Incidental Mutation 'R9727:Elavl2'
ID 731086
Institutional Source Beutler Lab
Gene Symbol Elavl2
Ensembl Gene ENSMUSG00000008489
Gene Name ELAV like RNA binding protein 1
Synonyms mel-N1, Hub
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.412) question?
Stock # R9727 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 91139000-91289022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91169495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 97 (I97V)
Ref Sequence ENSEMBL: ENSMUSP00000102727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008633] [ENSMUST00000102799] [ENSMUST00000107109] [ENSMUST00000107110] [ENSMUST00000107111] [ENSMUST00000107116] [ENSMUST00000107118] [ENSMUST00000107120] [ENSMUST00000107124] [ENSMUST00000177109]
AlphaFold Q60899
Predicted Effect probably benign
Transcript: ENSMUST00000008633
AA Change: I97V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000008633
Gene: ENSMUSG00000008489
AA Change: I97V

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
AA Change: I111V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099863
Gene: ENSMUSG00000008489
AA Change: I111V

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
AA Change: I97V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102726
Gene: ENSMUSG00000008489
AA Change: I97V

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
AA Change: I97V

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000102727
Gene: ENSMUSG00000008489
AA Change: I97V

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
AA Change: I97V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000102728
Gene: ENSMUSG00000008489
AA Change: I97V

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: I126V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102733
Gene: ENSMUSG00000008489
AA Change: I126V

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: I126V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102735
Gene: ENSMUSG00000008489
AA Change: I126V

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: I126V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102737
Gene: ENSMUSG00000008489
AA Change: I126V

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: ENSMUST00000107124
AA Change: I97V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102741
Gene: ENSMUSG00000008489
AA Change: I97V

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
AA Change: I97V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135780
Gene: ENSMUSG00000008489
AA Change: I97V

