Incidental Mutation 'R4295:Celf2'
ID 323242
Institutional Source Beutler Lab
Gene Symbol Celf2
Ensembl Gene ENSMUSG00000002107
Gene Name CUGBP, Elav-like family member 2
Synonyms Cugbp2, B230345P09Rik, Napor-2, ETR-3
MMRRC Submission 041084-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.462) question?
Stock # R4295 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 6544505-7401345 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6608875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 302 (N302S)
Ref Sequence ENSEMBL: ENSMUSP00000138974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002176] [ENSMUST00000100429] [ENSMUST00000114924] [ENSMUST00000114927] [ENSMUST00000114934] [ENSMUST00000142941] [ENSMUST00000182404] [ENSMUST00000183091] [ENSMUST00000182851] [ENSMUST00000183984] [ENSMUST00000170438] [ENSMUST00000182879] [ENSMUST00000183209] [ENSMUST00000182706] [ENSMUST00000150624]
AlphaFold Q9Z0H4
Predicted Effect probably benign
Transcript: ENSMUST00000002176
AA Change: N215S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000002176
Gene: ENSMUSG00000002107
AA Change: N215S

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: N215S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097996
Gene: ENSMUSG00000002107
AA Change: N215S

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: ENSMUST00000114924
AA Change: N257S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000110574
Gene: ENSMUSG00000002107
AA Change: N257S

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: N215S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110577
Gene: ENSMUSG00000002107
AA Change: N215S

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: N257S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000110584
Gene: ENSMUSG00000002107
AA Change: N257S

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 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 probably benign
Transcript: ENSMUST00000142941
AA Change: N215S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000120459
Gene: ENSMUSG00000002107
AA Change: N215S

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 noncoding transcript
Transcript: ENSMUST00000183269
Predicted Effect probably benign
Transcript: ENSMUST00000182404
AA Change: N128S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000138769
Gene: ENSMUSG00000002107
AA Change: N128S

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: ENSMUST00000183091
AA Change: N239S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000138795
Gene: ENSMUSG00000002107
AA Change: N239S

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: ENSMUST00000182851
AA Change: N239S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138363
Gene: ENSMUSG00000002107
AA Change: N239S

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: ENSMUST00000183984
AA Change: N302S

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000138974
Gene: ENSMUSG00000002107
AA Change: N302S

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: ENSMUST00000170438
AA Change: N257S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000130829
Gene: ENSMUSG00000002107
AA Change: N257S

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: N215S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000138359
Gene: ENSMUSG00000002107
AA Change: N215S

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: ENSMUST00000183209
AA Change: N251S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138355
Gene: ENSMUSG00000002107
AA Change: N251S

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 probably benign
Transcript: ENSMUST00000182706
AA Change: N251S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000138764
Gene: ENSMUSG00000002107
AA Change: N251S

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 probably benign
Transcript: ENSMUST00000150624
AA Change: N215S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138297
Gene: ENSMUSG00000002107
AA Change: N215S

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 noncoding transcript
Transcript: ENSMUST00000148321
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,606,249 (GRCm39) S164P probably benign Het
4933427D06Rik A G 6: 89,084,883 (GRCm39) noncoding transcript Het
Aldh1l2 C T 10: 83,331,784 (GRCm39) V674M possibly damaging Het
Angel1 A G 12: 86,767,057 (GRCm39) Y440H probably damaging Het
Atr A G 9: 95,756,479 (GRCm39) I870V probably benign Het
Cd200r4 T C 16: 44,653,239 (GRCm39) V3A probably damaging Het
Cip2a T A 16: 48,833,612 (GRCm39) F571Y probably benign Het
Dnah17 A T 11: 118,009,598 (GRCm39) I363N probably damaging Het
Fam98a A T 17: 75,848,342 (GRCm39) M124K probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Foxj3 G T 4: 119,483,494 (GRCm39) G555* probably null Het
Gm4841 T C 18: 60,403,262 (GRCm39) N277S probably benign Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Kif18a T C 2: 109,123,398 (GRCm39) V224A probably benign Het
Lamb2 A G 9: 108,363,410 (GRCm39) D863G probably benign Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Lcn11 G A 2: 25,668,111 (GRCm39) A90T possibly damaging Het
Or14c46 A T 7: 85,918,968 (GRCm39) F10I probably damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Or5m3 T C 2: 85,838,614 (GRCm39) Y165H probably benign Het
Or8d2b A G 9: 38,788,609 (GRCm39) I46V probably damaging Het
Or9a4 T A 6: 40,549,090 (GRCm39) F257I probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Pcgf2 A T 11: 97,584,282 (GRCm39) Y24* probably null Het
Phf14 C T 6: 11,987,096 (GRCm39) P559S probably damaging Het
Pigf A G 17: 87,331,184 (GRCm39) I46T probably benign Het
Plpp4 A G 7: 128,909,356 (GRCm39) E22G probably damaging Het
Prdm10 A G 9: 31,227,590 (GRCm39) E65G possibly damaging Het
Sash1 A G 10: 8,606,006 (GRCm39) S795P possibly damaging Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Spata13 T A 14: 60,947,004 (GRCm39) M684K probably damaging Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Stk32c T C 7: 138,700,704 (GRCm39) probably null Het
Tjp1 T C 7: 64,972,898 (GRCm39) D514G probably damaging Het
Ttll11 TCGCCGCCGCCGCCGCCGCCGC TCGCCGCCGCCGCCGCCGC 2: 35,869,564 (GRCm39) probably benign Het
Unc13c A G 9: 73,641,786 (GRCm39) S1236P probably damaging Het
Utp20 G T 10: 88,590,381 (GRCm39) D2364E possibly damaging Het
Vmn1r192 T A 13: 22,371,465 (GRCm39) I252F probably damaging Het
Vmn1r76 T C 7: 11,665,057 (GRCm39) I52M probably benign Het
Xndc1 T A 7: 101,730,694 (GRCm39) L288M possibly damaging Het
Zfp451 A T 1: 33,816,836 (GRCm39) F154L probably damaging Het
Other mutations in Celf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Celf2 APN 2 6,726,388 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- AGGCCAAAGTTAAGTTAGGCAC -3'
(R):5'- GGATTCAATCAGGCTGTACCC -3'

Sequencing Primer
(F):5'- AAAATCCTGCCCTAATGCTGATTTC -3'
(R):5'- AGGCTGTACCCTGTCTTCAC -3'
Posted On 2015-06-20