Incidental Mutation 'R7365:Nr4a3'
ID 571694
Institutional Source Beutler Lab
Gene Symbol Nr4a3
Ensembl Gene ENSMUSG00000028341
Gene Name nuclear receptor subfamily 4, group A, member 3
Synonyms MINOR, Nor1, NOR-1, TEC
MMRRC Submission 045449-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7365 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 48045153-48086447 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 48051290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 15 (S15A)
Ref Sequence ENSEMBL: ENSMUSP00000030025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030025]
AlphaFold Q9QZB6
Predicted Effect possibly damaging
Transcript: ENSMUST00000030025
AA Change: S15A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030025
Gene: ENSMUSG00000028341
AA Change: S15A

DomainStartEndE-ValueType
Blast:HOLI 1 43 4e-18 BLAST
low complexity region 99 115 N/A INTRINSIC
low complexity region 139 151 N/A INTRINSIC
low complexity region 196 210 N/A INTRINSIC
low complexity region 218 239 N/A INTRINSIC
low complexity region 269 288 N/A INTRINSIC
ZnF_C4 290 361 4.57e-39 SMART
low complexity region 376 396 N/A INTRINSIC
HOLI 440 595 2.46e-21 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000121455
Gene: ENSMUSG00000028341
AA Change: S44A

DomainStartEndE-ValueType
Blast:HOLI 30 73 8e-19 BLAST
low complexity region 129 145 N/A INTRINSIC
low complexity region 169 181 N/A INTRINSIC
low complexity region 226 240 N/A INTRINSIC
low complexity region 248 269 N/A INTRINSIC
low complexity region 299 318 N/A INTRINSIC
ZnF_C4 320 391 4.57e-39 SMART
low complexity region 406 426 N/A INTRINSIC
HOLI 470 625 2.46e-21 SMART
Meta Mutation Damage Score 0.0795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (96/96)
MGI Phenotype FUNCTION: This gene encodes a member of the NR4A subfamily of nuclear hormone receptors that bind to DNA and modulate gene expression. The encoded protein has been implicated in T and B lymphocyte apoptosis, and immune cell proliferation. Mice lacking the encoded protein exhibit partial bidirectional circling behavior and inner ear dysfunction. Disruption of this gene in mice also results in defective hippocampal axonal growth and postnatal neuronal cell death. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit defects in the semicircular canals of the inner ear and bidirectional circling behavior. Mice homozygous for another null allele display embryonic lethality with impaired cell migration during gastrulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,198 (GRCm39) S155G probably benign Het
Abcc4 T C 14: 118,865,066 (GRCm39) N320S probably damaging Het
Akr1c19 G A 13: 4,287,069 (GRCm39) R96H probably benign Het
Ankrd17 T C 5: 90,439,010 (GRCm39) D451G possibly damaging Het
Ano8 T A 8: 71,937,754 (GRCm39) D36V probably damaging Het
Aqp3 A G 4: 41,098,003 (GRCm39) V36A probably benign Het
Atf7ip A G 6: 136,537,708 (GRCm39) T314A probably benign Het
Atp2c1 A T 9: 105,300,198 (GRCm39) D700E probably damaging Het
Axin2 G A 11: 108,830,202 (GRCm39) V341M possibly damaging Het
