Mutagenetix > Incidental Mutation

Incidental Mutation 'R1891:Ergic2'

211487

Institutional Source

Beutler Lab

Gene Symbol

Ergic2

Ensembl Gene

ENSMUSG00000030304

Gene Name

ERGIC and golgi 2

Synonyms

1200009B18Rik, 4930572C01Rik

MMRRC Submission

039911-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.458) question?

Stock #

R1891 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148080816-148113886 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148084577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 319 (C319S)

Ref Sequence

ENSEMBL: ENSMUSP00000120456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032446] [ENSMUST00000111607] [ENSMUST00000136008] [ENSMUST00000143282] [ENSMUST00000204832]

AlphaFold

Q9CR89

Predicted Effect

probably benign
Transcript: ENSMUST00000032446

Predicted Effect

probably benign
Transcript: ENSMUST00000111607

SMART Domains

Protein: ENSMUSP00000107234
Gene: ENSMUSG00000030303

Domain	Start	End	E-Value	Type
Pfam:Polysacc_synt_2	13	159	2.9e-8	PFAM
Pfam:Epimerase	13	241	3.2e-10	PFAM
Pfam:3Beta_HSD	14	167	4.2e-7	PFAM
Pfam:NAD_binding_4	15	285	3.2e-73	PFAM
Pfam:Sterile	355	448	1.2e-29	PFAM
transmembrane domain	466	483	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126773

Predicted Effect

probably damaging
Transcript: ENSMUST00000136008
AA Change: C319S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120456
Gene: ENSMUSG00000030304
AA Change: C319S

Domain	Start	End	E-Value	Type
Pfam:ERGIC_N	13	101	1.6e-26	PFAM
Pfam:COPIIcoated_ERV	157	333	4.8e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140311

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143282
AA Change: C75S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000145143
Gene: ENSMUSG00000030304
AA Change: C75S

Domain	Start	End	E-Value	Type
Pfam:COPIIcoated_ERV	1	89	2.7e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149631

