Incidental Mutation 'IGL02688:Nr5a2'
ID303644
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr5a2
Ensembl Gene ENSMUSG00000026398
Gene Namenuclear receptor subfamily 5, group A, member 2
SynonymsD1Ertd308e, Ftf, LRH-1, UF2-H3B
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02688
Quality Score
Status
Chromosome1
Chromosomal Location136842571-136960448 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 136940407 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027649] [ENSMUST00000168126] [ENSMUST00000192357] [ENSMUST00000192929] [ENSMUST00000195428]
Predicted Effect probably null
Transcript: ENSMUST00000027649
SMART Domains Protein: ENSMUSP00000027649
Gene: ENSMUSG00000026398

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
SMART Domains Protein: ENSMUSP00000129071
Gene: ENSMUSG00000026398

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: ENSMUST00000192357
SMART Domains Protein: ENSMUSP00000142219
Gene: ENSMUSG00000026398

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 noncoding transcript
Transcript: ENSMUST00000192587
Predicted Effect probably null
Transcript: ENSMUST00000192929
SMART Domains Protein: ENSMUSP00000141495
Gene: ENSMUSG00000026398

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: ENSMUST00000195428
SMART Domains Protein: ENSMUSP00000141645
Gene: ENSMUSG00000026398

DomainStartEndE-ValueType
ZnF_C4 43 114 1.1e-42 SMART
Coding Region Coverage
Validation Efficiency
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 C A 8: 40,826,320 R583S probably benign Het
Bcl9l C T 9: 44,505,263 T211I possibly damaging Het
C6 A G 15: 4,798,320 I724V probably benign Het
Cacna2d4 T A 6: 119,270,749 probably null Het
Casp4 A G 9: 5,322,844 E40G possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Dnah7a A C 1: 53,444,472 M3382R possibly damaging Het
Dst T C 1: 34,195,952 L3526P probably damaging Het
Eya4 A G 10: 23,159,110 S116P probably benign Het
Gabra4 T A 5: 71,572,167 E423D probably benign Het
Ighv1-67 T G 12: 115,604,023 T90P probably damaging Het
Kcnh8 A G 17: 52,959,443 T828A probably benign Het
Nup214 C T 2: 32,031,275 P1237S probably benign Het
Phactr3 A G 2: 178,278,999 D215G probably damaging Het
Phf2 G T 13: 48,805,839 P897Q unknown Het
Pla2r1 T C 2: 60,455,201 R690G probably damaging Het
Ppargc1b A G 18: 61,312,243 S181P possibly damaging Het
Sele A T 1: 164,050,130 I165F probably damaging Het
Srcap T C 7: 127,542,453 S1626P probably benign Het
Tenm2 A G 11: 36,068,458 I1088T probably benign Het
Tnrc18 T C 5: 142,790,172 S69G probably damaging Het
Trmt5 C A 12: 73,281,458 E324* probably null Het
Ttll3 T C 6: 113,399,739 I360T probably benign Het
Zfp277 A G 12: 40,328,688 V390A possibly damaging Het
Other mutations in Nr5a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00799:Nr5a2 APN 1 136890798 missense probably damaging 1.00
IGL01082:Nr5a2 APN 1 136845468 missense probably benign 0.06
IGL02547:Nr5a2 APN 1 136940927 missense probably benign 0.01
IGL02712:Nr5a2 APN 1 136940528 unclassified probably null
aggressivity UTSW 1 136882344 missense possibly damaging 0.78
R0356:Nr5a2 UTSW 1 136845692 missense possibly damaging 0.91
R0653:Nr5a2 UTSW 1 136948805 missense probably benign 0.04
R1111:Nr5a2 UTSW 1 136882421 splice site probably null
R1728:Nr5a2 UTSW 1 136952125 missense probably benign
R1729:Nr5a2 UTSW 1 136952125 missense probably benign
R1730:Nr5a2 UTSW 1 136952125 missense probably benign
R1739:Nr5a2 UTSW 1 136952125 missense probably benign
R1762:Nr5a2 UTSW 1 136952125 missense probably benign
R1783:Nr5a2 UTSW 1 136952125 missense probably benign
R1784:Nr5a2 UTSW 1 136952125 missense probably benign
R1785:Nr5a2 UTSW 1 136952125 missense probably benign
R1927:Nr5a2 UTSW 1 136944994 missense probably damaging 1.00
R2360:Nr5a2 UTSW 1 136948827 missense probably benign
R3408:Nr5a2 UTSW 1 136940498 missense probably benign
R4662:Nr5a2 UTSW 1 136940429 missense probably benign 0.00
R4861:Nr5a2 UTSW 1 136948720 critical splice donor site probably null
R4861:Nr5a2 UTSW 1 136948720 critical splice donor site probably null
R5176:Nr5a2 UTSW 1 136948802 start codon destroyed probably null 0.96
R5999:Nr5a2 UTSW 1 136845542 missense probably damaging 1.00
R6191:Nr5a2 UTSW 1 136890798 missense probably damaging 1.00
R6457:Nr5a2 UTSW 1 136960238 missense probably benign 0.00
R6747:Nr5a2 UTSW 1 136882344 missense possibly damaging 0.78
X0012:Nr5a2 UTSW 1 136943292 missense probably damaging 1.00
X0065:Nr5a2 UTSW 1 136940777 missense probably benign 0.00
Posted On2015-04-16