Incidental Mutation 'R8080:Arb2a'
ID 629303
Institutional Source Beutler Lab
Gene Symbol Arb2a
Ensembl Gene ENSMUSG00000064138
Gene Name ARB2 cotranscriptional regulator A
Synonyms 53-E6, 1110033M05Rik, 9430037D06Rik, Fam172a, 2610318O14Rik, pEN87
MMRRC Submission 067513-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # R8080 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 77856799-78314359 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78154565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 316 (L316Q)
Ref Sequence ENSEMBL: ENSMUSP00000089038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091459] [ENSMUST00000099358] [ENSMUST00000163257] [ENSMUST00000224217]
AlphaFold Q3TNH5
Predicted Effect probably damaging
Transcript: ENSMUST00000091459
AA Change: L316Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089038
Gene: ENSMUSG00000064138
AA Change: L316Q

DomainStartEndE-ValueType
Pfam:Arb2 30 178 7.8e-38 PFAM
SCOP:d1imja_ 224 295 2e-3 SMART
low complexity region 341 354 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000099358
AA Change: L252Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096960
Gene: ENSMUSG00000064138
AA Change: L252Q

DomainStartEndE-ValueType
SCOP:d1imja_ 160 231 2e-3 SMART
low complexity region 277 290 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163257
AA Change: L362Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133140
Gene: ENSMUSG00000064138
AA Change: L362Q

