Incidental Mutation 'IGL00925:Celf2'
ID 26891
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Celf2
Ensembl Gene ENSMUSG00000002107
Gene Name CUGBP, Elav-like family member 2
Synonyms Cugbp2, B230345P09Rik, Napor-2, ETR-3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.462) question?
Stock # IGL00925
Quality Score
Status
Chromosome 2
Chromosomal Location 6544505-7401345 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6726388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 6 (D6E)
Ref Sequence ENSEMBL: ENSMUSP00000138785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002176] [ENSMUST00000100429] [ENSMUST00000114923] [ENSMUST00000114924] [ENSMUST00000114927] [ENSMUST00000114934] [ENSMUST00000123142] [ENSMUST00000183091] [ENSMUST00000170438] [ENSMUST00000182879] [ENSMUST00000182657] [ENSMUST00000137733] [ENSMUST00000182851] [ENSMUST00000150624] [ENSMUST00000142941] [ENSMUST00000182706] [ENSMUST00000182404] [ENSMUST00000183984] [ENSMUST00000183209]
AlphaFold Q9Z0H4
Predicted Effect probably benign
Transcript: ENSMUST00000002176
AA Change: D6E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002176
Gene: ENSMUSG00000002107
AA Change: D6E

DomainStartEndE-ValueType
RRM 17 95 1.29e-17 SMART
RRM 109 184 4.22e-22 SMART
low complexity region 194 223 N/A INTRINSIC
low complexity region 252 279 N/A INTRINSIC
low complexity region 281 293 N/A INTRINSIC
low complexity region 326 355 N/A INTRINSIC
low complexity region 379 392 N/A INTRINSIC
RRM 400 473 3.2e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100429
AA Change: D6E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097996
Gene: ENSMUSG00000002107
AA Change: D6E

DomainStartEndE-ValueType
RRM 17 95 1.29e-17 SMART
RRM 109 184 4.22e-22 SMART
low complexity region 194 223 N/A INTRINSIC
low complexity region 252 279 N/A INTRINSIC
low complexity region 281 293 N/A INTRINSIC
low complexity region 341 362 N/A INTRINSIC
low complexity region 385 398 N/A INTRINSIC
RRM 406 479 3.2e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114923
AA Change: D42E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110573
Gene: ENSMUSG00000002107
AA Change: D42E

DomainStartEndE-ValueType
RRM 41 120 1.6e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114924
AA Change: D48E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110574
Gene: ENSMUSG00000002107
AA Change: D48E

DomainStartEndE-ValueType
RRM 59 137 1.29e-17 SMART
RRM 151 226 4.22e-22 SMART
low complexity region 236 265 N/A INTRINSIC
low complexity region 294 321 N/A INTRINSIC
low complexity region 323 335 N/A INTRINSIC
low complexity region 368 397 N/A INTRINSIC
low complexity region 421 434 N/A INTRINSIC
RRM 442 515 3.2e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114927
AA Change: D6E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110577
Gene: ENSMUSG00000002107
AA Change: D6E

DomainStartEndE-ValueType
RRM 17 95 1.29e-17 SMART
RRM 109 184 4.22e-22 SMART
low complexity region 194 223 N/A INTRINSIC
low complexity region 252 279 N/A INTRINSIC
low complexity region 281 293 N/A INTRINSIC
low complexity region 341 359 N/A INTRINSIC
low complexity region 383 396 N/A INTRINSIC
RRM 404 477 3.2e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114934
AA Change: D48E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110584
Gene: ENSMUSG00000002107
AA Change: D48E

DomainStartEndE-ValueType
RRM 59 137 1.29e-17 SMART
RRM 151 226 4.22e-22 SMART
low complexity region 236 265 N/A INTRINSIC
low complexity region 294 321 N/A INTRINSIC
low complexity region 323 335 N/A INTRINSIC
low complexity region 368 397 N/A INTRINSIC
low complexity region 421 434 N/A INTRINSIC
RRM 442 515 3.2e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123142
AA Change: D6E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138666
Gene: ENSMUSG00000002107
AA Change: D6E

