Incidental Mutation 'R0987:Nr0b2'
ID 97264
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 039107-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0987 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 133280687-133283847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 133283503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 247 (V247I)
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: V247I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000039175
Gene: ENSMUSG00000037583
AA Change: V247I

DomainStartEndE-ValueType
HOLI 60 231 1.08e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175076
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.4%
  • 20x: 87.4%
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 T A 4: 144,246,502 (GRCm39) V16D possibly damaging Het
Cacng6 C T 7: 3,479,020 (GRCm39) T133I probably damaging Het
Car6 A G 4: 150,281,800 (GRCm39) I71T probably damaging Het
Crem A T 18: 3,288,060 (GRCm39) S178T probably damaging Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Fcgbp G T 7: 27,793,599 (GRCm39) C1167F probably damaging Het
Glipr1l1 A G 10: 111,914,340 (GRCm39) S234G probably benign Het
Igsf9b T C 9: 27,243,849 (GRCm39) probably null Het
Kif26b T C 1: 178,649,185 (GRCm39) L435P probably damaging Het
Kirrel2 T C 7: 30,147,555 (GRCm39) T698A probably damaging Het
Lrrc9 T C 12: 72,557,156 (GRCm39) V1407A probably benign Het
Mau2 T C 8: 70,480,348 (GRCm39) D275G probably damaging Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Notch2 T C 3: 98,041,993 (GRCm39) probably null Het
Or4c11 A T 2: 88,695,527 (GRCm39) I193L probably benign Het
Or5l13 G A 2: 87,779,891 (GRCm39) R229C probably benign Het
Or8k28 A T 2: 86,285,891 (GRCm39) C241* probably null Het
Pigf A G 17: 87,304,973 (GRCm39) L190P probably damaging Het
Rasef A T 4: 73,652,721 (GRCm39) C593* probably null Het
Tex15 T G 8: 34,066,875 (GRCm39) W2102G probably damaging Het
Tmbim1 T C 1: 74,333,083 (GRCm39) probably null Het
Tmem183a A T 1: 134,280,109 (GRCm39) F257Y probably damaging Het
Zbtb11 A G 16: 55,811,071 (GRCm39) T410A probably benign Het
Zzef1 TGCGTGGGAACCCGC TGC 11: 72,792,159 (GRCm39) probably benign 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
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'- AGACCTAGCCACTTAGCAGCTCTC -3'
(R):5'- ACTGTATCCAAAGCAAGGAAGTCCG -3'

Sequencing Primer
(F):5'- TCTGCCACAGATGTGCCAG -3'
(R):5'- AGTCCGAGCTAGGGGTG -3'
Posted On 2014-01-05