Incidental Mutation 'R9302:Aar2'
ID 704990
Institutional Source Beutler Lab
Gene Symbol Aar2
Ensembl Gene ENSMUSG00000027628
Gene Name AAR2 splicing factor homolog
Synonyms 0610011L14Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.240) question?
Stock # R9302 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 156389504-156410892 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 156392956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 115 (L115P)
Ref Sequence ENSEMBL: ENSMUSP00000029158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029158] [ENSMUST00000109570] [ENSMUST00000126250] [ENSMUST00000150212]
AlphaFold Q9D2V5
Predicted Effect probably damaging
Transcript: ENSMUST00000029158
AA Change: L115P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029158
Gene: ENSMUSG00000027628
AA Change: L115P

DomainStartEndE-ValueType
Pfam:AAR2 6 367 4.5e-100 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109570
AA Change: L115P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105198
Gene: ENSMUSG00000027628
AA Change: L115P

DomainStartEndE-ValueType
Pfam:AAR2 17 364 3.8e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126250
Predicted Effect probably damaging
Transcript: ENSMUST00000150212
AA Change: L115P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118090
Gene: ENSMUSG00000027628
AA Change: L115P

DomainStartEndE-ValueType
Pfam:AAR2 6 124 3.2e-34 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T A 8: 46,983,470 (GRCm39) D494E probably damaging Het
Adgrl1 T C 8: 84,656,426 (GRCm39) V243A possibly damaging Het
Ak9 A T 10: 41,196,486 (GRCm39) I103F Het
Ank3 C T 10: 69,761,849 (GRCm39) probably benign Het
Ano4 T A 10: 88,831,220 (GRCm39) I468L probably benign Het
Anxa2r1 A G 13: 120,496,626 (GRCm39) I81T probably benign Het
Arhgef10l G A 4: 140,242,548 (GRCm39) S959L probably benign Het
Cdh23 G A 10: 60,143,306 (GRCm39) A3005V possibly damaging Het
Cfap221 T C 1: 119,853,365 (GRCm39) I776M probably benign Het
Col3a1 C T 1: 45,350,980 (GRCm39) Q25* probably null Het
Crabp2 C A 3: 87,859,833 (GRCm39) L100I probably benign Het
Dnah5 A G 15: 28,240,032 (GRCm39) D463G probably benign Het
Dst T C 1: 34,264,636 (GRCm39) L2602P probably damaging Het
Dusp1 A G 17: 26,726,148 (GRCm39) Y182H probably damaging Het
Fhip1a C A 3: 85,579,941 (GRCm39) D755Y probably damaging Het
Fras1 T A 5: 96,682,751 (GRCm39) C83S probably damaging Het
Frrs1 G T 3: 116,692,899 (GRCm39) probably null Het
Gcnt3 A G 9: 69,942,529 (GRCm39) L13P possibly damaging Het
Gm8094 T C 14: 42,932,834 (GRCm39) D88G probably benign Het
Hfe C T 13: 23,890,025 (GRCm39) M249I probably benign Het
Hipk1 T C 3: 103,685,099 (GRCm39) E172G probably benign Het
Iws1 G A 18: 32,213,213 (GRCm39) E214K possibly damaging Het
Ltb4r2 A T 14: 55,999,733 (GRCm39) Q118L probably damaging Het
Ltbp4 A T 7: 27,008,481 (GRCm39) C1342S possibly damaging Het
Lyst A G 13: 13,904,947 (GRCm39) D3208G possibly damaging Het
