Incidental Mutation 'IGL01778:Actrt2'
ID153767
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actrt2
Ensembl Gene ENSMUSG00000051276
Gene Nameactin-related protein T2
SynonymsArpm2, 1700052K15Rik, Arp-T2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.123) question?
Stock #IGL01778
Quality Score
Status
Chromosome4
Chromosomal Location154666433-154667867 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 154666705 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 325 (K325E)
Ref Sequence ENSEMBL: ENSMUSP00000050377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060062]
Predicted Effect probably benign
Transcript: ENSMUST00000060062
AA Change: K325E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000050377
Gene: ENSMUSG00000051276
AA Change: K325E

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arc C T 15: 74,672,355 M6I probably benign Het
Atp7b A T 8: 21,994,828 D1404E probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cdk5rap1 T A 2: 154,366,036 N156I probably damaging Het
Ctsa T C 2: 164,834,310 probably benign Het
Depdc1b T G 13: 108,362,327 N181K probably benign Het
Epg5 T C 18: 78,019,274 V1994A probably damaging Het
Epyc T A 10: 97,681,237 C312* probably null Het
Erv3 T A 2: 131,855,957 R161* probably null Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gfra3 T C 18: 34,691,591 T280A possibly damaging Het
Gldn A T 9: 54,334,492 probably null Het
Gm6768 T C 12: 119,262,496 noncoding transcript Het
Gtf3c4 G A 2: 28,835,088 R211C probably damaging Het
Hsh2d A G 8: 72,193,507 D16G probably damaging Het
Klk15 T A 7: 43,938,838 M190K probably damaging Het
Klri1 A G 6: 129,717,047 S26P possibly damaging Het
Krt78 T A 15: 101,950,967 D265V probably damaging Het
Lgr5 A C 10: 115,462,702 I355S probably damaging Het
Lig3 T A 11: 82,794,541 V595D probably damaging Het
Map2k6 A C 11: 110,512,869 probably benign Het
Mdm4 A G 1: 132,994,547 S286P probably benign Het
Olfr320 A G 11: 58,684,269 Y132C probably damaging Het
Pofut1 T A 2: 153,248,528 M114K probably damaging Het
Rdh13 C T 7: 4,430,389 probably null Het
Reg3g T A 6: 78,466,833 I131F probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc8a2 T A 7: 16,158,893 F827I probably damaging Het
Slfn9 A T 11: 82,987,374 C310S probably damaging Het
Sypl A G 12: 32,975,642 Y235C probably damaging Het
Trav7-4 A T 14: 53,461,641 T82S possibly damaging Het
Trim28 T A 7: 13,030,702 V782D probably damaging Het
Ttn G A 2: 76,744,898 T25217M probably damaging Het
Usp6nl A G 2: 6,427,570 T260A possibly damaging Het
Vmn2r54 A T 7: 12,632,082 N308K probably benign Het
Xdh T C 17: 73,900,280 E986G probably benign Het
Zfp770 T C 2: 114,196,238 D450G probably damaging Het
Zw10 T G 9: 49,069,615 S438R probably benign Het
Other mutations in Actrt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02323:Actrt2 APN 4 154666798 missense probably benign 0.00
R0526:Actrt2 UTSW 4 154667412 missense probably damaging 1.00
R1567:Actrt2 UTSW 4 154666914 missense possibly damaging 0.55
R2120:Actrt2 UTSW 4 154667094 missense probably benign 0.01
R4322:Actrt2 UTSW 4 154667244 missense probably damaging 0.99
R4623:Actrt2 UTSW 4 154667290 missense probably benign
R4824:Actrt2 UTSW 4 154666887 missense probably damaging 1.00
R5253:Actrt2 UTSW 4 154667569 missense possibly damaging 0.45
R5880:Actrt2 UTSW 4 154667290 missense probably benign
R6026:Actrt2 UTSW 4 154666590 missense possibly damaging 0.83
R6763:Actrt2 UTSW 4 154667379 missense probably damaging 0.96
R7247:Actrt2 UTSW 4 154667423 missense probably benign 0.32
R7502:Actrt2 UTSW 4 154666926 missense probably benign
R7896:Actrt2 UTSW 4 154667195 missense probably benign 0.00
R8032:Actrt2 UTSW 4 154667498 missense probably benign 0.01
R8108:Actrt2 UTSW 4 154667036 missense probably benign 0.01
Z1176:Actrt2 UTSW 4 154666832 missense probably benign 0.01
Posted On2014-02-04