Incidental Mutation 'R3718:Abra'
ID 258799
Institutional Source Beutler Lab
Gene Symbol Abra
Ensembl Gene ENSMUSG00000042895
Gene Name actin-binding Rho activating protein
Synonyms C130068O12Rik, STARS
MMRRC Submission 040710-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.311) question?
Stock # R3718 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 41728689-41733116 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41729689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 237 (D237G)
Ref Sequence ENSEMBL: ENSMUSP00000051973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054742]
AlphaFold Q8BUZ1
Predicted Effect probably benign
Transcript: ENSMUST00000054742
AA Change: D237G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000051973
Gene: ENSMUSG00000042895
AA Change: D237G

DomainStartEndE-ValueType
Costars 298 374 6.22e-45 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 97% (36/37)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alas2 T C X: 149,343,726 (GRCm39) probably benign Het
Ano6 A G 15: 95,811,260 (GRCm39) D120G probably damaging Het
Aspm T C 1: 139,408,627 (GRCm39) Y2505H probably benign Het
Aspm G A 1: 139,418,165 (GRCm39) V2965I probably benign Het
Ccna2 A T 3: 36,620,387 (GRCm39) V285E probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnajc10 A G 2: 80,155,089 (GRCm39) probably benign Het
Dpp3 A G 19: 4,973,093 (GRCm39) probably null Het
Gng11 G A 6: 4,008,078 (GRCm39) R47H probably benign Het
Hivep1 C T 13: 42,311,971 (GRCm39) H1404Y probably damaging Het
Il18r1 A G 1: 40,534,948 (GRCm39) E381G probably benign Het
Il9 G A 13: 56,627,264 (GRCm39) T116I probably damaging Het
Kcnh1 A G 1: 191,921,107 (GRCm39) T129A probably damaging Het
Mroh7 T C 4: 106,561,407 (GRCm39) E612G probably benign Het
Nav1 A T 1: 135,378,368 (GRCm39) I1653K probably damaging Het
Neb T C 2: 52,167,482 (GRCm39) E1948G probably damaging Het
Ntsr1 T C 2: 180,184,499 (GRCm39) F401L probably benign Het
Nup210 A T 6: 90,997,162 (GRCm39) D1626E probably benign Het
Or10q12 A G 19: 13,746,428 (GRCm39) R241G probably damaging Het
Or4k35 A G 2: 111,100,571 (GRCm39) V47A probably benign Het
Or8g26 A G 9: 39,096,361 (GRCm39) R293G probably damaging Het
Pign A G 1: 105,577,006 (GRCm39) probably null Het
Rad54l2 A G 9: 106,570,726 (GRCm39) V1198A probably benign Het
Sh3tc2 T C 18: 62,123,414 (GRCm39) V725A probably benign Het
Skint10 A T 4: 112,603,936 (GRCm39) W84R probably damaging Het
Slc40a1 G T 1: 45,950,151 (GRCm39) H434N probably benign Het
Trdv2-1 T C 14: 54,183,995 (GRCm39) Y76H probably benign Het
Trim43c T C 9: 88,727,030 (GRCm39) S286P probably benign Het
Ttn G A 2: 76,575,558 (GRCm39) P25112S probably damaging Het
Ubac1 C T 2: 25,904,953 (GRCm39) R95H probably damaging Het
Vps13d A G 4: 144,802,296 (GRCm39) I405T probably damaging Het
Zc3hav1l G T 6: 38,272,060 (GRCm39) S236R probably damaging 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
R4582:Abra UTSW 15 41,732,681 (GRCm39) missense probably benign 0.16
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'- ATAGATGTGCTCTTCCGCTC -3'
(R):5'- GCTTGAGTTTAATATCACTAGTGGC -3'

Sequencing Primer
(F):5'- GCTCGCTTGGCCCTTTCAG -3'
(R):5'- CAGAGACTACACATGGGA -3'
Posted On 2015-01-23