Mbnl2 A G 14: 120,622,950 (GRCm39) T163A probably benign Het
Mre11a T A 9: 14,696,826 (GRCm39) probably null Het
Myo15b A G 11: 115,776,238 (GRCm39) N610D possibly damaging Het
Nt5c1b T C 12: 10,430,882 (GRCm39) S390P probably damaging Het
Or10ag53 T A 2: 87,082,906 (GRCm39) F208L probably benign Het
Pde3b A G 7: 114,122,621 (GRCm39) T730A probably damaging Het
Pdzd2 G T 15: 12,374,342 (GRCm39) T1931N possibly damaging Het
Pla2g15 C T 8: 106,877,201 (GRCm39) A28V probably benign Het
Pmfbp1 A T 8: 110,268,474 (GRCm39) D1007V probably damaging Het
Polr1a T A 6: 71,901,683 (GRCm39) probably null Het
Ppp1r3a T C 6: 14,721,891 (GRCm39) K312E probably benign Het
Prmt5 G A 14: 54,749,583 (GRCm39) T269I probably benign Het
Pwp2 A G 10: 78,009,540 (GRCm39) S793P probably benign Het
Rbm12b1 C A 4: 12,146,181 (GRCm39) H718N probably benign Het
Rfx1 T A 8: 84,817,662 (GRCm39) M512K possibly damaging Het
Rp1 T C 1: 4,416,789 (GRCm39) E1441G probably damaging Het
Slc16a6 C T 11: 109,350,634 (GRCm39) V207I probably benign Het
Slc6a9 G A 4: 117,706,596 (GRCm39) R7H possibly damaging Het
Sptlc1 A T 13: 53,528,047 (GRCm39) V39D probably benign Het
Strc A T 2: 121,211,336 (GRCm39) L3Q unknown Het
Svep1 C T 4: 58,120,565 (GRCm39) E823K possibly damaging Het
Tat A G 8: 110,725,031 (GRCm39) probably benign Het
Thoc1 T A 18: 9,968,800 (GRCm39) N190K possibly damaging Het
Tomt T C 7: 101,549,826 (GRCm39) E154G probably damaging Het
Topaz1 T A 9: 122,617,887 (GRCm39) V1228E possibly damaging Het
Trim55 G A 3: 19,727,153 (GRCm39) V407M probably benign Het
Ttll5 T A 12: 85,873,338 (GRCm39) M5K possibly damaging Het
Ugt2a2 A C 5: 87,609,940 (GRCm39) Y380* probably null Het
Usp46 A G 5: 74,163,922 (GRCm39) Y272H probably benign Het
Vps39 A T 2: 120,151,525 (GRCm39) probably benign Het
Zfp12 T A 5: 143,230,421 (GRCm39) H281Q probably damaging Het
Zfp142 C A 1: 74,606,302 (GRCm39) R1756L probably damaging Het
Zmynd10 T A 9: 107,426,516 (GRCm39) I183K possibly damaging Het
Other mutations in Aar2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0238:Aar2 UTSW 2 156,392,893 (GRCm39) missense probably benign
R0238:Aar2 UTSW 2 156,392,893 (GRCm39) missense probably benign
R0709:Aar2 UTSW 2 156,408,930 (GRCm39) missense probably damaging 1.00
R4238:Aar2 UTSW 2 156,393,064 (GRCm39) missense possibly damaging 0.85
R7421:Aar2 UTSW 2 156,397,915 (GRCm39) missense possibly damaging 0.71
R7806:Aar2 UTSW 2 156,393,031 (GRCm39) missense possibly damaging 0.87
R8017:Aar2 UTSW 2 156,397,876 (GRCm39) missense probably benign
R8525:Aar2 UTSW 2 156,397,837 (GRCm39) missense probably benign 0.00
R9339:Aar2 UTSW 2 156,392,893 (GRCm39) missense probably benign
R9729:Aar2 UTSW 2 156,393,361 (GRCm39) missense probably benign 0.02
R9789:Aar2 UTSW 2 156,392,745 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTACAGCTCTGTGGACAAGG -3'
(R):5'- TAGGCCCTCTTGGTAGCTTCTG -3'

Sequencing Primer
(F):5'- TCTGTGGACAAGGCCAATC -3'
(R):5'- GGTAGCTTCTGCACTCGG -3'
Posted On 2022-03-25