DomainStartEndE-ValueType
RRM 17 91 1.58e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183091
AA Change: D30E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138795
Gene: ENSMUSG00000002107
AA Change: D30E

DomainStartEndE-ValueType
RRM 41 119 1.29e-17 SMART
RRM 133 208 4.22e-22 SMART
low complexity region 218 247 N/A INTRINSIC
low complexity region 276 303 N/A INTRINSIC
low complexity region 305 317 N/A INTRINSIC
RRM 366 449 4.92e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170438
AA Change: D48E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130829
Gene: ENSMUSG00000002107
AA Change: D48E

DomainStartEndE-ValueType
RRM 59 137 1.29e-17 SMART
RRM 151 226 4.22e-22 SMART
low complexity region 236 265 N/A INTRINSIC
low complexity region 294 321 N/A INTRINSIC
low complexity region 323 335 N/A INTRINSIC
RRM 384 467 4.92e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182879
AA Change: D6E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138359
Gene: ENSMUSG00000002107
AA Change: D6E

DomainStartEndE-ValueType
RRM 17 95 1.29e-17 SMART
RRM 109 184 4.22e-22 SMART
low complexity region 194 223 N/A INTRINSIC
low complexity region 252 279 N/A INTRINSIC
low complexity region 281 293 N/A INTRINSIC
RRM 346 429 4.92e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182657
AA Change: D6E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000137733
AA Change: D6E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138694
Gene: ENSMUSG00000002107
AA Change: D6E

DomainStartEndE-ValueType
RRM 17 95 1.29e-17 SMART
internal_repeat_1 109 134 2.62e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000182851
AA Change: D30E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138363
Gene: ENSMUSG00000002107
AA Change: D30E

DomainStartEndE-ValueType
RRM 41 119 1.29e-17 SMART
RRM 133 208 4.22e-22 SMART
low complexity region 218 247 N/A INTRINSIC
low complexity region 276 303 N/A INTRINSIC
low complexity region 305 317 N/A INTRINSIC
low complexity region 350 379 N/A INTRINSIC
low complexity region 403 416 N/A INTRINSIC
RRM 424 497 3.2e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150624
AA Change: D6E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138297
Gene: ENSMUSG00000002107
AA Change: D6E

DomainStartEndE-ValueType
RRM 17 95 1.29e-17 SMART
RRM 109 184 4.22e-22 SMART
low complexity region 194 223 N/A INTRINSIC
low complexity region 252 279 N/A INTRINSIC
low complexity region 281 293 N/A INTRINSIC
low complexity region 341 359 N/A INTRINSIC
low complexity region 383 396 N/A INTRINSIC
RRM 404 477 3.2e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142941
AA Change: D6E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120459
Gene: ENSMUSG00000002107
AA Change: D6E

DomainStartEndE-ValueType
RRM 17 95 1.29e-17 SMART
RRM 109 184 4.22e-22 SMART
low complexity region 194 223 N/A INTRINSIC
low complexity region 252 279 N/A INTRINSIC
low complexity region 281 293 N/A INTRINSIC
low complexity region 341 362 N/A INTRINSIC
low complexity region 385 398 N/A INTRINSIC
RRM 406 479 3.2e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182706
AA Change: D42E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138764
Gene: ENSMUSG00000002107
AA Change: D42E

DomainStartEndE-ValueType
RRM 53 131 1.29e-17 SMART
RRM 145 220 4.22e-22 SMART
low complexity region 230 259 N/A INTRINSIC
low complexity region 288 315 N/A INTRINSIC
low complexity region 317 329 N/A INTRINSIC
low complexity region 362 391 N/A INTRINSIC
low complexity region 415 428 N/A INTRINSIC
RRM 436 509 3.2e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138347
SMART Domains Protein: ENSMUSP00000114914
Gene: ENSMUSG00000002107

