Incidental Mutation 'R8217:Rap2b'
ID 636404
Institutional Source Beutler Lab
Gene Symbol Rap2b
Ensembl Gene ENSMUSG00000036894
Gene Name RAP2B, member of RAS oncogene family
Synonyms 4021402C18Rik
MMRRC Submission 067658-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8217 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 61271928-61276124 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 61272551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 25 (T25K)
Ref Sequence ENSEMBL: ENSMUSP00000038841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049064] [ENSMUST00000066298]
AlphaFold P61226
Predicted Effect possibly damaging
Transcript: ENSMUST00000049064
AA Change: T25K

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038841
Gene: ENSMUSG00000036894
AA Change: T25K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 98% (48/49)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp T C 6: 125,037,921 (GRCm39) L406P probably damaging Het
Aph1b T C 9: 66,686,554 (GRCm39) K239E possibly damaging Het
Atp13a4 C A 16: 29,222,619 (GRCm39) V1102F Het
B3gat1 G A 9: 26,668,165 (GRCm39) A265T probably damaging Het
Bod1l T C 5: 41,988,850 (GRCm39) E419G probably damaging Het
Ccdc142 T C 6: 83,080,197 (GRCm39) L380P probably damaging Het
Cd55b CTTTT CTTTTT 1: 130,347,337 (GRCm39) probably null Het
Cfi A C 3: 129,648,650 (GRCm39) N178T possibly damaging Het
Col5a1 T A 2: 27,812,135 (GRCm39) D72E unknown Het
Cspg4 T A 9: 56,797,637 (GRCm39) V1367D possibly damaging Het
D5Ertd579e A C 5: 36,771,402 (GRCm39) S998A probably benign Het
Ehf T C 2: 103,109,976 (GRCm39) E77G possibly damaging Het
Erap1 T C 13: 74,820,937 (GRCm39) I662T probably benign Het
F11r GGTGTG GGTGTGTG 1: 171,290,656 (GRCm39) probably null Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Klhl8 A G 5: 104,015,466 (GRCm39) V486A possibly damaging Het
Lrrc72 A T 12: 36,258,676 (GRCm39) D60E probably damaging Het
Marchf5 C T 19: 37,185,210 (GRCm39) probably benign Het
Mtmr12 T C 15: 12,259,726 (GRCm39) I365T possibly damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nod2 A C 8: 89,390,785 (GRCm39) D364A probably benign Het
Numa1 T A 7: 101,641,876 (GRCm39) M108K possibly damaging Het
Nutm2 G T 13: 50,623,759 (GRCm39) R152L probably benign Het
Or14c43 A G 7: 86,115,390 (GRCm39) Y257C probably damaging Het
Or2t46 A T 11: 58,471,792 (GRCm39) M41L probably benign Het
Or8k17 C T 2: 86,066,862 (GRCm39) V106M probably benign Het
Pak1ip1 T A 13: 41,166,126 (GRCm39) S350R probably benign Het
Pcdha3 T C 18: 37,079,974 (GRCm39) F239L probably damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pkm C T 9: 59,586,092 (GRCm39) T524I possibly damaging Het
Plekhg2 T A 7: 28,067,717 (GRCm39) Q245L probably null Het
Pola2 T A 19: 6,013,855 (GRCm39) K26N possibly damaging Het
Prune2 G T 19: 17,097,480 (GRCm39) A995S probably benign Het
Scrib A G 15: 75,939,004 (GRCm39) S165P probably damaging Het
Sdk1 A T 5: 142,197,713 (GRCm39) H2122L possibly damaging Het
Sec24b A T 3: 129,834,599 (GRCm39) F200I possibly damaging Het
Sh3rf1 T C 8: 61,782,964 (GRCm39) V226A possibly damaging Het
Sik1 T A 17: 32,070,286 (GRCm39) H141L probably damaging Het
Slc9a5 A T 8: 106,089,956 (GRCm39) E638V probably damaging Het
Slco1a5 A G 6: 142,221,202 (GRCm39) C15R probably benign Het
Slit1 C T 19: 41,612,959 (GRCm39) D854N possibly damaging Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tec A T 5: 72,921,602 (GRCm39) M372K probably benign Het
Tlr2 A G 3: 83,745,373 (GRCm39) F237L probably benign Het
Trio A T 15: 27,819,055 (GRCm39) L1597Q probably damaging Het
Trpa1 A T 1: 14,957,247 (GRCm39) M723K probably damaging Het
Ttc21a T C 9: 119,783,694 (GRCm39) I592T probably benign Het
Vmn2r94 T C 17: 18,463,986 (GRCm39) E768G probably damaging Het
Zfhx3 A G 8: 109,677,349 (GRCm39) T2800A probably benign Het
Zpld1 A G 16: 55,047,295 (GRCm39) probably null Het
Other mutations in Rap2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02544:Rap2b APN 3 61,272,560 (GRCm39) missense probably damaging 1.00
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
R8420:Rap2b UTSW 3 61,271,805 (GRCm39) utr 5 prime probably benign
Predicted Primers PCR Primer
(F):5'- TTTTCCTGCGAAGTTGAGGAAG -3'
(R):5'- TACCAGGATCATGGGTACGC -3'

Sequencing Primer
(F):5'- GGGGAGAAGTCCACCCGTC -3'
(R):5'- AAGCTCTGCTGGTTGACC -3'
Posted On 2020-07-13