Incidental Mutation 'R1185:Aimp2'
ID 200849
Institutional Source Beutler Lab
Gene Symbol Aimp2
Ensembl Gene ENSMUSG00000029610
Gene Name aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
Synonyms Jtv1, Aimp2(p38)
MMRRC Submission 039257-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1185 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 143839522-143846657 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143841509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 110 (S110P)
Ref Sequence ENSEMBL: ENSMUSP00000098052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031613] [ENSMUST00000100483] [ENSMUST00000100487]
AlphaFold Q8R010
Predicted Effect possibly damaging
Transcript: ENSMUST00000031613
AA Change: S150P

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031613
Gene: ENSMUSG00000029610
AA Change: S150P

DomainStartEndE-ValueType
Pfam:AIMP2_LysRS_bd 1 44 8.3e-26 PFAM
low complexity region 133 142 N/A INTRINSIC
Pfam:GST_C_3 231 308 2.5e-10 PFAM
Pfam:GST_C 242 310 5e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000100483
AA Change: S110P

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098052
Gene: ENSMUSG00000029610
AA Change: S110P

DomainStartEndE-ValueType
low complexity region 93 102 N/A INTRINSIC
Pfam:GST_C_3 185 268 1.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100487
SMART Domains Protein: ENSMUSP00000098056
Gene: ENSMUSG00000029613

DomainStartEndE-ValueType
low complexity region 12 28 N/A INTRINSIC
low complexity region 62 81 N/A INTRINSIC
Pfam:Pkinase_Tyr 167 242 5.6e-6 PFAM
Pfam:Pkinase 167 257 1.9e-15 PFAM
low complexity region 314 320 N/A INTRINSIC
Pfam:Pkinase 365 580 1.3e-31 PFAM
Pfam:Pkinase_Tyr 373 578 1.9e-19 PFAM
coiled coil region 585 619 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128440
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149473
Meta Mutation Damage Score 0.6304 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.9%
Validation Efficiency 96% (45/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the aminoacyl-tRNA synthetase complex, which contains nine different aminoacyl-tRNA synthetases and three non-enzymatic factors. The encoded protein is one of the non-enzymatic factors and is required for assembly and stability of the complex. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele are born with no apparent phenotype but die within 2 days of birth of unknown causes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ac165356.1 C T 7: 105,682,686 (GRCm39) A190T probably benign Het
Akap9 A G 5: 3,998,783 (GRCm39) T51A probably benign Het
Arhgef25 A G 10: 127,019,650 (GRCm39) F430L possibly damaging Het
Brap T C 5: 121,813,342 (GRCm39) V235A probably damaging Het
Cd69 C T 6: 129,247,148 (GRCm39) G23D probably damaging Het
Cecr2 C T 6: 120,735,166 (GRCm39) R24* probably null Het
Celsr2 T C 3: 108,307,025 (GRCm39) D1974G possibly damaging Het
Cps1 A G 1: 67,234,358 (GRCm39) K915R probably benign Het
Csmd1 T C 8: 16,408,362 (GRCm39) D401G probably damaging Het
Dusp13b A G 14: 21,785,086 (GRCm39) F141S probably damaging Het
Eif1ad19 A G 12: 87,740,478 (GRCm39) V27A probably benign Het
Fam162b A G 10: 51,466,439 (GRCm39) W27R probably benign Het
Focad A G 4: 88,096,424 (GRCm39) T269A probably benign Het
Ghr T A 15: 3,357,544 (GRCm39) R241S possibly damaging Het
Hirip3 AAGAG AAG 7: 126,462,832 (GRCm39) probably null Het
Ift70a1 A T 2: 75,810,696 (GRCm39) N462K probably damaging Het
Itgb2l A G 16: 96,230,240 (GRCm39) Y357H possibly damaging Het
Jrkl T C 9: 13,244,938 (GRCm39) D241G possibly damaging Het
Lmod1 A G 1: 135,291,967 (GRCm39) D274G probably benign Het
Lrrn2 A G 1: 132,866,959 (GRCm39) S675G probably benign Het
Ltbp4 G C 7: 27,009,960 (GRCm39) P1200R probably damaging Het
Mdn1 T C 4: 32,735,576 (GRCm39) L3414P possibly damaging Het
Muc19 A G 15: 91,762,743 (GRCm39) noncoding transcript Het
Myo16 T A 8: 10,683,624 (GRCm39) S1856T probably damaging Het
Neb A G 2: 52,186,310 (GRCm39) Y921H probably damaging Het
Or2n1c T A 17: 38,520,074 (GRCm39) *313R probably null Het
Pgap3 T C 11: 98,281,960 (GRCm39) D117G probably damaging Het
Ppp1r9b T C 11: 94,892,812 (GRCm39) F671L possibly damaging Het
Purg T G 8: 33,876,897 (GRCm39) Y178* probably null Het
Rsph10b G A 5: 143,903,280 (GRCm39) probably benign Het
Sorbs1 T A 19: 40,371,050 (GRCm39) D79V probably damaging Het
Tcaf3 T C 6: 42,568,368 (GRCm39) T663A probably damaging Het
Timd4 C A 11: 46,708,475 (GRCm39) T167K probably damaging Het
Tjp2 A G 19: 24,108,527 (GRCm39) L195P possibly damaging Het
Tnr G A 1: 159,679,856 (GRCm39) A277T probably benign Het
Trpm3 G A 19: 22,891,781 (GRCm39) probably benign Het
Unc13a C T 8: 72,114,477 (GRCm39) G181D probably benign Het
Vmn1r11 T A 6: 57,114,492 (GRCm39) L52Q possibly damaging Het
Zfp27 T C 7: 29,595,254 (GRCm39) D237G possibly damaging Het
Zfp39 T C 11: 58,793,670 (GRCm39) T23A possibly damaging Het
Zfp459 T G 13: 67,556,600 (GRCm39) N161T probably benign Het
Other mutations in Aimp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Aimp2 APN 5 143,843,524 (GRCm39) missense probably damaging 1.00
R0630:Aimp2 UTSW 5 143,843,419 (GRCm39) missense probably benign 0.00
R1185:Aimp2 UTSW 5 143,841,509 (GRCm39) missense possibly damaging 0.82
R1185:Aimp2 UTSW 5 143,841,509 (GRCm39) missense possibly damaging 0.82
R1992:Aimp2 UTSW 5 143,843,548 (GRCm39) missense probably damaging 1.00
R2888:Aimp2 UTSW 5 143,846,553 (GRCm39) unclassified probably benign
R3030:Aimp2 UTSW 5 143,843,509 (GRCm39) missense probably damaging 1.00
R3782:Aimp2 UTSW 5 143,843,517 (GRCm39) missense possibly damaging 0.54
R5510:Aimp2 UTSW 5 143,843,347 (GRCm39) unclassified probably benign
R5689:Aimp2 UTSW 5 143,843,389 (GRCm39) missense possibly damaging 0.51
R8019:Aimp2 UTSW 5 143,846,412 (GRCm39) missense probably benign 0.01
R8777:Aimp2 UTSW 5 143,839,825 (GRCm39) missense probably damaging 0.99
R8777-TAIL:Aimp2 UTSW 5 143,839,825 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCCTAAGTAAGTCCAACCCAGTCC -3'
(R):5'- GAGACTCAATCAGACCCTGAAGTTGTG -3'

Sequencing Primer
(F):5'- CCACATTTACCATTCTTCCAAATCAG -3'
(R):5'- gcctcatccacttgcctc -3'
Posted On 2014-05-23