Incidental Mutation 'R5805:Celf2'
ID 501550
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 043212-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.462) question?
Stock # R5805 (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 6558598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 430 (E430G)
Ref Sequence ENSEMBL: ENSMUSP00000138355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002176] [ENSMUST00000100429] [ENSMUST00000114924] [ENSMUST00000114927] [ENSMUST00000114934] [ENSMUST00000142941] [ENSMUST00000150624] [ENSMUST00000170438] [ENSMUST00000182851] [ENSMUST00000182879] [ENSMUST00000183091] [ENSMUST00000183209] [ENSMUST00000183984] [ENSMUST00000182706] [ENSMUST00000182404]
AlphaFold Q9Z0H4
Predicted Effect possibly damaging
Transcript: ENSMUST00000002176
AA Change: E394G

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000002176
Gene: ENSMUSG00000002107
AA Change: E394G

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 possibly damaging
Transcript: ENSMUST00000100429
AA Change: E394G

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097996
Gene: ENSMUSG00000002107
AA Change: E394G

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 damaging
Transcript: ENSMUST00000114924
AA Change: E436G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110574
Gene: ENSMUSG00000002107
AA Change: E436G

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 damaging
Transcript: ENSMUST00000114927
AA Change: E398G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110577
Gene: ENSMUSG00000002107
AA Change: E398G

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 damaging
Transcript: ENSMUST00000114934
AA Change: E436G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110584
Gene: ENSMUSG00000002107
AA Change: E436G

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: E400G

PolyPhen 2 Score 0.318 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120459
Gene: ENSMUSG00000002107
AA Change: E400G

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 damaging
Transcript: ENSMUST00000150624
AA Change: E398G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138297
Gene: ENSMUSG00000002107
AA Change: E398G

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: ENSMUST00000182355
Predicted Effect probably damaging
Transcript: ENSMUST00000170438
AA Change: E436G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130829
Gene: ENSMUSG00000002107
AA Change: E436G

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 possibly damaging
Transcript: ENSMUST00000182851
AA Change: E418G

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138363
Gene: ENSMUSG00000002107
AA Change: E418G

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 damaging
Transcript: ENSMUST00000182879
AA Change: E398G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138359
Gene: ENSMUSG00000002107
AA Change: E398G

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 damaging
Transcript: ENSMUST00000183091
AA Change: E418G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138795
Gene: ENSMUSG00000002107
AA Change: E418G

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 damaging
Transcript: ENSMUST00000183209
AA Change: E430G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138355
Gene: ENSMUSG00000002107
AA Change: E430G

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: ENSMUST00000183984
SMART Domains Protein: ENSMUSP00000138974
Gene: ENSMUSG00000002107

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 damaging
Transcript: ENSMUST00000182706
AA Change: E430G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138764
Gene: ENSMUSG00000002107
AA Change: E430G

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: 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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 C T 11: 110,170,216 (GRCm39) C1293Y probably benign Het
Adam8 T A 7: 139,565,794 (GRCm39) D611V probably damaging Het
Arhgap33 T C 7: 30,225,839 (GRCm39) T576A probably benign Het
Atf7 A T 15: 102,466,022 (GRCm39) probably null Het
Baiap3 T A 17: 25,466,489 (GRCm39) T464S probably benign Het
Ccdc40 T C 11: 119,136,906 (GRCm39) probably null Het
Chia1 A G 3: 106,035,792 (GRCm39) T211A probably damaging Het
Ciz1 T C 2: 32,257,408 (GRCm39) F151S probably damaging Het
Dnm2 A G 9: 21,378,965 (GRCm39) T175A probably damaging Het
Doc2b A G 11: 75,663,364 (GRCm39) S363P probably damaging Het
Garem1 C T 18: 21,281,492 (GRCm39) R288H probably benign Het
Gpr132 G A 12: 112,816,416 (GRCm39) R137C probably damaging Het
Helz2 C A 2: 180,882,301 (GRCm39) C164F probably damaging Het
Itfg1 A T 8: 86,493,601 (GRCm39) S293T probably benign Het
Kcnn2 T A 18: 45,816,198 (GRCm39) D336E probably damaging Het
Kifc2 C T 15: 76,546,353 (GRCm39) A245V probably benign Het
Krt18 T A 15: 101,939,735 (GRCm39) I311N probably benign Het
Lypla1 T C 1: 4,900,517 (GRCm39) M7T possibly damaging Het
Mef2a T C 7: 66,901,416 (GRCm39) M285V possibly damaging Het
Micu1 A C 10: 59,663,128 (GRCm39) K353Q possibly damaging Het
Mpv17l A G 16: 13,760,013 (GRCm39) probably benign Het
Ntrk1 G A 3: 87,687,479 (GRCm39) R652W probably damaging Het
Or13a28 T A 7: 140,218,384 (GRCm39) F257I probably benign Het
Or13c7 T C 4: 43,855,152 (GRCm39) I281T probably benign Het
Or4c107 G A 2: 88,788,985 (GRCm39) M58I possibly damaging Het
Pcdh15 C A 10: 74,066,091 (GRCm39) T252K probably damaging Het
Pcsk5 T C 19: 17,434,193 (GRCm39) M1392V probably benign Het
Phf20 T A 2: 156,149,214 (GRCm39) V964E probably damaging Het
Pira13 G A 7: 3,825,622 (GRCm39) L416F probably benign Het
Plcg2 T C 8: 118,325,234 (GRCm39) probably null Het
Rnf10 A T 5: 115,382,127 (GRCm39) C693S probably benign Het
Rnf19b A G 4: 128,952,617 (GRCm39) Y185C probably damaging Het
Ros1 G T 10: 51,999,385 (GRCm39) D1167E probably damaging Het
Sidt2 G A 9: 45,853,497 (GRCm39) S701L probably damaging Het
Slc66a2 C T 18: 80,306,658 (GRCm39) P76L probably damaging Het
Spag1 T C 15: 36,200,430 (GRCm39) I345T probably damaging Het
Srcap T A 7: 127,141,211 (GRCm39) S1603T possibly damaging Het
Stag1 T A 9: 100,678,831 (GRCm39) Y251N probably damaging Het
Stxbp5 T C 10: 9,776,330 (GRCm39) N33S probably benign Het
Tnrc6a T C 7: 122,769,299 (GRCm39) L363P probably damaging Het
U2surp C T 9: 95,361,357 (GRCm39) R591H possibly damaging Het
Usf3 A G 16: 44,041,109 (GRCm39) N1863S possibly damaging Het
Vmn2r15 T C 5: 109,434,806 (GRCm39) I633V possibly damaging Het
Zfp979 T C 4: 147,698,067 (GRCm39) D214G 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
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
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'- TCCTGTCAACACCTGATAGATAAG -3'
(R):5'- CTCTGAATGGAGGACTTGGC -3'

Sequencing Primer
(F):5'- CACCTGATAGATAAGAACTTCGGGAC -3'
(R):5'- ATGGAGGACTTGGCGCCAC -3'
Posted On 2017-12-01