Incidental Mutation 'R0709:Aar2'
ID 216222
Institutional Source Beutler Lab
Gene Symbol Aar2
Ensembl Gene ENSMUSG00000027628
Gene Name AAR2 splicing factor homolog
MMRRC Submission 038892-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.208) question?
Stock # R0709 (G1)
Quality Score 36
Status Validated
Chromosome 2
Chromosomal Location 156547584-156568972 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 156567010 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 378 (P378L)
Ref Sequence ENSEMBL: ENSMUSP00000105198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029158] [ENSMUST00000109570]
AlphaFold Q9D2V5
Predicted Effect probably damaging
Transcript: ENSMUST00000029158
AA Change: P378L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029158
Gene: ENSMUSG00000027628
AA Change: P378L

Pfam:AAR2 6 367 4.5e-100 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109570
AA Change: P378L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105198
Gene: ENSMUSG00000027628
AA Change: P378L

Pfam:AAR2 17 364 3.8e-108 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144818
Meta Mutation Damage Score 0.2334 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 98% (83/85)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik A T 16: 14,618,494 (GRCm38) D137V probably damaging Het
Abcc5 A T 16: 20,376,592 (GRCm38) H718Q possibly damaging Het
Ace G T 11: 105,981,538 (GRCm38) L319F probably damaging Het
Angpt4 C A 2: 151,934,514 (GRCm38) P321T possibly damaging Het
Atrip T C 9: 109,067,103 (GRCm38) N282S probably benign Het
AW554918 A C 18: 25,463,654 (GRCm38) S525R probably damaging Het
Casc4 T A 2: 121,867,425 (GRCm38) V74E probably damaging Het
Ccdc136 T A 6: 29,414,970 (GRCm38) I644N possibly damaging Het
Ccdc178 A G 18: 22,067,662 (GRCm38) Y413H probably damaging Het
Ccdc7b A G 8: 129,136,646 (GRCm38) H223R probably benign Het
Cd109 T C 9: 78,671,978 (GRCm38) V634A possibly damaging Het
Col7a1 T A 9: 108,961,548 (GRCm38) probably benign Het
Copb2 A T 9: 98,563,167 (GRCm38) probably benign Het
Csrnp3 C T 2: 66,022,563 (GRCm38) S445L probably damaging Het
Cxcl13 G T 5: 95,958,671 (GRCm38) C34F probably damaging Het
Dars2 T C 1: 161,046,928 (GRCm38) E397G probably benign Het
Dlg5 C T 14: 24,146,255 (GRCm38) V1625M probably damaging Het
Dnah12 T G 14: 26,884,265 (GRCm38) probably benign Het
Eif4a1 C A 11: 69,670,252 (GRCm38) A76S probably damaging Het
Fam162b T A 10: 51,587,251 (GRCm38) I107L probably damaging Het
Fbxo30 G T 10: 11,291,313 (GRCm38) C593F possibly damaging Het
Fut9 A G 4: 25,620,359 (GRCm38) F152L probably damaging Het
Galnt2 G A 8: 124,343,346 (GRCm38) G534D probably benign Het
Gm973 C T 1: 59,558,234 (GRCm38) probably benign Het
Gprc5a T A 6: 135,078,950 (GRCm38) S132T probably damaging Het
Hk3 G A 13: 55,014,730 (GRCm38) R47C probably damaging Het
Hrnr A T 3: 93,332,508 (GRCm38) Q3351L unknown Het
Icam1 T A 9: 21,019,127 (GRCm38) F92L probably damaging Het
Ifi213 C T 1: 173,589,800 (GRCm38) V349I possibly damaging Het
Il12rb2 T C 6: 67,298,904 (GRCm38) probably benign Het
Irx3 A G 8: 91,799,420 (GRCm38) V487A possibly damaging Het
Kalrn A G 16: 34,035,554 (GRCm38) V204A probably damaging Het