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Arb2 78 228 3.5e-44 PFAM
SCOP:d1imja_ 270 341 2e-3 SMART
low complexity region 387 400 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224217
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 94.9%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aloxe3 A G 11: 69,023,900 (GRCm39) Q277R probably damaging Het
Anapc5 T C 5: 122,945,401 (GRCm39) N226D probably damaging Het
Bcl2l11 T C 2: 127,970,586 (GRCm39) C12R probably damaging Het
Bpnt1 A G 1: 185,084,406 (GRCm39) T168A probably damaging Het
Brca2 A T 5: 150,463,357 (GRCm39) E1040D probably benign Het
Cdca2 G A 14: 67,915,004 (GRCm39) Q752* probably null Het
Cntn2 T C 1: 132,449,536 (GRCm39) D635G probably damaging Het
Cntnap5b A T 1: 99,999,928 (GRCm39) I229F probably benign Het
Ctr9 G A 7: 110,650,774 (GRCm39) E900K possibly damaging Het
Dmbt1 A G 7: 130,690,500 (GRCm39) Y911C unknown Het
Egflam T A 15: 7,427,561 (GRCm39) D2V probably benign Het
Enpep A T 3: 129,092,783 (GRCm39) N505K probably damaging Het
Fam13a A G 6: 58,933,790 (GRCm39) S267P probably damaging Het
Fancc G T 13: 63,550,837 (GRCm39) T12K Het
Fbxo3 A G 2: 103,864,012 (GRCm39) Y89C probably damaging Het
Garem2 A G 5: 30,313,385 (GRCm39) Y83C probably damaging Het
Gm17079 T C 14: 51,930,480 (GRCm39) T122A Het
Gm3696 A T 14: 18,435,071 (GRCm39) L71* probably null Het
Gm4559 C T 7: 141,827,553 (GRCm39) R183K unknown Het
Gmip A T 8: 70,268,736 (GRCm39) T454S possibly damaging Het
Helz2 T A 2: 180,880,055 (GRCm39) T554S probably damaging Het
Hoxc9 C T 15: 102,890,551 (GRCm39) T156M probably benign Het
Hrc A G 7: 44,986,262 (GRCm39) E471G probably damaging Het
Hydin A G 8: 111,261,863 (GRCm39) I2655V probably benign Het
Ighv1-64 T C 12: 115,471,463 (GRCm39) H18R probably benign Het
Jcad A G 18: 4,649,270 (GRCm39) Y47C probably benign Het
Jmjd4 A G 11: 59,341,179 (GRCm39) T37A probably benign Het
Kalrn C T 16: 33,796,038 (GRCm39) G2915S possibly damaging Het
Kdm5d T C Y: 910,742 (GRCm39) F285L probably benign Het
Lmna A G 3: 88,393,868 (GRCm39) F237L probably damaging Het
Med12l A G 3: 59,172,607 (GRCm39) K1788E probably damaging Het
Mrgprb1 T C 7: 48,096,658 (GRCm39) probably null Het
Myh1 T A 11: 67,102,228 (GRCm39) Y840N probably benign Het
Negr1 C A 3: 156,866,357 (GRCm39) A302E probably damaging Het
Nup188 T C 2: 30,227,045 (GRCm39) V1206A possibly damaging Het
Nup205 T C 6: 35,204,311 (GRCm39) L1399P probably damaging Het
Or13a20 T C 7: 140,232,387 (GRCm39) M165T probably benign Het
Or4a81 T A 2: 89,618,971 (GRCm39) I242F possibly damaging Het
Or5v1b G A 17: 37,841,555 (GRCm39) R229H probably benign Het
Or6c69b T C 10: 129,626,997 (GRCm39) I154V probably benign Het
Or8c14-ps1 T C 9: 38,101,885 (GRCm39) L288S unknown Het
Pcdhb4 A G 18: 37,442,349 (GRCm39) D553G probably benign Het
Phip A G 9: 82,769,662 (GRCm39) L1147P probably damaging Het
Phlpp1 A G 1: 106,320,706 (GRCm39) D1567G probably benign Het
Pigz T C 16: 31,760,858 (GRCm39) C20R probably damaging Het
Plpp1 A G 13: 113,004,002 (GRCm39) K252R probably benign Het
Polr2a A T 11: 69,625,874 (GRCm39) S1759T unknown Het
Rbm42 G T 7: 30,345,136 (GRCm39) P212T unknown Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Slc35e1 G A 8: 73,246,030 (GRCm39) P134L Het
Slc9a3 A C 13: 74,314,146 (GRCm39) Q818P probably benign Het
St3gal4 T C 9: 35,017,617 (GRCm39) probably null Het
Stard3nl G T 13: 19,554,521 (GRCm39) A151E probably damaging Het
Syt9 T A 7: 107,035,997 (GRCm39) I338N probably benign Het
Ticrr A T 7: 79,334,012 (GRCm39) probably null Het
Tlr4 T A 4: 66,757,713 (GRCm39) Y169N probably damaging Het
Tnc A C 4: 63,894,706 (GRCm39) I1560S possibly damaging Het
Usp7 C A 16: 8,515,771 (GRCm39) D644Y probably benign Het
Utp20 A G 10: 88,618,577 (GRCm39) I1141T possibly damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r60 A G 7: 41,790,521 (GRCm39) M503V probably benign Het
Zfp384 T C 6: 125,013,521 (GRCm39) S530P unknown Het
Zfp600 T A 4: 146,133,182 (GRCm39) C617S unknown Het
Zfp819 A G 7: 43,267,148 (GRCm39) R544G probably damaging Het
Other mutations in Arb2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Arb2a APN 13 78,100,094 (GRCm39) splice site probably benign
IGL01455:Arb2a APN 13 78,050,766 (GRCm39) splice site probably benign
IGL01534:Arb2a APN 13 78,147,830 (GRCm39) splice site probably benign
IGL01812:Arb2a APN 13 77,909,966 (GRCm39) nonsense probably null
R0107:Arb2a UTSW 13 78,050,933 (GRCm39) missense probably damaging 0.98
R0329:Arb2a UTSW 13 77,910,070 (GRCm39) intron probably benign
R0455:Arb2a UTSW 13 77,982,832 (GRCm39) splice site probably benign
R1112:Arb2a UTSW 13 77,910,005 (GRCm39) missense probably damaging 1.00
R1434:Arb2a UTSW 13 77,910,041 (GRCm39) missense probably damaging 1.00
R1547:Arb2a UTSW 13 77,973,509 (GRCm39) critical splice donor site probably null
R1667:Arb2a UTSW 13 77,907,635 (GRCm39) start codon destroyed probably null 0.04
R1961:Arb2a UTSW 13 78,050,839 (GRCm39) missense probably benign 0.24
R2018:Arb2a UTSW 13 78,147,756 (GRCm39) missense possibly damaging 0.49
R5878:Arb2a UTSW 13 78,100,186 (GRCm39) missense probably damaging 1.00
R7230:Arb2a UTSW 13 77,907,591 (GRCm39) missense probably damaging 1.00
R7449:Arb2a UTSW 13 77,907,561 (GRCm39) missense probably damaging 1.00
R7867:Arb2a UTSW 13 78,050,837 (GRCm39) missense probably benign
R8839:Arb2a UTSW 13 78,147,781 (GRCm39) missense probably benign 0.11
R8895:Arb2a UTSW 13 78,147,773 (GRCm39) missense probably damaging 0.99
R9094:Arb2a UTSW 13 78,311,725 (GRCm39) missense possibly damaging 0.90
RF003:Arb2a UTSW 13 77,982,794 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- CAGGCCAGAGTTGAAGCCTTTAC -3'
(R):5'- TCATCTCCCTAAGCTCCAAGAG -3'

Sequencing Primer
(F):5'- CCAGAGTTGAAGCCTTTACATCTAAC -3'
(R):5'- ATTCTTGGCATGTTTGTTGATAAGC -3'
Posted On 2020-06-30