Bin3 A G 14: 70,371,976 (GRCm39) Q139R probably damaging Het
Brca2 A G 5: 150,455,802 (GRCm39) D181G probably damaging Het
Capn3 A G 2: 120,325,295 (GRCm39) E466G probably damaging Het
Ccdc14 T A 16: 34,543,989 (GRCm39) Y830* probably null Het
Cdk12 T C 11: 98,111,910 (GRCm39) F723L unknown Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Cip2a T A 16: 48,822,016 (GRCm39) S215T probably benign Het
Clca3a2 T A 3: 144,804,545 (GRCm39) I61F probably damaging Het
Clca4b T C 3: 144,628,529 (GRCm39) T393A not run Het
Cldn5 G A 16: 18,595,845 (GRCm39) A34T probably damaging Het
Cobll1 A T 2: 64,928,717 (GRCm39) S870T probably damaging Het
Col12a1 T C 9: 79,613,642 (GRCm39) K68E probably damaging Het
Crnn A T 3: 93,055,841 (GRCm39) Q209L probably damaging Het
Cwf19l1 A T 19: 44,120,579 (GRCm39) F45I probably damaging Het
Cyfip2 T A 11: 46,098,267 (GRCm39) K1052* probably null Het
D930020B18Rik G A 10: 121,503,716 (GRCm39) probably null Het
Dcc G A 18: 71,959,194 (GRCm39) P193S probably damaging Het
Dda1 T A 8: 71,927,137 (GRCm39) C48S probably benign Het
Disc1 A G 8: 125,881,780 (GRCm39) R572G probably damaging Het
Dnah7a A T 1: 53,536,297 (GRCm39) M2582K probably benign Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
Dynlrb2 T C 8: 117,241,696 (GRCm39) V80A probably benign Het
Eif3a A T 19: 60,755,082 (GRCm39) D1033E unknown Het
Enam C A 5: 88,649,347 (GRCm39) H285Q possibly damaging Het
Ep400 T C 5: 110,867,480 (GRCm39) D980G unknown Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Erc2 A C 14: 27,762,346 (GRCm39) D703A probably damaging Het
Ezh2 G T 6: 47,510,692 (GRCm39) S639* probably null Het
Fbn1 G A 2: 125,193,969 (GRCm39) H1333Y probably damaging Het
Flad1 A G 3: 89,315,972 (GRCm39) S197P possibly damaging Het
Foxl3 A G 5: 138,806,736 (GRCm39) H82R probably damaging Het
Gfm2 G T 13: 97,279,529 (GRCm39) C26F probably benign Het
Golga2 C T 2: 32,193,013 (GRCm39) Q444* probably null Het
Gp5 A T 16: 30,127,426 (GRCm39) V416D probably damaging Het
Gpat2 A G 2: 127,268,901 (GRCm39) probably null Het
Gpr137c A G 14: 45,516,471 (GRCm39) D353G probably damaging Het
Hoxa13 A C 6: 52,236,862 (GRCm39) W133G probably damaging Het
Hydin A T 8: 111,327,905 (GRCm39) K4804M probably damaging Het
Hydin A T 8: 111,284,294 (GRCm39) I3189F probably damaging Het
Ice2 T C 9: 69,307,794 (GRCm39) F26S probably damaging Het
Ints11 T C 4: 155,956,687 (GRCm39) probably null Het
Ipo5 A G 14: 121,157,497 (GRCm39) I112V probably benign Het
Itgax T A 7: 127,734,481 (GRCm39) S346R probably damaging Het
Kcnj13 T A 1: 87,316,739 (GRCm39) M125L probably damaging Het
Lmbrd1 T A 1: 24,783,948 (GRCm39) V359E possibly damaging Het
Lrrc7 T G 3: 157,903,798 (GRCm39) K287N probably damaging Het
Mau2 C T 8: 70,481,884 (GRCm39) A191T possibly damaging Het
Mkx C A 18: 7,000,747 (GRCm39) R65L possibly damaging Het
Mroh4 T A 15: 74,482,220 (GRCm39) K746* probably null Het
Myh4 A G 11: 67,133,674 (GRCm39) T238A probably damaging Het
Nlrp9c T A 7: 26,070,822 (GRCm39) N920Y possibly damaging Het
