Incidental Mutation 'R2097:Actr8'
ID 230333
Institutional Source Beutler Lab
Gene Symbol Actr8
Ensembl Gene ENSMUSG00000015971
Gene Name ARP8 actin-related protein 8
Synonyms ARP8, 5730542K05Rik
MMRRC Submission 040101-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2097 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 29700294-29717409 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29709185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 263 (V263A)
Ref Sequence ENSEMBL: ENSMUSP00000153076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016115] [ENSMUST00000224797] [ENSMUST00000225811]
AlphaFold Q8R2S9
Predicted Effect probably damaging
Transcript: ENSMUST00000016115
AA Change: V263A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000016115
Gene: ENSMUSG00000015971
AA Change: V263A

DomainStartEndE-ValueType
low complexity region 5 27 N/A INTRINSIC
ACTIN 46 621 3.34e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224067
Predicted Effect probably damaging
Transcript: ENSMUST00000224797
AA Change: V263A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225368
Predicted Effect probably benign
Transcript: ENSMUST00000225811
Meta Mutation Damage Score 0.6142 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol6 T A 15: 76,931,333 (GRCm39) probably null Het
Aqp3 C T 4: 41,098,004 (GRCm39) V36M possibly damaging Het
Bace1 G T 9: 45,771,520 (GRCm39) C478F probably benign Het
Bbof1 C A 12: 84,460,081 (GRCm39) A116D probably damaging Het
Casq1 A T 1: 172,037,988 (GRCm39) L381Q probably damaging Het
Ccdc138 T A 10: 58,397,759 (GRCm39) L533* probably null Het
Cdcp3 A T 7: 130,783,693 (GRCm39) R29* probably null Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Cntn6 A G 6: 104,838,910 (GRCm39) E988G probably damaging Het
Cts6 T A 13: 61,343,259 (GRCm39) N321Y probably damaging Het
Dnmt1 A G 9: 20,821,084 (GRCm39) S1269P probably benign Het
Dsg4 C A 18: 20,604,101 (GRCm39) P856H probably damaging Het
Fndc3a C A 14: 72,811,791 (GRCm39) probably null Het
Galc T C 12: 98,218,291 (GRCm39) D187G probably benign Het
Gfm1 T C 3: 67,357,079 (GRCm39) I384T probably damaging Het
Hacd2 A G 16: 34,869,090 (GRCm39) I92V probably benign Het
Hmcn2 T A 2: 31,270,431 (GRCm39) Y1223N probably damaging Het
Il20ra T C 10: 19,635,211 (GRCm39) I484T probably damaging Het
Map7 G T 10: 20,122,362 (GRCm39) V143F probably damaging Het
Mcm3ap T C 10: 76,348,323 (GRCm39) L1893P probably damaging Het
Msh6 A G 17: 88,292,844 (GRCm39) N533S probably benign Het
Nbea T C 3: 55,630,638 (GRCm39) D2233G probably damaging Het
Nlrp6 A T 7: 140,503,117 (GRCm39) T408S probably damaging Het
Notch3 A T 17: 32,341,728 (GRCm39) L2008Q probably damaging Het
Odad4 T A 11: 100,454,408 (GRCm39) F398I possibly damaging Het
Or52e19b T A 7: 103,032,840 (GRCm39) D123V probably damaging Het
Or8k20 A T 2: 86,106,383 (GRCm39) Y149* probably null Het
Pggt1b T C 18: 46,379,695 (GRCm39) N296D probably benign Het
Pglyrp3 T A 3: 91,935,478 (GRCm39) F243I possibly damaging Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptpdc1 T A 13: 48,746,135 (GRCm39) probably null Het
Ptprq T C 10: 107,489,354 (GRCm39) T924A probably benign Het
Pwp2 C A 10: 78,013,576 (GRCm39) probably benign Het
Slc7a4 G T 16: 17,391,319 (GRCm39) probably null Het
Tmem132b T A 5: 125,715,272 (GRCm39) I327K probably damaging Het
Trim9 T C 12: 70,393,933 (GRCm39) M4V probably damaging Het
