Incidental Mutation 'R2187:Rhoa'
ID 237880
Institutional Source Beutler Lab
Gene Symbol Rhoa
Ensembl Gene ENSMUSG00000007815
Gene Name ras homolog family member A
Synonyms Arha1, Arha, RhoA, Arha2
MMRRC Submission 040189-MU
Accession Numbers
Essential gene? Not available question?
Stock # R2187 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 108183359-108215142 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108212352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 127 (T127M)
Ref Sequence ENSEMBL: ENSMUSP00000141967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007959] [ENSMUST00000082429] [ENSMUST00000191997] [ENSMUST00000194701] [ENSMUST00000193490] [ENSMUST00000193987]
AlphaFold Q9QUI0
Predicted Effect probably benign
Transcript: ENSMUST00000007959
AA Change: T127M

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000007959
Gene: ENSMUSG00000007815
AA Change: T127M

DomainStartEndE-ValueType
RHO 8 181 1.09e-134 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000082429
SMART Domains Protein: ENSMUSP00000081010
Gene: ENSMUSG00000063856

DomainStartEndE-ValueType
Pfam:GSHPx 14 128 5.6e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191755
Predicted Effect probably benign
Transcript: ENSMUST00000191997
SMART Domains Protein: ENSMUSP00000142257
Gene: ENSMUSG00000063856

DomainStartEndE-ValueType
Pfam:GSHPx 1 71 3.2e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192053
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192401
Predicted Effect probably benign
Transcript: ENSMUST00000194701
AA Change: T127M

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000141967
Gene: ENSMUSG00000007815
AA Change: T127M

DomainStartEndE-ValueType
RHO 8 165 8.9e-117 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193424
Predicted Effect probably benign
Transcript: ENSMUST00000193490
SMART Domains Protein: ENSMUSP00000141572
Gene: ENSMUSG00000007815

DomainStartEndE-ValueType
small_GTPase 8 67 1.5e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193987
SMART Domains Protein: ENSMUSP00000141279
Gene: ENSMUSG00000063856

DomainStartEndE-ValueType
Pfam:GSHPx 1 72 6.1e-26 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. Overexpression of this gene is associated with tumor cell proliferation and metastasis. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a conditional allele activated in neuroepithelial cells exhibit lethality during late embryonic stages associated with early cell cycle exit, premature neuronal precursor differentiation, increased apoptosis in the neural tube. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T A 17: 31,324,491 (GRCm39) S245R probably damaging Het
AI597479 T A 1: 43,139,983 (GRCm39) W70R probably damaging Het
Ankrd55 A G 13: 112,520,039 (GRCm39) S575G probably benign Het
Bfsp2 T A 9: 103,303,976 (GRCm39) K343* probably null Het
Cant1 A T 11: 118,299,667 (GRCm39) Y227* probably null Het
Cd2bp2 T C 7: 126,793,963 (GRCm39) N109D probably benign Het
Chmp6 A G 11: 119,807,562 (GRCm39) E135G possibly damaging Het
Dsp T G 13: 38,360,383 (GRCm39) S329R probably damaging Het
Epha5 A T 5: 84,234,223 (GRCm39) F767L probably damaging Het
Epha7 A T 4: 28,942,648 (GRCm39) T566S possibly damaging Het
Erap1 A T 13: 74,810,524 (GRCm39) I288F probably damaging Het
Erich6 A G 3: 58,537,266 (GRCm39) probably null Het
Fbxo10 A G 4: 45,058,531 (GRCm39) V402A probably benign Het
Fndc1 T A 17: 7,960,604 (GRCm39) I1604F probably damaging Het
Foxd4 T G 19: 24,877,219 (GRCm39) Q327P probably damaging Het
Fxn T A 19: 24,257,853 (GRCm39) N26I probably benign Het
Hsf5 G T 11: 87,529,010 (GRCm39) G582C possibly damaging Het
Itga8 A G 2: 12,199,231 (GRCm39) V522A possibly damaging Het
Kplce A G 3: 92,775,922 (GRCm39) S254P probably damaging Het
Lyst C T 13: 13,883,926 (GRCm39) T2938I possibly damaging Het
Mib2 T C 4: 155,739,390 (GRCm39) E863G possibly damaging Het
Mrgpra9 A G 7: 46,884,797 (GRCm39) F290S probably damaging Het
Mst1 T C 9: 107,961,539 (GRCm39) Y599H possibly damaging Het
Mylk4 T C 13: 32,905,996 (GRCm39) I165V probably damaging Het
Nipsnap2 T C 5: 129,823,537 (GRCm39) probably null Het
Nol8 T C 13: 49,815,475 (GRCm39) Y528H probably benign Het
Nup93 T A 8: 95,027,478 (GRCm39) S295R probably damaging Het
Nutm2 A T 13: 50,621,453 (GRCm39) Q6L probably benign Het
Or2b6 A T 13: 21,823,555 (GRCm39) I46N probably damaging Het
Or5ak20 T G 2: 85,184,259 (GRCm39) S4R probably benign Het
Or5b12b T A 19: 12,861,619 (GRCm39) C125S probably damaging Het
Or6c33 A G 10: 129,853,557 (GRCm39) E109G probably damaging Het
Pip5k1a A T 3: 94,979,229 (GRCm39) L189Q probably damaging Het
Plekha4 C T 7: 45,198,698 (GRCm39) R574C probably damaging Het
Ppp2cb A G 8: 34,100,705 (GRCm39) E42G possibly damaging Het
Prkd3 T A 17: 79,282,983 (GRCm39) Q244L probably benign Het
Ptpn14 C T 1: 189,595,425 (GRCm39) R1023* probably null Het
Ptpra A G 2: 130,346,219 (GRCm39) T127A probably benign Het
Rad54l2 ACCTCCTCCTCCTCCTCCTCCTCCTC ACCTCCTCCTCCTCCTCCTCCTC 9: 106,631,191 (GRCm39) probably benign Het
Rasgrf1 T C 9: 89,876,888 (GRCm39) I751T possibly damaging Het
Rbm27 A G 18: 42,459,022 (GRCm39) K697R probably damaging Het
Rnpepl1 A G 1: 92,844,617 (GRCm39) S370G probably null Het
Sdk1 C T 5: 142,100,329 (GRCm39) T1453I probably damaging Het
Sel1l2 A G 2: 140,072,793 (GRCm39) L614S probably damaging Het
Slc6a20b T A 9: 123,427,653 (GRCm39) I419F probably damaging Het
Slc8a1 C T 17: 81,955,982 (GRCm39) S352N possibly damaging Het
Spta1 A G 1: 174,020,532 (GRCm39) D547G probably damaging Het
Tc2n G A 12: 101,672,803 (GRCm39) T46I probably damaging Het
Terb1 T A 8: 105,199,516 (GRCm39) Y476F probably benign Het
Trim12a T A 7: 103,953,399 (GRCm39) E237D probably damaging Het
Usp47 T C 7: 111,666,398 (GRCm39) L309P probably damaging Het
Other mutations in Rhoa
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4403:Rhoa UTSW 9 108,214,013 (GRCm39) missense probably benign 0.09
R7749:Rhoa UTSW 9 108,213,914 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGCCCCAAATGTTTCTTTG -3'
(R):5'- TGTCCTGGACACTGAGTACG -3'

Sequencing Primer
(F):5'- GTCCTCAGGCTCAGATTCAAG -3'
(R):5'- CTGGACACTGAGTACGGGAAAC -3'
Posted On 2014-10-02