Incidental Mutation 'R5169:Nrde2'
ID 397464
Institutional Source Beutler Lab
Gene Symbol Nrde2
Ensembl Gene ENSMUSG00000021179
Gene Name nrde-2 necessary for RNA interference, domain containing
Synonyms
MMRRC Submission 042749-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5169 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 100125452-100159653 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 100129293 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021596]
AlphaFold Q80XC6
Predicted Effect probably null
Transcript: ENSMUST00000021596
SMART Domains Protein: ENSMUSP00000021596
Gene: ENSMUSG00000021179

DomainStartEndE-ValueType
low complexity region 85 107 N/A INTRINSIC
low complexity region 146 154 N/A INTRINSIC
Pfam:NRDE-2 318 658 1.2e-107 PFAM
Blast:HAT 765 800 2e-10 BLAST
Blast:HAT 802 841 3e-16 BLAST
Blast:HAT 986 1018 3e-10 BLAST
Blast:HAT 1075 1109 1e-14 BLAST
Blast:HAT 1111 1143 8e-15 BLAST
low complexity region 1154 1171 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223314
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,877,817 (GRCm38) Y964* probably null Het
Acsbg2 T C 17: 56,849,913 (GRCm38) K375R probably benign Het
Ago4 C A 4: 126,511,727 (GRCm38) R415L probably benign Het
AI481877 T A 4: 59,059,618 (GRCm38) Y1014F possibly damaging Het
Alpk1 A T 3: 127,671,101 (GRCm38) I1176N probably damaging Het
Arhgap25 A T 6: 87,463,270 (GRCm38) I465N possibly damaging Het
Arhgef10 A G 8: 14,930,051 (GRCm38) D97G possibly damaging Het
Cdc37 T A 9: 21,141,117 (GRCm38) M299L probably benign Het
Ddx54 C A 5: 120,623,263 (GRCm38) H453Q probably damaging Het
Dip2b T C 15: 100,205,113 (GRCm38) Y1102H probably damaging Het
Dmpk C G 7: 19,088,019 (GRCm38) L301V probably benign Het
Dopey1 T C 9: 86,533,021 (GRCm38) F1939L probably damaging Het
Igkv4-80 A C 6: 69,016,665 (GRCm38) S81A probably benign Het
Ints7 T C 1: 191,613,090 (GRCm38) F631L probably benign Het
Itih1 A T 14: 30,933,446 (GRCm38) Y597* probably null Het
Kctd1 T C 18: 15,062,765 (GRCm38) E267G possibly damaging Het
Lrrc8e A G 8: 4,234,329 (GRCm38) T185A probably benign Het
Masp2 T C 4: 148,606,114 (GRCm38) I276T probably damaging Het
Med17 A T 9: 15,277,604 (GRCm38) F122I probably benign Het
Milr1 C T 11: 106,754,928 (GRCm38) R99* probably null Het
Mpp4 T C 1: 59,130,097 (GRCm38) probably null Het
Ms4a4d C T 19: 11,557,976 (GRCm38) P213S possibly damaging Het
Mtcl1 T C 17: 66,343,823 (GRCm38) N1100S probably benign Het
Myom3 T C 4: 135,775,578 (GRCm38) I322T probably benign Het
Nav2 C T 7: 49,548,483 (GRCm38) Q1287* probably null Het
Nr3c2 A T 8: 76,909,037 (GRCm38) N256Y probably damaging Het
Otog G T 7: 46,298,148 (GRCm38) A2242S probably benign Het
Otx1 C A 11: 21,997,037 (GRCm38) A91S probably damaging Het
Pcdh18 T C 3: 49,755,966 (GRCm38) D300G possibly damaging Het
Pcdh8 G A 14: 79,767,655 (GRCm38) P880S probably benign Het
Pcid2 A G 8: 13,079,632 (GRCm38) probably null Het
Phkb A G 8: 85,896,491 (GRCm38) H148R probably benign Het
Pik3r4 T C 9: 105,678,161 (GRCm38) S1106P probably benign Het
Pnpla7 A T 2: 25,050,309 (GRCm38) M1067L probably benign Het
Pp2d1 C A 17: 53,507,902 (GRCm38) G598V possibly damaging Het
Ppm1d C T 11: 85,332,370 (GRCm38) A267V probably damaging Het
Psg29 C T 7: 17,211,653 (GRCm38) P383S probably damaging Het
Rc3h2 A T 2: 37,405,312 (GRCm38) F231I probably damaging Het
Rpl14 T A 9: 120,572,188 (GRCm38) D32E possibly damaging Het
Rpl32 G T 6: 115,806,988 (GRCm38) N92K probably benign Het
Rragc A G 4: 123,935,664 (GRCm38) N391S probably damaging Het
Ryr3 C T 2: 112,670,660 (GRCm38) E3563K possibly damaging Het
Sh3rf2 A G 18: 42,153,061 (GRCm38) M508V probably benign Het
Slc24a3 G A 2: 145,640,264 (GRCm38) C614Y probably benign Het
Spata31d1b T C 13: 59,716,495 (GRCm38) S486P probably damaging Het
Spi1 A T 2: 91,115,083 (GRCm38) K170* probably null Het
Srgn C A 10: 62,495,087 (GRCm38) D80Y probably damaging Het
St6galnac6 A G 2: 32,614,845 (GRCm38) K87R possibly damaging Het
Sytl3 A T 17: 6,715,546 (GRCm38) K134* probably null Het