Tspan13 T C 12: 36,071,829 (GRCm39) S128G probably benign Het
Zbtb20 A G 16: 43,429,882 (GRCm39) D131G probably null Het
Zeb2 A T 2: 44,887,168 (GRCm39) C615S probably damaging Het
Zfp777 C T 6: 48,021,176 (GRCm39) D149N probably benign Het
Zfp990 A G 4: 145,263,892 (GRCm39) K297E possibly damaging Het
Other mutations in Actr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01089:Actr8 APN 14 29,710,292 (GRCm39) missense probably damaging 1.00
IGL01449:Actr8 APN 14 29,712,927 (GRCm39) critical splice donor site probably null
IGL01577:Actr8 APN 14 29,709,232 (GRCm39) missense probably benign
IGL02118:Actr8 APN 14 29,704,728 (GRCm39) critical splice donor site probably null
IGL02647:Actr8 APN 14 29,712,847 (GRCm39) missense probably damaging 1.00
IGL02659:Actr8 APN 14 29,708,298 (GRCm39) missense probably damaging 1.00
IGL02696:Actr8 APN 14 29,704,628 (GRCm39) missense probably benign 0.33
IGL03015:Actr8 APN 14 29,708,273 (GRCm39) missense possibly damaging 0.81
IGL03335:Actr8 APN 14 29,700,514 (GRCm39) missense probably benign
R0512:Actr8 UTSW 14 29,700,513 (GRCm39) missense probably benign 0.00
R0735:Actr8 UTSW 14 29,711,669 (GRCm39) missense probably benign 0.02
R0926:Actr8 UTSW 14 29,709,181 (GRCm39) missense probably benign 0.02
R1443:Actr8 UTSW 14 29,706,056 (GRCm39) missense possibly damaging 0.73
R1470:Actr8 UTSW 14 29,708,926 (GRCm39) missense possibly damaging 0.90
R1470:Actr8 UTSW 14 29,708,926 (GRCm39) missense possibly damaging 0.90
R1616:Actr8 UTSW 14 29,704,601 (GRCm39) missense possibly damaging 0.53
R2240:Actr8 UTSW 14 29,711,714 (GRCm39) missense possibly damaging 0.94
R2570:Actr8 UTSW 14 29,709,239 (GRCm39) missense probably damaging 1.00
R5122:Actr8 UTSW 14 29,704,672 (GRCm39) missense possibly damaging 0.95
R5439:Actr8 UTSW 14 29,708,952 (GRCm39) missense probably damaging 1.00
R5697:Actr8 UTSW 14 29,713,630 (GRCm39) missense possibly damaging 0.73
R5727:Actr8 UTSW 14 29,712,838 (GRCm39) missense probably benign 0.01
R5860:Actr8 UTSW 14 29,708,242 (GRCm39) nonsense probably null
R5988:Actr8 UTSW 14 29,715,030 (GRCm39) missense possibly damaging 0.71
R6006:Actr8 UTSW 14 29,706,099 (GRCm39) critical splice donor site probably null
R6009:Actr8 UTSW 14 29,700,454 (GRCm39) unclassified probably benign
R6155:Actr8 UTSW 14 29,700,546 (GRCm39) critical splice donor site probably null
R6190:Actr8 UTSW 14 29,713,674 (GRCm39) nonsense probably null
R6329:Actr8 UTSW 14 29,715,041 (GRCm39) nonsense probably null
R6483:Actr8 UTSW 14 29,700,538 (GRCm39) missense possibly damaging 0.53
R6517:Actr8 UTSW 14 29,704,673 (GRCm39) nonsense probably null
R6562:Actr8 UTSW 14 29,708,411 (GRCm39) splice site probably null
R7484:Actr8 UTSW 14 29,714,925 (GRCm39) missense probably damaging 1.00
R8190:Actr8 UTSW 14 29,706,030 (GRCm39) missense possibly damaging 0.66
R8236:Actr8 UTSW 14 29,704,585 (GRCm39) missense probably damaging 1.00
R8516:Actr8 UTSW 14 29,712,856 (GRCm39) missense probably benign 0.17
R9484:Actr8 UTSW 14 29,708,301 (GRCm39) missense probably benign 0.19
Z1177:Actr8 UTSW 14 29,709,199 (GRCm39) missense probably damaging 0.99
Z1177:Actr8 UTSW 14 29,708,358 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCACTGAACGCACTGACTTAG -3'
(R):5'- AGAACTGACAGCCCAGTCTC -3'

Sequencing Primer
(F):5'- CGCACTGACTTAGTTACATGTG -3'
(R):5'- TTTCTGGCCGGTAGACAGAC -3'
Posted On 2014-09-18