Incidental Mutation 'IGL02323:Actrt2'
ID 288350
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actrt2
Ensembl Gene ENSMUSG00000051276
Gene Name actin-related protein T2
Synonyms 1700052K15Rik, Arp-T2, Arpm2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL02323
Quality Score
Status
Chromosome 4
Chromosomal Location 154750890-154752324 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 154751255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 294 (T294A)
Ref Sequence ENSEMBL: ENSMUSP00000050377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060062]
AlphaFold Q9D9L5
Predicted Effect probably benign
Transcript: ENSMUST00000060062
AA Change: T294A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000050377
Gene: ENSMUSG00000051276
AA Change: T294A

DomainStartEndE-ValueType
ACTIN 9 377 1.01e-146 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its specific synthesis in the testis, late in spermatid differentiation, and its localization in the calyx. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache A G 5: 137,289,326 (GRCm39) E344G probably damaging Het
Afg1l C A 10: 42,330,506 (GRCm39) E54* probably null Het
Ahi1 T C 10: 20,847,933 (GRCm39) I447T probably damaging Het
Akap6 T C 12: 53,187,212 (GRCm39) I1542T probably benign Het
Ankrd34c A C 9: 89,612,033 (GRCm39) S103A possibly damaging Het
Apc C T 18: 34,448,863 (GRCm39) Q1886* probably null Het
Bcas3 A G 11: 85,386,671 (GRCm39) T148A probably damaging Het
Bud13 A G 9: 46,194,350 (GRCm39) T8A probably benign Het
Casr A T 16: 36,330,072 (GRCm39) Y421N probably damaging Het
Ccdc121rt2 A G 5: 112,597,600 (GRCm39) Y49C probably benign Het
Clasp2 T C 9: 113,697,794 (GRCm39) probably benign Het
Clca4b T C 3: 144,619,082 (GRCm39) T686A probably benign Het
Cntln T A 4: 84,968,026 (GRCm39) H748Q probably benign Het
Dmtf1 A T 5: 9,170,056 (GRCm39) D683E possibly damaging Het
Dnmt3l A G 10: 77,899,152 (GRCm39) K117R probably damaging Het
Eif2a T C 3: 58,456,024 (GRCm39) M341T possibly damaging Het
Epg5 T A 18: 78,056,047 (GRCm39) Y1740* probably null Het
Fam149b C T 14: 20,413,369 (GRCm39) T157I possibly damaging Het
Fam89b A G 19: 5,778,899 (GRCm39) probably null Het
Fbxo3 T A 2: 103,878,296 (GRCm39) N232K probably benign Het
Gnl3 A C 14: 30,739,359 (GRCm39) H16Q probably damaging Het
Gpld1 T G 13: 25,166,757 (GRCm39) V669G probably damaging Het
Grik3 A G 4: 125,579,783 (GRCm39) probably benign Het
Gzmg A C 14: 56,394,729 (GRCm39) Y180D probably benign Het
H2-M9 A T 17: 36,951,633 (GRCm39) Y281N probably damaging Het
Katnip T A 7: 125,442,001 (GRCm39) S637T probably benign Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Mrs2 T A 13: 25,188,940 (GRCm39) I125F probably damaging Het
Nfam1 T A 15: 82,907,152 (GRCm39) N15I probably benign Het
Nol8 T A 13: 49,808,721 (GRCm39) probably benign Het
Obscn A G 11: 58,899,348 (GRCm39) V6483A possibly damaging Het
Or2a56 A T 6: 42,932,917 (GRCm39) I162F probably benign Het
Osbpl3 A G 6: 50,323,306 (GRCm39) probably null Het
Plaat3 G A 19: 7,552,357 (GRCm39) W24* probably null Het
