Incidental Mutation 'R0031:Agr3'
Institutional Source Beutler Lab
Gene Symbol Agr3
Ensembl Gene ENSMUSG00000036231
Gene Nameanterior gradient 3
SynonymsLOC380754, E030025L21Rik
MMRRC Submission 038325-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #R0031 (G1)
Quality Score
Status Validated
Chromosomal Location35925620-35949736 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 35947591 bp
Amino Acid Change Methionine to Threonine at position 100 (M100T)
Ref Sequence ENSEMBL: ENSMUSP00000049212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042101]
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
1700022I11Rik A T 4: 42,973,712 K1015M probably damaging Het
Abcb11 G A 2: 69,285,308 R571C probably damaging Het
Ankrd7 T A 6: 18,870,008 Y253* probably null Het
Atp2c2 A T 8: 119,749,062 T565S probably benign Het
C330027C09Rik C T 16: 49,017,373 S812F probably benign Het
Ccdc88b G T 19: 6,853,783 S597Y possibly damaging Het
Celsr2 T C 3: 108,413,063 N811S probably damaging Het
Cep170 A T 1: 176,756,091 D907E probably damaging Het
Clstn1 G A 4: 149,634,796 V361M probably damaging Het
Cmss1 T G 16: 57,311,249 probably null Het
Cobl T C 11: 12,254,945 T579A probably benign Het
Col1a2 G A 6: 4,518,822 probably benign Het
Csrp2 C T 10: 110,938,740 S172L probably benign Het
Fip1l1 T C 5: 74,557,109 S235P probably damaging Het
Gbgt1 T A 2: 28,498,450 probably benign Het
Gml2 T C 15: 74,824,276 I173T probably benign Het
Gucy2c T A 6: 136,697,999 I1005F probably damaging Het
Irak3 T A 10: 120,176,320 K88* probably null Het
Klc1 T C 12: 111,777,033 Y265H probably damaging Het
Lamb1 G A 12: 31,301,156 V754I probably benign Het
Lrguk A T 6: 34,043,496 Q58H probably damaging Het
Lyst A G 13: 13,708,156 D2902G probably benign Het
Mtpap T A 18: 4,383,244 I207N probably damaging Het
Ncdn A T 4: 126,750,108 probably null Het
Nup160 A G 2: 90,717,587 probably null Het
Ormdl1 A G 1: 53,299,159 probably benign Het
Pde5a A G 3: 122,803,055 M432V probably benign Het
Pikfyve T A 1: 65,215,929 probably benign Het
Plcb2 A G 2: 118,715,461 V581A probably benign Het
Plpp6 T A 19: 28,964,843 N281K probably benign Het
Pwp1 T C 10: 85,885,896 I422T probably benign Het
Rims1 T C 1: 22,296,879 N1199S probably damaging Het
Sema3c T C 5: 17,694,728 L406P probably damaging Het
Senp6 C T 9: 80,126,243 P84L probably damaging Het
Setx A G 2: 29,176,929 I2361V probably benign Het
Slc25a12 C T 2: 71,333,614 V106M possibly damaging Het
Slc3a1 A G 17: 85,032,846 Y232C probably damaging Het
Taf1c A T 8: 119,599,090 C678S probably benign Het
Tcp11l2 G T 10: 84,591,140 C156F probably damaging Het
Tmem62 A G 2: 120,999,113 T316A probably benign Het
Ulk4 A G 9: 121,272,982 I10T probably damaging Het
Vps54 T C 11: 21,312,899 I824T probably damaging Het
Wdfy3 A T 5: 101,889,295 V2042E probably damaging Het
Wfdc6b A T 2: 164,613,859 E36V probably damaging Het
Xpc C T 6: 91,491,226 A860T probably benign Het
Other mutations in Agr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02902:Agr3 APN 12 35946916 missense probably damaging 0.99
R0033:Agr3 UTSW 12 35928330 missense possibly damaging 0.68
R0033:Agr3 UTSW 12 35928330 missense possibly damaging 0.68
R0546:Agr3 UTSW 12 35928330 missense probably benign 0.37
R0963:Agr3 UTSW 12 35934434 missense probably benign 0.00
R1498:Agr3 UTSW 12 35934380 critical splice acceptor site probably null
R1619:Agr3 UTSW 12 35947859 splice site probably null
R3945:Agr3 UTSW 12 35947513 splice site probably benign
R3946:Agr3 UTSW 12 35947513 splice site probably benign
R4678:Agr3 UTSW 12 35947833 missense probably damaging 1.00
R5475:Agr3 UTSW 12 35947540 missense probably benign 0.00
R5750:Agr3 UTSW 12 35946942 missense probably benign 0.00
R6748:Agr3 UTSW 12 35947595 splice site probably null
R8092:Agr3 UTSW 12 35947594 critical splice donor site probably null
Posted On2013-03-25