Incidental Mutation 'R8121:Rarg'
ID 631526
Institutional Source Beutler Lab
Gene Symbol Rarg
Ensembl Gene ENSMUSG00000001288
Gene Name retinoic acid receptor, gamma
Synonyms RAR gamma 2, RARgamma2
MMRRC Submission 067550-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.741) question?
Stock # R8121 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 102143373-102165891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102148393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 238 (I238T)
Ref Sequence ENSEMBL: ENSMUSP00000048838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043172] [ENSMUST00000063339] [ENSMUST00000130204] [ENSMUST00000135466] [ENSMUST00000155563]
AlphaFold P18911
Predicted Effect probably damaging
Transcript: ENSMUST00000043172
AA Change: I238T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048838
Gene: ENSMUSG00000001288
AA Change: I238T

DomainStartEndE-ValueType
low complexity region 10 32 N/A INTRINSIC
low complexity region 75 84 N/A INTRINSIC
ZnF_C4 87 158 1.53e-40 SMART
HOLI 232 390 9.07e-34 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000063339
AA Change: I227T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067266
Gene: ENSMUSG00000001288
AA Change: I227T

DomainStartEndE-ValueType
low complexity region 10 29 N/A INTRINSIC
low complexity region 48 61 N/A INTRINSIC
low complexity region 64 73 N/A INTRINSIC
ZnF_C4 76 147 1.53e-40 SMART
HOLI 221 379 9.07e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130204
Predicted Effect probably benign
Transcript: ENSMUST00000135466
SMART Domains Protein: ENSMUSP00000118615
Gene: ENSMUSG00000001288

