Incidental Mutation 'IGL02544:Rap2b'
ID 297728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rap2b
Ensembl Gene ENSMUSG00000036894
Gene Name RAP2B, member of RAS oncogene family
Synonyms 4021402C18Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL02544
Quality Score
Status
Chromosome 3
Chromosomal Location 61271928-61276124 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61272560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 28 (F28S)
Ref Sequence ENSEMBL: ENSMUSP00000038841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049064] [ENSMUST00000066298]
AlphaFold P61226
Predicted Effect probably damaging
Transcript: ENSMUST00000049064
AA Change: F28S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038841
Gene: ENSMUSG00000036894
AA Change: F28S

DomainStartEndE-ValueType
RAS 1 167 3.08e-111 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000066298
SMART Domains Protein: ENSMUSP00000070175
Gene: ENSMUSG00000053706

DomainStartEndE-ValueType
low complexity region 95 103 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194223
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene belongs to a family of RAS-related genes. The proteins encoded by these genes share approximately 50% amino acid identity with the classical RAS proteins and have numerous structural features in common. The most striking difference between the RAP and RAS proteins resides in their 61st amino acid: glutamine in RAS is replaced by threonine in RAP proteins. Evidence suggests that this protein may be polyisoprenylated and palmitoylated. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A C 5: 77,049,961 (GRCm39) S12A probably benign Het
Abcb5 A T 12: 118,870,003 (GRCm39) probably benign Het
Acap3 G A 4: 155,976,867 (GRCm39) E6K possibly damaging Het
Ano3 A T 2: 110,488,594 (GRCm39) I946K possibly damaging Het
Arid1a A G 4: 133,409,059 (GRCm39) V1816A unknown Het
Cacna1c C T 6: 118,728,440 (GRCm39) G335R probably damaging Het
Ccnh C A 13: 85,350,460 (GRCm39) Y118* probably null Het
Cep76 C T 18: 67,768,020 (GRCm39) probably benign Het
Cyp2c65 T C 19: 39,079,082 (GRCm39) V387A probably damaging Het
Dapk1 T G 13: 60,899,031 (GRCm39) S834A probably benign Het
Ddx39a T C 8: 84,449,402 (GRCm39) S367P probably benign Het
Dicer1 A G 12: 104,681,091 (GRCm39) I474T probably damaging Het
Dnah10 G A 5: 124,876,069 (GRCm39) R2579H probably benign Het
Dnajc16 T C 4: 141,491,958 (GRCm39) N622D probably damaging Het
Eif3c G T 7: 126,146,784 (GRCm39) S799* probably null Het
Fbxo9 A G 9: 77,994,541 (GRCm39) Y259H probably damaging Het
Fpr-rs4 A T 17: 18,242,473 (GRCm39) H160L probably benign Het
Galc A T 12: 98,197,701 (GRCm39) V336D probably benign Het
Matcap1 C T 8: 106,010,092 (GRCm39) V286M probably benign Het
Mfrp T C 9: 44,014,091 (GRCm39) L153P probably damaging Het
Mtx1 C A 3: 89,117,703 (GRCm39) W30L probably damaging Het
Mysm1 A T 4: 94,840,543 (GRCm39) D624E probably damaging Het
Naa16 A G 14: 79,573,260 (GRCm39) F837L probably damaging Het
Or10ag56 C T 2: 87,139,471 (GRCm39) R113C possibly damaging Het
Or1j17 A G 2: 36,578,848 (GRCm39) Y278C probably damaging Het
Or2ag1 T C 7: 106,313,742 (GRCm39) I49V probably benign Het
Or5h25 A T 16: 58,930,507 (GRCm39) H155Q probably damaging Het
Pde4d G T 13: 109,877,057 (GRCm39) D137Y probably damaging Het
Pik3r1 G T 13: 101,823,784 (GRCm39) R534S probably damaging Het
Pira12 T A 7: 3,900,185 (GRCm39) Y139F probably damaging Het
Plekha5 A C 6: 140,535,454 (GRCm39) E239A possibly damaging Het
Psap G T 10: 60,136,405 (GRCm39) probably benign Het
Rfc5 A T 5: 117,524,931 (GRCm39) probably benign Het
Ryr1 C T 7: 28,815,024 (GRCm39) D175N probably benign Het
Sbno1 T G 5: 124,542,046 (GRCm39) I370L probably damaging Het
Slc17a6 T A 7: 51,315,903 (GRCm39) C390* probably null Het
Srsf7 A T 17: 80,511,620 (GRCm39) probably benign Het
Tbc1d10c C T 19: 4,237,959 (GRCm39) D272N probably benign Het
Tll2 A G 19: 41,124,404 (GRCm39) F204L probably damaging Het
Tmc1 T A 19: 20,884,327 (GRCm39) T38S probably benign Het
Tmem184b A T 15: 79,250,007 (GRCm39) I256K probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Trip11 G A 12: 101,859,780 (GRCm39) R365W probably damaging Het
Ubr4 C T 4: 139,142,429 (GRCm39) P1339S probably damaging Het
Vmn2r83 T A 10: 79,317,293 (GRCm39) probably benign Het
Other mutations in Rap2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1715:Rap2b UTSW 3 61,272,611 (GRCm39) missense probably damaging 0.98
R2117:Rap2b UTSW 3 61,272,512 (GRCm39) missense probably damaging 1.00
R8217:Rap2b UTSW 3 61,272,551 (GRCm39) missense possibly damaging 0.87
R8420:Rap2b UTSW 3 61,271,805 (GRCm39) utr 5 prime probably benign
Posted On 2015-04-16