Incidental Mutation 'R7922:Rorc'
ID 648424
Institutional Source Beutler Lab
Gene Symbol Rorc
Ensembl Gene ENSMUSG00000028150
Gene Name RAR-related orphan receptor gamma
Synonyms Thor, thymus orphan receptor, RORgamma
MMRRC Submission 045969-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.764) question?
Stock # R7922 (G1)
Quality Score 163.009
Status Not validated
Chromosome 3
Chromosomal Location 94372794-94398276 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94391188 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 348 (I348V)
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 damaging
Transcript: ENSMUST00000029795
AA Change: I348V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029795
Gene: ENSMUSG00000028150
AA Change: I348V

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: I327V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143763
Gene: ENSMUSG00000028150
AA Change: I327V

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

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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C T 12: 71,164,406 (GRCm38) T638M possibly damaging Het
4930546C10Rik A G 18: 68,949,996 (GRCm38) probably null Het
Abi3 A T 11: 95,832,793 (GRCm38) Y342N unknown Het
Adk G A 14: 21,318,043 (GRCm38) V195I probably benign Het
Ago2 C T 15: 73,126,526 (GRCm38) V268M possibly damaging Het
Apaf1 T C 10: 90,999,753 (GRCm38) I1077V probably benign Het
Arap1 A T 7: 101,404,414 (GRCm38) K1317* probably null Het
Auts2 T A 5: 131,440,373 (GRCm38) D493V Het
Baz1b A T 5: 135,231,679 (GRCm38) Q1110L probably damaging Het
Brsk2 T A 7: 141,993,220 (GRCm38) S467T possibly damaging Het
Btbd9 A T 17: 30,274,884 (GRCm38) M511K probably benign Het
Cdh23 T A 10: 60,382,706 (GRCm38) Y1385F probably benign Het
Cfap100 A C 6: 90,403,980 (GRCm38) L427V unknown Het
Cnga1 A G 5: 72,604,882 (GRCm38) F430L possibly damaging Het
Dnhd1 A T 7: 105,668,514 (GRCm38) D472V probably damaging Het
Dock2 T A 11: 34,707,327 (GRCm38) E339V probably benign Het
Eif3a A T 19: 60,775,842 (GRCm38) V379E probably damaging Het
Erich4 T A 7: 25,615,743 (GRCm38) N36Y probably damaging Het
Fam60a T A 6: 148,926,146 (GRCm38) T125S probably benign Het
Frem2 T C 3: 53,653,304 (GRCm38) T1261A probably damaging Het
Fzd6 A T 15: 39,031,108 (GRCm38) D223V probably damaging Het
Gabra2 A T 5: 71,007,972 (GRCm38) Y218* probably null Het
Gcn1l1 G T 5: 115,614,468 (GRCm38) M2177I probably benign Het
Ghr G A 15: 3,341,074 (GRCm38) T103I possibly damaging Het
Gipc1 T C 8: 83,661,228 (GRCm38) V79A probably benign Het
Gm10031 A T 1: 156,524,992 (GRCm38) L254F probably damaging Het
Gm13272 T A 4: 88,780,340 (GRCm38) V164D probably damaging Het
Gramd4 C A 15: 86,131,958 (GRCm38) H503Q probably benign Het
Gstm4 A T 3: 108,044,671 (GRCm38) M1K probably null Het
Heatr5b T A 17: 78,760,559 (GRCm38) Q1800L probably benign Het
Hectd1 T A 12: 51,790,195 (GRCm38) K826* probably null Het
Hoxa9 T C 6: 52,224,309 (GRCm38) I251V possibly damaging Het
Il2ra A T 2: 11,674,366 (GRCm38) I46F possibly damaging Het
Ints2 T A 11: 86,244,627 (GRCm38) R320S probably benign Het
Iscu A T 5: 113,774,282 (GRCm38) N46I probably damaging Het
Iscu G A 5: 113,774,349 (GRCm38) R60Q unknown Het
Kcnk3 A T 5: 30,588,531 (GRCm38) H72L probably damaging Het
Kmt2a T G 9: 44,842,860 (GRCm38) S1228R unknown Het
Mbl2 T A 19: 30,239,238 (GRCm38) L150Q probably damaging Het
Med13 A T 11: 86,271,005 (GRCm38) F2166Y probably damaging Het
Mterf4 A C 1: 93,301,553 (GRCm38) L246* probably null Het
Muc16 T C 9: 18,584,825 (GRCm38) Q6690R probably benign Het
Myh10 T A 11: 68,808,893 (GRCm38) L1722Q possibly damaging Het
Neurod2 T C 11: 98,327,628 (GRCm38) M237V probably benign Het
Olfml1 A G 7: 107,571,149 (GRCm38) Y81C probably damaging Het
Olfr735 A G 14: 50,346,415 (GRCm38) V9A probably benign Het
Pcdhga7 A T 18: 37,716,173 (GRCm38) N411I probably benign Het
Pcdhgb8 T C 18: 37,763,949 (GRCm38) F691L probably benign Het
Pik3c2a A G 7: 116,391,282 (GRCm38) V481A probably damaging Het
