terminal ER-retention sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms; some of which lack domains present in the canonical protein. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,033,405 (GRCm39)		probably null	Het
Adamts19	A	T	18: 59,144,094 (GRCm39)	Q892L	possibly damaging	Het
Adamts9	A	G	6: 92,886,668 (GRCm39)		probably null	Het
Aftph	T	C	11: 20,648,233 (GRCm39)	*686W	probably null	Het
AI661453	T	C	17: 47,777,006 (GRCm39)	L244P	unknown	Het
Ankar	C	A	1: 72,738,138 (GRCm39)	E15*	probably null	Het
Ankrd39	A	G	1: 36,585,999 (GRCm39)		probably benign	Het
Arsi	A	G	18: 61,045,478 (GRCm39)	D56G	probably damaging	Het
Blmh	T	C	11: 76,856,729 (GRCm39)	I245T	possibly damaging	Het
Ccr6	T	C	17: 8,475,056 (GRCm39)	F87S	probably damaging	Het
Cdc42ep2	T	C	19: 5,968,523 (GRCm39)	K61E	probably damaging	Het
Celsr1	C	T	15: 85,915,231 (GRCm39)	G914D	probably damaging	Het
Cep126	T	A	9: 8,120,764 (GRCm39)	K86N	probably benign	Het
Cfap70	A	T	14: 20,470,818 (GRCm39)	F532I	probably damaging	Het
Cpsf3	T	A	12: 21,358,006 (GRCm39)	L506Q	probably damaging	Het
Dct	A	C	14: 118,277,067 (GRCm39)	I273S	probably damaging	Het
Dsel	T	C	1: 111,788,229 (GRCm39)	I769V	probably benign	Het
Dus2	G	A	8: 106,762,652 (GRCm39)	E138K	probably benign	Het
Emsy	A	G	7: 98,279,425 (GRCm39)	S305P	possibly damaging	Het
Fez1	C	A	9: 36,755,244 (GRCm39)	T81K	probably damaging	Het
Gli3	A	C	13: 15,900,841 (GRCm39)	Q1409H	probably benign	Het
Hdac9	T	C	12: 34,353,219 (GRCm39)	S664G	possibly damaging	Het
Hibadh	A	G	6: 52,534,880 (GRCm39)	S167P	probably benign	Het
Hsdl1	A	G	8: 120,293,072 (GRCm39)	V121A	probably benign	Het
Ift70a1	T	C	2: 75,810,688 (GRCm39)	H465R	probably damaging	Het
Ighv1-18	A	C	12: 114,646,669 (GRCm39)	I6S	possibly damaging	Het
Iqcm	T	A	8: 76,281,520 (GRCm39)	M1K	probably null	Het
Itch	T	C	2: 155,034,079 (GRCm39)	F417S	probably damaging	Het
Itpr1	C	T	6: 108,500,366 (GRCm39)	T2653I	possibly damaging	Het
Kank1	T	G	19: 25,401,584 (GRCm39)	Y1064D	probably damaging	Het
Kmt2c	T	C	5: 25,505,561 (GRCm39)	Q3249R	probably damaging	Het
Lefty1	T	C	1: 180,765,385 (GRCm39)	C318R	probably damaging	Het
Lmbr1l	C	T	15: 98,809,500 (GRCm39)	V147I	probably benign	Het
Meig1	C	A	2: 3,412,911 (GRCm39)	E37*	probably null	Het
Mpp3	A	G	11: 101,899,180 (GRCm39)		probably null	Het
Muc17	T	C	5: 137,175,664 (GRCm39)	N2S		Het
Mup7	T	C	4: 60,067,518 (GRCm39)	E199G	possibly damaging	Het
Nol4	G	C	18: 22,852,082 (GRCm39)	Y275*	probably null	Het
Nrxn1	G	A	17: 91,008,207 (GRCm39)	P429S	probably damaging	Het
Or14j8	T	C	17: 38,263,672 (GRCm39)	Y81C	probably damaging	Het
Pfkl	A	T	10: 77,829,996 (GRCm39)	F367L	probably damaging	Het
Pik3cg	T	C	12: 32,254,031 (GRCm39)	E652G	probably benign	Het
Prkag3	A	G	1: 74,783,980 (GRCm39)	I301T	probably benign	Het
Rcn1	G	A	2: 105,224,055 (GRCm39)	P163L	probably benign	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc37a2	A	T	9: 37,150,421 (GRCm39)		probably null	Het
Slc9b1	C	T	3: 135,099,791 (GRCm39)	T437I	possibly damaging	Het
Smap1	T	G	1: 23,888,522 (GRCm39)	T248P	probably benign	Het
Smpd3	A	C	8: 106,982,254 (GRCm39)	C617G	probably benign	Het
Spata20	T	C	11: 94,374,966 (GRCm39)	N212S	possibly damaging	Het
Sphkap	A	C	1: 83,256,683 (GRCm39)	C355W	probably damaging	Het
Spopfm2	T	C	3: 94,082,848 (GRCm39)	K321R	probably benign	Het
Spsb1	T	A	4: 149,991,566 (GRCm39)	M1L	probably damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Stxbp5	A	C	10: 9,646,439 (GRCm39)		probably null	Het
Taar5	G	C	10: 23,847,120 (GRCm39)	D173H	possibly damaging	Het
Tfrc	A	G	16: 32,440,101 (GRCm39)	D438G	probably null	Het
Tinag	A	T	9: 76,907,131 (GRCm39)	I368K	probably benign	Het
Tm9sf1	A	G	14: 55,873,906 (GRCm39)	W531R	probably damaging	Het
Tnc	G	T	4: 63,918,961 (GRCm39)	P1154Q	possibly damaging	Het
Toporsl	A	G	4: 52,611,645 (GRCm39)	R513G	probably damaging	Het
Vat1	A	G	11: 101,356,956 (GRCm39)	S2P	probably benign	Het
Vmn2r107	C	G	17: 20,577,270 (GRCm39)	P423A	probably benign	Het
Vmn2r2	T	A	3: 64,024,808 (GRCm39)	E591V	probably damaging	Het
Vmn2r62	T	A	7: 42,437,281 (GRCm39)	Y401F	probably damaging	Het
Vmn2r62	G	A	7: 42,414,031 (GRCm39)	T804I	probably damaging	Het
Vmn2r89	A	T	14: 51,693,459 (GRCm39)	I270F	probably damaging	Het
Zfp418	T	C	7: 7,185,167 (GRCm39)	F377L	possibly damaging	Het
Zkscan5	T	C	5: 145,144,502 (GRCm39)	S182P	unknown	Het

