Incidental Mutation 'R0919:U2af2'
ID 82776
Institutional Source Beutler Lab
Gene Symbol U2af2
Ensembl Gene ENSMUSG00000030435
Gene Name U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 2
Synonyms
MMRRC Submission 039069-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R0919 (G1)
Quality Score 206
Status Validated
Chromosome 7
Chromosomal Location 5065142-5082937 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 5072433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005041] [ENSMUST00000165399] [ENSMUST00000207097] [ENSMUST00000209099]
AlphaFold P26369
Predicted Effect probably benign
Transcript: ENSMUST00000005041
SMART Domains Protein: ENSMUSP00000005041
Gene: ENSMUSG00000030435

DomainStartEndE-ValueType
low complexity region 23 62 N/A INTRINSIC
PDB:1JMT|B 85 112 9e-13 PDB
RRM 150 227 1.26e-11 SMART
low complexity region 242 257 N/A INTRINSIC
RRM 260 333 8.64e-19 SMART
RRM 377 462 3.04e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165399
SMART Domains Protein: ENSMUSP00000131458
Gene: ENSMUSG00000030435

DomainStartEndE-ValueType
RRM 8 63 3.31e0 SMART
low complexity region 78 93 N/A INTRINSIC
RRM 96 169 8.64e-19 SMART
RRM 209 294 3.04e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207097
Predicted Effect probably benign
Transcript: ENSMUST00000207498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207926
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207960
Predicted Effect probably benign
Transcript: ENSMUST00000209099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208419
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 96% (43/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] U2 auxiliary factor (U2AF), comprised of a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the U2AF large subunit which contains a sequence-specific RNA-binding region with 3 RNA recognition motifs and an Arg/Ser-rich domain necessary for splicing. The large subunit binds to the polypyrimidine tract of introns early during spliceosome assembly. Multiple transcript variants have been detected for this gene, but the full-length natures of only two have been determined to date. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 C A 18: 65,440,544 (GRCm39) C283F probably benign Het
Anapc1 T C 2: 128,459,651 (GRCm39) R1803G probably benign Het
Anapc4 T C 5: 53,012,979 (GRCm39) V423A probably benign Het
Arfgef3 A G 10: 18,465,483 (GRCm39) I2120T possibly damaging Het
Btaf1 T A 19: 36,968,143 (GRCm39) H1109Q probably benign Het
Cfap418 A G 4: 10,882,462 (GRCm39) T124A probably benign Het
Cfap70 G A 14: 20,454,232 (GRCm39) P851S probably benign Het
Clcf1 T A 19: 4,272,252 (GRCm39) L103Q probably damaging Het
Col11a2 T A 17: 34,278,124 (GRCm39) V1032E possibly damaging Het
Cyp2c38 T G 19: 39,393,113 (GRCm39) D318A probably benign Het
Dbpht2 A G 12: 74,345,774 (GRCm39) noncoding transcript Het
Dhx34 A C 7: 15,935,883 (GRCm39) V893G probably damaging Het
Fsip2 T A 2: 82,815,828 (GRCm39) C3854S possibly damaging Het
Htr1a T C 13: 105,581,344 (GRCm39) Y195H probably damaging Het
Insr A G 8: 3,208,769 (GRCm39) S1231P probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Kpna4 A T 3: 68,993,161 (GRCm39) probably benign Het
Or52d13 A G 7: 103,110,019 (GRCm39) I132T probably damaging Het
Or52e8 A T 7: 104,624,519 (GRCm39) Y228* probably null Het
Or5m3 A G 2: 85,838,984 (GRCm39) Y288C possibly damaging Het
Osbpl7 G A 11: 96,946,927 (GRCm39) R239H possibly damaging Het
Prkce G A 17: 86,937,588 (GRCm39) V674I probably benign Het
Prkrip1 T C 5: 136,226,685 (GRCm39) M52V possibly damaging Het
Sash1 A G 10: 8,605,843 (GRCm39) M849T probably benign Het
Scaf8 T C 17: 3,247,395 (GRCm39) L906S probably damaging Het
Sfmbt2 T C 2: 10,582,382 (GRCm39) L676P probably benign Het
Sgsm1 C T 5: 113,406,708 (GRCm39) V923I probably damaging Het
Slc38a3 A T 9: 107,533,158 (GRCm39) L305Q probably damaging Het
Slc44a5 A G 3: 153,949,223 (GRCm39) Y232C probably damaging Het
Spag17 A T 3: 99,979,259 (GRCm39) probably benign Het
Synm T C 7: 67,385,095 (GRCm39) I414V probably damaging Het
Tbc1d12 C T 19: 38,902,493 (GRCm39) H551Y possibly damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Trpc7 C T 13: 56,970,462 (GRCm39) probably benign Het
Trpm7 G A 2: 126,673,158 (GRCm39) R532C probably damaging Het
Ttn T A 2: 76,777,086 (GRCm39) K1485* probably null Het
Txn2 T C 15: 77,811,949 (GRCm39) D69G probably damaging Het
Ubn1 T C 16: 4,882,255 (GRCm39) Y239H probably damaging Het
Ubtf A G 11: 102,200,603 (GRCm39) probably benign Het
Usp49 T A 17: 47,983,376 (GRCm39) V127D probably benign Het
Washc2 C T 6: 116,185,225 (GRCm39) R20W probably damaging Het
Zscan10 T C 17: 23,828,981 (GRCm39) S476P probably damaging Het
Other mutations in U2af2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03368:U2af2 APN 7 5,070,263 (GRCm39) splice site probably benign
IGL02980:U2af2 UTSW 7 5,071,042 (GRCm39) missense probably benign 0.37
R1768:U2af2 UTSW 7 5,070,544 (GRCm39) missense probably benign 0.00
R2228:U2af2 UTSW 7 5,078,672 (GRCm39) missense probably damaging 1.00
R2697:U2af2 UTSW 7 5,070,545 (GRCm39) missense probably benign 0.00
R3974:U2af2 UTSW 7 5,072,438 (GRCm39) splice site probably null
R5777:U2af2 UTSW 7 5,069,450 (GRCm39) missense probably benign 0.37
R5916:U2af2 UTSW 7 5,082,179 (GRCm39) critical splice acceptor site probably null
R6290:U2af2 UTSW 7 5,078,683 (GRCm39) missense probably benign
R6860:U2af2 UTSW 7 5,082,273 (GRCm39) missense possibly damaging 0.77
R7827:U2af2 UTSW 7 5,077,661 (GRCm39) critical splice donor site probably null
R8300:U2af2 UTSW 7 5,070,414 (GRCm39) intron probably benign
R8477:U2af2 UTSW 7 5,078,693 (GRCm39) missense probably benign 0.00
R8727:U2af2 UTSW 7 5,070,432 (GRCm39) intron probably benign
R8857:U2af2 UTSW 7 5,065,290 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTTTGCTACATTTGATAAACCAGCCCC -3'
(R):5'- TCAGAGTAGGCAGCACAGACCATC -3'

Sequencing Primer
(F):5'- cactctacttgttctgcctctc -3'
(R):5'- GACCATCCCTACTACCCCTTAC -3'
Posted On 2013-11-08