Incidental Mutation 'R1294:Elavl2'
ID 158011
Institutional Source Beutler Lab
Gene Symbol Elavl2
Ensembl Gene ENSMUSG00000008489
Gene Name ELAV like RNA binding protein 1
Synonyms mel-N1, Hub
MMRRC Submission 039360-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.412) question?
Stock # R1294 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 91139000-91289022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 91199826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 19 (A19V)
Ref Sequence ENSEMBL: ENSMUSP00000102735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008633] [ENSMUST00000102799] [ENSMUST00000107109] [ENSMUST00000107110] [ENSMUST00000107111] [ENSMUST00000107116] [ENSMUST00000107118] [ENSMUST00000107120] [ENSMUST00000147611] [ENSMUST00000107124] [ENSMUST00000177109] [ENSMUST00000176362]
AlphaFold Q60899
Predicted Effect probably benign
Transcript: ENSMUST00000008633
SMART Domains Protein: ENSMUSP00000008633
Gene: ENSMUSG00000008489

DomainStartEndE-ValueType
RRM 40 113 1.44e-24 SMART
RRM 126 201 2.35e-20 SMART
RRM 278 351 5.15e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102799
SMART Domains Protein: ENSMUSP00000099863
Gene: ENSMUSG00000008489

DomainStartEndE-ValueType
RRM 54 127 1.44e-24 SMART
RRM 140 215 2.35e-20 SMART
RRM 291 364 5.15e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107109
SMART Domains Protein: ENSMUSP00000102726
Gene: ENSMUSG00000008489

DomainStartEndE-ValueType
RRM 40 113 1.44e-24 SMART
RRM 126 201 2.35e-20 SMART
RRM 277 350 5.15e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107110
SMART Domains Protein: ENSMUSP00000102727
Gene: ENSMUSG00000008489

DomainStartEndE-ValueType
RRM 40 113 1.44e-24 SMART
RRM 126 201 2.35e-20 SMART
RRM 265 338 5.15e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107111
SMART Domains Protein: ENSMUSP00000102728
Gene: ENSMUSG00000008489

DomainStartEndE-ValueType
RRM 40 113 1.44e-24 SMART
RRM 126 201 2.35e-20 SMART
RRM 264 337 5.15e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107116
AA Change: A19V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000102733
Gene: ENSMUSG00000008489
AA Change: A19V

DomainStartEndE-ValueType
RRM 69 142 1.44e-24 SMART
RRM 155 230 2.35e-20 SMART
RRM 307 380 5.15e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107118
AA Change: A19V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000102735
Gene: ENSMUSG00000008489
AA Change: A19V

DomainStartEndE-ValueType
RRM 69 142 1.44e-24 SMART
RRM 155 230 2.35e-20 SMART
RRM 294 367 5.15e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107120
AA Change: A19V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000102737
Gene: ENSMUSG00000008489
AA Change: A19V

DomainStartEndE-ValueType
RRM 69 142 1.44e-24 SMART
RRM 155 230 2.35e-20 SMART
RRM 306 379 5.15e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147611
AA Change: A19V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000117770
Gene: ENSMUSG00000008489
AA Change: A19V

DomainStartEndE-ValueType
PDB:1D8Z|A 65 83 7e-6 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176469
Predicted Effect probably benign
Transcript: ENSMUST00000107124
SMART Domains Protein: ENSMUSP00000102741
Gene: ENSMUSG00000008489

DomainStartEndE-ValueType
RRM 40 113 1.44e-24 SMART
RRM 126 201 2.35e-20 SMART
RRM 277 350 5.15e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177109
SMART Domains Protein: ENSMUSP00000135780
Gene: ENSMUSG00000008489

