Incidental Mutation 'R7942:Nr0b2'
ID 649097
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 045988-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7942 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 133280687-133283847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133280847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 38 (S38P)
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: S38P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039175
Gene: ENSMUSG00000037583
AA Change: S38P

DomainStartEndE-ValueType
HOLI 60 231 1.08e-17 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (51/51)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,087,027 (GRCm39) I565T probably damaging Het
Adamts8 G A 9: 30,864,778 (GRCm39) C423Y probably damaging Het
Adamts8 G A 9: 30,870,209 (GRCm39) probably null Het
Ahctf1 A C 1: 179,613,660 (GRCm39) V490G possibly damaging Het
Akap13 A G 7: 75,261,218 (GRCm39) T478A possibly damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Ano9 T C 7: 140,683,989 (GRCm39) S559G probably damaging Het
Aox1 A G 1: 58,376,590 (GRCm39) T924A probably damaging Het
Atp13a1 A G 8: 70,259,870 (GRCm39) E1126G probably damaging Het
Bcan A G 3: 87,900,382 (GRCm39) V617A probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cldnd1 A T 16: 58,550,078 (GRCm39) N87I possibly damaging Het
Enpp2 A T 15: 54,709,275 (GRCm39) V784E probably damaging Het
Eps8 T A 6: 137,507,575 (GRCm39) Y51F possibly damaging Het
Fam184b T C 5: 45,741,595 (GRCm39) K212R probably benign Het
Fbn1 A C 2: 125,254,706 (GRCm39) C186G possibly damaging Het
Fsip1 G A 2: 117,967,092 (GRCm39) T411I probably benign Het
Glyr1 T C 16: 4,836,785 (GRCm39) T460A probably benign Het
Gm19410 G A 8: 36,238,940 (GRCm39) G70R probably damaging Het
Gna15 G A 10: 81,359,745 (GRCm39) T15I probably damaging Het
Heg1 T C 16: 33,571,570 (GRCm39) C1198R probably damaging Het
Hoxd1 A G 2: 74,594,504 (GRCm39) Y253C probably damaging Het
Il17re G T 6: 113,443,111 (GRCm39) Q316H probably damaging Het
Jakmip1 C A 5: 37,331,182 (GRCm39) P621T probably benign Het
Krt71 T C 15: 101,643,894 (GRCm39) Y448C probably damaging Het
Lgals8 A G 13: 12,468,137 (GRCm39) probably null Het
Marchf11 A G 15: 26,409,505 (GRCm39) *401W probably null Het
Mctp1 A T 13: 76,789,829 (GRCm39) probably null Het
Mms19 C A 19: 41,944,400 (GRCm39) V310F probably damaging Het
Mycbp2 A T 14: 103,392,674 (GRCm39) F3296I probably damaging Het
Myo7b A T 18: 32,146,422 (GRCm39) I121N probably damaging Het
Nudt16l1 T A 16: 4,757,243 (GRCm39) M52K probably benign Het
Or3a4 A G 11: 73,945,054 (GRCm39) I177T probably damaging Het
Or8k32 T C 2: 86,368,566 (GRCm39) N229S probably benign Het
Polr3gl A T 3: 96,489,552 (GRCm39) probably null Het
Ptch2 T A 4: 116,963,198 (GRCm39) F228L probably benign Het
Slc35d1 A G 4: 103,070,360 (GRCm39) probably null Het
Slc41a1 G A 1: 131,768,635 (GRCm39) V198I probably damaging Het
Slc5a7 T C 17: 54,583,709 (GRCm39) D527G possibly damaging Het
Spaca7b A G 8: 11,705,615 (GRCm39) I164T unknown Het
Spag16 G T 1: 69,866,247 (GRCm39) A29S probably benign Het
Speer4f2 T A 5: 17,582,630 (GRCm39) D284E unknown Het
Sspo A G 6: 48,465,434 (GRCm39) probably null Het
Tdpoz1 T C 3: 93,578,517 (GRCm39) K89R possibly damaging Het
Tek C T 4: 94,740,111 (GRCm39) probably null Het
Tet3 C T 6: 83,353,956 (GRCm39) V902M probably damaging Het
Tpcn2 C T 7: 144,810,928 (GRCm39) V590M probably damaging Het
Trcg1 T C 9: 57,149,499 (GRCm39) V357A probably benign Het
Tspan18 A G 2: 93,041,203 (GRCm39) V133A probably benign Het
Unc5b A T 10: 60,613,322 (GRCm39) W305R probably damaging Het
Vmn2r95 T A 17: 18,660,529 (GRCm39) L314I possibly damaging Het
Wdsub1 G A 2: 59,707,061 (GRCm39) A178V probably damaging Het
Zfp407 A G 18: 84,577,754 (GRCm39) S1120P probably benign Het
Zfp57 T C 17: 37,320,566 (GRCm39) F140S probably damaging 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
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'- CAAGGTTGTTTGGCCAGTCC -3'
(R):5'- TCGAAGGTCACAGCATCCTG -3'

Sequencing Primer
(F):5'- TTCCCGCCCATCAAGGATATAAATAG -3'
(R):5'- AGCATCCTGGGCCAACC -3'
Posted On 2020-09-15