Incidental Mutation 'R7169:Rorc'
ID 558108
Institutional Source Beutler Lab
Gene Symbol Rorc
Ensembl Gene ENSMUSG00000028150
Gene Name RAR-related orphan receptor gamma
Synonyms Thor, RORgamma, thymus orphan receptor
MMRRC Submission 045229-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.865) question?
Stock # R7169 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 94280101-94305583 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94296487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 243 (E243V)
Ref Sequence ENSEMBL: ENSMUSP00000029795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029795] [ENSMUST00000197040] [ENSMUST00000200009]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029795
AA Change: E243V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029795
Gene: ENSMUSG00000028150
AA Change: E243V

DomainStartEndE-ValueType
ZnF_C4 28 99 7.2e-37 SMART
low complexity region 116 133 N/A INTRINSIC
HOLI 320 474 3.78e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197040
AA Change: E222V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143763
Gene: ENSMUSG00000028150
AA Change: E222V

DomainStartEndE-ValueType
ZnF_C4 7 78 7.2e-37 SMART
low complexity region 95 112 N/A INTRINSIC
HOLI 299 453 3.78e-22 SMART
Predicted Effect unknown
Transcript: ENSMUST00000200009
AA Change: E228V
SMART Domains Protein: ENSMUSP00000143610
Gene: ENSMUSG00000028150
AA Change: E228V

