Incidental Mutation 'R6964:Rhoj'
ID 541902
Institutional Source Beutler Lab
Gene Symbol Rhoj
Ensembl Gene ENSMUSG00000046768
Gene Name ras homolog family member J
Synonyms 1110005O19Rik, TCL, Arhj, TC10L
MMRRC Submission 045074-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6964 (G1)
Quality Score 220.009
Status Not validated
Chromosome 12
Chromosomal Location 75355096-75448230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75422163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 74 (Y74N)
Ref Sequence ENSEMBL: ENSMUSP00000113165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055390] [ENSMUST00000118602] [ENSMUST00000118966] [ENSMUST00000172981]
AlphaFold Q9ER71
Predicted Effect probably damaging
Transcript: ENSMUST00000055390
AA Change: Y74N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059498
Gene: ENSMUSG00000046768
AA Change: Y74N

DomainStartEndE-ValueType
RHO 24 197 1.4e-109 SMART
low complexity region 198 211 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118602
AA Change: Y74N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112379
Gene: ENSMUSG00000046768
AA Change: Y74N

DomainStartEndE-ValueType
RHO 24 169 8.2e-75 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118966
AA Change: Y74N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113165
Gene: ENSMUSG00000046768
AA Change: Y74N

DomainStartEndE-ValueType
RHO 24 167 2.13e-73 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172981
SMART Domains Protein: ENSMUSP00000134552
Gene: ENSMUSG00000046768

