Incidental Mutation 'R0356:Nr5a2'
ID 29808
Institutional Source Beutler Lab
Gene Symbol Nr5a2
Ensembl Gene ENSMUSG00000026398
Gene Name nuclear receptor subfamily 5, group A, member 2
Synonyms D1Ertd308e, UF2-H3B, Ftf, LRH-1
MMRRC Submission 038562-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0356 (G1)
Quality Score 193
Status Validated
Chromosome 1
Chromosomal Location 136770309-136888186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136773430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 424 (N424S)
Ref Sequence ENSEMBL: ENSMUSP00000141495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027649] [ENSMUST00000168126] [ENSMUST00000192357] [ENSMUST00000192929]
AlphaFold P45448
Predicted Effect possibly damaging
Transcript: ENSMUST00000027649
AA Change: N485S

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027649
Gene: ENSMUSG00000026398
AA Change: N485S

DomainStartEndE-ValueType
ZnF_C4 104 175 2.85e-40 SMART
Blast:HOLI 196 247 1e-5 BLAST
low complexity region 290 302 N/A INTRINSIC
HOLI 366 529 4.13e-46 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000168126
AA Change: N424S

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129071
Gene: ENSMUSG00000026398
AA Change: N424S

DomainStartEndE-ValueType
ZnF_C4 43 114 2.85e-40 SMART
low complexity region 229 241 N/A INTRINSIC
HOLI 305 468 4.13e-46 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000192357
AA Change: N464S

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142219
Gene: ENSMUSG00000026398
AA Change: N464S

DomainStartEndE-ValueType
ZnF_C4 83 154 1.1e-42 SMART
Blast:HOLI 175 226 1e-5 BLAST
low complexity region 269 281 N/A INTRINSIC
HOLI 345 508 1.7e-48 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000192929
AA Change: N424S

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141495
Gene: ENSMUSG00000026398
AA Change: N424S

