Incidental Mutation 'R3500:Nr5a1'
ID273735
Institutional Source Beutler Lab
Gene Symbol Nr5a1
Ensembl Gene ENSMUSG00000026751
Gene Namenuclear receptor subfamily 5, group A, member 1
SynonymsELP, Ad4BP, SF1, Ftzf1, SF-1, steroidogenic factor 1, adrenal 4-binding protein, Ftz-F1
MMRRC Submission 040663-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R3500 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location38692656-38714542 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 38707940 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 282 (R282*)
Ref Sequence ENSEMBL: ENSMUSP00000108504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028084] [ENSMUST00000112883]
Predicted Effect probably null
Transcript: ENSMUST00000028084
AA Change: R282*
SMART Domains Protein: ENSMUSP00000028084
Gene: ENSMUSG00000026751
AA Change: R282*

DomainStartEndE-ValueType
ZnF_C4 10 81 2.41e-38 SMART
low complexity region 124 142 N/A INTRINSIC
low complexity region 195 222 N/A INTRINSIC
low complexity region 225 238 N/A INTRINSIC
HOLI 268 431 3.54e-36 SMART
Predicted Effect probably null
Transcript: ENSMUST00000112883
AA Change: R282*
SMART Domains Protein: ENSMUSP00000108504
Gene: ENSMUSG00000026751
AA Change: R282*

DomainStartEndE-ValueType
ZnF_C4 10 81 2.41e-38 SMART
low complexity region 124 142 N/A INTRINSIC
low complexity region 195 222 N/A INTRINSIC
low complexity region 225 238 N/A INTRINSIC
HOLI 268 431 3.54e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146954
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149690
Meta Mutation Damage Score 0.6248 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 98% (53/54)
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 transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit agenesis of the adrenal glands and gonads, defects of the ventromedial hypothalamic nucleus, impaired pituitary gonadotroph function, and neonatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610037L13Rik C T 4: 107,891,513 R83W probably damaging Het
Amhr2 A G 15: 102,447,066 D188G probably benign Het
Arl15 G A 13: 113,967,692 E102K probably damaging Het
Atp10d C T 5: 72,245,723 R319C probably damaging Het
Cetn4 A T 3: 37,309,960 F34I probably benign Het
Chd8 G T 14: 52,205,653 H510N probably benign Het
Chil5 T C 3: 106,018,220 D157G probably damaging Het
Clcn1 T C 6: 42,292,995 S251P probably damaging Het
Clstn3 A T 6: 124,431,711 C881S probably benign Het
Cnot4 G A 6: 35,080,141 probably benign Het
Copg1 G A 6: 87,895,923 probably benign Het
Eftud2 A G 11: 102,844,180 M631T probably damaging Het
Elavl3 A G 9: 22,018,744 V288A probably damaging Het
Fancb A G X: 164,996,108 T721A probably damaging Het
Fat2 A G 11: 55,260,516 F3800S probably damaging Het
Fgd2 T C 17: 29,365,601 V173A possibly damaging Het
Gabrr1 T C 4: 33,158,184 probably benign Het
Gata4 C T 14: 63,200,533 G390S possibly damaging Het
Gm9396 C A 3: 130,068,495 noncoding transcript Het
Grid2 T C 6: 63,503,399 S66P probably damaging Het
Hdac9 C A 12: 34,437,353 M16I probably benign Het
Kmt2c A T 5: 25,299,479 D3610E probably benign Het
Lactb2 A T 1: 13,660,449 M1K probably null Het
Ldhb T C 6: 142,501,447 D47G probably damaging Het
Map3k11 A T 19: 5,690,247 M1L probably benign Het
Mecom C T 3: 29,980,912 R205H probably damaging Het
Mob1b A G 5: 88,749,620 D129G probably benign Het
Nbea A G 3: 55,681,010 V2436A possibly damaging Het
Neb T C 2: 52,325,785 N170S probably damaging Het
Nedd4l G A 18: 65,212,860 A848T probably damaging Het
Olfr1189 A G 2: 88,591,941 T46A probably damaging Het
Olfr1224-ps1 C T 2: 89,157,059 G39R probably damaging Het
Olfr1317 T C 2: 112,142,127 F61L possibly damaging Het
Olfr1426 A G 19: 12,088,057 V245A possibly damaging Het
Olfr589 T C 7: 103,155,090 Y219C probably damaging Het
Pcdhb19 T A 18: 37,497,479 L109* probably null Het
Plcg2 A G 8: 117,612,978 M1043V probably benign Het
Podxl2 T C 6: 88,842,918 D554G probably damaging Het
Ppp3ca A G 3: 136,881,512 T252A probably benign Het
Pramel6 A G 2: 87,509,225 H111R probably damaging Het
Prr19 A G 7: 25,303,267 E130G probably damaging Het
Rab44 C T 17: 29,138,067 A57V probably benign Het
Rhbdl3 T C 11: 80,319,705 F95L probably damaging Het
Sdk1 G T 5: 142,006,616 probably benign Het
Tas2r122 T A 6: 132,711,560 K123N probably damaging Het
Tbpl2 C T 2: 24,087,139 R289Q probably benign Het
Trpm2 A G 10: 77,932,302 F788L probably benign Het
Ttn G A 2: 76,730,284 L29258F probably damaging Het
Ttn G T 2: 76,761,165 F19307L possibly damaging Het
Vmn2r23 T C 6: 123,713,170 I335T possibly damaging Het
Other mutations in Nr5a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Nr5a1 APN 2 38708341 missense probably benign 0.00
IGL02869:Nr5a1 APN 2 38708129 missense probably benign
IGL03081:Nr5a1 APN 2 38710532 missense possibly damaging 0.92
R0053:Nr5a1 UTSW 2 38694166 missense probably damaging 0.98
R1437:Nr5a1 UTSW 2 38710673 missense probably benign
R1753:Nr5a1 UTSW 2 38708419 missense possibly damaging 0.84
R1921:Nr5a1 UTSW 2 38694096 missense probably damaging 1.00
R4393:Nr5a1 UTSW 2 38694219 missense probably damaging 1.00
R5417:Nr5a1 UTSW 2 38708086 missense possibly damaging 0.95
R5821:Nr5a1 UTSW 2 38708499 missense probably damaging 0.96
R5936:Nr5a1 UTSW 2 38701778 intron probably benign
R6088:Nr5a1 UTSW 2 38701995 missense probably benign
R6443:Nr5a1 UTSW 2 38710430 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGAAATGCCCTTCTTCCATGC -3'
(R):5'- TATCCAGAGCCCTATGCCAG -3'

Sequencing Primer
(F):5'- ATGCAGTGGTACTTCCCCAGAC -3'
(R):5'- TTCTCAGGAGGGCCCAATGTAC -3'
Posted On2015-04-02