Krt16 T C 11: 100,246,454 (GRCm38) probably benign Het
Loxhd1 G A 18: 77,404,969 (GRCm38) V1369I probably benign Het
Med13 T A 11: 86,319,596 (GRCm38) K573N possibly damaging Het
Mnat1 A G 12: 73,188,188 (GRCm38) R204G possibly damaging Het
Myt1l A T 12: 29,827,733 (GRCm38) D461V unknown Het
Nek6 T A 2: 38,557,846 (GRCm38) S41T probably damaging Het
Nudt22 T C 19: 6,993,506 (GRCm38) E232G probably damaging Het
Numbl C A 7: 27,273,990 (GRCm38) F192L probably damaging Het
Olfr1202 C T 2: 88,817,882 (GRCm38) T237I probably benign Het
Olfr834 T A 9: 18,988,126 (GRCm38) I46K probably damaging Het
P2rx4 T C 5: 122,714,404 (GRCm38) V47A probably damaging Het
Phka1 T A X: 102,586,104 (GRCm38) I478F probably damaging Het
Pkn2 G A 3: 142,830,520 (GRCm38) T200I probably damaging Het
Plcg1 T A 2: 160,751,778 (GRCm38) probably null Het
Polg2 C T 11: 106,768,413 (GRCm38) G425R probably damaging Het
Ptprm G T 17: 66,944,332 (GRCm38) probably null Het
Reg1 G A 6: 78,428,118 (GRCm38) R108H possibly damaging Het
Slc19a2 T A 1: 164,256,798 (GRCm38) F86I probably damaging Het
Slc26a11 T C 11: 119,374,777 (GRCm38) L372P probably damaging Het
Slc2a4 C T 11: 69,946,159 (GRCm38) V28M possibly damaging Het
Snap29 A G 16: 17,406,148 (GRCm38) N9S probably damaging Het
Snd1 C G 6: 28,545,470 (GRCm38) probably benign Het
Sorcs3 G A 19: 48,487,406 (GRCm38) A235T probably benign Het
Sp100 T A 1: 85,694,281 (GRCm38) N362K probably damaging Het
Sqor A T 2: 122,799,855 (GRCm38) I32F probably benign Het
Stx6 C T 1: 155,193,294 (GRCm38) R189C probably damaging Het
Tchp T C 5: 114,717,453 (GRCm38) I298T probably damaging Het
Themis A G 10: 28,761,574 (GRCm38) I225V probably benign Het
Timm50 A T 7: 28,306,941 (GRCm38) V245E probably damaging Het
Tnxb A G 17: 34,689,354 (GRCm38) E1327G probably damaging Het
Tpp1 C T 7: 105,749,607 (GRCm38) R205H probably benign Het
Tradd T C 8: 105,260,644 (GRCm38) E10G possibly damaging Het
Trim43a G A 9: 88,582,146 (GRCm38) E37K probably benign Het
Ttn T C 2: 76,899,403 (GRCm38) probably benign Het
Ttr A T 18: 20,669,977 (GRCm38) probably null Het
Ubp1 A G 9: 113,944,931 (GRCm38) Y66C probably damaging Het
Vmn2r102 A T 17: 19,677,619 (GRCm38) M299L probably benign Het
Vmn2r104 A T 17: 20,042,904 (GRCm38) N98K probably damaging Het
Yipf5 A G 18: 40,207,772 (GRCm38) S176P probably benign Het
Zpbp2 C T 11: 98,553,937 (GRCm38) T97I probably damaging Het
Other mutations in Aar2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0238:Aar2 UTSW 2 156,550,973 (GRCm38) missense probably benign
R0238:Aar2 UTSW 2 156,550,973 (GRCm38) missense probably benign
R4238:Aar2 UTSW 2 156,551,144 (GRCm38) missense possibly damaging 0.85
R7421:Aar2 UTSW 2 156,555,995 (GRCm38) missense possibly damaging 0.71
R7806:Aar2 UTSW 2 156,551,111 (GRCm38) missense possibly damaging 0.87
R8017:Aar2 UTSW 2 156,555,956 (GRCm38) missense probably benign
R8525:Aar2 UTSW 2 156,555,917 (GRCm38) missense probably benign 0.00
R9302:Aar2 UTSW 2 156,551,036 (GRCm38) missense probably damaging 1.00
R9339:Aar2 UTSW 2 156,550,973 (GRCm38) missense probably benign
R9729:Aar2 UTSW 2 156,551,441 (GRCm38) missense probably benign 0.02
R9789:Aar2 UTSW 2 156,550,825 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-07-31