Incidental Mutation 'R5014:Rorc'
ID 385415
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 042605-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.865) question?
Stock # R5014 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 94280101-94305583 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 94298460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 315 (L315R)
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: L336R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029795
Gene: ENSMUSG00000028150
AA Change: L336R

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: L315R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143763
Gene: ENSMUSG00000028150
AA Change: L315R

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 probably benign
Transcript: ENSMUST00000200009
SMART Domains Protein: ENSMUSP00000143610
Gene: ENSMUSG00000028150

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
Meta Mutation Damage Score 0.8039 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.4%
  • 20x: 91.7%
Validation Efficiency 97% (83/86)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,520,896 (GRCm39) T1353A probably benign Het
Abca8b A T 11: 109,840,957 (GRCm39) I1072N probably damaging Het
Atp1a2 T C 1: 172,112,438 (GRCm39) T517A probably benign Het
Blk T G 14: 63,617,236 (GRCm39) N257T probably benign Het
Brd4 A T 17: 32,417,372 (GRCm39) probably benign Het
Calr4 C T 4: 109,092,994 (GRCm39) Q25* probably null Het
Cbl T C 9: 44,065,696 (GRCm39) probably null Het
Ccdc30 T G 4: 119,250,824 (GRCm39) H6P possibly damaging Het
Cd101 A C 3: 100,911,139 (GRCm39) Y840D probably damaging Het
Cd68 T A 11: 69,556,165 (GRCm39) N178Y probably damaging Het
Cep350 T C 1: 155,803,952 (GRCm39) T1044A probably benign Het
Cfap46 A G 7: 139,207,291 (GRCm39) V1876A probably benign Het
Clec2g T A 6: 128,925,765 (GRCm39) M58K probably benign Het
Clip1 T C 5: 123,755,793 (GRCm39) E860G probably damaging Het
Col18a1 C T 10: 76,906,794 (GRCm39) probably null Het
Cul7 A G 17: 46,966,868 (GRCm39) *650W probably null Het
Dkk4 C T 8: 23,115,315 (GRCm39) A55V probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dnai7 T C 6: 145,128,992 (GRCm39) E407G probably damaging Het
Dnase1 C A 16: 3,856,880 (GRCm39) Y170* probably null Het
Dnmt1 A C 9: 20,823,550 (GRCm39) I1019S probably benign Het
Epha6 T A 16: 59,486,942 (GRCm39) H1035L probably benign Het
Fam124b T C 1: 80,177,776 (GRCm39) T408A probably benign Het
Fam227b G A 2: 125,958,043 (GRCm39) P241S probably damaging Het
Galnt7 T C 8: 57,998,414 (GRCm39) E305G probably damaging Het
Garin1b C T 6: 29,326,723 (GRCm39) probably benign Het
Git1 T A 11: 77,389,821 (GRCm39) V28E probably damaging Het
Gm10010 C T 6: 128,177,556 (GRCm39) noncoding transcript Het
Gm4956 T C 1: 21,363,821 (GRCm39) noncoding transcript Het
Gpr152 T G 19: 4,193,506 (GRCm39) V349G probably benign Het
Gtsf1l C T 2: 162,929,112 (GRCm39) V124I probably damaging Het
Gucy1b1 C G 3: 81,953,974 (GRCm39) G114A probably benign Het
Hk2 T C 6: 82,720,936 (GRCm39) Q166R possibly damaging Het
Hook2 A G 8: 85,718,006 (GRCm39) I44M probably damaging Het
Ildr1 T A 16: 36,541,921 (GRCm39) M222K probably damaging Het
Ints6 A T 14: 62,997,640 (GRCm39) F55Y probably benign Het
Kcnh1 A G 1: 191,959,388 (GRCm39) N314S probably damaging Het
Lpin3 T C 2: 160,746,748 (GRCm39) F748L probably damaging Het
Lrsam1 T C 2: 32,826,407 (GRCm39) probably benign Het
Msh2 A T 17: 88,025,004 (GRCm39) K627N possibly damaging Het
Myrip A G 9: 120,251,534 (GRCm39) Q219R probably damaging Het
Ndufb3 T A 1: 58,630,401 (GRCm39) W51R probably damaging Het
Nfasc A T 1: 132,512,185 (GRCm39) probably benign Het
Or2c1 T A 16: 3,656,912 (GRCm39) I25N probably benign Het
Or2h2 T A 17: 37,396,446 (GRCm39) I204F probably benign Het
Or8s8 T C 15: 98,354,857 (GRCm39) V222A possibly damaging Het
P3h3 T A 6: 124,832,199 (GRCm39) E229V probably damaging Het
Ppfia2 T A 10: 106,701,224 (GRCm39) L837* probably null Het
Ppp2r1a G A 17: 21,179,101 (GRCm39) probably null Het
Rabgap1 T A 2: 37,377,152 (GRCm39) V328E probably damaging Het
Ralgapb G A 2: 158,337,455 (GRCm39) R1138Q probably damaging Het
Ranbp2 A T 10: 58,299,942 (GRCm39) Q498L probably benign Het
Rbx1 T A 15: 81,355,161 (GRCm39) C56S probably damaging Het
Rcan2 T C 17: 44,328,704 (GRCm39) F45S probably damaging Het
Rgs20 T C 1: 4,980,770 (GRCm39) Y185C probably damaging Het
Skic2 A G 17: 35,066,401 (GRCm39) V194A probably benign Het
Slc13a2 T C 11: 78,290,987 (GRCm39) K406E possibly damaging Het
Slc35g3 T A 11: 69,651,866 (GRCm39) K62* probably null Het
Sox30 T C 11: 45,882,736 (GRCm39) S589P probably benign Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Ssh2 T A 11: 77,346,102 (GRCm39) C1362* probably null Het
Tecta C T 9: 42,284,538 (GRCm39) C849Y probably damaging Het
Thbs1 T A 2: 117,950,518 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tut4 T C 4: 108,384,043 (GRCm39) probably benign Het
Tyk2 C T 9: 21,027,126 (GRCm39) probably null Het
Tyw5 C A 1: 57,446,004 (GRCm39) probably benign Het
Vcp T C 4: 42,980,828 (GRCm39) T761A probably benign Het
Wdfy4 A T 14: 32,822,897 (GRCm39) C1401S probably benign Het
Wiz T C 17: 32,578,340 (GRCm39) N391D probably damaging Het
Ylpm1 G A 12: 85,061,523 (GRCm39) E475K unknown Het
Zfp108 G T 7: 23,960,163 (GRCm39) K251N probably benign Het
Zfp184 A G 13: 22,142,594 (GRCm39) D100G probably benign Het
Zfp990 T A 4: 145,264,669 (GRCm39) C556S possibly damaging Het
Zkscan16 C T 4: 58,951,892 (GRCm39) P189L probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- ACTGTAACTCACTGACAGGCAC -3'
(R):5'- CTTGTTAAGCCCTCGGTGTC -3'

Sequencing Primer
(F):5'- GACCCTGGCTACATTTGTGCTAATAG -3'
(R):5'- GGTGTCTTGATTTCCTTAAGTCAC -3'
Posted On 2016-05-10