Incidental Mutation 'R5176:Nr5a2'
ID 399247
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 042756-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5176 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 136770309-136888186 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 136876540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000141495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027649] [ENSMUST00000168126] [ENSMUST00000192357] [ENSMUST00000192929] [ENSMUST00000195428]
AlphaFold P45448
Predicted Effect probably benign
Transcript: ENSMUST00000027649
AA Change: M62K

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000027649
Gene: ENSMUSG00000026398
AA Change: M62K

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 probably null
Transcript: ENSMUST00000168126
AA Change: M1K

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000129071
Gene: ENSMUSG00000026398
AA Change: M1K

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 probably benign
Transcript: ENSMUST00000192357
AA Change: M41K

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142219
Gene: ENSMUSG00000026398
AA Change: M41K

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 probably null
Transcript: ENSMUST00000192929
AA Change: M1K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141495
Gene: ENSMUSG00000026398
AA Change: M1K

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 probably null
Transcript: ENSMUST00000195428
AA Change: M1K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141645
Gene: ENSMUSG00000026398
AA Change: M1K

DomainStartEndE-ValueType
ZnF_C4 43 114 1.1e-42 SMART
Meta Mutation Damage Score 0.1144 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (69/70)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 C A 10: 79,834,123 (GRCm39) H116Q probably benign Het
Akap12 G T 10: 4,303,947 (GRCm39) E252D probably benign Het
Apobr A G 7: 126,184,188 (GRCm39) D2G probably damaging Het
Arhgef12 A T 9: 42,931,982 (GRCm39) H168Q probably damaging Het
Asb3 T A 11: 31,031,357 (GRCm39) probably null Het
Brip1 T C 11: 85,968,710 (GRCm39) Y825C probably damaging Het
Cacna1b A T 2: 24,525,143 (GRCm39) Y1679N probably damaging Het
Ccdc69 C T 11: 54,951,296 (GRCm39) A42T probably benign Het
Cds1 G T 5: 101,929,286 (GRCm39) D55Y possibly damaging Het
Cep135 C A 5: 76,784,873 (GRCm39) D989E probably benign Het
Cpsf6 C A 10: 117,197,189 (GRCm39) probably benign Het
Ctif C T 18: 75,770,290 (GRCm39) V32M probably damaging Het
Cylc2 T C 4: 51,228,587 (GRCm39) probably benign Het
Dao T C 5: 114,158,070 (GRCm39) probably null Het
Dop1a T A 9: 86,403,868 (GRCm39) N1689K probably damaging Het
Dop1b A G 16: 93,536,931 (GRCm39) Y14C probably damaging Het
Fam187a C T 11: 102,777,290 (GRCm39) R365C probably damaging Het
Fastkd2 A G 1: 63,770,598 (GRCm39) probably benign Het
Fhip2a A G 19: 57,359,613 (GRCm39) N51S probably damaging Het
Fkbp15 G T 4: 62,230,560 (GRCm39) L718I possibly damaging Het
Gabbr2 C A 4: 46,681,208 (GRCm39) V118F probably damaging Het
Gm13991 T A 2: 116,358,508 (GRCm39) noncoding transcript Het
H2-M9 T C 17: 36,952,523 (GRCm39) I174M probably damaging Het
Ift70a2 T C 2: 75,807,421 (GRCm39) M364V probably benign Het
Insr T A 8: 3,208,742 (GRCm39) M1240L probably benign Het
Ints15 G T 5: 143,300,830 (GRCm39) S7* probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Mad2l1bp T A 17: 46,463,738 (GRCm39) E95D probably benign Het
Marchf9 T C 10: 126,895,319 (GRCm39) D102G probably benign Het
Muc19 A G 15: 91,776,374 (GRCm39) noncoding transcript Het
Nr1h4 T A 10: 89,334,117 (GRCm39) Y91F probably benign Het
Oprd1 T C 4: 131,841,104 (GRCm39) T285A probably benign Het
Optc T C 1: 133,829,822 (GRCm39) N196S probably benign Het
Or51f5 T A 7: 102,424,513 (GRCm39) S261T probably damaging Het
Or5g29 A C 2: 85,421,779 (GRCm39) K298N possibly damaging Het
Or7g21 A T 9: 19,032,656 (GRCm39) Y132F probably damaging Het
Panx2 G T 15: 88,944,431 (GRCm39) R52L probably damaging Het
Pdzd8 A G 19: 59,333,389 (GRCm39) F211L probably damaging Het
Pot1b T A 17: 56,006,995 (GRCm39) T41S probably benign Het
Prss56 T C 1: 87,111,880 (GRCm39) L37S probably damaging Het
Ptk2b T C 14: 66,393,864 (GRCm39) T870A probably damaging Het
Rabep2 C A 7: 126,033,465 (GRCm39) probably benign Het
Rbm48 A C 5: 3,645,444 (GRCm39) V80G probably damaging Het
Rhou G T 8: 124,380,848 (GRCm39) C55F possibly damaging Het
Rnaseh2c A G 19: 5,652,070 (GRCm39) D45G probably benign Het
Rusc1 A G 3: 88,996,389 (GRCm39) S109P probably damaging Het
Ryr3 T C 2: 112,588,012 (GRCm39) D2643G possibly damaging Het
Septin4 T A 11: 87,458,358 (GRCm39) M244K probably benign Het
Sik2 T C 9: 50,810,703 (GRCm39) E471G probably benign Het
Sipa1 A G 19: 5,709,406 (GRCm39) S310P probably damaging Het
Sp140l1 C T 1: 85,066,521 (GRCm39) probably benign Het
Spen T C 4: 141,203,587 (GRCm39) E1680G unknown Het
Steap3 C T 1: 120,171,497 (GRCm39) probably null Het
Tmeff2 T A 1: 51,110,700 (GRCm39) C171* probably null Het
Tmem138 A T 19: 10,552,634 (GRCm39) M33K probably benign Het
Trappc11 C A 8: 47,963,998 (GRCm39) V601L possibly damaging Het
Ttll4 C A 1: 74,718,445 (GRCm39) H99N probably damaging Het
Uchl4 A T 9: 64,143,022 (GRCm39) K168* probably null Het
Wdr17 C T 8: 55,106,913 (GRCm39) probably null Het
Xpo1 A G 11: 23,245,977 (GRCm39) D1029G probably damaging Het
Zfp719 G T 7: 43,240,549 (GRCm39) K712N probably damaging 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
R0356:Nr5a2 UTSW 1 136,773,430 (GRCm39) missense possibly damaging 0.91
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
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'- TTGCGTCTAAAGAGGAGGCC -3'
(R):5'- CTCAGCTTAGGGACAGCTTTG -3'

Sequencing Primer
(F):5'- ACCACAACTGCCAGCTGGG -3'
(R):5'- TTTGAAGCTGCCGGACC -3'
Posted On 2016-07-06