Incidental Mutation 'R1735:Xrn2'
ID 199613
Institutional Source Beutler Lab
Gene Symbol Xrn2
Ensembl Gene ENSMUSG00000027433
Gene Name 5'-3' exoribonuclease 2
Synonyms
MMRRC Submission 039767-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R1735 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 146854916-146919920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 146903343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 781 (L781Q)
Ref Sequence ENSEMBL: ENSMUSP00000028921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028921]
AlphaFold Q9DBR1
Predicted Effect probably damaging
Transcript: ENSMUST00000028921
AA Change: L781Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433
AA Change: L781Q

DomainStartEndE-ValueType
Pfam:XRN_N 1 254 1.5e-104 PFAM
ZnF_C2HC 262 278 7.99e-1 SMART
low complexity region 415 427 N/A INTRINSIC
PDB:3FQD|A 469 785 8e-75 PDB
low complexity region 913 932 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137358
Coding Region Coverage
  • 1x: 97.6%
  • 3x: 97.0%
  • 10x: 95.3%
  • 20x: 92.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 5'-3' exonuclease that promotes transcription termination at cotranscriptional cleavage sites. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 A T 12: 84,122,261 (GRCm39) I282F probably benign Het
Adam19 C A 11: 46,029,744 (GRCm39) Q730K probably benign Het
Adgrv1 A G 13: 81,636,066 (GRCm39) V3481A possibly damaging Het
Akr1c20 T C 13: 4,537,207 (GRCm39) D316G probably benign Het
Ap3b1 G A 13: 94,630,225 (GRCm39) V827I unknown Het
Aph1a T A 3: 95,802,821 (GRCm39) D140E probably damaging Het
Arhgef19 G T 4: 140,976,929 (GRCm39) V502L possibly damaging Het
Arl9 T C 5: 77,154,473 (GRCm39) F67S probably damaging Het
B430305J03Rik G A 3: 61,271,361 (GRCm39) probably benign Het
B4galnt2 A G 11: 95,781,809 (GRCm39) F119L probably damaging Het
Bcap29 T A 12: 31,680,839 (GRCm39) N49I probably damaging Het
Capn11 T A 17: 45,943,327 (GRCm39) K616* probably null Het
Cdh12 T A 15: 21,520,452 (GRCm39) Y306N probably damaging Het
Cep350 T A 1: 155,828,960 (GRCm39) N315Y probably damaging Het
Cfap300 A C 9: 8,027,266 (GRCm39) S91A probably benign Het
Cited2 C A 10: 17,599,794 (GRCm39) P34Q probably damaging Het
Cmya5 A T 13: 93,226,297 (GRCm39) D2930E probably benign Het
Cog3 T A 14: 75,966,761 (GRCm39) K470* probably null Het
Commd10 A G 18: 47,123,552 (GRCm39) T136A probably benign Het
Csf2ra C A 19: 61,214,782 (GRCm39) D181Y probably damaging Het
Csmd1 T A 8: 15,982,610 (GRCm39) I2686F probably damaging Het
Dhx29 T C 13: 113,081,620 (GRCm39) S415P probably benign Het
Dsel A T 1: 111,788,645 (GRCm39) F630Y probably damaging Het
Ell T A 8: 71,031,590 (GRCm39) I96N possibly damaging Het
Ephx2 T A 14: 66,325,752 (GRCm39) I358L probably benign Het
Fam162b A G 10: 51,463,307 (GRCm39) I120T probably damaging Het
Fam187a T C 11: 102,776,606 (GRCm39) Y137H probably damaging Het
Fastk T C 5: 24,646,801 (GRCm39) E403G probably damaging Het
Fcrlb C A 1: 170,734,901 (GRCm39) V409F probably benign Het
Flot2 G T 11: 77,948,831 (GRCm39) A269S probably benign Het
Gpd2 T A 2: 57,245,563 (GRCm39) N419K probably damaging Het
Hecw1 A T 13: 14,552,350 (GRCm39) M61K probably null Het
