Incidental Mutation 'R0759:Nr0b2'
ID 69999
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 038939-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0759 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 133280687-133283847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 133281049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 105 (Q105L)
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 damaging
Transcript: ENSMUST00000042706
AA Change: Q105L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039175
Gene: ENSMUSG00000037583
AA Change: Q105L

DomainStartEndE-ValueType
HOLI 60 231 1.08e-17 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.4%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,384,454 (GRCm39) F504I possibly damaging Het
Amdhd2 C A 17: 24,380,587 (GRCm39) C119F probably benign Het
Arhgef18 T G 8: 3,438,822 (GRCm39) probably benign Het
Bsph2 A T 7: 13,290,652 (GRCm39) Y76N probably damaging Het
C1s1 T C 6: 124,508,396 (GRCm39) N531S probably damaging Het
Ces1c G A 8: 93,857,492 (GRCm39) Q30* probably null Het
Cltc A C 11: 86,627,908 (GRCm39) I80S probably null Het
Colec11 A G 12: 28,644,730 (GRCm39) S249P probably damaging Het
Cxcl16 C T 11: 70,349,954 (GRCm39) C24Y probably damaging Het
Dennd4c A G 4: 86,707,066 (GRCm39) I348V probably damaging Het
Elavl1 C A 8: 4,339,815 (GRCm39) D256Y probably damaging Het
Fubp1 TGGCGGCGGCGGCGGCGG TGGCGGCGGCGGCGGCGGCGG 3: 151,916,274 (GRCm39) probably benign Het
Gm43434 T G 14: 54,382,952 (GRCm39) probably benign Het
Il1a T A 2: 129,146,607 (GRCm39) D162V probably damaging Het
Map3k19 A G 1: 127,745,162 (GRCm39) Y1227H possibly damaging Het
Myb C T 10: 21,020,927 (GRCm39) V501I probably benign Het
Nav1 A G 1: 135,382,998 (GRCm39) I1238T possibly damaging Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Pdilt A T 7: 119,088,707 (GRCm39) Y431* probably null Het
Plg A G 17: 12,629,838 (GRCm39) H624R probably damaging Het
Ppl A G 16: 4,907,641 (GRCm39) S885P probably benign Het
Ptdss1 T C 13: 67,135,868 (GRCm39) L375P probably damaging Het
Rrm1 A G 7: 102,106,768 (GRCm39) D347G probably benign Het
Sbf1 A T 15: 89,188,919 (GRCm39) V573E probably damaging Het
Slc9a1 T A 4: 133,143,714 (GRCm39) I400N probably damaging Het
Slurp1 A G 15: 74,598,808 (GRCm39) F61S probably damaging Het
Smpd3 T C 8: 106,991,860 (GRCm39) E231G probably benign Het
Sned1 C T 1: 93,200,286 (GRCm39) T564M probably damaging Het
Tril G T 6: 53,795,012 (GRCm39) R737S probably damaging Het
Trim35 T A 14: 66,546,236 (GRCm39) D334E probably benign Het
Trp53i11 A G 2: 93,029,303 (GRCm39) T101A possibly damaging Het
Usp9y T C Y: 1,299,097 (GRCm39) N2514D probably damaging Het
Xpc A T 6: 91,475,124 (GRCm39) Y634N probably damaging Het
Zftraf1 A G 15: 76,530,385 (GRCm39) *312Q probably null 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
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
R8008:Nr0b2 UTSW 4 133,283,339 (GRCm39) missense probably benign
R8263:Nr0b2 UTSW 4 133,281,241 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAGGTCGTCCGACTATTCTGTATG -3'
(R):5'- ACAATGGGTGTCAAGCCCCAAG -3'

Sequencing Primer
(F):5'- GTATGCACTTCTGAGCCCCAG -3'
(R):5'- CCAAGAAAGCACTTTCCTTGGATG -3'
Posted On 2013-09-30