Predicted Effect

unknown
Transcript: ENSMUST00000203268
AA Change: C139S

Predicted Effect

probably benign
Transcript: ENSMUST00000204832

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203993

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ERGIC2, or PTX1, is a ubiquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [PubMed 11445006]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Mice homozygous for an ENU-induced point mutation affecting the donor splice site of intron 5 exhibit swelling of the hind feet and tail. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,840,874 (GRCm39)	I921T	possibly damaging	Het
Abca8a	T	C	11: 109,982,433 (GRCm39)	K3R	probably benign	Het
Adgrl3	A	T	5: 81,659,891 (GRCm39)	D152V	probably damaging	Het
Akap6	A	T	12: 53,188,958 (GRCm39)	D2124V	possibly damaging	Het
Akt1	A	G	12: 112,626,009 (GRCm39)	F88L	probably damaging	Het
Ankrd24	T	C	10: 81,479,342 (GRCm39)		probably benign	Het
Arid4b	T	A	13: 14,310,821 (GRCm39)	N141K	possibly damaging	Het
Cacna1c	C	A	6: 118,753,480 (GRCm39)	D219Y	probably damaging	Het
Ccdc113	A	G	8: 96,267,544 (GRCm39)	K170E	probably damaging	Het
Ceacam9	A	G	7: 16,457,880 (GRCm39)	E136G	probably damaging	Het
Cfap43	A	G	19: 47,802,380 (GRCm39)	L333P	probably damaging	Het
Chl1	A	G	6: 103,691,544 (GRCm39)	D1062G	possibly damaging	Het
Cimip4	T	A	15: 78,262,952 (GRCm39)	D234V	probably damaging	Het
Ckb	TCCACCACCA	TCCACCA	12: 111,636,079 (GRCm39)		probably benign	Het
Clpp	T	A	17: 57,298,307 (GRCm39)	V91E	probably damaging	Het
Cndp1	A	T	18: 84,637,758 (GRCm39)	H325Q	probably null	Het
Cngb3	A	G	4: 19,366,446 (GRCm39)	N169S	probably benign	Het
Cog6	A	C	3: 52,890,601 (GRCm39)	I613R	probably benign	Het
Creb3l1	A	G	2: 91,817,385 (GRCm39)	L376P	probably damaging	Het
Cry2	A	T	2: 92,243,985 (GRCm39)	V396D	possibly damaging	Het
Cxxc5	A	G	18: 35,992,318 (GRCm39)	M240V	possibly damaging	Het
Defa28	G	A	8: 22,073,801 (GRCm39)	C68Y	probably damaging	Het
Ecd	A	G	14: 20,388,227 (GRCm39)	I187T	probably damaging	Het
Erg28	A	G	12: 85,862,962 (GRCm39)	S117P	probably benign	Het
Ess2	C	T	16: 17,725,644 (GRCm39)	W183*	probably null	Het
Evc2	A	C	5: 37,549,423 (GRCm39)	D773A	probably damaging	Het
Fam151b	T	A	13: 92,586,678 (GRCm39)	T252S	probably benign	Het
Fbxo28	A	T	1: 182,145,389 (GRCm39)	M233K	probably benign	Het
Fbxw26	T	G	9: 109,551,232 (GRCm39)	D355A	probably benign	Het
Gm4884	G	C	7: 40,692,539 (GRCm39)	E169D	possibly damaging	Het
Hk2	C	T	6: 82,726,264 (GRCm39)	R94Q	probably benign	Het
Hps4	G	A	5: 112,517,422 (GRCm39)		probably null	Het
Hspg2	T	A	4: 137,292,801 (GRCm39)	D4126E	probably damaging	Het
Kif13a	T	C	13: 47,082,695 (GRCm39)	E48G	possibly damaging	Het
Krt31	T	A	11: 99,938,634 (GRCm39)	N320Y	probably damaging	Het
Lca5	T	C	9: 83,277,661 (GRCm39)	Y561C	probably damaging	Het
Lrrk1	G	A	7: 65,929,048 (GRCm39)	L1195F	probably damaging	Het
Ly6g6d	A	C	17: 35,293,269 (GRCm39)	Y25*	probably null	Het
Map3k13	T	G	16: 21,729,836 (GRCm39)	M489R	probably damaging	Het
Mcm6	C	T	1: 128,263,547 (GRCm39)	R658H	probably damaging	Het
Mecp2	C	T	X: 73,080,781 (GRCm39)	A79T	probably damaging	Het
Mitf	A	G	6: 97,918,237 (GRCm39)	T94A	probably benign	Het
Mpo	T	A	11: 87,692,106 (GRCm39)	L513*	probably null	Het
Mst1r	T	A	9: 107,790,661 (GRCm39)	N722K	probably damaging	Het
Mthfd1l	T	A	10: 3,982,284 (GRCm39)	L497*	probably null	Het
Mtus1	C	T	8: 41,537,362 (GRCm39)	S118N	probably damaging	Het
Mybbp1a	C	T	11: 72,336,863 (GRCm39)	T565I	probably benign	Het
Naip2	C	T	13: 100,291,395 (GRCm39)	R1181K	probably benign	Het
Nbas	T	C	12: 13,440,973 (GRCm39)	M1101T	possibly damaging	Het
Odad3	G	T	9: 21,906,677 (GRCm39)		probably null	Het
Or2y1b	T	C	11: 49,208,684 (GRCm39)	F104L	probably benign	Het
Or4f60	A	T	2: 111,902,739 (GRCm39)	L63Q	probably damaging	Het
Or52l1	A	T	7: 104,829,754 (GRCm39)	Y270*	probably null	Het
Or5ae1	T	A	7: 84,565,461 (GRCm39)	V158D	possibly damaging	Het
Or6c33	T	C	10: 129,853,439 (GRCm39)	S70P	probably damaging	Het
Or7a40	T	A	16: 16,491,441 (GRCm39)	I135F	probably damaging	Het
Or7g20	T	C	9: 18,947,274 (GRCm39)	L285S	probably damaging	Het
Or8b12b	T	A	9: 37,684,163 (GRCm39)	D69E	possibly damaging	Het
Oxct2b	A	G	4: 123,010,938 (GRCm39)	D286G	probably benign	Het
Pax5	A	T	4: 44,691,859 (GRCm39)	V129E	probably damaging	Het
Pax7	G	A	4: 139,511,937 (GRCm39)	R215C	probably damaging	Het
Pcdh7	A	T	5: 57,878,217 (GRCm39)	I591F	probably damaging	Het
Pcdhb22	T	C	18: 37,652,357 (GRCm39)	V275A	probably damaging	Het
Pkp3	C	T	7: 140,663,969 (GRCm39)		probably null	Het
Plekhb1	A	G	7: 100,304,599 (GRCm39)	L35P	probably damaging	Het
Pole	T	A	5: 110,480,408 (GRCm39)	F1993Y	probably damaging	Het
Pramel28	A	T	4: 143,693,235 (GRCm39)	V81E	probably damaging	Het
Prdx1	T	C	4: 116,556,451 (GRCm39)	*200R	probably null	Het
Prkdc	C	A	16: 15,543,300 (GRCm39)	T1777N	probably benign	Het
Prss59	A	T	6: 40,902,967 (GRCm39)	M135K	possibly damaging	Het
Ptpn14	G	A	1: 189,530,850 (GRCm39)	V106M	probably damaging	Het
Ptpn23	T	C	9: 110,222,868 (GRCm39)	E63G	possibly damaging	Het
Qser1	A	C	2: 104,620,444 (GRCm39)	S123A	probably benign	Het
Rbm11	A	G	16: 75,397,675 (GRCm39)	N202D	possibly damaging	Het
Robo3	T	A	9: 37,339,351 (GRCm39)	Y212F	probably damaging	Het
Sde2	G	A	1: 180,687,573 (GRCm39)	S153N	probably benign	Het
Serpinb1c	T	A	13: 33,068,235 (GRCm39)	D179V	probably benign	Het
Skint6	T	C	4: 112,703,893 (GRCm39)	D994G	possibly damaging	Het
Sorbs1	A	G	19: 40,381,904 (GRCm39)	S46P	probably damaging	Het
St8sia4	T	C	1: 95,519,433 (GRCm39)	T352A	possibly damaging	Het
Stab1	C	A	14: 30,863,287 (GRCm39)	R2133L	probably benign	Het
Stk11ip	T	C	1: 75,509,060 (GRCm39)	C730R	probably benign	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tle4	A	T	19: 14,522,150 (GRCm39)		probably null	Het
Tmem200a	T	A	10: 25,869,970 (GRCm39)	N100Y	probably damaging	Het
Tnnt2	A	T	1: 135,768,597 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,706,302 (GRCm39)		probably benign	Het
Ubac1	A	G	2: 25,904,974 (GRCm39)	V88A	probably benign	Het
Urgcp	T	C	11: 5,666,910 (GRCm39)	E476G	probably benign	Het
Vmn1r201	G	A	13: 22,659,425 (GRCm39)	R213H	probably benign	Het
Vmn2r84	C	T	10: 130,221,938 (GRCm39)	V761M	possibly damaging	Het
Vwde	A	T	6: 13,187,454 (GRCm39)	Y678N	probably damaging	Het
Wnk2	C	A	13: 49,206,200 (GRCm39)	E1865*	probably null	Het
Zc3h3	A	C	15: 75,628,780 (GRCm39)	M838R	possibly damaging	Het
Zfp959	T	A	17: 56,204,604 (GRCm39)	C211S	probably damaging	Het