DomainStartEndE-ValueType
ZnF_C4 13 84 7.2e-37 SMART
low complexity region 101 118 N/A INTRINSIC
PDB:3L0L|B 243 309 1e-22 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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 transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role in thymopoiesis. In addition, studies in mice suggest that the protein encoded by this gene may inhibit the expression of Fas ligand and IL2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit lack of peripheral and mesenteric lymph nodes and Peyer's patches, reduced numbers of thymocytes, and increased apoptosis with loss of thymic expression of anti-apoptosic factor Bcl-xL. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 A G 10: 61,040,707 (GRCm39) V870A probably damaging Het
Ahi1 T G 10: 20,930,918 (GRCm39) D919E probably damaging Het
Angptl6 T A 9: 20,786,475 (GRCm39) R390S probably damaging Het
Arhgef11 A G 3: 87,634,755 (GRCm39) I873V possibly damaging Het
BC024063 T C 10: 81,946,293 (GRCm39) Y638H possibly damaging Het
Brsk1 T C 7: 4,718,403 (GRCm39) S751P probably benign Het
Calhm5 T A 10: 33,968,160 (GRCm39) T298S probably damaging Het
Cdh20 G A 1: 104,875,078 (GRCm39) A287T possibly damaging Het
Clic3 G A 2: 25,348,731 (GRCm39) R237H probably benign Het
Cog6 G T 3: 52,897,387 (GRCm39) P562H possibly damaging Het
Csnk2a2 A G 8: 96,215,006 (GRCm39) Y24H Het
Ctif T C 18: 75,605,087 (GRCm39) D484G probably damaging Het
Cyria A G 12: 12,409,233 (GRCm39) D71G possibly damaging Het
Dennd6b A T 15: 89,073,055 (GRCm39) F161I possibly damaging Het
Dnah14 G T 1: 181,529,930 (GRCm39) V2235L probably benign Het
Dnah6 A T 6: 73,015,729 (GRCm39) V3636D probably damaging Het
Dpm1 A T 2: 168,053,343 (GRCm39) Y207* probably null Het
Eml3 A G 19: 8,910,828 (GRCm39) T227A probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Eppk1 C A 15: 75,990,114 (GRCm39) A2256S probably benign Het
Etnppl A T 3: 130,414,345 (GRCm39) N80I probably damaging Het
Eya4 A T 10: 23,031,845 (GRCm39) N236K probably benign Het
Gm12886 T G 4: 121,273,948 (GRCm39) Q89H probably damaging Het
Gsdme T C 6: 50,204,358 (GRCm39) T200A probably benign Het
Hipk1 C T 3: 103,651,533 (GRCm39) A1122T probably benign Het
Icos A G 1: 61,034,705 (GRCm39) D176G probably damaging Het
Igkv5-43 T A 6: 69,800,519 (GRCm39) Y56F probably damaging Het
Il1r1 T C 1: 40,332,519 (GRCm39) probably null Het
Ildr2 G A 1: 166,135,503 (GRCm39) probably null Het
Ilf3 T A 9: 21,306,722 (GRCm39) H305Q probably damaging Het
Insrr A G 3: 87,715,901 (GRCm39) H532R probably benign Het
Lmbr1l CACTACATACTACATACTACATACTACATACTACATACTACATAC CACTACATACTACATACTACATACTACATACTACATACTACATACTACATAC 15: 98,807,039 (GRCm39) probably null Het
Lmbr1l ACTACAT ACTACATGCTACAT 15: 98,807,075 (GRCm39) probably benign Het
Lratd1 A G 12: 14,200,619 (GRCm39) F36S probably damaging Het
Lrrc25 T G 8: 71,070,437 (GRCm39) S73A probably benign Het
Lrrn1 T C 6: 107,544,565 (GRCm39) L121P probably damaging Het
Ly6c1 C A 15: 74,916,495 (GRCm39) V116L probably benign Het
Meltf A G 16: 31,698,980 (GRCm39) D30G probably benign Het
Mroh7 T A 4: 106,548,836 (GRCm39) D1009V probably damaging Het
Mybpc3 T C 2: 90,948,524 (GRCm39) V4A possibly damaging Het
Mycbp2 A G 14: 103,497,636 (GRCm39) S979P possibly damaging Het
Ntn5 C T 7: 45,336,198 (GRCm39) R210* probably null Het
Nuak1 T C 10: 84,210,609 (GRCm39) D493G probably damaging Het
Oprk1 T A 1: 5,659,304 (GRCm39) D11E probably benign Het
Or13a1 G T 6: 116,471,025 (GRCm39) A152S probably benign Het
Or4f14 A G 2: 111,742,939 (GRCm39) M112T possibly damaging Het
Or4k37 T A 2: 111,158,943 (GRCm39) Y60N probably damaging Het
Or56a41 T C 7: 104,740,397 (GRCm39) I150V possibly damaging Het
Pkd1l2 T A 8: 117,767,574 (GRCm39) T1239S possibly damaging Het
Pkm A G 9: 59,578,908 (GRCm39) D296G possibly damaging Het
Pof1b A G X: 111,554,042 (GRCm39) I544T probably benign Het
Pop5 T A 5: 115,378,287 (GRCm39) V77E possibly damaging Het
Ppp1r10 T C 17: 36,240,365 (GRCm39) S552P probably damaging Het
Rabggta C G 14: 55,958,358 (GRCm39) R101P probably damaging Het
Setmar C A 6: 108,042,049 (GRCm39) A3E possibly damaging Het
Skor2 T A 18: 76,948,681 (GRCm39) V801E probably benign Het
Slc12a7 G A 13: 73,932,679 (GRCm39) V56M probably benign Het
Snph T A 2: 151,436,307 (GRCm39) N207I probably damaging Het
Snx14 A G 9: 88,280,362 (GRCm39) V531A probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tlr3 A T 8: 45,850,056 (GRCm39) M871K probably damaging Het
Tnfrsf11a A T 1: 105,772,421 (GRCm39) R569S possibly damaging Het
Trim66 A G 7: 109,054,328 (GRCm39) V1294A probably benign Het
Vldlr G A 19: 27,221,728 (GRCm39) V698I probably benign Het
Vmn2r73 G A 7: 85,507,663 (GRCm39) Q550* probably null Het
Zdhhc5 A T 2: 84,532,675 (GRCm39) probably null Het
Zfhx3 T A 8: 109,678,030 (GRCm39) Y3027N possibly damaging Het
Zfp663 C T 2: 165,194,359 (GRCm39) S620N probably benign Het
Other mutations in Rorc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01626:Rorc APN 3 94,296,094 (GRCm39) missense probably damaging 1.00
beto UTSW 3 94,284,915 (GRCm39) splice site probably null
brazil UTSW 3 94,296,826 (GRCm39) missense probably damaging 1.00
cashew UTSW 3 94,298,460 (GRCm39) missense probably damaging 1.00
chestnut UTSW 3 94,284,916 (GRCm39) splice site probably benign
macadamias UTSW 3 94,304,609 (GRCm39) nonsense probably null
macadamias2 UTSW 3 94,294,500 (GRCm39) missense probably damaging 1.00
R0014:Rorc UTSW 3 94,284,920 (GRCm39) splice site probably benign
R0115:Rorc UTSW 3 94,284,916 (GRCm39) splice site probably benign
R0365:Rorc UTSW 3 94,296,069 (GRCm39) missense probably damaging 1.00
R1470:Rorc UTSW 3 94,304,609 (GRCm39) nonsense probably null
R1470:Rorc UTSW 3 94,304,609 (GRCm39) nonsense probably null
R1914:Rorc UTSW 3 94,298,480 (GRCm39) missense probably damaging 1.00
R1915:Rorc UTSW 3 94,298,480 (GRCm39) missense probably damaging 1.00
R2142:Rorc UTSW 3 94,296,833 (GRCm39) missense probably benign 0.04
R2510:Rorc UTSW 3 94,296,427 (GRCm39) missense probably benign 0.30
R4135:Rorc UTSW 3 94,296,826 (GRCm39) missense probably damaging 1.00
R4181:Rorc UTSW 3 94,294,500 (GRCm39) missense probably damaging 1.00
R4574:Rorc UTSW 3 94,296,291 (GRCm39) missense probably benign 0.00
R4701:Rorc UTSW 3 94,299,017 (GRCm39) missense probably null 1.00
R5014:Rorc UTSW 3 94,298,460 (GRCm39) missense probably damaging 1.00
R5233:Rorc UTSW 3 94,304,632 (GRCm39) missense probably benign 0.26
R6758:Rorc UTSW 3 94,294,825 (GRCm39) missense possibly damaging 0.90
R7069:Rorc UTSW 3 94,280,214 (GRCm39) nonsense probably null
R7162:Rorc UTSW 3 94,284,915 (GRCm39) splice site probably null
R7730:Rorc UTSW 3 94,300,421 (GRCm39) missense probably benign 0.43
R7922:Rorc UTSW 3 94,298,495 (GRCm39) missense probably damaging 0.98
R8365:Rorc UTSW 3 94,282,366 (GRCm39) missense probably benign 0.01
R9354:Rorc UTSW 3 94,280,170 (GRCm39) unclassified probably benign
X0063:Rorc UTSW 3 94,299,058 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCTTGGCCAAAACAGAGGTC -3'
(R):5'- AGTTCATAAAGAGGCCCTCTGC -3'

Sequencing Primer
(F):5'- CCAAAACAGAGGTCCAGGG -3'
(R):5'- GTCCAGGATCCCTAATTCCTTAG -3'
Posted On 2019-06-26