Incidental Mutation 'R4238:Aar2'
ID 321198
Institutional Source Beutler Lab
Gene Symbol Aar2
Ensembl Gene ENSMUSG00000027628
Gene Name AAR2 splicing factor homolog
Synonyms 0610011L14Rik
MMRRC Submission 041055-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.270) question?
Stock # R4238 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 156389504-156410892 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 156393064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 151 (E151G)
Ref Sequence ENSEMBL: ENSMUSP00000105198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029158] [ENSMUST00000109570] [ENSMUST00000126250] [ENSMUST00000150212]
AlphaFold Q9D2V5
Predicted Effect possibly damaging
Transcript: ENSMUST00000029158
AA Change: E151G

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029158
Gene: ENSMUSG00000027628
AA Change: E151G

DomainStartEndE-ValueType
Pfam:AAR2 6 367 4.5e-100 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109570
AA Change: E151G

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105198
Gene: ENSMUSG00000027628
AA Change: E151G

DomainStartEndE-ValueType
Pfam:AAR2 17 364 3.8e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137928
Predicted Effect probably benign
Transcript: ENSMUST00000150212
SMART Domains Protein: ENSMUSP00000118090
Gene: ENSMUSG00000027628

DomainStartEndE-ValueType
Pfam:AAR2 6 124 3.2e-34 PFAM
Meta Mutation Damage Score 0.0681 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 100% (42/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik C T 13: 119,603,478 (GRCm39) P93S probably benign Het
4930563M21Rik T C 9: 55,888,126 (GRCm39) D397G probably benign Het
Cacna2d4 A G 6: 119,217,669 (GRCm39) D125G probably null Het
Cdc20 C T 4: 118,290,257 (GRCm39) R468Q probably damaging Het
Cers3 T C 7: 66,423,424 (GRCm39) F87S probably damaging Het
Cfap74 C A 4: 155,547,529 (GRCm39) H1238Q probably benign Het
Cndp1 G T 18: 84,636,342 (GRCm39) H391N probably benign Het
Cpz T C 5: 35,659,818 (GRCm39) D609G probably benign Het
Dpp8 A G 9: 64,962,205 (GRCm39) D415G probably benign Het
Erbb2 A G 11: 98,318,869 (GRCm39) K549R probably benign Het
Fam186a T C 15: 99,841,523 (GRCm39) I1574V probably benign Het
Gm6871 G T 7: 41,195,204 (GRCm39) T511K probably damaging Het
Gpr158 G T 2: 21,373,362 (GRCm39) C99F probably damaging Het
Gtf2h1 C T 7: 46,454,489 (GRCm39) A157V probably benign Het
Hexb T C 13: 97,313,259 (GRCm39) probably benign Het
Ighv3-4 A T 12: 114,217,533 (GRCm39) D19E probably benign Het
Igkv12-44 A G 6: 69,791,868 (GRCm39) S32P probably benign Het
Klk6 A G 7: 43,478,597 (GRCm39) H168R probably benign Het
Lin54 G A 5: 100,623,603 (GRCm39) S78L possibly damaging Het
Lzts1 G T 8: 69,588,579 (GRCm39) A459E possibly damaging Het
Mlf1 G A 3: 67,291,910 (GRCm39) S25N probably benign Het
Mrgprx2 C A 7: 48,132,738 (GRCm39) V27L probably benign Het
Myof T A 19: 37,911,456 (GRCm39) R1505* probably null Het
Or4k15 T C 14: 50,364,889 (GRCm39) V285A probably benign Het
Otud7a A G 7: 63,300,702 (GRCm39) D47G probably damaging Het
Phactr1 T A 13: 43,248,363 (GRCm39) N437K possibly damaging Het
Polq G T 16: 36,833,543 (GRCm39) V79F probably damaging Het
Prc1 G A 7: 79,960,964 (GRCm39) probably benign Het
Psg20 A T 7: 18,418,434 (GRCm39) V111D probably damaging Het
Scamp3 G A 3: 89,089,234 (GRCm39) probably null Het
Simc1 C G 13: 54,674,073 (GRCm39) S807* probably null Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Snrpa A T 7: 26,892,293 (GRCm39) probably null Het
Sval2 T A 6: 41,837,283 (GRCm39) L4H probably damaging Het
Tax1bp1 C T 6: 52,743,036 (GRCm39) Q808* probably null Het
Tnfrsf11a T C 1: 105,754,962 (GRCm39) Y345H probably damaging Het
Trpa1 A G 1: 14,954,340 (GRCm39) L853P probably damaging Het
Trpm3 A G 19: 22,956,002 (GRCm39) R1155G probably damaging Het
Ube4a T C 9: 44,851,297 (GRCm39) E739G probably damaging Het
Zfp433 A C 10: 81,556,046 (GRCm39) T182P probably 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
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
R9302:Aar2 UTSW 2 156,392,956 (GRCm39) missense probably damaging 1.00
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'- GCTTCTTCCTCAGCCTGAAG -3'
(R):5'- TCTGAGAAGCGGATCTCTGTCC -3'

Sequencing Primer
(F):5'- TGCGCTGGAATGCAGTC -3'
(R):5'- GGATCTCTGTCCCAGCCCTG -3'
Posted On 2015-06-12