DomainStartEndE-ValueType
Pfam:Ras 4 50 2.6e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the many small GTP-binding proteins in the Rho family shown to be associated with focal adhesions in endothelial cells (PMID: 21148427, 22103495). The encoded protein is activated by vascular endothelial growth factor and may regulate angiogenesis. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a slight delay in radial growth in the retina and empty basement membrane sleeves. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630089N07Rik A T 16: 97,866,959 (GRCm39) Y334* probably null Het
Abcc2 A C 19: 43,786,515 (GRCm39) I116L probably benign Het
Adamts17 T A 7: 66,559,148 (GRCm39) Y313N possibly damaging Het
Adamts17 A G 7: 66,654,101 (GRCm39) T444A probably benign Het
Adamtsl1 A G 4: 86,075,091 (GRCm39) I153V probably damaging Het
Ambra1 C T 2: 91,747,761 (GRCm39) Q1046* probably null Het
Ap1g2 A T 14: 55,336,722 (GRCm39) V750D possibly damaging Het
Bcl7a T C 5: 123,507,519 (GRCm39) probably null Het
C4bp A T 1: 130,585,009 (GRCm39) L9Q probably damaging Het
Cadps2 A C 6: 23,583,458 (GRCm39) V344G probably damaging Het
Car7 A G 8: 105,270,213 (GRCm39) D15G possibly damaging Het
Cep126 G C 9: 8,112,101 (GRCm39) H157Q probably null Het
Chst11 C T 10: 83,027,215 (GRCm39) T214I probably damaging Het
Cntrob G A 11: 69,200,317 (GRCm39) R526* probably null Het
Cul1 A G 6: 47,493,443 (GRCm39) T445A probably benign Het
Dclre1c T C 2: 3,454,206 (GRCm39) V363A possibly damaging Het
Dock10 T A 1: 80,481,365 (GRCm39) probably benign Het
Donson A G 16: 91,478,107 (GRCm39) Y465H probably benign Het
Eif3e G A 15: 43,135,685 (GRCm39) A118V probably benign Het
Fam47e A T 5: 92,713,911 (GRCm39) Q180L probably damaging Het
Fat1 T G 8: 45,496,982 (GRCm39) C4156G probably damaging Het
Fermt2 A T 14: 45,702,599 (GRCm39) I441K probably damaging Het
Frmd4b C T 6: 97,282,158 (GRCm39) R510Q probably damaging Het
Fscn1 C T 5: 142,946,415 (GRCm39) A71V probably damaging Het
Gfap G A 11: 102,787,783 (GRCm39) A54V possibly damaging Het
Gjc3 C T 5: 137,955,759 (GRCm39) M175I probably benign Het
Gm10645 C T 8: 83,892,581 (GRCm39) probably benign Het
Haus5 G A 7: 30,357,040 (GRCm39) P464S probably benign Het
Helz2 T A 2: 180,872,221 (GRCm39) I2584F probably damaging Het
Mak T A 13: 41,186,067 (GRCm39) I534L probably benign Het
Map3k9 T C 12: 81,819,777 (GRCm39) D159G probably benign Het
Mcat A G 15: 83,432,132 (GRCm39) probably benign Het
Meltf A G 16: 31,698,980 (GRCm39) D30G probably benign Het
Ntng2 T A 2: 29,087,041 (GRCm39) Y452F probably benign Het
Or10ag60 T C 2: 87,437,957 (GRCm39) L75P probably damaging Het
Or4a72 T A 2: 89,405,333 (GRCm39) I246F probably benign Het
Or5b118 T A 19: 13,448,725 (GRCm39) Y130* probably null Het
Or5p53 A T 7: 107,532,966 (GRCm39) I80L probably benign Het
Paip1 C T 13: 119,587,306 (GRCm39) T390I possibly damaging Het
Pianp T A 6: 124,976,353 (GRCm39) V54D possibly damaging Het
Ptprn T C 1: 75,237,293 (GRCm39) D103G possibly damaging Het
Rhcg A G 7: 79,250,279 (GRCm39) V268A probably benign Het
Rigi A G 4: 40,225,697 (GRCm39) S235P probably benign Het
Snx13 A C 12: 35,169,788 (GRCm39) T578P possibly damaging Het
Star T A 8: 26,301,851 (GRCm39) H227Q probably benign Het
Stau2 A C 1: 16,460,229 (GRCm39) M204R probably damaging Het
Steap4 A G 5: 8,025,568 (GRCm39) Y43C probably damaging Het
Syt8 A G 7: 141,993,158 (GRCm39) E21G probably benign Het
Tacr3 T C 3: 134,535,500 (GRCm39) V156A probably damaging Het
Tmem106b C T 6: 13,082,422 (GRCm39) T199M probably benign Het
Tmem131 T C 1: 36,835,373 (GRCm39) T1583A probably damaging Het
Tom1 G A 8: 75,778,593 (GRCm39) V87I probably null Het
Treml4 G T 17: 48,579,847 (GRCm39) probably null Het
Ttn T C 2: 76,544,457 (GRCm39) K32843R probably damaging Het
Wdr95 T G 5: 149,505,315 (GRCm39) C223W probably damaging Het
Wipi1 C T 11: 109,494,590 (GRCm39) R81Q probably benign Het
Zc3h7a G A 16: 10,967,088 (GRCm39) T568I probably benign Het
Zfp287 A T 11: 62,615,643 (GRCm39) I228N probably damaging Het
Zfp606 T A 7: 12,223,519 (GRCm39) V10E probably damaging Het
Other mutations in Rhoj
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Rhoj APN 12 75,355,680 (GRCm39) missense probably damaging 1.00
IGL02293:Rhoj APN 12 75,422,186 (GRCm39) intron probably benign
R0133:Rhoj UTSW 12 75,441,194 (GRCm39) critical splice acceptor site probably null
R4609:Rhoj UTSW 12 75,446,980 (GRCm39) nonsense probably null
R5560:Rhoj UTSW 12 75,438,486 (GRCm39) missense probably damaging 1.00
R5671:Rhoj UTSW 12 75,440,743 (GRCm39) missense probably damaging 1.00
R5763:Rhoj UTSW 12 75,438,606 (GRCm39) missense probably benign 0.00
R6828:Rhoj UTSW 12 75,355,653 (GRCm39) missense probably benign
R8546:Rhoj UTSW 12 75,422,124 (GRCm39) missense probably benign 0.05
R9038:Rhoj UTSW 12 75,355,700 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TGAAGGTGGCTCAGACCATC -3'
(R):5'- AAGAATGCACATTTGGGTGTC -3'

Sequencing Primer
(F):5'- TTGGAAACCGTGCTGTCAAC -3'
(R):5'- CATTTGGGTAGAAAAATCTATGGGCC -3'
Posted On 2018-11-28