Mutagenetix > Incidental Mutation

Incidental Mutation 'R8864:Ergic2'

675811

Institutional Source

Beutler Lab

Gene Symbol

Ergic2

Ensembl Gene

ENSMUSG00000030304

Gene Name

ERGIC and golgi 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.420) question?

Stock #

R8864 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148179079-148212374 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 148181895 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 355 (V355A)

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

probably benign
Transcript: ENSMUST00000136008
AA Change: V355A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000120456
Gene: ENSMUSG00000030304
AA Change: V355A

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

probably benign
Transcript: ENSMUST00000143282
AA Change: V111A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000145143
Gene: ENSMUSG00000030304
AA Change: V111A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204832

Meta Mutation Damage Score

0.0685

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (41/41)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 58,890,425	C297*	probably null	Het
Adamts3	T	C	5: 89,707,122		probably benign	Het
Best2	T	A	8: 85,009,313	M331L	probably benign	Het
Cachd1	T	A	4: 100,994,829	S1207R	probably damaging	Het
Cacna2d3	G	T	14: 29,333,778	N298K	probably damaging	Het
Cyp2j12	T	C	4: 96,121,513	Y203C	probably damaging	Het
Dnah8	T	C	17: 30,762,642	I3046T	possibly damaging	Het
Eif3b	T	C	5: 140,426,532	V252A	probably benign	Het
F13a1	C	T	13: 36,877,779	G670D	probably damaging	Het
Gfpt1	T	A	6: 87,054,623	D82E	probably benign	Het
Ggnbp2	G	A	11: 84,840,076	R376C	probably damaging	Het
Gm30302	T	C	13: 49,787,512	N241D	probably benign	Het
Grn	T	C	11: 102,436,385	F191L	unknown	Het
Ighv1-16	C	T	12: 114,665,999	G56D	probably benign	Het
Jrkl	T	C	9: 13,244,321	D445G	probably benign	Het
Loxl3	A	G	6: 83,035,758	T93A	probably damaging	Het
Lrp1b	C	T	2: 41,112,706	A2094T		Het
Lrriq3	T	A	3: 155,187,938	D425E	probably damaging	Het
Majin	T	C	19: 6,211,620	V55A	possibly damaging	Het
Mapk8ip3	A	T	17: 24,899,518	V1192E	probably damaging	Het
Mdga1	T	C	17: 29,931,321	S106G	unknown	Het
Mtch2	C	T	2: 90,854,930	R135*	probably null	Het
Naip1	T	C	13: 100,426,320	N779S	possibly damaging	Het
Nfia	T	C	4: 98,063,145	V403A	possibly damaging	Het
Npas4	C	A	19: 4,988,528	D121Y	probably damaging	Het
Rab3gap1	C	T	1: 127,909,893	R231W	probably damaging	Het
Rangap1	C	G	15: 81,726,069		probably benign	Het
Rgs5	T	A	1: 169,690,421	F75I	probably benign	Het
Rnf19a	T	C	15: 36,265,306	D215G	possibly damaging	Het
Rwdd4a	A	T	8: 47,547,841		probably benign	Het
Setd5	G	A	6: 113,111,508	R199H	probably damaging	Het
Spef2	T	C	15: 9,599,747	Q2004R	unknown	Het
Syne1	T	C	10: 5,420,473	K236E	probably benign	Het
Tas2r104	A	G	6: 131,685,669	F26L	possibly damaging	Het
Tbc1d32	T	A	10: 56,087,559	E954D	probably benign	Het
Tenm2	A	C	11: 36,027,195	S1914A	possibly damaging	Het
Tln2	G	T	9: 67,330,552	Y32*	probably null	Het
Tnc	C	T	4: 63,993,059	R1425H	probably damaging	Het
Unc13b	T	C	4: 43,174,724	C1851R	unknown	Het
Wapl	T	A	14: 34,692,202	D340E	probably benign	Het
Zfp74	T	C	7: 29,934,810	E491G	probably damaging	Het

Other mutations in Ergic2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01083:Ergic2	APN	6	148195271	missense	probably benign
IGL02191:Ergic2	APN	6	148204821	missense	probably null	0.12
IGL02719:Ergic2	APN	6	148204819	missense	possibly damaging	0.82
IGL02958:Ergic2	APN	6	148181943	makesense	probably null
R0389:Ergic2	UTSW	6	148183202	missense	probably benign	0.40
R0416:Ergic2	UTSW	6	148183144	missense	probably damaging	1.00
R0727:Ergic2	UTSW	6	148199400	unclassified	probably benign
R1835:Ergic2	UTSW	6	148189581	missense	possibly damaging	0.61
R1891:Ergic2	UTSW	6	148183079	missense	probably damaging	0.99
R1959:Ergic2	UTSW	6	148199354	critical splice donor site	probably null
R2504:Ergic2	UTSW	6	148204774	critical splice donor site	probably null
R3414:Ergic2	UTSW	6	148206681	splice site	probably benign
R3732:Ergic2	UTSW	6	148202522	missense	probably damaging	1.00
R3732:Ergic2	UTSW	6	148202522	missense	probably damaging	1.00
R3733:Ergic2	UTSW	6	148202522	missense	probably damaging	1.00
R3734:Ergic2	UTSW	6	148202522	missense	probably damaging	1.00
R5002:Ergic2	UTSW	6	148184158	missense	probably benign	0.00
R5083:Ergic2	UTSW	6	148196014	missense	probably benign	0.00
R5088:Ergic2	UTSW	6	148183123	missense	probably damaging	1.00
R5850:Ergic2	UTSW	6	148183107	missense	possibly damaging	0.93
R6541:Ergic2	UTSW	6	148183150	missense	probably damaging	1.00
R6652:Ergic2	UTSW	6	148189581	missense	probably damaging	1.00
R7073:Ergic2	UTSW	6	148195209	missense	probably damaging	1.00
R7167:Ergic2	UTSW	6	148206635	missense	probably damaging	1.00
R7275:Ergic2	UTSW	6	148195259	missense	probably damaging	1.00
R7299:Ergic2	UTSW	6	148188112	missense	probably damaging	1.00
R8732:Ergic2	UTSW	6	148201477	missense	probably damaging	1.00
R8948:Ergic2	UTSW	6	148202507	missense	probably damaging	0.99
R9437:Ergic2	UTSW	6	148196064	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- GTTCTCTAAAAGAGGTAAGTGGTTGTC -3'
(R):5'- CAGACGGCTTGGCTTCATTC -3'

Sequencing Primer
(F):5'- TGTCTGTGTGGCCATCCGC -3'
(R):5'- GGCTTCATTCCTTTTGTGGTCTAAC -3'

Posted On

2021-07-15