Incidental Mutation 'IGL01626:Rorc'
ID 92781
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rorc
Ensembl Gene ENSMUSG00000028150
Gene Name RAR-related orphan receptor gamma
Synonyms Thor, RORgamma, thymus orphan receptor
Accession Numbers
Essential gene? Probably essential (E-score: 0.865) question?
Stock # IGL01626
Quality Score
Status
Chromosome 3
Chromosomal Location 94280101-94305583 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94296094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 91 (D91G)
Ref Sequence ENSEMBL: ENSMUSP00000143763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029795] [ENSMUST00000197040] [ENSMUST00000200009]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029795
AA Change: D112G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029795
Gene: ENSMUSG00000028150
AA Change: D112G

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 damaging
Transcript: ENSMUST00000197040
AA Change: D91G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143763
Gene: ENSMUSG00000028150
AA Change: D91G

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 noncoding transcript
Transcript: ENSMUST00000198793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198829
Predicted Effect unknown
Transcript: ENSMUST00000200009
AA Change: D97G
SMART Domains Protein: ENSMUSP00000143610
Gene: ENSMUSG00000028150
AA Change: D97G

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
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A G 3: 59,926,595 (GRCm39) D188G probably damaging Het
Aoc1 A G 6: 48,883,465 (GRCm39) Y447C probably damaging Het
Brd1 A T 15: 88,585,090 (GRCm39) L915M probably damaging Het
Cacna2d3 T A 14: 28,665,564 (GRCm39) E152D possibly damaging Het
Dnase2b A G 3: 146,290,371 (GRCm39) probably null Het
Ecpas G A 4: 58,832,814 (GRCm39) probably benign Het
Fat4 T C 3: 39,005,181 (GRCm39) V1860A probably damaging Het
Fbxl5 C A 5: 43,916,047 (GRCm39) G455V probably benign Het
Fpr-rs4 G A 17: 18,242,493 (GRCm39) V167M probably damaging Het
Fut7 C A 2: 25,315,343 (GRCm39) Y153* probably null Het
Gnptab A G 10: 88,273,357 (GRCm39) T1045A probably damaging Het
Gucy1a1 T A 3: 82,015,926 (GRCm39) D354V probably damaging Het
Gucy2e A G 11: 69,123,681 (GRCm39) V406A possibly damaging Het
Herc2 T C 7: 55,734,890 (GRCm39) F160S probably benign Het
Ice2 T G 9: 69,314,614 (GRCm39) V42G probably benign Het
L3mbtl4 A G 17: 68,937,197 (GRCm39) Y406C probably damaging Het
Lepr C T 4: 101,590,731 (GRCm39) T103I probably benign Het
Ly75 T A 2: 60,131,359 (GRCm39) M1589L probably benign Het
Map4k3 A G 17: 80,913,238 (GRCm39) V644A probably damaging Het
Micall1 A G 15: 79,014,712 (GRCm39) D696G possibly damaging Het
Muc4 T C 16: 32,555,220 (GRCm39) V8A possibly damaging Het
Myo1h A G 5: 114,453,027 (GRCm39) D9G probably damaging Het
Nop14 T A 5: 34,806,689 (GRCm39) K472* probably null Het
Npat T A 9: 53,467,871 (GRCm39) D275E possibly damaging Het
Nt5c1b A G 12: 10,424,798 (GRCm39) T115A probably benign Het
Or2d3c A T 7: 106,526,627 (GRCm39) I13N probably benign Het
Or6n1 A G 1: 173,917,122 (GRCm39) N172S probably damaging Het
Pnpla7 T A 2: 24,940,905 (GRCm39) S1086T possibly damaging Het
Pold1 C T 7: 44,182,796 (GRCm39) probably null Het
Ppfia1 A G 7: 144,035,456 (GRCm39) F1165L probably benign Het
Prlr T A 15: 10,328,804 (GRCm39) D426E probably benign Het
Ptgs2 G A 1: 149,979,478 (GRCm39) R231H probably damaging Het
Scaper C T 9: 55,819,335 (GRCm39) V127M possibly damaging Het
Sema3g A T 14: 30,943,684 (GRCm39) Y188F probably damaging Het
Slc45a3 G T 1: 131,906,725 (GRCm39) A400S possibly damaging Het
Slc9b2 C A 3: 135,042,156 (GRCm39) H478Q probably benign Het
Spg11 T A 2: 121,891,452 (GRCm39) H1973L probably damaging Het
Srgap3 A G 6: 112,750,609 (GRCm39) Y359H probably damaging Het
Stx16 T G 2: 173,935,813 (GRCm39) I248S probably damaging Het
Sytl3 A G 17: 7,002,839 (GRCm39) R287G probably damaging Het
Tiam1 T C 16: 89,609,856 (GRCm39) T82A probably damaging Het
Trpm1 T C 7: 63,918,637 (GRCm39) L659P probably damaging Het
Ttc13 G A 8: 125,400,477 (GRCm39) probably benign Het
Unc80 T C 1: 66,590,213 (GRCm39) probably null Het
Vldlr G T 19: 27,221,173 (GRCm39) R613L probably damaging Het
Wdr77 C T 3: 105,867,002 (GRCm39) R35* probably null Het
Zc3h14 T G 12: 98,745,445 (GRCm39) I478R possibly damaging Het
Zfp366 A G 13: 99,364,920 (GRCm39) H27R probably damaging Het
Other mutations in Rorc
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7169:Rorc UTSW 3 94,296,487 (GRCm39) missense probably benign 0.00
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
Posted On 2013-12-09