Incidental Mutation 'R8008:Nr0b2'
ID 616735
Institutional Source Beutler Lab
Gene Symbol Nr0b2
Ensembl Gene ENSMUSG00000037583
Gene Name nuclear receptor subfamily 0, group B, member 2
Synonyms SHP-1, small heterodimer partner, SHP
MMRRC Submission 046048-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8008 (G1)
Quality Score 218.009
Status Not validated
Chromosome 4
Chromosomal Location 133280687-133283847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 133283339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 192 (A192E)
Ref Sequence ENSEMBL: ENSMUSP00000039175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042706]
AlphaFold Q62227
PDB Structure Mouse SF-1 LBD [X-RAY DIFFRACTION]
Crystal Structure of SHP/EID1 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000042706
AA Change: A192E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039175
Gene: ENSMUSG00000037583
AA Change: A192E

DomainStartEndE-ValueType
HOLI 60 231 1.08e-17 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the nuclear hormone receptor family of proteins. The encoded orphan receptor lacks a DNA binding domain but modulates gene expression by interacting with other hormone receptors to competitively inhibit binding of coactivators while also acting as a transcriptional corepressor. The encoded receptor may regulate bile acid synthesis and sexual maturation in males. Homozygous knockout mice exhibit accumulation of bile acids, reduced levels of low density lipoprotein cholesterol (LDL-C), and in male mice, earlier testicular maturation. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile and exhibit no major defects in cholesterol metabolism under normal conditions. Under high cholesterol and cholic acid or iodine-deficient diets, mice exhibit decreased lipid levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,429,234 (GRCm39) I774F probably benign Het
Alpi A G 1: 87,026,384 (GRCm39) S536P unknown Het
Ankar A G 1: 72,705,643 (GRCm39) V789A possibly damaging Het
Atp5f1b C A 10: 127,919,277 (GRCm39) Q28K unknown Het
Brpf1 T C 6: 113,296,050 (GRCm39) V781A probably benign Het
Cd177 G A 7: 24,451,774 (GRCm39) S414L not run Het
Cimip3 T A 17: 47,747,661 (GRCm39) E28V probably damaging Het
Clca3b T A 3: 144,550,370 (GRCm39) T192S probably benign Het
Coro2a A T 4: 46,551,349 (GRCm39) S119T probably damaging Het
Cpped1 T C 16: 11,646,260 (GRCm39) N164S probably damaging Het
Crybg2 T A 4: 133,818,415 (GRCm39) N1390K probably damaging Het
Epn2 C T 11: 61,437,492 (GRCm39) A27T probably damaging Het
Esp34 T C 17: 38,870,490 (GRCm39) F128S possibly damaging Het
Evpl T A 11: 116,121,298 (GRCm39) N410Y probably null Het
Flnb A G 14: 7,892,155 (GRCm38) Y608C probably damaging Het
Fpr3 T C 17: 18,191,715 (GRCm39) S329P probably benign Het
Frem2 T A 3: 53,560,331 (GRCm39) N1392I probably damaging Het
Garin2 T A 12: 78,761,817 (GRCm39) D160E probably benign Het
Gpi1 G T 7: 33,917,726 (GRCm39) N249K probably damaging Het
Gpr87 T C 3: 59,087,466 (GRCm39) N13S probably benign Het
Gys2 T C 6: 142,400,243 (GRCm39) T323A probably damaging Het
Iqgap3 T C 3: 88,016,770 (GRCm39) I1084T probably damaging Het