Ppfibp2 A T 7: 107,337,836 (GRCm39) Q652H probably damaging Het
Rbm47 A G 5: 66,183,772 (GRCm39) V277A probably damaging Het
Robo3 G A 9: 37,333,497 (GRCm39) A716V probably benign Het
Scart1 G T 7: 139,808,572 (GRCm39) A828S probably benign Het
Semp2l1 A T 1: 32,584,785 (GRCm39) L375* probably null Het
Slc29a4 A G 5: 142,703,407 (GRCm39) E227G probably damaging Het
Slf1 T C 13: 77,199,413 (GRCm39) D656G possibly damaging Het
Sox1 A G 8: 12,446,692 (GRCm39) H111R possibly damaging Het
Spmip9 A G 6: 70,890,679 (GRCm39) probably benign Het
Svep1 G A 4: 58,070,236 (GRCm39) Q2517* probably null Het
Syndig1 G T 2: 149,741,707 (GRCm39) V98L probably benign Het
Synpo2 T C 3: 122,911,183 (GRCm39) E154G probably benign Het
Tkt G A 14: 30,292,992 (GRCm39) G490S possibly damaging Het
Tmem200a T C 10: 25,869,328 (GRCm39) N314D probably benign Het
Tnfaip8l1 A T 17: 56,479,009 (GRCm39) T100S probably damaging Het
Traf7 C A 17: 24,732,020 (GRCm39) C193F possibly damaging Het
Trim12c C T 7: 103,997,473 (GRCm39) A28T probably benign Het
Trpc7 C A 13: 56,931,564 (GRCm39) V595L possibly damaging Het
Ttc39c A G 18: 12,869,800 (GRCm39) R575G probably null Het
Ttn T G 2: 76,681,919 (GRCm39) probably benign Het
Ttn C T 2: 76,553,609 (GRCm39) V31003M probably damaging Het
Ugt2b37 A T 5: 87,398,423 (GRCm39) probably benign Het
Uqcrb A T 13: 67,050,874 (GRCm39) probably benign Het
Usp33 T A 3: 152,076,024 (GRCm39) W415R probably benign Het
Vmn2r110 A T 17: 20,816,399 (GRCm39) D41E probably damaging Het
Vmn2r98 A T 17: 19,286,113 (GRCm39) I204F probably damaging Het
Other mutations in Actrt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01778:Actrt2 APN 4 154,751,162 (GRCm39) missense probably benign 0.01
R0526:Actrt2 UTSW 4 154,751,869 (GRCm39) missense probably damaging 1.00
R1567:Actrt2 UTSW 4 154,751,371 (GRCm39) missense possibly damaging 0.55
R2120:Actrt2 UTSW 4 154,751,551 (GRCm39) missense probably benign 0.01
R4322:Actrt2 UTSW 4 154,751,701 (GRCm39) missense probably damaging 0.99
R4623:Actrt2 UTSW 4 154,751,747 (GRCm39) missense probably benign
R4824:Actrt2 UTSW 4 154,751,344 (GRCm39) missense probably damaging 1.00
R5253:Actrt2 UTSW 4 154,752,026 (GRCm39) missense possibly damaging 0.45
R5880:Actrt2 UTSW 4 154,751,747 (GRCm39) missense probably benign
R6026:Actrt2 UTSW 4 154,751,047 (GRCm39) missense possibly damaging 0.83
R6763:Actrt2 UTSW 4 154,751,836 (GRCm39) missense probably damaging 0.96
R7247:Actrt2 UTSW 4 154,751,880 (GRCm39) missense probably benign 0.32
R7502:Actrt2 UTSW 4 154,751,383 (GRCm39) missense probably benign
R7896:Actrt2 UTSW 4 154,751,652 (GRCm39) missense probably benign 0.00
R8032:Actrt2 UTSW 4 154,751,955 (GRCm39) missense probably benign 0.01
R8108:Actrt2 UTSW 4 154,751,493 (GRCm39) missense probably benign 0.01
R8794:Actrt2 UTSW 4 154,751,176 (GRCm39) missense probably damaging 0.98
R9105:Actrt2 UTSW 4 154,751,677 (GRCm39) missense probably damaging 1.00
R9207:Actrt2 UTSW 4 154,751,920 (GRCm39) missense probably benign 0.23
Z1176:Actrt2 UTSW 4 154,751,289 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16