Incidental Mutation 'R1035:Ear2'
ID 95559
Institutional Source Beutler Lab
Gene Symbol Ear2
Ensembl Gene ENSMUSG00000072596
Gene Name eosinophil-associated, ribonuclease A family, member 2
Synonyms Rnase2, eosinophil-derived neurotoxin, liver
MMRRC Submission 039134-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R1035 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 44340111-44340988 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 44340344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000074386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074839]
AlphaFold P97425
Predicted Effect possibly damaging
Transcript: ENSMUST00000074839
AA Change: M1L

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000074386
Gene: ENSMUSG00000072596
AA Change: M1L

DomainStartEndE-ValueType
low complexity region 5 26 N/A INTRINSIC
RNAse_Pc 27 156 1.09e-57 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226587
Meta Mutation Damage Score 0.8148 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 88.4%
Validation Efficiency 97% (36/37)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Ap3b2 A T 7: 81,113,659 (GRCm39) L850Q unknown Het
Asxl3 T C 18: 22,658,106 (GRCm39) S2039P probably damaging Het
Cadm2 A T 16: 66,612,235 (GRCm39) M109K probably damaging Het
Caskin1 A G 17: 24,724,011 (GRCm39) N933S probably damaging Het
Cbln4 T C 2: 171,883,989 (GRCm39) N77S possibly damaging Het
Chek1 A G 9: 36,627,769 (GRCm39) I256T probably damaging Het
Col5a3 A T 9: 20,704,795 (GRCm39) probably benign Het
Cyp2b10 C T 7: 25,616,473 (GRCm39) S360L probably benign Het
Dctn1 T C 6: 83,167,202 (GRCm39) S222P probably damaging Het
Dnah7b A G 1: 46,163,608 (GRCm39) I471V probably benign Het
Entpd6 T A 2: 150,606,112 (GRCm39) probably benign Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
Fam98b C T 2: 117,101,120 (GRCm39) R311W possibly damaging Het
Ggt7 A T 2: 155,348,347 (GRCm39) C102S probably damaging Het
Myo15a T C 11: 60,401,384 (GRCm39) probably benign Het
Nlrp9c C T 7: 26,070,702 (GRCm39) probably benign Het
Nrxn1 A T 17: 90,471,302 (GRCm39) N1234K probably damaging Het
Or5ac19 C T 16: 59,089,307 (GRCm39) C241Y probably damaging Het
Pcsk1 T C 13: 75,280,238 (GRCm39) S688P probably benign Het
Polr1a T C 6: 71,944,900 (GRCm39) F1319L probably benign Het
Ppig T C 2: 69,579,803 (GRCm39) Y446H unknown Het
Spmap2 G A 10: 79,419,684 (GRCm39) T182M probably damaging Het
Stk17b T C 1: 53,801,758 (GRCm39) T88A probably benign Het
Tas2r143 A T 6: 42,377,199 (GRCm39) I10F probably benign Het
Tmprss12 G A 15: 100,183,081 (GRCm39) R141Q probably benign Het
Trpa1 A G 1: 14,961,527 (GRCm39) probably null Het
Txndc16 A G 14: 45,410,020 (GRCm39) S187P possibly damaging Het
Vmn2r98 T C 17: 19,301,011 (GRCm39) I671T possibly damaging Het
Zfp78 G T 7: 6,381,660 (GRCm39) V237F probably damaging Het
Other mutations in Ear2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01700:Ear2 APN 14 44,340,716 (GRCm39) nonsense probably null
IGL01729:Ear2 APN 14 44,340,701 (GRCm39) nonsense probably null
R0346:Ear2 UTSW 14 44,340,363 (GRCm39) missense probably damaging 1.00
R0458:Ear2 UTSW 14 44,340,705 (GRCm39) missense probably damaging 1.00
R4920:Ear2 UTSW 14 44,340,582 (GRCm39) missense probably damaging 0.97
R5845:Ear2 UTSW 14 44,340,618 (GRCm39) missense probably benign 0.00
R6008:Ear2 UTSW 14 44,340,546 (GRCm39) missense probably damaging 1.00
R6432:Ear2 UTSW 14 44,340,660 (GRCm39) missense probably damaging 1.00
R6720:Ear2 UTSW 14 44,340,416 (GRCm39) missense probably damaging 0.99
R7721:Ear2 UTSW 14 44,340,495 (GRCm39) missense probably damaging 1.00
R8251:Ear2 UTSW 14 44,340,477 (GRCm39) missense probably benign 0.00
R8719:Ear2 UTSW 14 44,340,734 (GRCm39) missense possibly damaging 0.94
R9659:Ear2 UTSW 14 44,340,705 (GRCm39) missense probably damaging 1.00
R9776:Ear2 UTSW 14 44,340,729 (GRCm39) missense probably benign 0.02
R9788:Ear2 UTSW 14 44,340,705 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTTCCACGGGAGCCACAAAG -3'
(R):5'- GCACAAGCCACTTGGATTTCCACAC -3'

Sequencing Primer
(F):5'- GCAGACAGGGTAAGACACTGAC -3'
(R):5'- CCAACAGCATTAGCAAAACTTGTATG -3'
Posted On 2014-01-05