Mutagenetix > Incidental Mutation

Incidental Mutation 'R8118:Agr2'

631356

Institutional Source

Beutler Lab

Gene Symbol

Agr2

Ensembl Gene

ENSMUSG00000020581

Gene Name

anterior gradient 2

Synonyms

mAG-2, HAG-2, XAG-2, Gob-4

MMRRC Submission

067547-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.504) question?

Stock #

R8118 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36042924-36054080 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36046106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 79 (D79G)

Ref Sequence

ENSEMBL: ENSMUSP00000020898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020898]

AlphaFold

O88312

Predicted Effect

probably benign
Transcript: ENSMUST00000020898
AA Change: D79G

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020898
Gene: ENSMUSG00000020581
AA Change: D79G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Thioredoxin_7	53	133	1.9e-26	PFAM

Meta Mutation Damage Score

0.1688

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.2%
20x: 91.1%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and a C-terminal ER-retention sequence. This protein plays a role in cell migration, cellular transformation and metastasis and is as a p53 inhibitor. As an ER-localized molecular chaperone, it plays a role in the folding, trafficking, and assembly of cysteine-rich transmembrane receptors and the cysteine-rich intestinal gylcoprotein mucin. This gene has been implicated in inflammatory bowel disease and cancer progression. [provided by RefSeq, Mar 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit colitis and increased susceptibility to induced colitis. Mice homozygous for another knock-out allele exhibit hyperplasia and defective lineage maturation in the stomach that leads to intestinal obstruction and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	T	C	16: 85,592,821 (GRCm39)	D792G	probably damaging	Het
Adcy7	A	G	8: 89,042,384 (GRCm39)	H417R	probably damaging	Het
Ankle1	T	C	8: 71,860,279 (GRCm39)	S286P	probably benign	Het
Arhgef11	T	C	3: 87,643,164 (GRCm39)	S1488P	probably damaging	Het
Atp6v0a2	T	C	5: 124,789,837 (GRCm39)	M421T	probably damaging	Het
Cdk17	C	A	10: 93,052,252 (GRCm39)	Q111K	possibly damaging	Het
Cimap2	T	A	4: 106,470,595 (GRCm39)	R192S	possibly damaging	Het
Cobl	A	G	11: 12,204,834 (GRCm39)	S623P	probably benign	Het
Dgka	C	T	10: 128,558,318 (GRCm39)		probably null	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Dsg2	A	G	18: 20,715,858 (GRCm39)	I267V	probably benign	Het
Exoc4	T	C	6: 33,948,853 (GRCm39)	Y899H	probably damaging	Het
Fat3	A	G	9: 15,871,400 (GRCm39)	F3664L	probably benign	Het
Fbxo47	C	T	11: 97,770,341 (GRCm39)	C17Y	probably benign	Het
Gm2888	G	T	14: 3,037,628 (GRCm38)	V207F	probably benign	Het
Gpr61	A	G	3: 108,057,888 (GRCm39)	S258P	probably damaging	Het
H2-T9	C	T	17: 36,438,582 (GRCm39)	V270M	probably damaging	Het
Hectd4	C	T	5: 121,424,439 (GRCm39)	H700Y	probably benign	Het
Hs3st2	C	T	7: 120,996,651 (GRCm39)	T154I	probably benign	Het
Inf2	A	T	12: 112,567,871 (GRCm39)	H167L	probably damaging	Het
Ints3	C	T	3: 90,307,606 (GRCm39)		probably null	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Itgal	C	A	7: 126,910,417 (GRCm39)	Q509K	probably benign	Het
Klhl20	A	T	1: 160,925,971 (GRCm39)		probably null	Het
Krtap4-13	C	T	11: 99,700,224 (GRCm39)	C145Y	unknown	Het
Large1	A	G	8: 73,858,572 (GRCm39)	S99P	probably benign	Het
Lrba	A	T	3: 86,261,533 (GRCm39)	I1496L	probably benign	Het
Map2	A	T	1: 66,464,550 (GRCm39)	I1647F	probably damaging	Het
Map3k10	A	G	7: 27,372,842 (GRCm39)	V203A	possibly damaging	Het
Mcmdc2	T	A	1: 9,986,599 (GRCm39)	N166K	possibly damaging	Het
Mlxipl	T	G	5: 135,166,102 (GRCm39)	L828R	possibly damaging	Het
Mnat1	A	G	12: 73,265,864 (GRCm39)	I253V	probably benign	Het
Mtfp1	A	G	11: 4,043,910 (GRCm39)	S107P	probably damaging	Het
Nebl	T	A	2: 17,384,631 (GRCm39)	Y65F	possibly damaging	Het
Nelfb	A	T	2: 25,095,171 (GRCm39)	D339E	possibly damaging	Het
Nlrc3	T	A	16: 3,783,495 (GRCm39)	I20L	probably benign	Het
Nup205	T	A	6: 35,207,451 (GRCm39)	M1501K	probably benign	Het
Or14a258	A	T	7: 86,034,976 (GRCm39)	C297*	probably null	Het
Or1ad8	A	G	11: 50,898,327 (GRCm39)	H176R	probably damaging	Het
Or2t6	A	G	14: 14,175,863 (GRCm38)	I73T	probably damaging	Het
Or4k15b	T	C	14: 50,272,608 (GRCm39)	D84G	probably benign	Het
Or5b123	T	A	19: 13,597,109 (GRCm39)	N151K	probably damaging	Het
Or5g29	T	A	2: 85,421,332 (GRCm39)	Y149*	probably null	Het
Palm3	A	G	8: 84,756,438 (GRCm39)	E650G	probably damaging	Het
Prps1l1	C	A	12: 35,035,340 (GRCm39)	L152M	probably damaging	Het
Rgs7bp	C	A	13: 105,189,629 (GRCm39)	V57F	probably damaging	Het
Scaf8	T	A	17: 3,214,458 (GRCm39)	V171D	unknown	Het
Sf3a2	T	C	10: 80,639,474 (GRCm39)	Y155H	probably damaging	Het
Sfrp1	T	G	8: 23,902,000 (GRCm39)	L67R	probably damaging	Het
Shank2	A	T	7: 143,963,612 (GRCm39)	I407L	probably benign	Het
Skint6	T	C	4: 112,722,872 (GRCm39)	T902A	possibly damaging	Het
Skint6	A	C	4: 113,013,691 (GRCm39)	S353R	possibly damaging	Het
Srrm2	T	A	17: 24,027,057 (GRCm39)	I87N	unknown	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Svs3b	A	G	2: 164,097,926 (GRCm39)	S132P	probably damaging	Het
Tbc1d17	G	T	7: 44,492,426 (GRCm39)	F412L	probably benign	Het
Tex29	A	T	8: 11,904,263 (GRCm39)	E116D	unknown	Het
Tmem204	T	C	17: 25,299,312 (GRCm39)	D69G	possibly damaging	Het
Ttll10	G	A	4: 156,129,219 (GRCm39)	R308C	probably benign	Het
Ttn	T	A	2: 76,577,508 (GRCm39)	I24462F	probably damaging	Het
Tubg2	A	G	11: 101,052,304 (GRCm39)	E411G	probably damaging	Het
Ugt2b38	T	C	5: 87,571,630 (GRCm39)	N134S	probably damaging	Het
Usp31	T	C	7: 121,276,485 (GRCm39)	T351A	probably damaging	Het
Usp33	T	C	3: 152,065,996 (GRCm39)	L92S	probably damaging	Het
Vmn2r20	A	T	6: 123,373,429 (GRCm39)	I471N	probably damaging	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Wnk2	A	G	13: 49,244,459 (GRCm39)	V459A	probably damaging	Het

