Incidental Mutation 'R3082:Cpsf2'
ID 265500
Institutional Source Beutler Lab
Gene Symbol Cpsf2
Ensembl Gene ENSMUSG00000041781
Gene Name cleavage and polyadenylation specific factor 2
Synonyms 100kDa, Cpsf, 2610024B04Rik
MMRRC Submission 040572-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R3082 (G1)
Quality Score 103
Status Validated
Chromosome 12
Chromosomal Location 101942247-101972683 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 101955069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 280 (S280C)
Ref Sequence ENSEMBL: ENSMUSP00000047797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047357]
AlphaFold O35218
Predicted Effect probably damaging
Transcript: ENSMUST00000047357
AA Change: S280C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047797
Gene: ENSMUSG00000041781
AA Change: S280C

DomainStartEndE-ValueType
Lactamase_B 17 223 5.22e-1 SMART
Beta-Casp 243 368 1.8e-21 SMART
coiled coil region 380 418 N/A INTRINSIC
Pfam:RMMBL 527 569 1.2e-14 PFAM
Pfam:CPSF100_C 608 779 5.7e-46 PFAM
Meta Mutation Damage Score 0.5736 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 A G 10: 106,859,576 (GRCm39) V341A possibly damaging Het
Adam11 T C 11: 102,660,943 (GRCm39) probably benign Het
Aox1 G T 1: 58,322,759 (GRCm39) probably benign Het
Cdh6 T C 15: 13,044,838 (GRCm39) D428G probably damaging Het
Cep63 T C 9: 102,479,696 (GRCm39) T339A probably benign Het
Clcn1 T C 6: 42,267,112 (GRCm39) Y66H probably damaging Het
Dcaf6 G T 1: 165,250,421 (GRCm39) probably benign Het
Ddx39a T A 8: 84,449,335 (GRCm39) N344K possibly damaging Het
Dvl1 T C 4: 155,932,316 (GRCm39) V42A possibly damaging Het
Ep400 A G 5: 110,841,096 (GRCm39) probably benign Het
Epb41l5 C T 1: 119,536,992 (GRCm39) V300I probably damaging Het
Fbln1 T G 15: 85,149,454 (GRCm39) I617S probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Grin3a G A 4: 49,665,243 (GRCm39) R1131W probably benign Het
Incenp T A 19: 9,861,143 (GRCm39) M480L unknown Het
Ints13 G T 6: 146,476,205 (GRCm39) Q99K possibly damaging Het
L2hgdh C T 12: 69,768,858 (GRCm39) D85N probably benign Het
Lct A G 1: 128,215,345 (GRCm39) Y1744H probably damaging Het
Macf1 T C 4: 123,255,236 (GRCm39) probably null Het
Mpdz A T 4: 81,203,695 (GRCm39) probably benign Het
Naa15 T C 3: 51,367,471 (GRCm39) L498P probably damaging Het
Naip6 T A 13: 100,452,925 (GRCm39) E45D probably benign Het
Nedd4l T A 18: 65,312,049 (GRCm39) N405K probably benign Het
Or4l15 A G 14: 50,198,161 (GRCm39) Y123H probably damaging Het
Or8u10 C T 2: 85,916,053 (GRCm39) V23I probably benign Het
Pitpnc1 A G 11: 107,103,350 (GRCm39) S250P possibly damaging Het
Ppp1r18 A G 17: 36,184,742 (GRCm39) D131G probably damaging Het
Prdm5 A G 6: 65,913,069 (GRCm39) D206G probably damaging Het
Pygl A G 12: 70,244,303 (GRCm39) F455S probably damaging Het
Rictor A T 15: 6,804,338 (GRCm39) Y565F probably benign Het
Ryr1 T C 7: 28,745,071 (GRCm39) N3852D probably damaging Het
S1pr5 A T 9: 21,156,286 (GRCm39) C47S probably damaging Het
Serpinf2 T C 11: 75,328,354 (GRCm39) R65G probably benign Het
Slfn14 C T 11: 83,167,519 (GRCm39) W665* probably null Het
Smu1 T C 4: 40,745,567 (GRCm39) D251G probably damaging Het
Spata18 A G 5: 73,836,423 (GRCm39) probably benign Het
Tex19.2 A G 11: 121,007,557 (GRCm39) V297A probably benign Het
Tmem131l A G 3: 83,816,457 (GRCm39) probably null Het
Trim9 T C 12: 70,301,887 (GRCm39) R584G possibly damaging Het
Trpm7 A T 2: 126,686,342 (GRCm39) N295K possibly damaging Het
