Incidental Mutation 'R2510:Rorc'
ID 251915
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 040416-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.865) question?
Stock # R2510 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 94280101-94305583 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 94296427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 208 (T208I)
Ref Sequence ENSEMBL: ENSMUSP00000143610 (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: T223I

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000029795
Gene: ENSMUSG00000028150
AA Change: T223I

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: T202I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000143763
Gene: ENSMUSG00000028150
AA Change: T202I

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
AA Change: T208I

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143610
Gene: ENSMUSG00000028150
AA Change: T208I

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 0.1377 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 99% (77/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930571K23Rik C A 7: 124,968,311 (GRCm39) noncoding transcript Het
Adra1d C A 2: 131,404,055 (GRCm39) E12* probably null Het
Ago4 A T 4: 126,410,864 (GRCm39) D208E probably damaging Het
Agrn A T 4: 156,250,881 (GRCm39) probably null Het
Atxn2 C T 5: 121,919,456 (GRCm39) S388L probably damaging Het
Bbox1 A T 2: 110,135,976 (GRCm39) M1K probably null Het
Btaf1 G A 19: 36,979,845 (GRCm39) R1538H probably benign Het
Car11 G A 7: 45,350,783 (GRCm39) G93E probably damaging Het
Col18a1 A G 10: 76,932,102 (GRCm39) L329P unknown Het
Copb2 T A 9: 98,453,701 (GRCm39) probably benign Het
Cracdl T C 1: 37,664,381 (GRCm39) M506V probably benign Het
Dnah2 G T 11: 69,415,032 (GRCm39) S234* probably null Het
Dnah9 T C 11: 65,895,995 (GRCm39) Y2460C probably damaging Het
Dnai2 G C 11: 114,647,993 (GRCm39) probably benign Het
Dst C A 1: 34,251,367 (GRCm39) T1814K probably benign Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Fancm A T 12: 65,160,544 (GRCm39) probably benign Het
Fsip2 T C 2: 82,816,782 (GRCm39) S4172P probably benign Het
G530012D18Rik T G 1: 85,504,925 (GRCm39) probably benign Het
Gca T G 2: 62,520,318 (GRCm39) S159R probably damaging Het
Gja8 T G 3: 96,827,033 (GRCm39) T210P probably damaging Het
Gm5117 T A 8: 32,228,383 (GRCm39) noncoding transcript Het
Gm5900 T A 7: 104,599,571 (GRCm39) noncoding transcript Het
Gpi1 A G 7: 33,905,348 (GRCm39) S359P probably damaging Het
Grm5 A G 7: 87,685,299 (GRCm39) E472G probably benign Het
Gsta5 T A 9: 78,202,089 (GRCm39) M1K probably null Het
Hoxd12 G A 2: 74,505,815 (GRCm39) A129T possibly damaging Het
Ifnlr1 G T 4: 135,432,559 (GRCm39) D332Y probably damaging Het
Ift140 T C 17: 25,255,282 (GRCm39) I466T probably benign Het
Kansl2 A G 15: 98,426,742 (GRCm39) probably null Het
Kat2a T C 11: 100,602,968 (GRCm39) Q88R probably benign Het
Kcnh7 T C 2: 62,552,261 (GRCm39) D910G probably benign Het
Klk1b1 T C 7: 43,618,803 (GRCm39) V60A probably damaging Het
Krt7 A C 15: 101,310,538 (GRCm39) I62L probably benign Het
Llgl1 A G 11: 60,600,862 (GRCm39) K653E probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Maco1 A G 4: 134,531,699 (GRCm39) S657P probably damaging Het
Mafb T G 2: 160,208,496 (GRCm39) E34A probably damaging Het
Meiob T C 17: 25,035,571 (GRCm39) probably benign Het
Mllt10 C A 2: 18,069,935 (GRCm39) D30E possibly damaging Het
Mprip T A 11: 59,640,334 (GRCm39) probably benign Het
Muc5b A T 7: 141,412,798 (GRCm39) N1915Y unknown Het
Mycbp2 C T 14: 103,392,691 (GRCm39) R3290Q probably damaging Het
Ntaq1 C A 15: 58,017,020 (GRCm39) A145D probably damaging Het
Obscn G A 11: 58,933,140 (GRCm39) probably benign Het
Olfm3 T A 3: 114,915,959 (GRCm39) V277D probably damaging Het
Omp A T 7: 97,794,552 (GRCm39) M25K possibly damaging Het
Or10d4b T A 9: 39,534,727 (GRCm39) F101I probably damaging Het
Or4b12 C T 2: 90,095,950 (GRCm39) V275I probably damaging Het
Or4k40 G A 2: 111,250,796 (GRCm39) P167S possibly damaging Het
Or52n2c G A 7: 104,574,894 (GRCm39) H26Y probably benign Het
Otoa C T 7: 120,759,695 (GRCm39) T1099I probably benign Het
Pcdh15 T G 10: 74,467,331 (GRCm39) S1715A probably benign Het
Pcnx4 T C 12: 72,613,746 (GRCm39) W564R probably damaging Het
Pde12 T C 14: 26,386,681 (GRCm39) *609W probably null Het
Pitpnm2 T C 5: 124,274,389 (GRCm39) E240G probably damaging Het
Plppr4 G T 3: 117,125,355 (GRCm39) N161K probably damaging Het
Ppp1r37 T C 7: 19,266,357 (GRCm39) K470E possibly damaging Het
Pramel27 G A 4: 143,578,561 (GRCm39) V274I probably benign Het
Ptprd C A 4: 76,004,248 (GRCm39) probably null Het
Rgs9 T C 11: 109,159,798 (GRCm39) Y178C probably benign Het
Rims2 T G 15: 39,449,048 (GRCm39) S1217R probably damaging Het
Ryr3 C T 2: 112,506,249 (GRCm39) E3458K probably benign Het
Scn5a A T 9: 119,362,751 (GRCm39) V623E probably benign Het
Slc28a2 C T 2: 122,281,497 (GRCm39) Q229* probably null Het
Slc35f3 C T 8: 127,025,445 (GRCm39) probably benign Het
Spg11 T G 2: 121,905,791 (GRCm39) I1285L probably benign Het
Sstr2 A T 11: 113,515,749 (GRCm39) I223F probably damaging Het
Susd1 A T 4: 59,349,855 (GRCm39) V527E possibly damaging Het
Tas1r2 A G 4: 139,387,162 (GRCm39) N207S probably damaging Het
Trappc10 A G 10: 78,047,357 (GRCm39) S380P possibly damaging Het
Ttn T C 2: 76,571,336 (GRCm39) D26519G probably damaging Het
Vmn1r215 A G 13: 23,260,343 (GRCm39) I128V probably benign Het
Vmn1r37 T C 6: 66,708,935 (GRCm39) L150P probably damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r52 G T 7: 9,904,795 (GRCm39) A348E probably benign Het
Ypel5 T C 17: 73,153,386 (GRCm39) L30P probably damaging Het
Zfp985 A G 4: 147,667,443 (GRCm39) T104A possibly 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
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
Predicted Primers PCR Primer
(F):5'- TTTAGGGCTCTCAGATGGGC -3'
(R):5'- AATGCTTGATTACATGGGCAC -3'

Sequencing Primer
(F):5'- TCTCAGATGGGCAGCTACCAC -3'
(R):5'- ACCGTGCTGGAGGAAGTTC -3'
Posted On 2014-12-04