Incidental Mutation 'R9000:Actr5'
ID 684898
Institutional Source Beutler Lab
Gene Symbol Actr5
Ensembl Gene ENSMUSG00000037761
Gene Name ARP5 actin-related protein 5
Synonyms B430109J19Rik
MMRRC Submission 068831-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9000 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 158466808-158481131 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 158478610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 487 (T487S)
Ref Sequence ENSEMBL: ENSMUSP00000046658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045644] [ENSMUST00000183731]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000045644
AA Change: T487S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000046658
Gene: ENSMUSG00000037761
AA Change: T487S

DomainStartEndE-ValueType
ACTIN 30 571 1.15e-36 SMART
low complexity region 593 605 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183731
SMART Domains Protein: ENSMUSP00000139110
Gene: ENSMUSG00000037761

DomainStartEndE-ValueType
ACTIN 30 399 3.1e-8 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 90% (55/61)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,353,195 (GRCm39) N749S probably damaging Het
Acsl5 T C 19: 55,283,943 (GRCm39) *684Q probably null Het
Adam18 T A 8: 25,127,162 (GRCm39) H478L probably benign Het
Adam5 A T 8: 25,294,372 (GRCm39) probably null Het
Adamts3 T C 5: 89,854,570 (GRCm39) N475S probably benign Het
Akap9 G A 5: 4,105,650 (GRCm39) R2907H probably benign Het
Anapc1 A G 2: 128,476,628 (GRCm39) V1330A probably damaging Het
Arhgef37 A T 18: 61,637,333 (GRCm39) M443K possibly damaging Het
Atp13a1 T A 8: 70,254,725 (GRCm39) H753Q probably damaging Het
C2cd3 A G 7: 100,065,281 (GRCm39) H311R Het
Cdh23 A G 10: 60,140,277 (GRCm39) Y3222H possibly damaging Het
Ces2f A G 8: 105,677,661 (GRCm39) D222G probably benign Het
Cnot9 C T 1: 74,561,544 (GRCm39) R130C probably benign Het
Cntnap2 G A 6: 46,461,139 (GRCm39) probably benign Het
Daam2 A G 17: 49,769,197 (GRCm39) L932P probably damaging Het
Dgki T C 6: 37,074,643 (GRCm39) probably benign Het
Dync1h1 A C 12: 110,606,397 (GRCm39) Q2489P probably benign Het
Elovl2 A G 13: 41,338,810 (GRCm39) L280S probably benign Het
Fat1 C A 8: 45,497,587 (GRCm39) Y4357* probably null Het
Fat3 T A 9: 15,871,816 (GRCm39) Q3525L possibly damaging Het
Fat3 T C 9: 15,918,095 (GRCm39) I1443V probably benign Het
Fzd1 A G 5: 4,806,211 (GRCm39) I457T probably damaging Het
Kcnq5 G T 1: 21,557,483 (GRCm39) F332L probably damaging Het
Meiob A G 17: 25,047,916 (GRCm39) probably benign Het
Mrgprb4 A G 7: 47,848,769 (GRCm39) L53P probably damaging Het
Myt1l G A 12: 29,901,740 (GRCm39) V832I unknown Het
Nckap5l G A 15: 99,321,310 (GRCm39) P1186S probably damaging Het
Ndufa4l2 A T 10: 127,350,898 (GRCm39) R16S probably benign Het
Nrg2 T C 18: 36,151,682 (GRCm39) Y620C probably damaging Het
Or4p4b-ps1 T A 2: 88,454,525 (GRCm39) *293R probably null Het
Or52a24 T C 7: 103,381,672 (GRCm39) S180P probably damaging Het
Pip4k2a T G 2: 18,877,240 (GRCm39) Y165S possibly damaging Het
Plcd4 T A 1: 74,601,024 (GRCm39) C500* probably null Het
Plcl1 C T 1: 55,736,990 (GRCm39) P777L probably damaging Het
Pnliprp2 T C 19: 58,762,555 (GRCm39) Y387H probably benign Het
Prdm15 A T 16: 97,595,470 (GRCm39) D1119E probably benign Het
Prss51 T C 14: 64,332,420 (GRCm39) S36P possibly damaging Het
Prune1 A G 3: 95,162,635 (GRCm39) V346A probably benign Het
Saxo5 T C 8: 3,526,083 (GRCm39) S79P possibly damaging Het
Scn5a T C 9: 119,321,171 (GRCm39) T1464A possibly damaging Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Sh2b1 GGGG GGGGCCCAGCTCAGCCACAGGG 7: 126,066,743 (GRCm39) probably benign Het
