Incidental Mutation 'R4602:Celf2'
ID 345686
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.449) question?
Stock # R4602 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 6544505-7401345 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 6590831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 279 (N279K)
Ref Sequence ENSEMBL: ENSMUSP00000138297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002176] [ENSMUST00000100429] [ENSMUST00000114924] [ENSMUST00000114927] [ENSMUST00000114934] [ENSMUST00000142941] [ENSMUST00000183984] [ENSMUST00000170438] [ENSMUST00000183209] [ENSMUST00000182879] [ENSMUST00000182851] [ENSMUST00000182404] [ENSMUST00000183091] [ENSMUST00000182706] [ENSMUST00000150624]
AlphaFold Q9Z0H4
Predicted Effect probably benign
Transcript: ENSMUST00000002176
AA Change: N279K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000002176
Gene: ENSMUSG00000002107
AA Change: N279K

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: N279K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000097996
Gene: ENSMUSG00000002107
AA Change: N279K

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: N321K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110574
Gene: ENSMUSG00000002107
AA Change: N321K

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 possibly damaging
Transcript: ENSMUST00000114927
AA Change: N279K

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110577
Gene: ENSMUSG00000002107
AA Change: N279K

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: N321K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110584
Gene: ENSMUSG00000002107
AA Change: N321K

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: ENSMUST00000142941
AA Change: N279K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000120459
Gene: ENSMUSG00000002107
AA Change: N279K

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: ENSMUST00000183984
AA Change: N366K

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000138974
Gene: ENSMUSG00000002107
AA Change: N366K

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: N321K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000130829
Gene: ENSMUSG00000002107
AA Change: N321K

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: ENSMUST00000183209
AA Change: N315K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138355
Gene: ENSMUSG00000002107
AA Change: N315K

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: ENSMUST00000182879
AA Change: N279K

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000138359
Gene: ENSMUSG00000002107
AA Change: N279K

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 noncoding transcript
Transcript: ENSMUST00000182355
Predicted Effect probably benign
Transcript: ENSMUST00000182851
AA Change: N303K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000138363
Gene: ENSMUSG00000002107
AA Change: N303K

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: ENSMUST00000182404
AA Change: N192K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000138769
Gene: ENSMUSG00000002107
AA Change: N192K

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: N303K

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138795
Gene: ENSMUSG00000002107
AA Change: N303K

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: ENSMUST00000182706
AA Change: N315K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000138764
Gene: ENSMUSG00000002107
AA Change: N315K

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 possibly damaging
Transcript: ENSMUST00000150624
AA Change: N279K

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138297
Gene: ENSMUSG00000002107
AA Change: N279K

