Incidental Mutation 'IGL02810:Nrde2'
ID 360555
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nrde2
Ensembl Gene ENSMUSG00000021179
Gene Name nrde-2 necessary for RNA interference, domain containing
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02810
Quality Score
Status
Chromosome 12
Chromosomal Location 100125452-100159653 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100143758 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 338 (M338K)
Ref Sequence ENSEMBL: ENSMUSP00000021596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021596] [ENSMUST00000221954]
AlphaFold Q80XC6
Predicted Effect possibly damaging
Transcript: ENSMUST00000021596
AA Change: M338K

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021596
Gene: ENSMUSG00000021179
AA Change: M338K

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 probably benign
Transcript: ENSMUST00000221954
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,101,535 K1491E probably damaging Het
Abi3bp T C 16: 56,677,775 S696P probably damaging Het
Ago1 A G 4: 126,443,093 V273A probably benign Het
Bbs2 A G 8: 94,086,911 Y213H probably benign Het
Car10 T A 11: 93,578,696 Y142N probably damaging Het
Ccdc130 A G 8: 84,264,368 probably benign Het
Eml6 T C 11: 29,849,016 K415E possibly damaging Het
Exoc3l A T 8: 105,295,348 I41N probably damaging Het
Fam214b C A 4: 43,034,429 V389F probably damaging Het
Fat3 T C 9: 16,376,850 D459G probably damaging Het
Gabbr1 T C 17: 37,062,762 F401L probably damaging Het
Galnt10 G A 11: 57,725,586 R109Q probably damaging Het
Gpr108 C T 17: 57,242,742 D265N probably benign Het
Helb T C 10: 120,091,703 N834S possibly damaging Het
Igkv8-30 A G 6: 70,117,358 V23A probably benign Het
Iqck A T 7: 118,971,439 K271N possibly damaging Het
Klhl17 T C 4: 156,234,057 E36G possibly damaging Het
Klrb1b A G 6: 128,818,467 probably null Het
Mybl1 T C 1: 9,678,388 T328A probably benign Het
Mybl1 G A 1: 9,673,115 P571S probably damaging Het
Nav3 A T 10: 109,816,274 D873E probably damaging Het
Nms T C 1: 38,948,644 Y147H possibly damaging Het
Oasl2 T A 5: 114,897,791 F43I probably damaging Het
Oxr1 G A 15: 41,813,583 V91I probably benign Het
Pcnx2 C T 8: 125,887,203 C503Y probably benign Het
Polr2m A T 9: 71,483,566 I14K probably benign Het
Ppara T C 15: 85,777,677 S40P probably damaging Het
Shisa6 T A 11: 66,224,948 T288S possibly damaging Het
Slc26a5 T C 5: 21,813,383 probably benign Het
Spag1 A G 15: 36,234,547 N818D probably damaging Het
Srcap T C 7: 127,521,663 probably null Het
Tctn1 C T 5: 122,242,601 probably null Het
Triobp A G 15: 79,002,203 N507S possibly damaging Het
Ugt2b34 C A 5: 86,906,524 V133L probably benign Het
Zcchc6 A G 13: 59,782,016 probably null Het
Other mutations in Nrde2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02207:Nrde2 APN 12 100130931 missense probably benign 0.01
IGL02697:Nrde2 APN 12 100131207 missense probably damaging 1.00
IGL02798:Nrde2 APN 12 100143822 nonsense probably null
IGL02814:Nrde2 APN 12 100144135 missense probably null 0.80
IGL02990:Nrde2 APN 12 100142096 missense probably damaging 1.00
kurtz UTSW 12 100134405 missense possibly damaging 0.92
R0090:Nrde2 UTSW 12 100129286 splice site probably benign
R0576:Nrde2 UTSW 12 100132233 missense possibly damaging 0.82
R0646:Nrde2 UTSW 12 100143846 nonsense probably null
R1130:Nrde2 UTSW 12 100125670 missense probably damaging 0.97
R1216:Nrde2 UTSW 12 100149810 splice site probably benign
R1661:Nrde2 UTSW 12 100149860 missense probably benign 0.19
R2069:Nrde2 UTSW 12 100142232 missense probably damaging 1.00
R4405:Nrde2 UTSW 12 100130584 missense probably benign 0.01
R4422:Nrde2 UTSW 12 100146027 nonsense probably null
R5169:Nrde2 UTSW 12 100129293 critical splice donor site probably null
R5200:Nrde2 UTSW 12 100130497 missense possibly damaging 0.77
R5338:Nrde2 UTSW 12 100130778 missense probably damaging 1.00
R5512:Nrde2 UTSW 12 100142250 missense probably benign 0.20
R5820:Nrde2 UTSW 12 100132287 missense probably benign 0.00
R6019:Nrde2 UTSW 12 100132242 missense probably benign 0.04
R6346:Nrde2 UTSW 12 100132306 missense probably benign 0.01
R6378:Nrde2 UTSW 12 100130757 missense probably damaging 0.99
R6479:Nrde2 UTSW 12 100143948 missense probably benign 0.00
R6523:Nrde2 UTSW 12 100134405 missense possibly damaging 0.92
R7073:Nrde2 UTSW 12 100132488 missense probably benign 0.00
R7220:Nrde2 UTSW 12 100130919 missense probably benign 0.05
R7412:Nrde2 UTSW 12 100142250 nonsense probably null
R7505:Nrde2 UTSW 12 100132498 missense probably benign 0.15
R7699:Nrde2 UTSW 12 100130835 missense probably benign 0.16
R7700:Nrde2 UTSW 12 100130835 missense probably benign 0.16
R7733:Nrde2 UTSW 12 100144140 missense possibly damaging 0.92
R7868:Nrde2 UTSW 12 100131187 missense possibly damaging 0.65
R7963:Nrde2 UTSW 12 100149868 missense probably damaging 0.99
R8131:Nrde2 UTSW 12 100142243 missense probably benign 0.02
R8213:Nrde2 UTSW 12 100131003 missense probably benign
R9061:Nrde2 UTSW 12 100143864 missense probably benign 0.00
R9142:Nrde2 UTSW 12 100151259 missense probably benign 0.15
R9371:Nrde2 UTSW 12 100126218 missense probably benign 0.09
R9412:Nrde2 UTSW 12 100130422 nonsense probably null
Posted On 2015-12-18