Ntn4 T C 10: 93,480,666 (GRCm39) L130P probably damaging Het
Or2ag13 A G 7: 106,313,171 (GRCm39) V239A probably benign Het
Or4a68 A G 2: 89,270,542 (GRCm39) V27A probably benign Het
Or4f59 A T 2: 111,873,359 (GRCm39) V6E possibly damaging Het
Or56a42-ps1 T A 7: 104,777,552 (GRCm39) I21F probably benign Het
Or8d23 A T 9: 38,842,072 (GRCm39) I202F probably damaging Het
Otog T C 7: 45,947,732 (GRCm39) L110P probably damaging Het
Platr25 G A 13: 62,848,719 (GRCm39) H48Y probably benign Het
Plcxd2 T C 16: 45,800,789 (GRCm39) E145G probably damaging Het
Pltp A T 2: 164,696,242 (GRCm39) N143K probably damaging Het
Pnpt1 T C 11: 29,111,334 (GRCm39) Y735H probably damaging Het
Prom1 A G 5: 44,178,173 (GRCm39) Y520H probably damaging Het
Rag2 A G 2: 101,461,118 (GRCm39) Y476C probably damaging Het
Rdh16f2 A G 10: 127,712,893 (GRCm39) Y297C probably damaging Het
Ryr1 T C 7: 28,785,180 (GRCm39) E1844G probably benign Het
Ryr2 A G 13: 11,655,161 (GRCm39) C3679R probably damaging Het
Sirt1 A G 10: 63,157,782 (GRCm39) I544T probably benign Het
Slc26a10 A T 10: 127,012,716 (GRCm39) I382N possibly damaging Het
Sox2 C A 3: 34,705,121 (GRCm39) P186Q possibly damaging Het
Spata31e5 A T 1: 28,819,233 (GRCm39) M16K probably benign Het
Tnpo3 A G 6: 29,556,995 (GRCm39) L752P probably damaging Het
Top2b T A 14: 16,416,649 (GRCm38) N1136K probably benign Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Ttf2 C A 3: 100,870,618 (GRCm39) D152Y possibly damaging Het
Txndc15 T C 13: 55,862,601 (GRCm39) L4P unknown Het
Unc5a T C 13: 55,144,386 (GRCm39) V237A possibly damaging Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Vav3 C A 3: 109,535,415 (GRCm39) P616T possibly damaging Het
Vmn2r15 T A 5: 109,441,105 (GRCm39) D251V probably benign Het
Vmn2r15 A G 5: 109,445,388 (GRCm39) L12S probably benign Het
Wfs1 A C 5: 37,125,076 (GRCm39) I605S probably benign Het
Wif1 G A 10: 120,919,814 (GRCm39) R187Q possibly damaging Het
Yipf1 A G 4: 107,207,738 (GRCm39) probably null Het
Zdhhc20 G T 14: 58,111,377 (GRCm39) F74L possibly damaging Het
Zfp507 T C 7: 35,475,843 (GRCm39) T303A unknown Het
Zfp763 A T 17: 33,252,352 (GRCm39) probably benign Het
Other mutations in Nr4a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Nr4a3 APN 4 48,051,586 (GRCm39) missense possibly damaging 0.48
IGL01407:Nr4a3 APN 4 48,083,201 (GRCm39) missense probably benign 0.00
IGL01454:Nr4a3 APN 4 48,067,803 (GRCm39) missense probably damaging 1.00
IGL01472:Nr4a3 APN 4 48,071,133 (GRCm39) missense probably damaging 1.00
IGL02622:Nr4a3 APN 4 48,051,649 (GRCm39) missense probably benign 0.06
IGL03401:Nr4a3 APN 4 48,070,987 (GRCm39) splice site probably null
bulbous UTSW 4 48,083,255 (GRCm39) missense probably damaging 0.98
cronus UTSW 4 48,056,539 (GRCm39) missense probably damaging 1.00
I1329:Nr4a3 UTSW 4 48,051,585 (GRCm39) missense probably benign 0.12
R0486:Nr4a3 UTSW 4 48,056,525 (GRCm39) splice site probably benign
R0610:Nr4a3 UTSW 4 48,051,903 (GRCm39) missense probably benign 0.10
R1170:Nr4a3 UTSW 4 48,083,324 (GRCm39) missense probably benign 0.01