DomainStartEndE-ValueType
RRM 40 113 1.44e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176362
Meta Mutation Damage Score 0.1417 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.4%
Validation Efficiency 97% (33/34)
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 a neural-specific RNA-binding protein that is known to bind to several 3' UTRs, including its own and also that of FOS and ID. The encoded protein may recognize a GAAA motif in the RNA. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C2cd2 A G 16: 97,723,469 (GRCm39) L16P probably damaging Het
Cfap57 A T 4: 118,463,731 (GRCm39) probably null Het
Cnn2 A G 10: 79,829,359 (GRCm39) D163G probably damaging Het
Csmd1 T C 8: 16,748,052 (GRCm39) D233G probably damaging Het
Csta2 T A 16: 36,077,618 (GRCm39) D58E probably damaging Het
Dhh T C 15: 98,792,264 (GRCm39) Q248R probably benign Het
Fxr1 T A 3: 34,101,201 (GRCm39) M169K probably benign Het
Ghr A G 15: 3,418,128 (GRCm39) probably null Het
Gm5334 T C 7: 68,268,862 (GRCm39) S94P probably damaging Het
Klk1b3 C A 7: 43,849,720 (GRCm39) S35Y probably damaging Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Lap3 T C 5: 45,655,863 (GRCm39) V156A probably benign Het
Pcbp3 A G 10: 76,599,155 (GRCm39) I327T probably damaging Het
Plaat5 A G 19: 7,592,015 (GRCm39) probably benign Het
Polr1a A T 6: 71,889,886 (GRCm39) N35I probably damaging Het
Rab3c T C 13: 110,397,099 (GRCm39) T56A possibly damaging Het
Rapsn A T 2: 90,867,120 (GRCm39) K141* probably null Het
Rxrg G T 1: 167,441,470 (GRCm39) A83S probably benign Het
Serpinc1 T C 1: 160,817,211 (GRCm39) S102P probably damaging Het
Setd2 A G 9: 110,378,575 (GRCm39) N797D probably benign Het
Skic2 T C 17: 35,060,040 (GRCm39) probably null Het
Slc24a1 A T 9: 64,843,295 (GRCm39) V619E unknown Het
Slc25a20 A G 9: 108,554,838 (GRCm39) M128V probably benign Het
Spam1 A G 6: 24,796,906 (GRCm39) I286V probably benign Het
Tbc1d22a T A 15: 86,381,027 (GRCm39) F479Y probably damaging Het
Tdrd1 A G 19: 56,837,208 (GRCm39) probably null Het
Trim58 T A 11: 58,533,953 (GRCm39) I169N probably benign Het
Vmn1r25 A G 6: 57,955,464 (GRCm39) I275T possibly damaging Het
Zfp27 T A 7: 29,595,737 (GRCm39) Y76F possibly damaging Het
Other mutations in Elavl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Elavl2 APN 4 91,152,309 (GRCm39) missense probably damaging 1.00
IGL01886:Elavl2 APN 4 91,152,330 (GRCm39) missense probably damaging 1.00
IGL02016:Elavl2 APN 4 91,149,172 (GRCm39) missense probably damaging 1.00
IGL02024:Elavl2 APN 4 91,141,776 (GRCm39) missense probably benign 0.02
IGL02860:Elavl2 APN 4 91,149,190 (GRCm39) missense probably damaging 1.00
R0458:Elavl2 UTSW 4 91,197,104 (GRCm39) splice site probably benign
R1778:Elavl2 UTSW 4 91,141,715 (GRCm39) missense probably damaging 1.00
R2063:Elavl2 UTSW 4 91,141,687 (GRCm39) missense possibly damaging 0.81
R2190:Elavl2 UTSW 4 91,152,331 (GRCm39) missense probably benign 0.22
R3773:Elavl2 UTSW 4 91,152,325 (GRCm39) missense probably damaging 1.00
R4473:Elavl2 UTSW 4 91,149,246 (GRCm39) splice site probably null
R4784:Elavl2 UTSW 4 91,142,379 (GRCm39) missense probably null 0.97
R4911:Elavl2 UTSW 4 91,196,915 (GRCm39) missense possibly damaging 0.91
R5396:Elavl2 UTSW 4 91,149,055 (GRCm39) missense probably damaging 1.00
R6708:Elavl2 UTSW 4 91,141,634 (GRCm39) missense probably damaging 1.00
R6882:Elavl2 UTSW 4 91,196,952 (GRCm39) missense probably damaging 1.00
R7592:Elavl2 UTSW 4 91,199,808 (GRCm39) critical splice donor site probably null
R7849:Elavl2 UTSW 4 91,260,280 (GRCm39) unclassified probably benign
R9051:Elavl2 UTSW 4 91,199,847 (GRCm39) missense probably benign 0.36
R9381:Elavl2 UTSW 4 91,197,009 (GRCm39) missense probably benign
R9727:Elavl2 UTSW 4 91,169,495 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GTTCACAGAATGCACAGTCTTCAACAG -3'
(R):5'- GAATTGCCTCAAATTCAATGAAGCCCC -3'

Sequencing Primer
(F):5'- CACAGTCTTCAACAGTTACTGGG -3'
(R):5'- ACTGCATGGACGATGCTG -3'
Posted On 2014-02-18