Incidental Mutation 'R8032:Actrt2'
ID 618007
Institutional Source Beutler Lab
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 # R8032 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 154750890-154752324 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 154751955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 60 (E60D)
Ref Sequence ENSEMBL: ENSMUSP00000050377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060062]
AlphaFold Q9D9L5
Predicted Effect probably benign
Transcript: ENSMUST00000060062
AA Change: E60D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000050377
Gene: ENSMUSG00000051276
AA Change: E60D

DomainStartEndE-ValueType
ACTIN 9 377 1.01e-146 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 T C 15: 11,259,189 (GRCm39) probably null Het
Ak9 T A 10: 41,300,616 (GRCm39) C1609S unknown Het
Aox1 A T 1: 58,389,442 (GRCm39) Y1147F probably benign Het
Atf7ip T C 6: 136,542,110 (GRCm39) F615L probably benign Het
BC005624 A G 2: 30,865,901 (GRCm39) probably null Het
BC024063 T A 10: 81,943,738 (GRCm39) M33K probably benign Het
Bmpr2 T A 1: 59,906,502 (GRCm39) S532T probably benign Het
Cast G A 13: 74,883,360 (GRCm39) Q292* probably null Het
Ccdc7a G T 8: 129,551,864 (GRCm39) H1249N unknown Het
Cd177 C T 7: 24,455,594 (GRCm39) W309* probably null Het
Col15a1 T C 4: 47,288,108 (GRCm39) I4T unknown Het
Cyp2c39 A G 19: 39,499,426 (GRCm39) I38V probably benign Het
Dmpk A G 7: 18,821,978 (GRCm39) D312G possibly damaging Het
Dnah1 T C 14: 30,993,505 (GRCm39) D2892G probably damaging Het
Dnah10 G A 5: 124,823,676 (GRCm39) D566N probably damaging Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Exd2 T A 12: 80,536,427 (GRCm39) D352E probably benign Het
Fgf8 A T 19: 45,725,676 (GRCm39) L187Q probably damaging Het
Frrs1 A G 3: 116,672,009 (GRCm39) I36V probably benign Het
Gga2 A T 7: 121,620,210 (GRCm39) probably null Het
Gigyf2 C G 1: 87,334,735 (GRCm39) H249D unknown Het
Gli2 A T 1: 118,763,900 (GRCm39) M1417K probably damaging Het
Gm10801 C CGTA 2: 98,494,152 (GRCm39) probably null Het
Gm49380 A T 9: 44,023,000 (GRCm39) I416N probably damaging Het
Gpr137 T C 19: 6,919,480 (GRCm39) T16A unknown Het
Grid1 T A 14: 35,045,316 (GRCm39) D386E probably benign Het
Grm3 A G 5: 9,562,272 (GRCm39) V526A probably benign Het
Havcr2 A T 11: 46,370,118 (GRCm39) I231F probably damaging Het
Icam5 C A 9: 20,944,514 (GRCm39) R72S probably benign Het
Ighv9-2 T A 12: 114,072,764 (GRCm39) I70L possibly damaging Het
Inpp5e C T 2: 26,286,865 (GRCm39) S119N Het
Kash5 CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC 7: 44,837,608 (GRCm39) probably benign Het
Kash5 TCAGGC TCAGGCACAGGC 7: 44,837,630 (GRCm39) probably benign Het
Kxd1 T A 8: 70,966,791 (GRCm39) D110V possibly damaging Het
Mbd4 A G 6: 115,821,594 (GRCm39) S474P probably damaging Het
Meaf6 C A 4: 124,996,795 (GRCm39) H168Q unknown Het
Nek2 T C 1: 191,558,457 (GRCm39) L254S probably damaging Het
Nhej1 T C 1: 75,007,959 (GRCm39) D104G probably benign Het
Nmnat3 A G 9: 98,292,271 (GRCm39) E172G probably benign Het
Npm3 A T 19: 45,736,682 (GRCm39) D152E probably benign Het
Nsd1 A T 13: 55,458,196 (GRCm39) K2103M probably damaging Het
Ntrk3 C T 7: 78,005,807 (GRCm39) R518H probably damaging Het
Nup210 T A 6: 91,051,331 (GRCm39) T351S probably benign Het
Or10h5 T A 17: 33,434,924 (GRCm39) R131S possibly damaging Het
Or9g19 A G 2: 85,600,210 (GRCm39) I22V probably benign Het
Otof T A 5: 30,619,142 (GRCm39) M1L probably benign Het
Pacs2 T A 12: 113,025,278 (GRCm39) Y477N probably damaging Het
Panx3 A G 9: 37,572,966 (GRCm39) Y195H probably damaging Het
Pcsk5 T C 19: 17,692,151 (GRCm39) R178G probably damaging Het
Pde7a A G 3: 19,314,429 (GRCm39) S56P possibly damaging Het
Prcp T G 7: 92,577,906 (GRCm39) C392G probably damaging Het
Prkdc A G 16: 15,597,315 (GRCm39) K2825R probably benign Het
Ptpn12 T C 5: 21,203,041 (GRCm39) H579R probably benign Het
Rbl1 A T 2: 157,029,918 (GRCm39) Y468* probably null Het
Rbmxl2 A G 7: 106,809,429 (GRCm39) Y238C probably damaging Het
Scgb2b20 A T 7: 33,065,724 (GRCm39) M1K probably null Het
Slc25a18 G A 6: 120,769,452 (GRCm39) G237D probably damaging Het
Slc9a3 G A 13: 74,305,763 (GRCm39) G260D probably damaging Het
Sorcs1 A T 19: 50,463,846 (GRCm39) S201R probably benign Het
Strip1 A C 3: 107,525,394 (GRCm39) D547E probably damaging Het
Thsd7a C T 6: 12,555,287 (GRCm39) C199Y Het
Top1mt A G 15: 75,540,572 (GRCm39) V233A probably damaging Het
Tpp2 C G 1: 44,014,628 (GRCm39) P656A possibly damaging Het
Ttc1 A T 11: 43,628,806 (GRCm39) L193Q probably damaging Het
Ttll4 T A 1: 74,735,632 (GRCm39) D1013E possibly damaging Het
Unc5a T C 13: 55,144,299 (GRCm39) V208A possibly damaging Het
Vmn1r185 C A 7: 26,310,558 (GRCm39) V316F probably benign Het
Vmn2r112 T A 17: 22,822,375 (GRCm39) V351E probably benign Het
Wdfy4 T A 14: 32,751,043 (GRCm39) K2391* probably null Het
Zfhx3 T C 8: 109,677,854 (GRCm39) V2968A possibly damaging Het
Zfp551 G A 7: 12,152,487 (GRCm39) A82V possibly damaging Het
Other mutations in Actrt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01778:Actrt2 APN 4 154,751,162 (GRCm39) missense probably benign 0.01
IGL02323:Actrt2 APN 4 154,751,255 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- GGTCTCAAACATCATCTCTGCC -3'
(R):5'- TGCCGCAGACATGTTTAACCC -3'

Sequencing Primer
(F):5'- TCGCGATTCTCCCTGGG -3'
(R):5'- GCAGACATGTTTAACCCACTGG -3'
Posted On 2020-01-23