Incidental Mutation 'R0031:Agr3'
ID 18633
Institutional Source Beutler Lab
Gene Symbol Agr3
Ensembl Gene ENSMUSG00000036231
Gene Name anterior gradient 3
Synonyms E030025L21Rik, LOC380754
MMRRC Submission 038325-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R0031 (G1)
Quality Score
Status Validated
Chromosome 12
Chromosomal Location 35975620-35999736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35997590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 100 (M100T)
Ref Sequence ENSEMBL: ENSMUSP00000049212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042101]
AlphaFold Q8R3W7
Predicted Effect probably benign
Transcript: ENSMUST00000042101
AA Change: M100T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000049212
Gene: ENSMUSG00000036231
AA Change: M100T

signal peptide 1 20 N/A INTRINSIC
Pfam:Thioredox_DsbH 21 115 9.8e-10 PFAM
Pfam:Thioredoxin_7 42 123 3.9e-26 PFAM
Meta Mutation Damage Score 0.0860 question?
Coding Region Coverage
  • 1x: 81.0%
  • 3x: 73.5%
  • 10x: 52.2%
  • 20x: 32.1%
Validation Efficiency 93% (95/102)
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 gene is expressed in ciliated airway epithelial cells and, in mouse, plays a role in ciliary beat frequency in multiciliated cells. This gene is also over-expressed in breast, ovarian, and prostrate cancers. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 G A 2: 69,115,652 (GRCm39) R571C probably damaging Het
Ankrd7 T A 6: 18,870,007 (GRCm39) Y253* probably null Het
Atp2c2 A T 8: 120,475,801 (GRCm39) T565S probably benign Het
Ccdc88b G T 19: 6,831,151 (GRCm39) S597Y possibly damaging Het
Celsr2 T C 3: 108,320,379 (GRCm39) N811S probably damaging Het
Cep170 A T 1: 176,583,657 (GRCm39) D907E probably damaging Het
Cip2a C T 16: 48,837,736 (GRCm39) S812F probably benign Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Cmss1 T G 16: 57,131,612 (GRCm39) probably null Het
Cobl T C 11: 12,204,945 (GRCm39) T579A probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Csrp2 C T 10: 110,774,601 (GRCm39) S172L probably benign Het
Fip1l1 T C 5: 74,717,770 (GRCm39) S235P probably damaging Het
Gbgt1 T A 2: 28,388,462 (GRCm39) probably benign Het
Gml2 T C 15: 74,696,125 (GRCm39) I173T probably benign Het
Gucy2c T A 6: 136,674,997 (GRCm39) I1005F probably damaging Het
Irak3 T A 10: 120,012,225 (GRCm39) K88* probably null Het
Klc1 T C 12: 111,743,467 (GRCm39) Y265H probably damaging Het
Lamb1 G A 12: 31,351,155 (GRCm39) V754I probably benign Het
Lrguk A T 6: 34,020,431 (GRCm39) Q58H probably damaging Het
Lyst A G 13: 13,882,741 (GRCm39) D2902G probably benign Het
Mtpap T A 18: 4,383,244 (GRCm39) I207N probably damaging Het
Ncdn A T 4: 126,643,901 (GRCm39) probably null Het
Nup160 A G 2: 90,547,931 (GRCm39) probably null Het
Ormdl1 A G 1: 53,338,318 (GRCm39) probably benign Het
Pde5a A G 3: 122,596,704 (GRCm39) M432V probably benign Het
Pikfyve T A 1: 65,255,088 (GRCm39) probably benign Het
Plcb2 A G 2: 118,545,942 (GRCm39) V581A probably benign Het
Plpp6 T A 19: 28,942,243 (GRCm39) N281K probably benign Het
Pwp1 T C 10: 85,721,760 (GRCm39) I422T probably benign Het
Rims1 T C 1: 22,367,103 (GRCm39) N1199S probably damaging Het
Sema3c T C 5: 17,899,726 (GRCm39) L406P probably damaging Het
Senp6 C T 9: 80,033,525 (GRCm39) P84L probably damaging Het
Setx A G 2: 29,066,941 (GRCm39) I2361V probably benign Het
Slc25a12 C T 2: 71,163,958 (GRCm39) V106M possibly damaging Het
Slc3a1 A G 17: 85,340,274 (GRCm39) Y232C probably damaging Het
Spata31g1 A T 4: 42,973,712 (GRCm39) K1015M probably damaging Het
Taf1c A T 8: 120,325,829 (GRCm39) C678S probably benign Het
Tcp11l2 G T 10: 84,427,004 (GRCm39) C156F probably damaging Het
Tmem62 A G 2: 120,829,594 (GRCm39) T316A probably benign Het
Ulk4 A G 9: 121,102,048 (GRCm39) I10T probably damaging Het
Vps54 T C 11: 21,262,899 (GRCm39) I824T probably damaging Het
Wdfy3 A T 5: 102,037,161 (GRCm39) V2042E probably damaging Het
Wfdc6b A T 2: 164,455,779 (GRCm39) E36V probably damaging Het
Xpc C T 6: 91,468,208 (GRCm39) A860T probably benign Het
Other mutations in Agr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02902:Agr3 APN 12 35,996,915 (GRCm39) missense probably damaging 0.99
R0033:Agr3 UTSW 12 35,978,329 (GRCm39) missense possibly damaging 0.68
R0033:Agr3 UTSW 12 35,978,329 (GRCm39) missense possibly damaging 0.68
R0546:Agr3 UTSW 12 35,978,329 (GRCm39) missense probably benign 0.37
R0963:Agr3 UTSW 12 35,984,433 (GRCm39) missense probably benign 0.00
R1498:Agr3 UTSW 12 35,984,379 (GRCm39) critical splice acceptor site probably null
R1619:Agr3 UTSW 12 35,997,858 (GRCm39) splice site probably null
R3945:Agr3 UTSW 12 35,997,512 (GRCm39) splice site probably benign
R3946:Agr3 UTSW 12 35,997,512 (GRCm39) splice site probably benign
R4678:Agr3 UTSW 12 35,997,832 (GRCm39) missense probably damaging 1.00
R5475:Agr3 UTSW 12 35,997,539 (GRCm39) missense probably benign 0.00
R5750:Agr3 UTSW 12 35,996,941 (GRCm39) missense probably benign 0.00
R6748:Agr3 UTSW 12 35,997,594 (GRCm39) splice site probably null
R8092:Agr3 UTSW 12 35,997,593 (GRCm39) critical splice donor site probably null
R9568:Agr3 UTSW 12 35,998,349 (GRCm39) missense probably benign
Posted On 2013-03-25