Ugt2a3 A G 5: 87,473,534 (GRCm39) V461A probably benign Het
Vmn1r45 A T 6: 89,910,724 (GRCm39) M82K probably benign Het
Other mutations in Cpsf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Cpsf2 APN 12 101,949,725 (GRCm39) missense probably damaging 1.00
IGL01114:Cpsf2 APN 12 101,956,098 (GRCm39) missense possibly damaging 0.93
IGL01121:Cpsf2 APN 12 101,954,965 (GRCm39) missense probably damaging 1.00
IGL01377:Cpsf2 APN 12 101,953,640 (GRCm39) splice site probably null
IGL01465:Cpsf2 APN 12 101,963,592 (GRCm39) missense probably damaging 1.00
IGL02861:Cpsf2 APN 12 101,965,825 (GRCm39) missense probably benign 0.00
R0469:Cpsf2 UTSW 12 101,955,045 (GRCm39) missense probably damaging 1.00
R0504:Cpsf2 UTSW 12 101,956,262 (GRCm39) missense probably damaging 1.00
R0510:Cpsf2 UTSW 12 101,955,045 (GRCm39) missense probably damaging 1.00
R0626:Cpsf2 UTSW 12 101,951,490 (GRCm39) missense probably benign 0.09
R0697:Cpsf2 UTSW 12 101,949,443 (GRCm39) missense probably benign 0.34
R0837:Cpsf2 UTSW 12 101,963,501 (GRCm39) splice site probably benign
R1475:Cpsf2 UTSW 12 101,951,495 (GRCm39) missense probably damaging 1.00
R1709:Cpsf2 UTSW 12 101,965,801 (GRCm39) missense probably damaging 1.00
R1974:Cpsf2 UTSW 12 101,956,306 (GRCm39) missense probably benign 0.33
R1996:Cpsf2 UTSW 12 101,964,867 (GRCm39) missense probably benign 0.18
R2063:Cpsf2 UTSW 12 101,949,722 (GRCm39) missense probably damaging 1.00
R2164:Cpsf2 UTSW 12 101,951,594 (GRCm39) missense probably damaging 1.00
R2228:Cpsf2 UTSW 12 101,956,088 (GRCm39) missense probably benign 0.00
R3732:Cpsf2 UTSW 12 101,953,567 (GRCm39) missense probably damaging 0.99
R3732:Cpsf2 UTSW 12 101,953,567 (GRCm39) missense probably damaging 0.99
R3733:Cpsf2 UTSW 12 101,953,567 (GRCm39) missense probably damaging 0.99
R4627:Cpsf2 UTSW 12 101,956,154 (GRCm39) missense probably benign 0.18
R4665:Cpsf2 UTSW 12 101,949,466 (GRCm39) missense probably damaging 1.00
R4666:Cpsf2 UTSW 12 101,949,466 (GRCm39) missense probably damaging 1.00
R4765:Cpsf2 UTSW 12 101,963,699 (GRCm39) missense probably damaging 1.00
R4777:Cpsf2 UTSW 12 101,963,091 (GRCm39) missense probably damaging 0.99
R4847:Cpsf2 UTSW 12 101,963,561 (GRCm39) missense probably benign 0.18
R4923:Cpsf2 UTSW 12 101,948,243 (GRCm39) missense probably benign
R4975:Cpsf2 UTSW 12 101,949,752 (GRCm39) missense probably damaging 1.00
R5239:Cpsf2 UTSW 12 101,953,532 (GRCm39) nonsense probably null
R5440:Cpsf2 UTSW 12 101,963,138 (GRCm39) missense probably benign
R5601:Cpsf2 UTSW 12 101,951,614 (GRCm39) splice site probably null
R5603:Cpsf2 UTSW 12 101,964,890 (GRCm39) missense probably benign 0.02
R5841:Cpsf2 UTSW 12 101,951,497 (GRCm39) missense probably damaging 0.99
R6153:Cpsf2 UTSW 12 101,965,619 (GRCm39) splice site probably null
R6663:Cpsf2 UTSW 12 101,965,852 (GRCm39) missense probably damaging 1.00
R7451:Cpsf2 UTSW 12 101,967,051 (GRCm39) missense possibly damaging 0.52
R8357:Cpsf2 UTSW 12 101,968,929 (GRCm39) missense probably damaging 0.99
R8457:Cpsf2 UTSW 12 101,968,929 (GRCm39) missense probably damaging 0.99
R9123:Cpsf2 UTSW 12 101,963,555 (GRCm39) missense probably damaging 0.96
R9433:Cpsf2 UTSW 12 101,948,252 (GRCm39) missense probably damaging 1.00
V8831:Cpsf2 UTSW 12 101,969,400 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGTCCTGGAAACGCTTCGG -3'
(R):5'- AGGGAAGAGCTCATTTCAAGAA -3'

Sequencing Primer
(F):5'- TTCGGGGCGACGGGAAC -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
Posted On 2015-02-05