DomainStartEndE-ValueType
RRM 40 113 1.44e-24 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akirin2 A G 4: 34,565,248 (GRCm39) Y165C probably damaging Het
Aox4 A G 1: 58,286,473 (GRCm39) I702V probably benign Het
Arhgef33 A G 17: 80,678,720 (GRCm39) Y472C probably damaging Het
Atp13a4 T G 16: 29,228,589 (GRCm39) S964R Het
Atp1a2 T A 1: 172,118,936 (GRCm39) I69F probably benign Het
Bub1 T C 2: 127,652,609 (GRCm39) D586G possibly damaging Het
Ccdc177 C A 12: 80,806,044 (GRCm39) A77S probably benign Het
Ccdc187 A G 2: 26,171,204 (GRCm39) W425R probably damaging Het
Ccn2 A G 10: 24,471,820 (GRCm39) E37G probably benign Het
Ccsap T C 8: 124,572,169 (GRCm39) D111G possibly damaging Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Ceacam3 C A 7: 16,892,262 (GRCm39) T335K Het
Col22a1 A T 15: 71,849,123 (GRCm39) W322R probably damaging Het
Col5a2 A G 1: 45,415,818 (GRCm39) V1443A possibly damaging Het
Dnah12 C T 14: 26,523,510 (GRCm39) Q2000* probably null Het
Dock7 G T 4: 98,875,568 (GRCm39) T1154K unknown Het
Dot1l T C 10: 80,628,382 (GRCm39) L1140P unknown Het
Dst G A 1: 34,314,877 (GRCm39) V4489M probably damaging Het
Duox2 G A 2: 122,116,998 (GRCm39) R960* probably null Het
Emp1 G T 6: 135,358,016 (GRCm39) A121S probably benign Het
Exph5 A T 9: 53,287,702 (GRCm39) R1594S probably damaging Het
Fam186b C T 15: 99,171,669 (GRCm39) M859I probably benign Het
Fat2 A G 11: 55,159,137 (GRCm39) V3345A probably damaging Het
Gtf2f1 A T 17: 57,318,005 (GRCm39) N10K possibly damaging Het
Hid1 T G 11: 115,245,939 (GRCm39) K384N probably damaging Het
Hmcn1 T C 1: 150,674,566 (GRCm39) R579G probably benign Het
Igf1r T A 7: 67,857,554 (GRCm39) V1078D probably damaging Het
Il20rb A T 9: 100,357,001 (GRCm39) M43K probably damaging Het
Kdm3a A T 6: 71,569,094 (GRCm39) Y1134* probably null Het
Kif12 T A 4: 63,085,978 (GRCm39) N429I probably damaging Het
Kif18a C T 2: 109,118,464 (GRCm39) T93I probably damaging Het
Krtap9-5 T A 11: 99,839,340 (GRCm39) C14S possibly damaging Het
Lgals8 A T 13: 12,462,038 (GRCm39) M264K possibly damaging Het
Mlxipl T A 5: 135,150,388 (GRCm39) C143* probably null Het
Mtcl2 T A 2: 156,862,168 (GRCm39) Q1587L possibly damaging Het
Mvp A T 7: 126,595,040 (GRCm39) H268Q probably damaging Het
Ngef G A 1: 87,431,010 (GRCm39) P269L probably damaging Het
Nos2 A G 11: 78,843,825 (GRCm39) Y924C possibly damaging Het
Or4f52 A T 2: 111,061,961 (GRCm39) M59K probably damaging Het
Phf20l1 A G 15: 66,487,231 (GRCm39) N449S probably benign Het
Pot1b A C 17: 55,999,795 (GRCm39) I210S possibly damaging Het
Ptrh1 T A 2: 32,665,854 (GRCm39) W5R probably benign Het
Rasgrp3 A G 17: 75,810,239 (GRCm39) H313R probably damaging Het
Ric1 A T 19: 29,575,258 (GRCm39) I984F probably damaging Het
Rin2 G A 2: 145,702,506 (GRCm39) A401T possibly damaging Het
Rmdn3 C A 2: 118,968,827 (GRCm39) probably null Het
Senp7 A T 16: 55,990,169 (GRCm39) H639L probably benign Het
Sipa1l1 T C 12: 82,471,829 (GRCm39) S1270P probably damaging Het
Slc22a28 T A 19: 8,108,818 (GRCm39) E108V probably benign Het
Slc7a5 A G 8: 122,613,085 (GRCm39) I331T probably benign Het
Smarca4 T C 9: 21,611,160 (GRCm39) Y1467H probably damaging Het
Srebf2 T A 15: 82,076,506 (GRCm39) F759I possibly damaging Het
Thumpd2 A T 17: 81,345,585 (GRCm39) D304E probably damaging Het
Tmem59 A G 4: 107,050,547 (GRCm39) E226G probably benign Het
Trpv1 A C 11: 73,130,347 (GRCm39) D151A probably damaging Het
Txnrd3 A G 6: 89,651,751 (GRCm39) D607G probably benign Het
Ubr4 T A 4: 139,140,735 (GRCm39) V1218E probably damaging Het
Ugt2b5 T A 5: 87,288,165 (GRCm39) M1L probably damaging Het
Vwa5b2 C T 16: 20,423,477 (GRCm39) A1130V probably damaging Het
Wdr4 T C 17: 31,718,045 (GRCm39) E343G probably benign Het
Zbtb34 C A 2: 33,301,533 (GRCm39) R336L probably benign Het
Zfp607b T C 7: 27,403,125 (GRCm39) V527A probably benign Het
Zfp949 T A 9: 88,451,913 (GRCm39) C494* probably null 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
R1294:Elavl2 UTSW 4 91,199,826 (GRCm39) missense probably benign 0.02
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
Predicted Primers PCR Primer
(F):5'- CAGTATATATCGGAGGGCACTG -3'
(R):5'- CACTGCTTGCTGAGTTCTAAAG -3'

Sequencing Primer
(F):5'- TGCTCTTTCTGCTAATATAAATGTCC -3'
(R):5'- CTGCTTGCTGAGTTCTAAAGATATC -3'
Posted On 2022-10-06