Incidental Mutation 'R5131:Rap1b'
ID 395012
Institutional Source Beutler Lab
Gene Symbol Rap1b
Ensembl Gene ENSMUSG00000052681
Gene Name RAS related protein 1b
Synonyms 2810443E11Rik
MMRRC Submission 042719-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.713) question?
Stock # R5131 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 117650502-117681879 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 117660516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 14 (V14I)
Ref Sequence ENSEMBL: ENSMUSP00000066238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064667]
AlphaFold Q99JI6
Predicted Effect probably damaging
Transcript: ENSMUST00000064667
AA Change: V14I

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000066238
Gene: ENSMUSG00000052681
AA Change: V14I

DomainStartEndE-ValueType
RAS 1 168 2.4e-122 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice display partial embryonic and perinatal lethality, abdominal, cranial, and hepatic bleeding in mice that die in utero, reduced platelet aggregation, and decreased thrombus formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 C T 4: 40,163,797 (GRCm39) P17S probably benign Het
Arhgap35 A G 7: 16,245,112 (GRCm39) probably null Het
Brd3 A T 2: 27,343,427 (GRCm39) N480K probably benign Het
Ccnk T C 12: 108,168,890 (GRCm39) probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh1 T C 8: 107,390,430 (GRCm39) V590A possibly damaging Het
Cert1 A G 13: 96,751,343 (GRCm39) D331G probably damaging Het
Cic TCCCCC TCCCCCCCC 7: 24,991,095 (GRCm39) probably benign Het
Cmklr2 T A 1: 63,222,840 (GRCm39) S132C probably damaging Het
Cyp4a12a T A 4: 115,185,017 (GRCm39) D399E possibly damaging Het
Dnah11 A C 12: 117,918,486 (GRCm39) Y3482D probably damaging Het
Gtf3c3 A T 1: 54,458,657 (GRCm39) probably null Het
Gzmk G T 13: 113,310,482 (GRCm39) A73E probably benign Het
Hnrnpul1 A G 7: 25,426,219 (GRCm39) V444A probably benign Het
Lgr4 T C 2: 109,842,678 (GRCm39) S864P probably benign Het
Lrp2 A T 2: 69,260,686 (GRCm39) V4515E possibly damaging Het
Map3k19 A T 1: 127,751,427 (GRCm39) N641K possibly damaging Het
Mesp2 A G 7: 79,461,475 (GRCm39) T267A possibly damaging Het
Mipep T C 14: 61,140,823 (GRCm39) L682P probably damaging Het
Nalcn G T 14: 123,753,182 (GRCm39) T268K probably damaging Het
Ncam2 T C 16: 81,234,550 (GRCm39) V135A probably benign Het
Ndufaf6 G T 4: 11,060,931 (GRCm39) T215K probably damaging Het
Nr1h4 T C 10: 89,319,317 (GRCm39) D183G probably damaging Het
Pate9 C T 9: 36,446,242 (GRCm39) A57T possibly damaging Het
Pax2 G T 19: 44,749,394 (GRCm39) V41L probably damaging Het
Pde4dip T A 3: 97,616,830 (GRCm39) N1804I probably damaging Het
Phtf2 A T 5: 20,979,050 (GRCm39) V526E probably damaging Het
Ppp1ca G A 19: 4,244,895 (GRCm39) C291Y probably damaging Het
Prag1 G T 8: 36,607,123 (GRCm39) G955C probably damaging Het
Psap T A 10: 60,135,736 (GRCm39) V394E possibly damaging Het
Rnf181 G A 6: 72,337,811 (GRCm39) probably null Het
Rsbn1l G A 5: 21,101,243 (GRCm39) R766C possibly damaging Het
Rusc2 C T 4: 43,414,948 (GRCm39) P85S probably benign Het
Rxfp1 T C 3: 79,559,471 (GRCm39) probably null Het
Serpinb6a T A 13: 34,102,855 (GRCm39) M202L probably benign Het
Snd1 T C 6: 28,885,049 (GRCm39) F800S probably damaging Het
Tbc1d2b G A 9: 90,091,812 (GRCm39) T830I probably damaging Het
Tmem209 A T 6: 30,497,166 (GRCm39) N183K probably benign Het
Tmtc3 T C 10: 100,284,841 (GRCm39) D598G probably damaging Het
Ube3b A G 5: 114,545,607 (GRCm39) D622G probably damaging Het
Zbtb43 A T 2: 33,344,778 (GRCm39) M112K probably damaging Het
Other mutations in Rap1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01932:Rap1b APN 10 117,658,765 (GRCm39) missense probably damaging 1.00
IGL02539:Rap1b APN 10 117,658,709 (GRCm39) missense possibly damaging 0.82
IGL03286:Rap1b APN 10 117,654,480 (GRCm39) nonsense probably null
R0591:Rap1b UTSW 10 117,654,522 (GRCm39) unclassified probably benign
R1939:Rap1b UTSW 10 117,654,491 (GRCm39) missense probably damaging 1.00
R2509:Rap1b UTSW 10 117,654,444 (GRCm39) missense probably damaging 0.98
R2902:Rap1b UTSW 10 117,660,507 (GRCm39) missense probably damaging 1.00
R4825:Rap1b UTSW 10 117,654,487 (GRCm39) missense probably benign 0.04
R6084:Rap1b UTSW 10 117,660,516 (GRCm39) missense probably damaging 0.96
R6186:Rap1b UTSW 10 117,656,457 (GRCm39) missense probably damaging 1.00
R6737:Rap1b UTSW 10 117,658,713 (GRCm39) missense probably damaging 0.97
R7026:Rap1b UTSW 10 117,654,384 (GRCm39) missense probably benign 0.01
R7530:Rap1b UTSW 10 117,653,357 (GRCm39) nonsense probably null
R8069:Rap1b UTSW 10 117,657,514 (GRCm39) missense probably damaging 1.00
R8686:Rap1b UTSW 10 117,658,746 (GRCm39) missense probably damaging 1.00
R9163:Rap1b UTSW 10 117,654,391 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- GGATCTTACCTTAATCAGACCAAGAC -3'
(R):5'- GCTCCCATGGGAATCTAGTCTAG -3'

Sequencing Primer
(F):5'- GTGGCCTTTAAAGCTGCAAC -3'
(R):5'- CCCATGGGAATCTAGTCTAGTAATC -3'
Posted On 2016-06-21