Szt2 T C 4: 118,389,830 (GRCm38) T863A probably benign Het
Tcea3 A T 4: 136,264,870 (GRCm38) probably null Het
Tg T A 15: 66,678,780 (GRCm38) L253* probably null Het
Timm8a2 T A 14: 122,034,726 (GRCm38) S14T probably benign Het
Tmem57 T C 4: 134,828,463 (GRCm38) H233R probably benign Het
Tppp3 G C 8: 105,467,869 (GRCm38) N166K probably benign Het
Trav2 G A 14: 52,567,302 (GRCm38) V4M probably benign Het
Trmt5 T C 12: 73,282,721 (GRCm38) D221G probably damaging Het
Ttc27 T A 17: 74,747,695 (GRCm38) L332* probably null Het
V1rd19 A G 7: 24,003,784 (GRCm38) N225S possibly damaging Het
Wdr20rt A T 12: 65,227,410 (GRCm38) Q448L probably damaging Het
Zc3h7b A T 15: 81,773,314 (GRCm38) N185I probably benign Het
Zmpste24 A T 4: 121,068,717 (GRCm38) I351N probably damaging Het
Other mutations in Nrde2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02207:Nrde2 APN 12 100,130,931 (GRCm38) missense probably benign 0.01
IGL02697:Nrde2 APN 12 100,131,207 (GRCm38) missense probably damaging 1.00
IGL02798:Nrde2 APN 12 100,143,822 (GRCm38) nonsense probably null
IGL02810:Nrde2 APN 12 100,143,758 (GRCm38) missense possibly damaging 0.81
IGL02814:Nrde2 APN 12 100,144,135 (GRCm38) missense probably null 0.80
IGL02990:Nrde2 APN 12 100,142,096 (GRCm38) missense probably damaging 1.00
kurtz UTSW 12 100,134,405 (GRCm38) missense possibly damaging 0.92
R0090:Nrde2 UTSW 12 100,129,286 (GRCm38) splice site probably benign
R0576:Nrde2 UTSW 12 100,132,233 (GRCm38) missense possibly damaging 0.82
R0646:Nrde2 UTSW 12 100,143,846 (GRCm38) nonsense probably null
R1130:Nrde2 UTSW 12 100,125,670 (GRCm38) missense probably damaging 0.97
R1216:Nrde2 UTSW 12 100,149,810 (GRCm38) splice site probably benign
R1661:Nrde2 UTSW 12 100,149,860 (GRCm38) missense probably benign 0.19
R2069:Nrde2 UTSW 12 100,142,232 (GRCm38) missense probably damaging 1.00
R4405:Nrde2 UTSW 12 100,130,584 (GRCm38) missense probably benign 0.01
R4422:Nrde2 UTSW 12 100,146,027 (GRCm38) nonsense probably null
R5200:Nrde2 UTSW 12 100,130,497 (GRCm38) missense possibly damaging 0.77
R5338:Nrde2 UTSW 12 100,130,778 (GRCm38) missense probably damaging 1.00
R5512:Nrde2 UTSW 12 100,142,250 (GRCm38) missense probably benign 0.20
R5820:Nrde2 UTSW 12 100,132,287 (GRCm38) missense probably benign 0.00
R6019:Nrde2 UTSW 12 100,132,242 (GRCm38) missense probably benign 0.04
R6346:Nrde2 UTSW 12 100,132,306 (GRCm38) missense probably benign 0.01
R6378:Nrde2 UTSW 12 100,130,757 (GRCm38) missense probably damaging 0.99
R6479:Nrde2 UTSW 12 100,143,948 (GRCm38) missense probably benign 0.00
R6523:Nrde2 UTSW 12 100,134,405 (GRCm38) missense possibly damaging 0.92
R7073:Nrde2 UTSW 12 100,132,488 (GRCm38) missense probably benign 0.00
R7220:Nrde2 UTSW 12 100,130,919 (GRCm38) missense probably benign 0.05
R7412:Nrde2 UTSW 12 100,142,250 (GRCm38) nonsense probably null
R7505:Nrde2 UTSW 12 100,132,498 (GRCm38) missense probably benign 0.15
R7699:Nrde2 UTSW 12 100,130,835 (GRCm38) missense probably benign 0.16
R7700:Nrde2 UTSW 12 100,130,835 (GRCm38) missense probably benign 0.16
R7733:Nrde2 UTSW 12 100,144,140 (GRCm38) missense possibly damaging 0.92
R7868:Nrde2 UTSW 12 100,131,187 (GRCm38) missense possibly damaging 0.65
R7963:Nrde2 UTSW 12 100,149,868 (GRCm38) missense probably damaging 0.99
R8131:Nrde2 UTSW 12 100,142,243 (GRCm38) missense probably benign 0.02
R8213:Nrde2 UTSW 12 100,131,003 (GRCm38) missense probably benign
R9061:Nrde2 UTSW 12 100,143,864 (GRCm38) missense probably benign 0.00
R9142:Nrde2 UTSW 12 100,151,259 (GRCm38) missense probably benign 0.15
R9371:Nrde2 UTSW 12 100,126,218 (GRCm38) missense probably benign 0.09
R9412:Nrde2 UTSW 12 100,130,422 (GRCm38) nonsense probably null
R9468:Nrde2 UTSW 12 100,140,009 (GRCm38) missense probably benign 0.00
R9542:Nrde2 UTSW 12 100,144,167 (GRCm38) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TTCTTCCAAACATCCTGAAAGAGG -3'
(R):5'- GAAGTATGTCTTCCCGCTGG -3'

Sequencing Primer
(F):5'- AGAGGAGACACCGCTCAGTC -3'
(R):5'- TCGGGCACAGAACCTGTCTTAG -3'
Posted On 2016-07-06