Htr2a T C 14: 74,943,568 (GRCm39) F383L probably damaging Het
Kctd6 C T 14: 8,222,253 (GRCm38) R32C probably damaging Het
Khdc1a A G 1: 21,421,189 (GRCm39) T125A probably benign Het
Klhl40 T C 9: 121,609,004 (GRCm39) S390P probably benign Het
Lonp1 G A 17: 56,921,956 (GRCm39) T808I probably damaging Het
Loxhd1 A C 18: 77,492,585 (GRCm39) D1342A probably damaging Het
Lrat T C 3: 82,804,417 (GRCm39) I187V probably benign Het
Lrif1 T C 3: 106,643,162 (GRCm39) *238Q probably null Het
Lrp2bp T C 8: 46,465,025 (GRCm39) F48S probably benign Het
Mafg A G 11: 120,520,504 (GRCm39) M32T possibly damaging Het
Map4 C T 9: 109,864,023 (GRCm39) T416I probably benign Het
N4bp2 T C 5: 65,965,659 (GRCm39) F1236S probably damaging Het
Nfatc3 A G 8: 106,810,466 (GRCm39) D414G probably damaging Het
Nhsl3 G T 4: 129,117,370 (GRCm39) S476R probably damaging Het
Nrip2 T G 6: 128,382,037 (GRCm39) V50G probably damaging Het
Or10aa3 A T 1: 173,878,365 (GRCm39) K142I probably benign Het
Or10j5 A G 1: 172,784,374 (GRCm39) N4S probably benign Het
Or52ae7 T A 7: 103,119,353 (GRCm39) F36I possibly damaging Het
Or5b24 T A 19: 12,912,207 (GRCm39) I35N probably damaging Het
Pcdhb18 A T 18: 37,623,822 (GRCm39) H384L probably benign Het
Pik3r1 A T 13: 101,822,882 (GRCm39) Y607N probably damaging Het
Plagl2 G A 2: 153,074,397 (GRCm39) T168I probably damaging Het
Polr2a A G 11: 69,633,222 (GRCm39) S912P probably damaging Het
Ppp1r16b A G 2: 158,603,415 (GRCm39) K447E possibly damaging Het
Prkd1 T C 12: 50,388,822 (GRCm39) E907G possibly damaging Het
Rabep2 A G 7: 126,043,712 (GRCm39) R470G probably damaging Het
Rasal2 T C 1: 157,001,730 (GRCm39) Y518C probably damaging Het
Rbmxl1 A G 8: 79,232,711 (GRCm39) Y211H probably damaging Het
Rdh7 T C 10: 127,720,454 (GRCm39) Y306C probably benign Het
Rtn3 T C 19: 7,435,276 (GRCm39) I220V probably damaging Het
Scn8a A G 15: 100,913,742 (GRCm39) N1045D possibly damaging Het
Scube1 T C 15: 83,491,638 (GRCm39) H952R probably damaging Het
Sf3b1 A G 1: 55,039,811 (GRCm39) I690T probably damaging Het
Sharpin T C 15: 76,232,136 (GRCm39) K240R probably benign Het
Skint5 A G 4: 113,420,656 (GRCm39) I1108T unknown Het
Snip1 A G 4: 124,964,994 (GRCm39) D133G probably benign Het
St3gal3 T C 4: 117,871,971 (GRCm39) Y77C probably damaging Het
Sytl3 T C 17: 6,982,880 (GRCm39) V112A probably benign Het
Tnxb C T 17: 34,936,944 (GRCm39) P3718S probably damaging Het
Ttc24 A T 3: 87,980,401 (GRCm39) probably null Het
Ubr3 A T 2: 69,839,473 (GRCm39) E1529V probably damaging Het
Utrn T A 10: 12,585,882 (GRCm39) H965L probably benign Het
Zbtb11 T C 16: 55,811,045 (GRCm39) I401T probably benign Het
Zc3h14 C T 12: 98,724,839 (GRCm39) P167L probably damaging Het
Zfp609 G T 9: 65,610,374 (GRCm39) S863* probably null Het
Other mutations in Xrn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Xrn2 APN 2 146,878,670 (GRCm39) missense probably benign 0.00
IGL00950:Xrn2 APN 2 146,870,066 (GRCm39) nonsense probably null
IGL01323:Xrn2 APN 2 146,876,767 (GRCm39) splice site probably benign
IGL01328:Xrn2 APN 2 146,871,850 (GRCm39) missense possibly damaging 0.90
IGL01545:Xrn2 APN 2 146,880,099 (GRCm39) missense probably benign
IGL01729:Xrn2 APN 2 146,878,717 (GRCm39) critical splice donor site probably null