Pik3r6 A T 11: 68,533,875 (GRCm38) R435S probably benign Het
Pkd1l1 G A 11: 8,849,013 (GRCm38) H2250Y Het
Pkd1l1 A G 11: 8,909,857 (GRCm38) S1034P Het
Plcd1 C A 9: 119,074,652 (GRCm38) R400L possibly damaging Het
Ppp2r1a A G 17: 20,954,617 (GRCm38) T58A probably benign Het
Ppp5c T C 7: 17,027,800 (GRCm38) E5G possibly damaging Het
Pradc1 A C 6: 85,447,968 (GRCm38) F82L probably benign Het
Prkag3 A T 1: 74,741,257 (GRCm38) S416R probably benign Het
Rab3gap2 T C 1: 185,249,920 (GRCm38) C390R probably benign Het
Rhot1 A G 11: 80,265,803 (GRCm38) T655A probably benign Het
Ryr1 A T 7: 29,097,224 (GRCm38) V1051E probably benign Het
Sema5b GCAC GC 16: 35,658,256 (GRCm38) probably null Het
Serpinb3c G A 1: 107,272,014 (GRCm38) T259I probably damaging Het
Sh3gl1 A T 17: 56,019,438 (GRCm38) M70K probably damaging Het
Slc7a4 C T 16: 17,573,366 (GRCm38) V607I probably benign Het
Spop A T 11: 95,471,328 (GRCm38) N62Y probably damaging Het
Spout1 A G 2: 30,176,811 (GRCm38) F130S probably benign Het
Tab1 A G 15: 80,158,865 (GRCm38) H420R possibly damaging Het
Tecpr2 CA C 12: 110,932,642 (GRCm38) probably null Het
Tnxb G C 17: 34,714,603 (GRCm38) K2332N probably damaging Het
Togaram1 T C 12: 64,967,738 (GRCm38) Y588H probably damaging Het
Trim71 G A 9: 114,513,085 (GRCm38) R710C probably damaging Het
Tsen54 C T 11: 115,820,782 (GRCm38) Q342* probably null Het
Ube2r2 T A 4: 41,190,812 (GRCm38) N235K unknown Het
Utrn C A 10: 12,667,527 (GRCm38) K1792N possibly damaging Het
Vmn1r122 A G 7: 21,133,662 (GRCm38) I156T possibly damaging Het
Vmn1r94 T C 7: 20,167,711 (GRCm38) T223A possibly damaging Het
Vmn2r120 G A 17: 57,524,683 (GRCm38) R369W probably damaging Het
Vwa7 G T 17: 35,024,433 (GRCm38) A717S possibly damaging Het
Zc3h4 T A 7: 16,425,722 (GRCm38) C398S unknown Het
Zc3hc1 T A 6: 30,390,875 (GRCm38) E43V possibly damaging Het
Zfp101 A T 17: 33,381,537 (GRCm38) V415D possibly damaging Het
Zfp553 A G 7: 127,236,596 (GRCm38) H441R probably damaging Het
Other mutations in Rorc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01626:Rorc APN 3 94,388,787 (GRCm38) missense probably damaging 1.00
beto UTSW 3 94,377,608 (GRCm38) splice site probably null
brazil UTSW 3 94,389,519 (GRCm38) missense probably damaging 1.00
cashew UTSW 3 94,391,153 (GRCm38) missense probably damaging 1.00
chestnut UTSW 3 94,377,609 (GRCm38) splice site probably benign
macadamias UTSW 3 94,397,302 (GRCm38) nonsense probably null
macadamias2 UTSW 3 94,387,193 (GRCm38) missense probably damaging 1.00
R0014:Rorc UTSW 3 94,377,613 (GRCm38) splice site probably benign
R0115:Rorc UTSW 3 94,377,609 (GRCm38) splice site probably benign
R0365:Rorc UTSW 3 94,388,762 (GRCm38) missense probably damaging 1.00
R1470:Rorc UTSW 3 94,397,302 (GRCm38) nonsense probably null
R1470:Rorc UTSW 3 94,397,302 (GRCm38) nonsense probably null
R1914:Rorc UTSW 3 94,391,173 (GRCm38) missense probably damaging 1.00
R1915:Rorc UTSW 3 94,391,173 (GRCm38) missense probably damaging 1.00
R2142:Rorc UTSW 3 94,389,526 (GRCm38) missense probably benign 0.04
R2510:Rorc UTSW 3 94,389,120 (GRCm38) missense probably benign 0.30
R4135:Rorc UTSW 3 94,389,519 (GRCm38) missense probably damaging 1.00
R4181:Rorc UTSW 3 94,387,193 (GRCm38) missense probably damaging 1.00
R4574:Rorc UTSW 3 94,388,984 (GRCm38) missense probably benign 0.00
R4701:Rorc UTSW 3 94,391,710 (GRCm38) missense probably null 1.00
R5014:Rorc UTSW 3 94,391,153 (GRCm38) missense probably damaging 1.00
R5233:Rorc UTSW 3 94,397,325 (GRCm38) missense probably benign 0.26
R6758:Rorc UTSW 3 94,387,518 (GRCm38) missense possibly damaging 0.90
R7069:Rorc UTSW 3 94,372,907 (GRCm38) nonsense probably null
R7162:Rorc UTSW 3 94,377,608 (GRCm38) splice site probably null
R7169:Rorc UTSW 3 94,389,180 (GRCm38) missense probably benign 0.00
R7730:Rorc UTSW 3 94,393,114 (GRCm38) missense probably benign 0.43
R8365:Rorc UTSW 3 94,375,059 (GRCm38) missense probably benign 0.01
R9354:Rorc UTSW 3 94,372,863 (GRCm38) unclassified probably benign
X0063:Rorc UTSW 3 94,391,751 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-09-15