DomainStartEndE-ValueType
RRM 24 102 1.29e-17 SMART
RRM 116 184 1.64e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182560
Predicted Effect probably benign
Transcript: ENSMUST00000182404
SMART Domains Protein: ENSMUSP00000138769
Gene: ENSMUSG00000002107

DomainStartEndE-ValueType
RRM 22 97 4.22e-22 SMART
low complexity region 107 136 N/A INTRINSIC
low complexity region 165 192 N/A INTRINSIC
low complexity region 194 206 N/A INTRINSIC
low complexity region 254 272 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183984
AA Change: D93E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138974
Gene: ENSMUSG00000002107
AA Change: D93E

DomainStartEndE-ValueType
low complexity region 2 54 N/A INTRINSIC
RRM 104 182 1.29e-17 SMART
RRM 196 271 4.22e-22 SMART
low complexity region 281 310 N/A INTRINSIC
low complexity region 339 366 N/A INTRINSIC
low complexity region 368 380 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183209
AA Change: D42E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138355
Gene: ENSMUSG00000002107
AA Change: D42E

DomainStartEndE-ValueType
RRM 53 131 1.29e-17 SMART
RRM 145 220 4.22e-22 SMART
low complexity region 230 259 N/A INTRINSIC
low complexity region 288 315 N/A INTRINSIC
low complexity region 317 329 N/A INTRINSIC
RRM 378 461 4.92e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183269
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 T A 6: 48,907,974 (GRCm39) Y325N probably damaging Het
Atoh8 A G 6: 72,211,553 (GRCm39) V199A probably benign Het
Cep170 T C 1: 176,621,090 (GRCm39) D29G probably damaging Het
Cpb2 T C 14: 75,498,190 (GRCm39) Y118H possibly damaging Het
Esf1 A G 2: 140,009,737 (GRCm39) S200P probably benign Het
Glmn A T 5: 107,705,193 (GRCm39) N474K probably damaging Het
Maea T C 5: 33,529,645 (GRCm39) V377A probably benign Het
Npepps A G 11: 97,171,109 (GRCm39) V59A probably damaging Het
Ocrl A G X: 47,035,974 (GRCm39) E565G probably benign Het
Or5al7 T C 2: 85,993,264 (GRCm39) T10A probably benign Het
Pclo T C 5: 14,816,755 (GRCm39) S4544P unknown Het
Per3 T C 4: 151,098,055 (GRCm39) Y693C probably benign Het
Prkacb G T 3: 146,453,797 (GRCm39) P167H probably benign Het
Ptprt A G 2: 161,498,083 (GRCm39) S837P possibly damaging Het
Sema7a G T 9: 57,863,121 (GRCm39) C264F probably damaging Het
Slitrk4 G T X: 63,315,657 (GRCm39) P337T probably damaging Het
Tango6 T G 8: 107,422,077 (GRCm39) probably benign Het
Tecta T C 9: 42,286,331 (GRCm39) D775G probably benign Het
Tmem45a2 T A 16: 56,865,618 (GRCm39) N189Y probably damaging Het
Ttc8 A G 12: 98,942,277 (GRCm39) N364S probably damaging Het
Uhrf1 A G 17: 56,627,535 (GRCm39) D697G probably benign Het
Vmn1r185 G A 7: 26,310,615 (GRCm39) L297F probably benign Het
Vmn2r11 T C 5: 109,194,885 (GRCm39) T814A probably benign Het
Wdr36 A G 18: 32,978,684 (GRCm39) T198A possibly damaging Het
Zfhx2 G A 14: 55,310,518 (GRCm39) P676L probably benign Het
Zfp451 A G 1: 33,815,342 (GRCm39) probably benign Het
