Incidental Mutation 'IGL02890:Nrbp2'
ID 363135
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nrbp2
Ensembl Gene ENSMUSG00000075590
Gene Name nuclear receptor binding protein 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02890
Quality Score
Status
Chromosome 15
Chromosomal Location 75957367-75963476 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 75961306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 272 (L272M)
Ref Sequence ENSEMBL: ENSMUSP00000154287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019516] [ENSMUST00000226444] [ENSMUST00000227605] [ENSMUST00000228366]
AlphaFold Q91V36
Predicted Effect probably damaging
Transcript: ENSMUST00000019516
AA Change: L31M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226356
Predicted Effect probably benign
Transcript: ENSMUST00000226444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227033
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227183
Predicted Effect probably benign
Transcript: ENSMUST00000227605
Predicted Effect probably damaging
Transcript: ENSMUST00000228366
AA Change: L272M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000228419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227646
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 A T 8: 41,278,190 (GRCm39) I194L probably benign Het
Akirin1 A G 4: 123,631,855 (GRCm39) V171A probably damaging Het
Camk2b A T 11: 5,951,340 (GRCm39) D91E possibly damaging Het
Ccser1 A G 6: 62,356,815 (GRCm39) D751G probably damaging Het
D6Wsu163e G A 6: 126,951,450 (GRCm39) G500D probably damaging Het
Dchs1 G T 7: 105,405,698 (GRCm39) D2395E probably damaging Het
Entrep3 A T 3: 89,094,089 (GRCm39) T223S possibly damaging Het
Fat3 T C 9: 15,826,636 (GRCm39) T4439A probably benign Het
Fn1 A G 1: 71,637,531 (GRCm39) probably null Het
Galnt14 A C 17: 73,816,519 (GRCm39) probably null Het
Gemin4 A C 11: 76,102,090 (GRCm39) S890R probably damaging Het
Glrp1 T A 1: 88,437,510 (GRCm39) probably null Het
Grik1 A G 16: 87,693,690 (GRCm39) probably benign Het
H2bc14 G T 13: 21,906,356 (GRCm39) R30L probably benign Het
Hspa12a C T 19: 58,809,431 (GRCm39) probably null Het
Hykk C T 9: 54,827,995 (GRCm39) P78L probably benign Het
Kctd13 G A 7: 126,529,903 (GRCm39) G115R probably benign Het
Kctd16 A G 18: 40,390,080 (GRCm39) probably benign Het
Ltn1 C T 16: 87,206,185 (GRCm39) probably null Het
Mat2a A G 6: 72,413,229 (GRCm39) L167P probably damaging Het
Myo6 A G 9: 80,173,456 (GRCm39) E532G probably damaging Het
Nrdc A G 4: 108,911,116 (GRCm39) D790G possibly damaging Het
Or4e5 T A 14: 52,728,368 (GRCm39) T18S probably benign Het
Or5k16 T C 16: 58,736,737 (GRCm39) D89G probably benign Het
Or8g26 T C 9: 39,095,564 (GRCm39) L27P probably damaging Het
Pcdh10 A T 3: 45,347,052 (GRCm39) H949L probably damaging Het
Pikfyve A G 1: 65,269,956 (GRCm39) Y547C probably benign Het
Pkhd1 A T 1: 20,431,235 (GRCm39) V2392D probably damaging Het
Ppp1r3g A T 13: 36,153,314 (GRCm39) T245S probably damaging Het
Prkaa1 A G 15: 5,206,567 (GRCm39) N439S possibly damaging Het
Radil A G 5: 142,529,463 (GRCm39) Y78H probably damaging Het
Ric8b A T 10: 84,837,731 (GRCm39) M513L possibly damaging Het
Slc4a10 T C 2: 62,117,260 (GRCm39) S740P probably damaging Het
Slc5a12 T C 2: 110,454,478 (GRCm39) probably benign Het
Smg1 G A 7: 117,784,724 (GRCm39) probably benign Het
Spef2 C T 15: 9,748,853 (GRCm39) M1I probably null Het
Tmc5 A T 7: 118,244,653 (GRCm39) probably benign Het
Tpp2 C T 1: 44,038,850 (GRCm39) A1132V probably damaging Het
Ttll4 A T 1: 74,726,498 (GRCm39) K699* probably null Het
Other mutations in Nrbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4377001:Nrbp2 UTSW 15 75,958,945 (GRCm39) missense probably benign 0.00
R0513:Nrbp2 UTSW 15 75,960,825 (GRCm39) missense probably benign 0.05
R0704:Nrbp2 UTSW 15 75,960,801 (GRCm39) missense probably damaging 0.99
R5748:Nrbp2 UTSW 15 75,961,332 (GRCm39) missense probably damaging 1.00
R6848:Nrbp2 UTSW 15 75,963,332 (GRCm39) unclassified probably benign
R7634:Nrbp2 UTSW 15 75,959,257 (GRCm39) missense possibly damaging 0.79
R7699:Nrbp2 UTSW 15 75,962,746 (GRCm39) missense probably damaging 1.00
R7700:Nrbp2 UTSW 15 75,962,746 (GRCm39) missense probably damaging 1.00
R9476:Nrbp2 UTSW 15 75,961,626 (GRCm39) missense probably damaging 0.99
Z1177:Nrbp2 UTSW 15 75,962,104 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18