Incidental Mutation 'IGL01626:Rorc'
ID92781
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rorc
Ensembl Gene ENSMUSG00000028150
Gene NameRAR-related orphan receptor gamma
SynonymsThor, thymus orphan receptor, RORgamma
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.871) question?
Stock #IGL01626
Quality Score
Status
Chromosome3
Chromosomal Location94372794-94398276 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 94388787 bp
ZygosityHeterozygous
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]
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: 60,019,174 D188G probably damaging Het
AI314180 G A 4: 58,832,814 probably benign Het
Aoc1 A G 6: 48,906,531 Y447C probably damaging Het
Brd1 A T 15: 88,700,887 L915M probably damaging Het
Cacna2d3 T A 14: 28,943,607 E152D possibly damaging Het
Dnase2b A G 3: 146,584,616 probably null Het
Fat4 T C 3: 38,951,032 V1860A probably damaging Het
Fbxl5 C A 5: 43,758,705 G455V probably benign Het
Fpr-rs4 G A 17: 18,022,231 V167M probably damaging Het
Fut7 C A 2: 25,425,331 Y153* probably null Het
Gnptab A G 10: 88,437,495 T1045A probably damaging Het
Gucy1a1 T A 3: 82,108,619 D354V probably damaging Het
Gucy2e A G 11: 69,232,855 V406A possibly damaging Het
Herc2 T C 7: 56,085,142 F160S probably benign Het
Ice2 T G 9: 69,407,332 V42G probably benign Het
L3mbtl4 A G 17: 68,630,202 Y406C probably damaging Het
Lepr C T 4: 101,733,534 T103I probably benign Het
Ly75 T A 2: 60,301,015 M1589L probably benign Het
Map4k3 A G 17: 80,605,809 V644A probably damaging Het
Micall1 A G 15: 79,130,512 D696G possibly damaging Het
Muc4 T C 16: 32,736,402 V8A possibly damaging Het
Myo1h A G 5: 114,314,966 D9G probably damaging Het
Nop14 T A 5: 34,649,345 K472* probably null Het
Npat T A 9: 53,556,571 D275E possibly damaging Het
Nt5c1b A G 12: 10,374,798 T115A probably benign Het
Olfr429 A G 1: 174,089,556 N172S probably damaging Het
Olfr709-ps1 A T 7: 106,927,420 I13N probably benign Het
Pnpla7 T A 2: 25,050,893 S1086T possibly damaging Het
Pold1 C T 7: 44,533,372 probably null Het
Ppfia1 A G 7: 144,481,719 F1165L probably benign Het
Prlr T A 15: 10,328,718 D426E probably benign Het
Ptgs2 G A 1: 150,103,727 R231H probably damaging Het
Scaper C T 9: 55,912,051 V127M possibly damaging Het
Sema3g A T 14: 31,221,727 Y188F probably damaging Het
Slc45a3 G T 1: 131,978,987 A400S possibly damaging Het
Slc9b2 C A 3: 135,336,395 H478Q probably benign Het
Spg11 T A 2: 122,060,971 H1973L probably damaging Het
Srgap3 A G 6: 112,773,648 Y359H probably damaging Het
Stx16 T G 2: 174,094,020 I248S probably damaging Het
Sytl3 A G 17: 6,735,440 R287G probably damaging Het
Tiam1 T C 16: 89,812,968 T82A probably damaging Het
Trpm1 T C 7: 64,268,889 L659P probably damaging Het
Ttc13 G A 8: 124,673,738 probably benign Het
Unc80 T C 1: 66,551,054 probably null Het
Vldlr G T 19: 27,243,773 R613L probably damaging Het
Wdr77 C T 3: 105,959,686 R35* probably null Het
Zc3h14 T G 12: 98,779,186 I478R possibly damaging Het
Zfp366 A G 13: 99,228,412 H27R probably damaging Het
Other mutations in Rorc
AlleleSourceChrCoordTypePredicted EffectPPH Score
beto UTSW 3 94377608 splice site probably null
cashew UTSW 3 94391153 missense probably damaging 1.00
chestnut UTSW 3 94377609 splice site probably benign
macadamias UTSW 3 94397302 nonsense probably null
macadamias2 UTSW 3 94387193 missense probably damaging 1.00
R0014:Rorc UTSW 3 94377613 splice site probably benign
R0115:Rorc UTSW 3 94377609 splice site probably benign
R0365:Rorc UTSW 3 94388762 missense probably damaging 1.00
R1470:Rorc UTSW 3 94397302 nonsense probably null
R1470:Rorc UTSW 3 94397302 nonsense probably null
R1914:Rorc UTSW 3 94391173 missense probably damaging 1.00
R1915:Rorc UTSW 3 94391173 missense probably damaging 1.00
R2142:Rorc UTSW 3 94389526 missense probably benign 0.04
R2510:Rorc UTSW 3 94389120 missense probably benign 0.30
R4135:Rorc UTSW 3 94389519 missense probably damaging 1.00
R4181:Rorc UTSW 3 94387193 missense probably damaging 1.00
R4574:Rorc UTSW 3 94388984 missense probably benign 0.00
R4701:Rorc UTSW 3 94391710 missense probably null 1.00
R5014:Rorc UTSW 3 94391153 missense probably damaging 1.00
R5233:Rorc UTSW 3 94397325 missense probably benign 0.26
R6758:Rorc UTSW 3 94387518 missense possibly damaging 0.90
R7069:Rorc UTSW 3 94372907 nonsense probably null
R7162:Rorc UTSW 3 94377608 splice site probably null
R7169:Rorc UTSW 3 94389180 missense probably benign 0.00
X0063:Rorc UTSW 3 94391751 missense probably damaging 0.99
Posted On2013-12-09