Other mutations in Celf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01974:Celf2 APN 2 6,608,842 (GRCm39) missense probably damaging 1.00
IGL02159:Celf2 APN 2 6,608,988 (GRCm39) nonsense probably null
LCD18:Celf2 UTSW 2 6,779,076 (GRCm38) intron probably benign
R0113:Celf2 UTSW 2 6,629,525 (GRCm39) missense probably damaging 1.00
R0511:Celf2 UTSW 2 6,608,987 (GRCm39) missense probably damaging 1.00
R0711:Celf2 UTSW 2 6,726,226 (GRCm39) critical splice donor site probably null
R1755:Celf2 UTSW 2 6,889,769 (GRCm39) start codon destroyed probably benign 0.01
R1802:Celf2 UTSW 2 6,554,744 (GRCm39) missense probably damaging 1.00
R1898:Celf2 UTSW 2 6,608,975 (GRCm39) missense probably damaging 1.00
R1912:Celf2 UTSW 2 6,620,564 (GRCm39) missense probably damaging 1.00
R2422:Celf2 UTSW 2 6,558,700 (GRCm39) missense probably damaging 1.00
R2848:Celf2 UTSW 2 6,608,936 (GRCm39) missense probably damaging 0.96
R2849:Celf2 UTSW 2 6,608,936 (GRCm39) missense probably damaging 0.96
R3708:Celf2 UTSW 2 6,629,489 (GRCm39) missense probably damaging 1.00
R4295:Celf2 UTSW 2 6,608,875 (GRCm39) missense probably benign 0.10
R4601:Celf2 UTSW 2 6,590,831 (GRCm39) missense possibly damaging 0.87
R4602:Celf2 UTSW 2 6,590,831 (GRCm39) missense possibly damaging 0.87
R4610:Celf2 UTSW 2 6,590,831 (GRCm39) missense possibly damaging 0.87
R4611:Celf2 UTSW 2 6,590,831 (GRCm39) missense possibly damaging 0.87
R4667:Celf2 UTSW 2 6,726,339 (GRCm39) missense probably benign 0.44
R4668:Celf2 UTSW 2 6,726,339 (GRCm39) missense probably benign 0.44
R4669:Celf2 UTSW 2 6,726,339 (GRCm39) missense probably benign 0.44
R4790:Celf2 UTSW 2 6,554,714 (GRCm39) missense probably damaging 1.00
R5022:Celf2 UTSW 2 6,612,658 (GRCm39) intron probably benign
R5369:Celf2 UTSW 2 7,085,892 (GRCm39) intron probably benign
R5540:Celf2 UTSW 2 6,558,743 (GRCm39) missense probably benign 0.43
R5805:Celf2 UTSW 2 6,558,598 (GRCm39) missense probably damaging 1.00
R5913:Celf2 UTSW 2 7,085,969 (GRCm39) start codon destroyed probably null 0.02
R6330:Celf2 UTSW 2 6,889,766 (GRCm39) missense probably benign 0.05
R7505:Celf2 UTSW 2 6,629,511 (GRCm39) missense probably damaging 1.00
R7662:Celf2 UTSW 2 6,558,728 (GRCm39) missense probably damaging 1.00
R8316:Celf2 UTSW 2 6,551,914 (GRCm39) missense probably benign 0.03
R8437:Celf2 UTSW 2 6,551,956 (GRCm39) missense probably damaging 1.00
R8860:Celf2 UTSW 2 6,565,468 (GRCm39) critical splice donor site probably null
R9170:Celf2 UTSW 2 6,554,646 (GRCm39) missense possibly damaging 0.75
R9373:Celf2 UTSW 2 6,551,915 (GRCm39) missense probably benign 0.24
R9374:Celf2 UTSW 2 6,590,886 (GRCm39) missense possibly damaging 0.95
R9382:Celf2 UTSW 2 6,726,404 (GRCm39) missense probably damaging 1.00
R9623:Celf2 UTSW 2 6,620,522 (GRCm39) missense probably damaging 1.00
R9626:Celf2 UTSW 2 6,590,835 (GRCm39) missense probably benign 0.33
R9718:Celf2 UTSW 2 6,726,349 (GRCm39) missense probably damaging 1.00
X0018:Celf2 UTSW 2 6,558,724 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17