Incidental Mutation 'R5750:Agr3'
ID 445977
Institutional Source Beutler Lab
Gene Symbol Agr3
Ensembl Gene ENSMUSG00000036231
Gene Name anterior gradient 3
Synonyms E030025L21Rik, LOC380754
MMRRC Submission 043356-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R5750 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 35975620-35999736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35996941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 72 (Y72H)
Ref Sequence ENSEMBL: ENSMUSP00000049212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042101]
AlphaFold Q8R3W7
Predicted Effect probably benign
Transcript: ENSMUST00000042101
AA Change: Y72H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000049212
Gene: ENSMUSG00000036231
AA Change: Y72H

DomainStartEndE-ValueType
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 0.0921 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (55/55)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmat G A 4: 141,476,998 (GRCm39) V135I probably benign Het
Ankhd1 T A 18: 36,757,955 (GRCm39) M883K probably benign Het
Cpeb1 A T 7: 81,086,099 (GRCm39) D9E probably benign Het
Creb3l1 C T 2: 91,816,608 (GRCm39) V386M possibly damaging Het
Dnlz C T 2: 26,241,423 (GRCm39) V102M probably damaging Het
Esp4 C T 17: 40,913,286 (GRCm39) T51M probably benign Het
Fap C A 2: 62,359,058 (GRCm39) C443F probably damaging Het
Fbxo17 G A 7: 28,436,897 (GRCm39) R284H probably damaging Het
Fpr1 T A 17: 18,097,525 (GRCm39) I155F probably benign Het
Fshr T A 17: 89,293,669 (GRCm39) L336F probably benign Het
Gna15 G A 10: 81,345,230 (GRCm39) Q212* probably null Het
Hk1 A G 10: 62,110,245 (GRCm39) F785L possibly damaging Het
Ints8 T A 4: 11,241,654 (GRCm39) Q263L possibly damaging Het
Itgax T C 7: 127,743,878 (GRCm39) F880L probably benign Het
Kcnq4 A C 4: 120,572,246 (GRCm39) V327G probably damaging Het
Kdm4a A G 4: 117,999,396 (GRCm39) probably benign Het
Leng8 C T 7: 4,145,119 (GRCm39) S173L probably benign Het
Lrrc37a C T 11: 103,348,923 (GRCm39) D2591N unknown Het
Macrod2 T A 2: 141,357,240 (GRCm39) S179T probably benign Het
Map4k2 T A 19: 6,401,367 (GRCm39) S612R probably benign Het
Mast2 A G 4: 116,166,086 (GRCm39) probably benign Het
Micall2 C T 5: 139,701,456 (GRCm39) probably null Het
Miga2 T A 2: 30,261,577 (GRCm39) W191R probably damaging Het
Mterf1b T C 5: 4,246,683 (GRCm39) I108T probably damaging Het
Myh2 A G 11: 67,082,254 (GRCm39) I1319V probably benign Het
Nalcn T C 14: 123,809,450 (GRCm39) E234G probably benign Het
Ncoa4 T A 14: 31,899,264 (GRCm39) C602* probably null Het
Ntrk2 C A 13: 58,956,736 (GRCm39) P65Q probably benign Het
Or52z15 G A 7: 103,332,362 (GRCm39) V136I possibly damaging Het
Or6c215 C T 10: 129,637,489 (GRCm39) V302M probably benign Het
P3h1 A T 4: 119,095,863 (GRCm39) I324F probably damaging Het
Peli2 G T 14: 48,493,632 (GRCm39) V285L possibly damaging Het
Qser1 A G 2: 104,619,268 (GRCm39) S515P probably damaging Het
Rnf31 C T 14: 55,836,143 (GRCm39) R721C probably damaging Het
Rps5 A G 7: 12,659,334 (GRCm39) K42E probably damaging Het
Rufy4 A T 1: 74,172,068 (GRCm39) T264S probably benign Het
Shq1 A T 6: 100,588,775 (GRCm39) V259D possibly damaging Het
Slc22a3 T C 17: 12,652,395 (GRCm39) I410V probably benign Het
Stx5a T C 19: 8,732,501 (GRCm39) probably benign Het
Syne1 G T 10: 5,289,209 (GRCm39) H1430Q probably benign Het
Tasor2 G A 13: 3,623,642 (GRCm39) Q1421* probably null Het
Tmem126b A C 7: 90,118,865 (GRCm39) V141G probably damaging Het
Trim52 C A 14: 106,344,932 (GRCm39) Q197K probably benign Het
Tshz1 A G 18: 84,032,086 (GRCm39) L774P possibly damaging Het
Ttn T C 2: 76,602,031 (GRCm39) S10217G possibly damaging Het
Unc45a A G 7: 79,984,571 (GRCm39) V228A probably benign Het
Unc93a2 C T 17: 7,637,130 (GRCm39) V133I probably benign Het
Vwa2 G T 19: 56,897,663 (GRCm39) G656V probably benign Het
Xpo5 T C 17: 46,529,556 (GRCm39) probably null Het
Zeb2 T A 2: 44,887,530 (GRCm39) Q494L probably damaging Het
Other mutations in Agr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02902:Agr3 APN 12 35,996,915 (GRCm39) missense probably damaging 0.99
R0031:Agr3 UTSW 12 35,997,590 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TGTGTTCTGTGGCCATATACC -3'
(R):5'- GCCCATAGGTGGCTCTTTCTTG -3'

Sequencing Primer
(F):5'- GTCACATTGCCATGAAGTATGAGCC -3'
(R):5'- GGTCTTTAAGCATCTTGGTAGAATG -3'
Posted On 2016-11-21