IGL01805:Xrn2 APN 2 146,870,063 (GRCm39) missense probably damaging 0.98
IGL02326:Xrn2 APN 2 146,889,633 (GRCm39) missense probably benign 0.32
IGL02332:Xrn2 APN 2 146,868,510 (GRCm39) missense probably damaging 1.00
IGL02556:Xrn2 APN 2 146,880,216 (GRCm39) splice site probably benign
IGL02609:Xrn2 APN 2 146,891,945 (GRCm39) missense probably benign 0.00
IGL02941:Xrn2 APN 2 146,868,444 (GRCm39) missense probably damaging 1.00
IGL03119:Xrn2 APN 2 146,884,792 (GRCm39) missense probably damaging 1.00
R0052:Xrn2 UTSW 2 146,882,885 (GRCm39) splice site probably benign
R0114:Xrn2 UTSW 2 146,871,699 (GRCm39) missense probably damaging 0.98
R0196:Xrn2 UTSW 2 146,889,580 (GRCm39) missense probably damaging 0.99
R0799:Xrn2 UTSW 2 146,871,818 (GRCm39) missense probably benign 0.03
R0991:Xrn2 UTSW 2 146,884,002 (GRCm39) missense probably benign 0.40
R1444:Xrn2 UTSW 2 146,903,408 (GRCm39) missense probably damaging 0.99
R1727:Xrn2 UTSW 2 146,903,436 (GRCm39) missense probably benign 0.00
R1885:Xrn2 UTSW 2 146,891,281 (GRCm39) nonsense probably null
R2199:Xrn2 UTSW 2 146,866,670 (GRCm39) missense probably damaging 0.96
R2884:Xrn2 UTSW 2 146,889,576 (GRCm39) missense probably damaging 1.00
R3730:Xrn2 UTSW 2 146,866,729 (GRCm39) missense probably benign 0.09
R3771:Xrn2 UTSW 2 146,903,207 (GRCm39) missense probably benign 0.12
R3772:Xrn2 UTSW 2 146,903,207 (GRCm39) missense probably benign 0.12
R3773:Xrn2 UTSW 2 146,903,207 (GRCm39) missense probably benign 0.12
R3816:Xrn2 UTSW 2 146,870,120 (GRCm39) missense probably damaging 1.00
R3927:Xrn2 UTSW 2 146,880,109 (GRCm39) missense probably benign
R4173:Xrn2 UTSW 2 146,889,612 (GRCm39) missense probably damaging 0.96
R4659:Xrn2 UTSW 2 146,903,394 (GRCm39) missense probably benign 0.01
R4928:Xrn2 UTSW 2 146,893,638 (GRCm39) missense possibly damaging 0.80
R5452:Xrn2 UTSW 2 146,866,633 (GRCm39) critical splice acceptor site probably null
R5527:Xrn2 UTSW 2 146,871,675 (GRCm39) missense probably benign 0.02
R6297:Xrn2 UTSW 2 146,868,490 (GRCm39) missense probably damaging 1.00
R6301:Xrn2 UTSW 2 146,905,262 (GRCm39) missense probably benign 0.05
R6316:Xrn2 UTSW 2 146,883,930 (GRCm39) missense probably damaging 1.00
R6705:Xrn2 UTSW 2 146,878,582 (GRCm39) critical splice acceptor site probably null
R7173:Xrn2 UTSW 2 146,884,013 (GRCm39) missense probably damaging 1.00
R7408:Xrn2 UTSW 2 146,884,017 (GRCm39) critical splice donor site probably null
R7412:Xrn2 UTSW 2 146,891,266 (GRCm39) missense probably damaging 0.99
R7501:Xrn2 UTSW 2 146,871,676 (GRCm39) missense probably damaging 1.00
R7856:Xrn2 UTSW 2 146,910,393 (GRCm39) splice site probably null
R8912:Xrn2 UTSW 2 146,891,913 (GRCm39) missense probably benign 0.04
R8969:Xrn2 UTSW 2 146,871,304 (GRCm39) missense probably damaging 1.00
R9083:Xrn2 UTSW 2 146,880,199 (GRCm39) missense probably damaging 1.00
R9179:Xrn2 UTSW 2 146,855,081 (GRCm39) missense probably benign 0.04
Z1177:Xrn2 UTSW 2 146,870,126 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- TCCCCTCATAGGTTGCtgtctttgtt -3'
(R):5'- GCGTGCTGTGTCGTCTCTTAAATATCT -3'

Sequencing Primer
(F):5'- GATCATTTACAGTTATCTAGAGCCTG -3'
(R):5'- AGCAGAAATACTGACTTGTTTATGG -3'
Posted On 2014-05-23