R1170:Nr4a3 UTSW 4 48,051,564 (GRCm39) missense probably damaging 0.98
R1440:Nr4a3 UTSW 4 48,051,777 (GRCm39) missense probably benign
R1977:Nr4a3 UTSW 4 48,056,539 (GRCm39) missense probably damaging 1.00
R2016:Nr4a3 UTSW 4 48,083,252 (GRCm39) missense probably damaging 1.00
R2046:Nr4a3 UTSW 4 48,067,807 (GRCm39) missense possibly damaging 0.82
R2055:Nr4a3 UTSW 4 48,067,771 (GRCm39) missense possibly damaging 0.86
R3707:Nr4a3 UTSW 4 48,056,699 (GRCm39) missense probably damaging 0.99
R3708:Nr4a3 UTSW 4 48,056,699 (GRCm39) missense probably damaging 0.99
R4246:Nr4a3 UTSW 4 48,083,125 (GRCm39) missense possibly damaging 0.86
R4657:Nr4a3 UTSW 4 48,051,522 (GRCm39) missense probably damaging 1.00
R4870:Nr4a3 UTSW 4 48,051,651 (GRCm39) missense possibly damaging 0.73
R5434:Nr4a3 UTSW 4 48,067,861 (GRCm39) missense probably damaging 1.00
R5539:Nr4a3 UTSW 4 48,056,525 (GRCm39) splice site probably null
R5663:Nr4a3 UTSW 4 48,055,931 (GRCm39) missense probably damaging 1.00
R6513:Nr4a3 UTSW 4 48,083,255 (GRCm39) missense probably damaging 0.98
R6664:Nr4a3 UTSW 4 48,056,006 (GRCm39) missense probably damaging 1.00
R6921:Nr4a3 UTSW 4 48,051,486 (GRCm39) missense probably benign 0.04
R6940:Nr4a3 UTSW 4 48,051,486 (GRCm39) missense probably benign 0.04
R7076:Nr4a3 UTSW 4 48,055,957 (GRCm39) missense probably damaging 1.00
R7322:Nr4a3 UTSW 4 48,083,238 (GRCm39) missense probably benign 0.00
R7347:Nr4a3 UTSW 4 48,051,290 (GRCm39) missense possibly damaging 0.94
R7348:Nr4a3 UTSW 4 48,051,290 (GRCm39) missense possibly damaging 0.94
R7349:Nr4a3 UTSW 4 48,051,290 (GRCm39) missense possibly damaging 0.94
R7361:Nr4a3 UTSW 4 48,083,203 (GRCm39) missense probably benign 0.00
R7366:Nr4a3 UTSW 4 48,051,290 (GRCm39) missense possibly damaging 0.94
R7418:Nr4a3 UTSW 4 48,051,476 (GRCm39) missense probably damaging 1.00
R7659:Nr4a3 UTSW 4 48,051,269 (GRCm39) missense probably damaging 1.00
R7895:Nr4a3 UTSW 4 48,051,390 (GRCm39) missense probably benign
R7986:Nr4a3 UTSW 4 48,055,954 (GRCm39) missense probably damaging 1.00
R8022:Nr4a3 UTSW 4 48,051,510 (GRCm39) missense probably damaging 1.00
R8226:Nr4a3 UTSW 4 48,056,588 (GRCm39) missense probably damaging 1.00
R8328:Nr4a3 UTSW 4 48,051,323 (GRCm39) missense probably damaging 1.00
R8349:Nr4a3 UTSW 4 48,052,170 (GRCm39) missense probably benign 0.40
R8403:Nr4a3 UTSW 4 48,051,348 (GRCm39) missense probably damaging 1.00
R8449:Nr4a3 UTSW 4 48,052,170 (GRCm39) missense probably benign 0.40
R8941:Nr4a3 UTSW 4 48,051,756 (GRCm39) missense possibly damaging 0.89
R9026:Nr4a3 UTSW 4 48,052,194 (GRCm39) missense possibly damaging 0.66
R9045:Nr4a3 UTSW 4 48,067,694 (GRCm39) missense possibly damaging 0.92
R9473:Nr4a3 UTSW 4 48,052,143 (GRCm39) missense probably damaging 1.00
R9572:Nr4a3 UTSW 4 48,051,258 (GRCm39) missense probably damaging 1.00
R9660:Nr4a3 UTSW 4 48,051,353 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCATTCAGTCTTTGCCAGCAG -3'
(R):5'- CTTCCATCTTGATCAAAGGCCG -3'

Sequencing Primer
(F):5'- CAGCAGGTGGGAGAGGATACC -3'
(R):5'- CCAGAAGGCGGCATTTGGTAC -3'
Posted On 2019-09-13