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
Meta Mutation Damage Score 0.0615 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,988,189 (GRCm39) K3158E possibly damaging Het
Ak7 G A 12: 105,679,834 (GRCm39) V123M probably benign Het
Ankmy1 A T 1: 92,816,372 (GRCm39) N247K probably benign Het
Atp1a1 A G 3: 101,494,259 (GRCm39) V447A probably benign Het
Atp1a4 A C 1: 172,067,332 (GRCm39) M600R probably damaging Het
Baat A G 4: 49,502,727 (GRCm39) Y132H probably damaging Het
Ceacam15 A G 7: 16,405,906 (GRCm39) V215A probably damaging Het
Cfap96 A T 8: 46,423,505 (GRCm39) I69N probably damaging Het
Clec14a C T 12: 58,314,767 (GRCm39) R285H probably benign Het
Ctnna1 T G 18: 35,312,880 (GRCm39) I244R possibly damaging Het
Dcxr T A 11: 120,617,130 (GRCm39) N105Y possibly damaging Het
Dnajc6 T C 4: 101,468,461 (GRCm39) F166L probably damaging Het
Ercc3 G A 18: 32,378,624 (GRCm39) A202T probably benign Het
Faf1 A G 4: 109,584,625 (GRCm39) D67G probably benign Het
Fancm G A 12: 65,171,718 (GRCm39) R1786H probably benign Het
Fnbp1 A G 2: 30,926,552 (GRCm39) probably null Het
Frem2 A G 3: 53,455,228 (GRCm39) L2116S possibly damaging Het
Gbp5 A G 3: 142,209,546 (GRCm39) E164G probably benign Het
Gm4922 A T 10: 18,660,007 (GRCm39) Y238* probably null Het
Gm8257 A G 14: 44,893,774 (GRCm39) Y62H probably damaging Het
Grin2b A G 6: 135,755,739 (GRCm39) F525S probably damaging Het
Hjv T G 3: 96,434,869 (GRCm39) S203A probably benign Het
Hsd17b3 C A 13: 64,210,984 (GRCm39) probably null Het
Ighv1-23 T A 12: 114,728,179 (GRCm39) Q81L probably benign Het
Inpp4b T C 8: 82,696,164 (GRCm39) V366A probably damaging Het
Jak1 G T 4: 101,036,791 (GRCm39) A283D possibly damaging Het
Kmt2d G T 15: 98,748,140 (GRCm39) probably benign Het
Mbtps1 A T 8: 120,262,086 (GRCm39) D354E probably damaging Het
Mettl17 T C 14: 52,126,246 (GRCm39) V218A probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Nfat5 C T 8: 108,093,855 (GRCm39) Q699* probably null Het
Or4s2b G A 2: 88,508,240 (GRCm39) V14I probably benign Het
Or4s2b T G 2: 88,508,523 (GRCm39) V101G probably benign Het
Or7e174 C A 9: 20,012,540 (GRCm39) H162N probably benign Het
Osbpl7 C A 11: 96,947,095 (GRCm39) S265R possibly damaging Het
Pcdh15 A G 10: 74,430,046 (GRCm39) T1258A probably damaging Het
Pcdh20 A T 14: 88,705,866 (GRCm39) L478Q probably damaging Het
Pde11a A G 2: 75,988,677 (GRCm39) V488A probably benign Het
Phactr1 A T 13: 43,248,441 (GRCm39) E463D probably benign Het
Phaf1 C A 8: 105,973,520 (GRCm39) N282K possibly damaging Het
Samd9l A T 6: 3,373,935 (GRCm39) Y1109N probably damaging Het
Samd9l GAA GAAA 6: 3,373,937 (GRCm39) probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpinb12 T A 1: 106,876,883 (GRCm39) D66E probably benign Het
Sgk2 G A 2: 162,836,674 (GRCm39) probably null Het
Slco1a6 C A 6: 142,047,378 (GRCm39) C404F probably benign Het
Spaca6 C T 17: 18,051,387 (GRCm39) A21V probably damaging Het
Sphkap G T 1: 83,256,782 (GRCm39) Y322* probably null Het
Sptlc3 G A 2: 139,478,600 (GRCm39) V520I probably benign Het
Stox2 A G 8: 47,645,970 (GRCm39) S497P probably damaging Het
Syt9 A T 7: 107,035,594 (GRCm39) K204* probably null Het
Taf3 A G 2: 9,957,468 (GRCm39) V233A probably damaging Het
Tbccd1 T C 16: 22,637,285 (GRCm39) probably null Het
Tdrd5 T A 1: 156,111,944 (GRCm39) T479S probably benign Het
Tex10 T C 4: 48,452,946 (GRCm39) D671G probably benign Het
Tgtp2 T C 11: 48,949,811 (GRCm39) T254A probably damaging Het
Tmtc2 T C 10: 105,249,391 (GRCm39) Y114C probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ubac1 A T 2: 25,888,989 (GRCm39) I402N probably damaging Het
Zmat1 A T X: 133,873,694 (GRCm39) S566T probably damaging Homo
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
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
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'- TCATAAGCCAGAGACCCTGTG -3'
(R):5'- TCAAGTGCAAGGGTTTAGATGG -3'

Sequencing Primer
(F):5'- TGTGCAGGCTTCCCGACAC -3'
(R):5'- CAAGGGTTTAGATGGGGGCTC -3'
Posted On 2015-09-25