Incidental Mutation 'R4582:Abra'
ID 343756
Institutional Source Beutler Lab
Gene Symbol Abra
Ensembl Gene ENSMUSG00000042895
Gene Name actin-binding Rho activating protein
Synonyms C130068O12Rik, STARS
MMRRC Submission 041803-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.311) question?
Stock # R4582 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 41728689-41733116 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41732681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 128 (D128E)
Ref Sequence ENSEMBL: ENSMUSP00000051973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054742]
AlphaFold Q8BUZ1
Predicted Effect probably benign
Transcript: ENSMUST00000054742
AA Change: D128E

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000051973
Gene: ENSMUSG00000042895
AA Change: D128E

DomainStartEndE-ValueType
Costars 298 374 6.22e-45 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired arteriogenesis following occlusion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A T 14: 78,749,369 (GRCm39) V1006E possibly damaging Het
Ankrd7 T A 6: 18,868,020 (GRCm39) N95K probably damaging Het
Brd9 T C 13: 74,095,852 (GRCm39) F366L probably benign Het
Brinp2 A G 1: 158,095,508 (GRCm39) F118L probably damaging Het
Ccdc138 T C 10: 58,343,465 (GRCm39) probably null Het
Celsr3 T C 9: 108,722,922 (GRCm39) F189L probably damaging Het
Cfap45 A G 1: 172,357,479 (GRCm39) T36A probably benign Het
Clec4a1 G T 6: 122,909,150 (GRCm39) V173L possibly damaging Het
Col6a5 G A 9: 105,739,963 (GRCm39) T2552I probably benign Het
Dcaf15 A G 8: 84,824,598 (GRCm39) V533A probably damaging Het
Dhrs9 A T 2: 69,227,997 (GRCm39) I204F probably damaging Het
Dock7 A G 4: 98,892,153 (GRCm39) V811A possibly damaging Het
Eef1akmt1 T C 14: 57,787,905 (GRCm39) D151G probably damaging Het
Eif4g3 G A 4: 137,898,556 (GRCm39) R1109H probably damaging Het
Gtpbp10 T C 5: 5,592,395 (GRCm39) T191A possibly damaging Het
Hectd4 A G 5: 121,424,482 (GRCm39) N714S possibly damaging Het
Lima1 T C 15: 99,678,873 (GRCm39) T523A possibly damaging Het
Lipe A G 7: 25,097,127 (GRCm39) L272P probably benign Het
Llgl2 A G 11: 115,741,532 (GRCm39) E554G possibly damaging Het
Lrrc66 T C 5: 73,765,580 (GRCm39) S488G possibly damaging Het
Man2a1 C T 17: 65,059,494 (GRCm39) A1127V probably benign Het
Naglu A T 11: 100,962,755 (GRCm39) I187F probably damaging Het
Nt5c1b T A 12: 10,440,054 (GRCm39) M548K probably damaging Het
Or10ak14 A T 4: 118,611,090 (GRCm39) I217N probably damaging Het
Or6c38 A T 10: 128,929,027 (GRCm39) V272E possibly damaging Het
Pcdha3 T C 18: 37,080,485 (GRCm39) V409A probably benign Het
Pde6b A T 5: 108,573,097 (GRCm39) probably null Het
Pkd2 A T 5: 104,650,210 (GRCm39) K857* probably null Het
Rfx4 T A 10: 84,680,164 (GRCm39) S114T possibly damaging Het
Sacs G A 14: 61,429,147 (GRCm39) G402D probably damaging Het
Slc22a5 C T 11: 53,782,035 (GRCm39) E111K probably damaging Het
Sptbn1 G A 11: 30,169,597 (GRCm39) R44C probably damaging Het
Taf1 T C X: 100,637,601 (GRCm39) V1696A possibly damaging Het
Tm9sf3 C A 19: 41,244,605 (GRCm39) G91C probably damaging Het
Tmie T G 9: 110,702,865 (GRCm39) E32A probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Tsga13 A T 6: 30,879,298 (GRCm39) N138K probably benign Het
Ttc7b G A 12: 100,466,376 (GRCm39) R79C probably damaging Het
Ugt1a10 A T 1: 87,983,463 (GRCm39) D87V possibly damaging Het
Vdac3-ps1 A T 13: 18,206,177 (GRCm39) noncoding transcript Het
Vmn1r29 A C 6: 58,285,017 (GRCm39) I246L probably damaging Het
Zbtb16 A G 9: 48,743,382 (GRCm39) V310A probably benign Het
Other mutations in Abra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01512:Abra APN 15 41,729,413 (GRCm39) missense probably damaging 0.99
IGL02022:Abra APN 15 41,732,802 (GRCm39) missense probably benign
IGL02370:Abra APN 15 41,732,640 (GRCm39) missense probably damaging 1.00
IGL02406:Abra APN 15 41,732,583 (GRCm39) missense probably damaging 1.00
R1860:Abra UTSW 15 41,732,430 (GRCm39) missense probably damaging 1.00
R1861:Abra UTSW 15 41,732,430 (GRCm39) missense probably damaging 1.00
R2385:Abra UTSW 15 41,732,749 (GRCm39) missense probably damaging 0.97
R3718:Abra UTSW 15 41,729,689 (GRCm39) missense probably benign
R4621:Abra UTSW 15 41,732,620 (GRCm39) missense probably benign 0.10
R4724:Abra UTSW 15 41,729,302 (GRCm39) missense probably damaging 1.00
R5926:Abra UTSW 15 41,729,650 (GRCm39) missense probably damaging 1.00
R6417:Abra UTSW 15 41,729,452 (GRCm39) missense probably benign 0.01
R6649:Abra UTSW 15 41,732,629 (GRCm39) missense probably benign
R7348:Abra UTSW 15 41,729,555 (GRCm39) missense probably damaging 1.00
R7487:Abra UTSW 15 41,732,949 (GRCm39) missense probably damaging 1.00
R7997:Abra UTSW 15 41,729,593 (GRCm39) missense probably damaging 1.00
R8785:Abra UTSW 15 41,729,656 (GRCm39) missense probably damaging 0.99
R9171:Abra UTSW 15 41,732,512 (GRCm39) missense possibly damaging 0.92
RF053:Abra UTSW 15 41,729,695 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- CACTTACTGGGAGAGCAAGG -3'
(R):5'- AACGCTCCTAAAGAAGCCGG -3'

Sequencing Primer
(F):5'- ACAGGCGCTGCATCTTG -3'
(R):5'- GCTCCTAAAGAAGCCGGTCCTTAC -3'
Posted On 2015-09-24