DomainStartEndE-ValueType
low complexity region 10 32 N/A INTRINSIC
low complexity region 75 84 N/A INTRINSIC
ZnF_C4 87 158 1.53e-40 SMART
PDB:1EXX|A 178 227 5e-28 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000155563
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.1%
  • 20x: 97.3%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a retinoic acid receptor that belongs to the nuclear hormone receptor family. Retinoic acid receptors (RARs) act as ligand-dependent transcriptional regulators. When bound to ligands, RARs activate transcription by binding as heterodimers to the retinoic acid response elements (RARE) found in the promoter regions of the target genes. In their unbound form, RARs repress transcription of their target genes. RARs are involved in various biological processes, including limb bud development, skeletal growth, and matrix homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit stunted growth, homeotic transformations of the rostral axial skeleton and tracheal cartilage, Harderian gland agenesis, high postnatal mortality, and male sterility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A T 6: 83,138,893 (GRCm39) M273L probably benign Het
Abi3bp A T 16: 56,452,241 (GRCm39) K912N unknown Het
Arfgap2 T C 2: 91,096,028 (GRCm39) F62L probably benign Het
Arhgap45 A G 10: 79,853,909 (GRCm39) E141G probably damaging Het
Atraid G A 5: 31,211,642 (GRCm39) probably null Het
Cd101 G A 3: 100,927,898 (GRCm39) A65V probably damaging Het
Cd177 A G 7: 24,459,067 (GRCm39) V114A probably benign Het
Cdh6 T C 15: 13,044,757 (GRCm39) N455S probably damaging Het
Cdk14 A T 5: 5,277,195 (GRCm39) S145T possibly damaging Het
Ces1h T C 8: 94,080,104 (GRCm39) E470G unknown Het
Cfap58 A G 19: 48,017,543 (GRCm39) Y801C probably benign Het
Clec2d C T 6: 129,161,847 (GRCm39) T160M probably benign Het
Cryz A G 3: 154,327,382 (GRCm39) I269V probably benign Het
Ctdp1 A T 18: 80,499,223 (GRCm39) Y240N probably damaging Het
Dapk1 A G 13: 60,909,212 (GRCm39) Y1275C probably damaging Het
Dnah9 A G 11: 65,908,201 (GRCm39) I2385T probably benign Het
Dpp8 A G 9: 64,985,362 (GRCm39) M807V probably benign Het
Entpd3 T A 9: 120,384,720 (GRCm39) I99N probably damaging Het
Fbxw11 A G 11: 32,670,646 (GRCm39) E204G possibly damaging Het
Fscn1 T C 5: 142,946,616 (GRCm39) M138T probably damaging Het
Gm5114 T A 7: 39,057,552 (GRCm39) Q689L probably benign Het
Iqgap2 T C 13: 95,861,076 (GRCm39) N350S probably benign Het
Kcnj10 T A 1: 172,196,809 (GRCm39) C108S probably damaging Het
Krtap10-4 G A 10: 77,662,840 (GRCm39) R13C unknown Het
Lmo7 T C 14: 102,163,736 (GRCm39) I1527T unknown Het
Lrrc17 A G 5: 21,775,329 (GRCm39) K297R probably benign Het
Ltb4r1 G A 14: 56,005,579 (GRCm39) R294H probably damaging Het
Macc1 A G 12: 119,410,324 (GRCm39) D364G probably damaging Het
Mavs A C 2: 131,087,395 (GRCm39) T298P probably damaging Het
Myh8 G T 11: 67,180,647 (GRCm39) A628S probably benign Het
Neurl4 A T 11: 69,799,056 (GRCm39) probably null Het
Nicn1 C A 9: 108,172,304 (GRCm39) T213K probably damaging Het
Nptx1 G A 11: 119,433,492 (GRCm39) T369I probably damaging Het
Nt5c1a T C 4: 123,102,235 (GRCm39) S54P probably damaging Het
Nup210l G A 3: 90,022,428 (GRCm39) R132Q probably damaging Het
Or2b11 A T 11: 59,461,870 (GRCm39) I232N probably damaging Het
Or4k41 A G 2: 111,279,505 (GRCm39) T7A probably benign Het
Or4p18 A T 2: 88,233,040 (GRCm39) F79L probably benign Het
Or7g22 G A 9: 19,048,988 (GRCm39) G233E probably damaging Het
Pip5k1b A T 19: 24,337,355 (GRCm39) I311N probably damaging Het
Pkdrej C T 15: 85,699,655 (GRCm39) V2094I probably benign Het
Pla2g2f A G 4: 138,479,621 (GRCm39) Y179H probably damaging Het
Plekha3 A T 2: 76,516,992 (GRCm39) T115S probably damaging Het
Ppp4c A G 7: 126,386,496 (GRCm39) L167P probably damaging Het
Pramel28 T A 4: 143,691,611 (GRCm39) S371C probably benign Het
Scn7a A T 2: 66,531,203 (GRCm39) I558N probably damaging Het
Sema3a C A 5: 13,649,215 (GRCm39) H655N probably damaging Het
Serpinb6c T C 13: 34,064,201 (GRCm39) M285V probably benign Het
Setx T A 2: 29,035,046 (GRCm39) S510R possibly damaging Het
Sgcz A G 8: 37,990,457 (GRCm39) S299P probably damaging Het
Slc12a2 T A 18: 58,032,403 (GRCm39) F368I probably benign Het
Slc7a9 C A 7: 35,153,542 (GRCm39) T181K probably damaging Het
Slco2b1 G A 7: 99,334,760 (GRCm39) T237M probably benign Het
Spg11 A G 2: 121,900,348 (GRCm39) probably null Het
Tbc1d22b G T 17: 29,791,945 (GRCm39) G225V probably damaging Het
Tbcd A G 11: 121,487,969 (GRCm39) probably null Het
Unc93a T C 17: 13,328,560 (GRCm39) Y431C probably benign Het
Vmn1r65 C T 7: 6,011,464 (GRCm39) V257I possibly damaging Het
Vmn2r124 A T 17: 18,282,433 (GRCm39) T154S probably benign Het
Wnk2 A T 13: 49,214,415 (GRCm39) L1487* probably null Het
Zfp853 G A 5: 143,274,018 (GRCm39) A549V probably damaging Het
Zfp936 C T 7: 42,839,547 (GRCm39) T338I possibly damaging Het
Other mutations in Rarg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02877:Rarg APN 15 102,150,374 (GRCm39) splice site probably null
R0033:Rarg UTSW 15 102,147,270 (GRCm39) missense probably damaging 0.99
R0539:Rarg UTSW 15 102,147,312 (GRCm39) missense probably damaging 1.00
R1137:Rarg UTSW 15 102,149,595 (GRCm39) missense probably damaging 1.00
R1593:Rarg UTSW 15 102,148,376 (GRCm39) missense probably damaging 1.00
R1916:Rarg UTSW 15 102,160,880 (GRCm39) missense probably benign 0.00
R1926:Rarg UTSW 15 102,147,980 (GRCm39) missense probably damaging 1.00
R2057:Rarg UTSW 15 102,147,939 (GRCm39) missense probably damaging 0.99
R2211:Rarg UTSW 15 102,147,959 (GRCm39) missense probably benign 0.20
R4581:Rarg UTSW 15 102,160,986 (GRCm39) missense possibly damaging 0.70
R5718:Rarg UTSW 15 102,149,502 (GRCm39) missense probably damaging 1.00
R6197:Rarg UTSW 15 102,150,327 (GRCm39) missense possibly damaging 0.94
R6991:Rarg UTSW 15 102,150,350 (GRCm39) missense probably damaging 1.00
R7300:Rarg UTSW 15 102,160,852 (GRCm39) critical splice donor site probably null
R8104:Rarg UTSW 15 102,148,334 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCCAGTAAGGAAAGCCTGAAC -3'
(R):5'- AGCCCACCAGGAGACTTTTC -3'

Sequencing Primer
(F):5'- TGGGACTCTTGAGATTGGAAAG -3'
(R):5'- AGCTGGGCAAGTACACCACG -3'
Posted On 2020-06-30