Other mutations in Erp27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Erp27	APN	6	136,886,500 (GRCm39)	missense	probably damaging	1.00
IGL01976:Erp27	APN	6	136,896,987 (GRCm39)	missense	probably damaging	0.99
IGL02348:Erp27	APN	6	136,888,544 (GRCm39)	missense	probably damaging	1.00
R0452:Erp27	UTSW	6	136,886,487 (GRCm39)	missense	probably damaging	1.00
R0498:Erp27	UTSW	6	136,896,862 (GRCm39)	unclassified	probably benign
R2055:Erp27	UTSW	6	136,885,227 (GRCm39)	splice site	probably benign
R3777:Erp27	UTSW	6	136,896,901 (GRCm39)	missense	possibly damaging	0.67
R3778:Erp27	UTSW	6	136,896,901 (GRCm39)	missense	possibly damaging	0.67
R4603:Erp27	UTSW	6	136,896,947 (GRCm39)	missense	probably damaging	0.98
R4667:Erp27	UTSW	6	136,885,150 (GRCm39)	missense	possibly damaging	0.90
R4668:Erp27	UTSW	6	136,885,150 (GRCm39)	missense	possibly damaging	0.90
R5753:Erp27	UTSW	6	136,896,875 (GRCm39)	missense	probably damaging	1.00
R5814:Erp27	UTSW	6	136,888,564 (GRCm39)	missense	possibly damaging	0.48
R5864:Erp27	UTSW	6	136,885,098 (GRCm39)	missense	probably benign	0.09
R6029:Erp27	UTSW	6	136,888,609 (GRCm39)	missense	probably damaging	0.98
R6131:Erp27	UTSW	6	136,885,201 (GRCm39)	missense	probably damaging	1.00
R8781:Erp27	UTSW	6	136,886,458 (GRCm39)	nonsense	probably null
R9339:Erp27	UTSW	6	136,896,945 (GRCm39)	missense	probably benign	0.01
R9485:Erp27	UTSW	6	136,886,548 (GRCm39)	missense	possibly damaging	0.61
R9516:Erp27	UTSW	6	136,885,066 (GRCm39)	missense	probably benign	0.00
R9526:Erp27	UTSW	6	136,886,550 (GRCm39)	missense	probably benign	0.43
Z1177:Erp27	UTSW	6	136,888,644 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCCCTTCGTAAATCGGCATC -3'
(R):5'- GGATCTTAGCTGGACCCTTTTC -3'

Sequencing Primer
(F):5'- GAATCATGTGTTCAGAGTCACCC -3'
(R):5'- AGCTGGACCCTTTTCTTTCAC -3'

Posted On

2020-09-15