Sim1 T G 10: 50,860,316 (GRCm39) I726S probably benign Het
Sim1 T G 10: 50,860,317 (GRCm39) I726M possibly damaging Het
Slc38a4 G A 15: 96,897,475 (GRCm39) P447S possibly damaging Het
Slc5a12 A G 2: 110,454,525 (GRCm39) E362G probably damaging Het
Slc5a8 C A 10: 88,762,089 (GRCm39) N576K probably benign Het
Slc5a8 T A 10: 88,762,090 (GRCm39) Y577N probably benign Het
Snn A G 16: 10,890,322 (GRCm39) E47G probably damaging Het
Snx19 T C 9: 30,375,619 (GRCm39) V207A unknown Het
Srcap G A 7: 127,130,943 (GRCm39) V720I possibly damaging Het
Syn3 T A 10: 85,893,489 (GRCm39) R451S unknown Het
Tdrp A G 8: 14,003,989 (GRCm39) V116A probably benign Het
Tef G A 15: 81,695,773 (GRCm39) M1I probably null Het
Vmn1r232 T C 17: 21,134,111 (GRCm39) K163R probably damaging Het
Wrnip1 A G 13: 32,986,711 (GRCm39) E164G probably damaging Het
Zcchc14 T G 8: 122,336,880 (GRCm39) H178P unknown Het
Zfp37 T G 4: 62,126,651 (GRCm39) K69T unknown Het
Zfp947 A G 17: 22,365,161 (GRCm39) L171P probably benign Het
Other mutations in Actr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01609:Actr5 APN 2 158,478,722 (GRCm39) critical splice donor site probably null
IGL02622:Actr5 APN 2 158,480,728 (GRCm39) missense probably benign 0.03
IGL02707:Actr5 APN 2 158,478,617 (GRCm39) missense probably benign 0.45
R0610:Actr5 UTSW 2 158,474,376 (GRCm39) critical splice donor site probably null
R1467:Actr5 UTSW 2 158,480,617 (GRCm39) missense probably benign 0.02
R1467:Actr5 UTSW 2 158,480,617 (GRCm39) missense probably benign 0.02
R1720:Actr5 UTSW 2 158,478,057 (GRCm39) missense possibly damaging 0.93
R1869:Actr5 UTSW 2 158,480,643 (GRCm39) missense probably damaging 0.99
R1937:Actr5 UTSW 2 158,477,949 (GRCm39) missense possibly damaging 0.63
R2051:Actr5 UTSW 2 158,474,213 (GRCm39) missense probably benign 0.00
R2389:Actr5 UTSW 2 158,467,132 (GRCm39) missense probably benign
R2420:Actr5 UTSW 2 158,478,001 (GRCm39) missense probably damaging 1.00
R2422:Actr5 UTSW 2 158,478,001 (GRCm39) missense probably damaging 1.00
R2909:Actr5 UTSW 2 158,467,140 (GRCm39) missense possibly damaging 0.52
R4089:Actr5 UTSW 2 158,467,022 (GRCm39) utr 5 prime probably benign
R4719:Actr5 UTSW 2 158,468,433 (GRCm39) missense probably damaging 0.97
R4737:Actr5 UTSW 2 158,469,991 (GRCm39) missense probably damaging 1.00
R4820:Actr5 UTSW 2 158,467,426 (GRCm39) missense probably damaging 1.00
R5010:Actr5 UTSW 2 158,477,283 (GRCm39) missense probably benign 0.00
R5341:Actr5 UTSW 2 158,467,144 (GRCm39) nonsense probably null
R5457:Actr5 UTSW 2 158,477,918 (GRCm39) splice site probably null
R6328:Actr5 UTSW 2 158,477,264 (GRCm39) missense possibly damaging 0.72
R7158:Actr5 UTSW 2 158,468,334 (GRCm39) missense possibly damaging 0.95
R8526:Actr5 UTSW 2 158,474,224 (GRCm39) missense probably damaging 1.00
R8789:Actr5 UTSW 2 158,478,604 (GRCm39) nonsense probably null
R9030:Actr5 UTSW 2 158,474,321 (GRCm39) missense probably benign 0.00
R9222:Actr5 UTSW 2 158,473,423 (GRCm39) missense probably damaging 0.98
R9316:Actr5 UTSW 2 158,477,274 (GRCm39) missense probably benign 0.00
R9563:Actr5 UTSW 2 158,470,135 (GRCm39) missense probably damaging 1.00
R9564:Actr5 UTSW 2 158,470,135 (GRCm39) missense probably damaging 1.00
R9565:Actr5 UTSW 2 158,470,135 (GRCm39) missense probably damaging 1.00
R9588:Actr5 UTSW 2 158,468,328 (GRCm39) missense possibly damaging 0.94
Z1177:Actr5 UTSW 2 158,478,625 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GAATGCACACTTGGCCTATAGTATG -3'
(R):5'- ACCTCTGCAGTGGATGATGG -3'

Sequencing Primer
(F):5'- CACACTTGGCCTATAGTATGGAGTTG -3'
(R):5'- GGATTGCAGAGTCCAGTCTTTACAC -3'
Posted On 2021-10-11