Other mutations in Ergic2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01083:Ergic2	APN	6	148,096,769 (GRCm39)	missense	probably benign
IGL02191:Ergic2	APN	6	148,106,319 (GRCm39)	missense	probably null	0.12
IGL02719:Ergic2	APN	6	148,106,317 (GRCm39)	missense	possibly damaging	0.82
IGL02958:Ergic2	APN	6	148,083,441 (GRCm39)	makesense	probably null
R0389:Ergic2	UTSW	6	148,084,700 (GRCm39)	missense	probably benign	0.40
R0416:Ergic2	UTSW	6	148,084,642 (GRCm39)	missense	probably damaging	1.00
R0727:Ergic2	UTSW	6	148,100,898 (GRCm39)	unclassified	probably benign
R1835:Ergic2	UTSW	6	148,091,079 (GRCm39)	missense	possibly damaging	0.61
R1959:Ergic2	UTSW	6	148,100,852 (GRCm39)	critical splice donor site	probably null
R2504:Ergic2	UTSW	6	148,106,272 (GRCm39)	critical splice donor site	probably null
R3414:Ergic2	UTSW	6	148,108,179 (GRCm39)	splice site	probably benign
R3732:Ergic2	UTSW	6	148,104,020 (GRCm39)	missense	probably damaging	1.00
R3732:Ergic2	UTSW	6	148,104,020 (GRCm39)	missense	probably damaging	1.00
R3733:Ergic2	UTSW	6	148,104,020 (GRCm39)	missense	probably damaging	1.00
R3734:Ergic2	UTSW	6	148,104,020 (GRCm39)	missense	probably damaging	1.00
R5002:Ergic2	UTSW	6	148,085,656 (GRCm39)	missense	probably benign	0.00
R5083:Ergic2	UTSW	6	148,097,512 (GRCm39)	missense	probably benign	0.00
R5088:Ergic2	UTSW	6	148,084,621 (GRCm39)	missense	probably damaging	1.00
R5850:Ergic2	UTSW	6	148,084,605 (GRCm39)	missense	possibly damaging	0.93
R6541:Ergic2	UTSW	6	148,084,648 (GRCm39)	missense	probably damaging	1.00
R6652:Ergic2	UTSW	6	148,091,079 (GRCm39)	missense	probably damaging	1.00
R7073:Ergic2	UTSW	6	148,096,707 (GRCm39)	missense	probably damaging	1.00
R7167:Ergic2	UTSW	6	148,108,133 (GRCm39)	missense	probably damaging	1.00
R7275:Ergic2	UTSW	6	148,096,757 (GRCm39)	missense	probably damaging	1.00
R7299:Ergic2	UTSW	6	148,089,610 (GRCm39)	missense	probably damaging	1.00
R8732:Ergic2	UTSW	6	148,102,975 (GRCm39)	missense	probably damaging	1.00
R8864:Ergic2	UTSW	6	148,083,393 (GRCm39)	missense	probably benign	0.00
R8948:Ergic2	UTSW	6	148,104,005 (GRCm39)	missense	probably damaging	0.99
R9437:Ergic2	UTSW	6	148,097,562 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TGAGAGTCACACTACAGCATAC -3'
(R):5'- AAGTGCATTTTAGGAGCCACAC -3'

Sequencing Primer
(F):5'- GCATACTCCATCAGTGAACTATCTTC -3'
(R):5'- TTAGGAGCCACACCACATGTTTC -3'

Posted On

2014-06-30