DomainStartEndE-ValueType
ZnF_C4 43 114 2.85e-40 SMART
low complexity region 229 241 N/A INTRINSIC
HOLI 305 468 4.13e-46 SMART
Meta Mutation Damage Score 0.2035 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.6%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene die around embryonic day 7.5. Heterozygotes are essentially normal but with lower plasma cholesterol, increased bile acids, and shorter intestinal crypt length. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,418 (GRCm39) probably benign Het
Adgrg6 C T 10: 14,302,642 (GRCm39) V924M possibly damaging Het
Anxa9 A G 3: 95,215,387 (GRCm39) probably benign Het
Ap3d1 G T 10: 80,563,812 (GRCm39) S122R probably damaging Het
Arhgap5 T C 12: 52,563,091 (GRCm39) S21P probably damaging Het
Atp13a5 A G 16: 29,167,573 (GRCm39) probably benign Het
AU040320 A T 4: 126,731,155 (GRCm39) D618V probably damaging Het
Cbfa2t2 T A 2: 154,373,269 (GRCm39) D475E probably benign Het
Ccdc202 T A 14: 96,119,801 (GRCm39) V186E possibly damaging Het
Ccdc62 G A 5: 124,092,811 (GRCm39) V599I probably benign Het
Cenpj T C 14: 56,786,953 (GRCm39) E917G probably damaging Het
Cog5 T C 12: 31,887,180 (GRCm39) probably benign Het
Col9a1 T A 1: 24,224,328 (GRCm39) L170* probably null Het
Daxx T A 17: 34,132,867 (GRCm39) V627D probably benign Het
Dnah9 A G 11: 66,021,388 (GRCm39) probably null Het
Drg2 T A 11: 60,352,407 (GRCm39) V203E probably damaging Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Fer1l4 T C 2: 155,865,930 (GRCm39) Y1586C probably damaging Het
Gp6 A T 7: 4,373,141 (GRCm39) probably benign Het
Hhip T C 8: 80,724,121 (GRCm39) I374V probably benign Het
Hspa12b G T 2: 130,986,719 (GRCm39) V547L possibly damaging Het
Iars1 G A 13: 49,856,709 (GRCm39) V321I probably benign Het
Itga8 T C 2: 12,187,532 (GRCm39) M716V possibly damaging Het
Lcn5 T C 2: 25,550,705 (GRCm39) I131T probably damaging Het
Mki67 G A 7: 135,306,135 (GRCm39) T614M probably benign Het
Mmp3 G A 9: 7,451,768 (GRCm39) E369K probably benign Het
Myt1l A G 12: 29,861,500 (GRCm39) D94G unknown Het
Neil1 T C 9: 57,054,180 (GRCm39) I47V possibly damaging Het
Or1e21 A T 11: 73,344,906 (GRCm39) I44N possibly damaging Het
Or51f5 A T 7: 102,424,286 (GRCm39) D185V probably damaging Het
Or5b120 A G 19: 13,480,441 (GRCm39) T245A possibly damaging Het
Or7e166 G T 9: 19,624,743 (GRCm39) G207C probably damaging Het
Pakap C A 4: 57,855,628 (GRCm39) T360K possibly damaging Het
Pde8b G T 13: 95,182,962 (GRCm39) N265K probably damaging Het
Prpf40b T C 15: 99,203,080 (GRCm39) probably null Het
Samd9l T C 6: 3,375,107 (GRCm39) D718G possibly damaging Het
Sirpb1c T C 3: 15,887,309 (GRCm39) N175D possibly damaging Het
Srgap1 A T 10: 121,691,441 (GRCm39) probably null Het
Tgm5 T A 2: 120,884,055 (GRCm39) T313S probably damaging Het
Tigar A G 6: 127,068,145 (GRCm39) probably null Het
Tmprss11b A G 5: 86,808,326 (GRCm39) *417Q probably null Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Ttll11 T C 2: 35,792,688 (GRCm39) D385G possibly damaging Het
Zfp426 T C 9: 20,382,541 (GRCm39) T135A probably benign Het
Other mutations in Nr5a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00799:Nr5a2 APN 1 136,818,536 (GRCm39) missense probably damaging 1.00
IGL01082:Nr5a2 APN 1 136,773,206 (GRCm39) missense probably benign 0.06
IGL02547:Nr5a2 APN 1 136,868,665 (GRCm39) missense probably benign 0.01
IGL02688:Nr5a2 APN 1 136,868,145 (GRCm39) critical splice donor site probably null
IGL02712:Nr5a2 APN 1 136,868,266 (GRCm39) splice site probably null
aggressivity UTSW 1 136,810,082 (GRCm39) missense possibly damaging 0.78
R0653:Nr5a2 UTSW 1 136,876,543 (GRCm39) missense probably benign 0.04
R1111:Nr5a2 UTSW 1 136,810,159 (GRCm39) splice site probably null
R1728:Nr5a2 UTSW 1 136,879,863 (GRCm39) missense probably benign
R1729:Nr5a2 UTSW 1 136,879,863 (GRCm39) missense probably benign
R1730:Nr5a2 UTSW 1 136,879,863 (GRCm39) missense probably benign
R1739:Nr5a2 UTSW 1 136,879,863 (GRCm39) missense probably benign
R1762:Nr5a2 UTSW 1 136,879,863 (GRCm39) missense probably benign
R1783:Nr5a2 UTSW 1 136,879,863 (GRCm39) missense probably benign
R1784:Nr5a2 UTSW 1 136,879,863 (GRCm39) missense probably benign
R1785:Nr5a2 UTSW 1 136,879,863 (GRCm39) missense probably benign
R1927:Nr5a2 UTSW 1 136,872,732 (GRCm39) missense probably damaging 1.00
R2360:Nr5a2 UTSW 1 136,876,565 (GRCm39) missense probably benign
R3408:Nr5a2 UTSW 1 136,868,236 (GRCm39) missense probably benign
R4662:Nr5a2 UTSW 1 136,868,167 (GRCm39) missense probably benign 0.00
R4861:Nr5a2 UTSW 1 136,876,458 (GRCm39) critical splice donor site probably null
R4861:Nr5a2 UTSW 1 136,876,458 (GRCm39) critical splice donor site probably null
R5176:Nr5a2 UTSW 1 136,876,540 (GRCm39) start codon destroyed probably null 0.96
R5999:Nr5a2 UTSW 1 136,773,280 (GRCm39) missense probably damaging 1.00
R6191:Nr5a2 UTSW 1 136,818,536 (GRCm39) missense probably damaging 1.00
R6457:Nr5a2 UTSW 1 136,887,976 (GRCm39) missense probably benign 0.00
R6747:Nr5a2 UTSW 1 136,810,082 (GRCm39) missense possibly damaging 0.78
R8170:Nr5a2 UTSW 1 136,868,385 (GRCm39) missense probably benign 0.06
R9013:Nr5a2 UTSW 1 136,872,745 (GRCm39) missense probably damaging 1.00
R9556:Nr5a2 UTSW 1 136,818,460 (GRCm39) missense possibly damaging 0.62
X0012:Nr5a2 UTSW 1 136,871,030 (GRCm39) missense probably damaging 1.00
X0065:Nr5a2 UTSW 1 136,868,515 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTATAGGGCACATCCCCGTTCACG -3'
(R):5'- GGACACAGATTTCACCTTGGGTCAG -3'

Sequencing Primer
(F):5'- ACGTGCTTATAGTACAGGTAGTC -3'
(R):5'- TCCCTGGAAGCTTGGTAAAC -3'
Posted On 2013-04-24