Other mutations in Agr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01284:Agr2	APN	12	36,045,580 (GRCm39)	missense	possibly damaging	0.63
IGL02081:Agr2	APN	12	36,045,655 (GRCm39)	critical splice donor site	probably null
IGL03190:Agr2	APN	12	36,048,634 (GRCm39)	missense	probably damaging	1.00
IGL02835:Agr2	UTSW	12	36,045,903 (GRCm39)	missense	probably benign	0.23
R5514:Agr2	UTSW	12	36,046,090 (GRCm39)	missense	probably benign
R5894:Agr2	UTSW	12	36,045,509 (GRCm39)	splice site	probably benign
R6196:Agr2	UTSW	12	36,045,591 (GRCm39)	nonsense	probably null
R6584:Agr2	UTSW	12	36,045,625 (GRCm39)	missense	probably benign
R6585:Agr2	UTSW	12	36,045,625 (GRCm39)	missense	probably benign
R6850:Agr2	UTSW	12	36,045,558 (GRCm39)	missense	probably benign
R7384:Agr2	UTSW	12	36,045,923 (GRCm39)	missense	probably damaging	0.98
R7459:Agr2	UTSW	12	36,047,452 (GRCm39)	missense	probably benign	0.20
R7533:Agr2	UTSW	12	36,046,128 (GRCm39)	critical splice donor site	probably null
R7567:Agr2	UTSW	12	36,045,946 (GRCm39)	missense	probably benign	0.00
R8039:Agr2	UTSW	12	36,045,558 (GRCm39)	missense	probably benign	0.10
R9026:Agr2	UTSW	12	36,046,091 (GRCm39)	missense	probably benign	0.03
R9031:Agr2	UTSW	12	36,045,565 (GRCm39)	missense	probably benign
R9063:Agr2	UTSW	12	36,053,898 (GRCm39)	makesense	probably null
R9259:Agr2	UTSW	12	36,053,863 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGACTCAGACATACGAAGAAGC -3'
(R):5'- TGAACACGAACACCAGGATTTC -3'

Sequencing Primer
(F):5'- GCTTTATACAGATCCAAGACAAGG -3'
(R):5'- CGAACACCAGGATTTCTTACAC -3'

Posted On

2020-06-30