Lrfn4 C G 19: 4,663,565 (GRCm39) G323A probably benign Het
Lrrc4c A T 2: 97,460,594 (GRCm39) S407C possibly damaging Het
Map3k20 A T 2: 72,268,613 (GRCm39) Q540L probably benign Het
Myom1 T C 17: 71,407,057 (GRCm39) V1158A probably benign Het
Ncor2 T C 5: 125,144,983 (GRCm39) D378G unknown Het
Nhsl1 T A 10: 18,284,186 (GRCm39) D42E probably damaging Het
Nt5c1b A G 12: 10,425,000 (GRCm39) D182G possibly damaging Het
Or12d14-ps1 T C 17: 37,673,265 (GRCm39) S86P probably damaging Het
Or4c115 A T 2: 88,928,059 (GRCm39) C71S probably benign Het
Or5b119 T C 19: 13,457,170 (GRCm39) T131A probably benign Het
Or5k15 T C 16: 58,710,251 (GRCm39) T111A probably benign Het
Or8b12 A T 9: 37,658,089 (GRCm39) I220F probably damaging Het
Pepd A G 7: 34,721,126 (GRCm39) N250S probably benign Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Pmp22 C T 11: 63,049,233 (GRCm39) R159C probably damaging Het
Pou3f1 C T 4: 124,552,764 (GRCm39) A422V unknown Het
Rab11fip3 A G 17: 26,286,956 (GRCm39) L399P probably damaging Het
Rragc A G 4: 123,829,340 (GRCm39) D352G probably damaging Het
Ryr2 A G 13: 11,671,980 (GRCm39) V3420A probably benign Het
Sez6 T A 11: 77,864,082 (GRCm39) Y521* probably null Het
Smc4 T C 3: 68,914,645 (GRCm39) V86A probably damaging Het
Stap2 T A 17: 56,304,790 (GRCm39) M331L probably benign Het
Syt8 G A 7: 141,992,259 (GRCm39) R89H probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Trim21 G T 7: 102,209,183 (GRCm39) T280K probably benign Het
Trim36 C A 18: 46,305,556 (GRCm39) V476F probably benign Het
Troap G T 15: 98,973,511 (GRCm39) R56L probably benign Het
Ttn A T 2: 76,667,130 (GRCm39) I11492K unknown Het
Tuft1 T C 3: 94,521,440 (GRCm39) T390A probably damaging Het
Ucp1 T C 8: 84,020,640 (GRCm39) I150T probably benign Het
Usp17lb A T 7: 104,490,481 (GRCm39) C149S possibly damaging Het
Vmn1r159 A T 7: 22,542,665 (GRCm39) N122K possibly damaging Het
Vmn1r237 T C 17: 21,534,456 (GRCm39) C60R probably damaging Het
Wdr12 A T 1: 60,128,494 (GRCm39) Y85* probably null Het
Wdr3 T C 3: 100,062,252 (GRCm39) D221G probably benign Het
Wdr97 G A 15: 76,244,832 (GRCm39) E1125K Het
Zan T C 5: 137,403,624 (GRCm39) E3974G unknown Het
Other mutations in Nr0b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0166:Nr0b2 UTSW 4 133,281,049 (GRCm39) missense probably damaging 1.00
R0310:Nr0b2 UTSW 4 133,283,303 (GRCm39) splice site probably null
R0403:Nr0b2 UTSW 4 133,281,070 (GRCm39) missense probably damaging 1.00
R0759:Nr0b2 UTSW 4 133,281,049 (GRCm39) missense probably damaging 1.00
R0987:Nr0b2 UTSW 4 133,283,503 (GRCm39) missense probably benign 0.00
R1005:Nr0b2 UTSW 4 133,280,785 (GRCm39) missense probably benign 0.23
R4824:Nr0b2 UTSW 4 133,283,334 (GRCm39) missense probably damaging 1.00
R5281:Nr0b2 UTSW 4 133,283,335 (GRCm39) missense probably benign 0.01
R7942:Nr0b2 UTSW 4 133,280,847 (GRCm39) missense probably benign
R8263:Nr0b2 UTSW 4 133,281,241 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGTGAGCCAATGCATGTAACTC -3'
(R):5'- AGTTGAGGGCTGCCTTTCAG -3'

Sequencing Primer
(F):5'- CTCATTAGTGAAGGATCGCCTCAG -3'
(R):5'- CTTCAAGGAGTTCAGTGATGTCAACG -3'
Posted On 2020-01-23