Incidental Mutation 'IGL01932:Rap1b'
ID180454
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rap1b
Ensembl Gene ENSMUSG00000052681
Gene NameRAS related protein 1b
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.472) question?
Stock #IGL01932
Quality Score
Status
Chromosome10
Chromosomal Location117813871-117846035 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 117822860 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 23 (F23I)
Ref Sequence ENSEMBL: ENSMUSP00000066238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064667] [ENSMUST00000220214]
Predicted Effect probably damaging
Transcript: ENSMUST00000064667
AA Change: F23I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066238
Gene: ENSMUSG00000052681
AA Change: F23I

DomainStartEndE-ValueType
RAS 1 168 2.4e-122 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220214
Coding Region Coverage
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik A G 12: 55,304,125 N73S probably benign Het
Adcy1 T A 11: 7,100,565 probably benign Het
Adipor2 G A 6: 119,361,864 H143Y probably damaging Het
Ankar A G 1: 72,698,987 I12T probably benign Het
Ankdd1a C T 9: 65,507,611 probably benign Het
Cadps A G 14: 12,373,609 probably benign Het
Cdh22 G A 2: 165,170,808 T119M probably benign Het
Col6a6 T A 9: 105,689,626 K2223N probably benign Het
Dnah11 G A 12: 118,192,270 probably benign Het
Ezh2 T C 6: 47,532,048 T674A probably damaging Het
Ffar4 A G 19: 38,097,530 E135G probably damaging Het
Fsip2 G A 2: 82,994,005 R6694Q possibly damaging Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm4222 A G 2: 90,148,457 probably benign Het
Hipk3 T A 2: 104,470,981 N289Y probably damaging Het
Kndc1 T C 7: 139,923,790 L1003P probably damaging Het
Mdk T C 2: 91,931,116 N72S probably damaging Het
Olfr520 T A 7: 99,735,500 I119N probably damaging Het
Olfr666 T A 7: 104,893,218 I137F probably damaging Het
Pafah1b3 A T 7: 25,297,091 C56S probably benign Het
Pdzrn4 A G 15: 92,746,278 I189V probably damaging Het
Plekhh2 A G 17: 84,577,261 N801S probably benign Het
Pramel7 A T 2: 87,491,113 S193T possibly damaging Het
Prkag1 A G 15: 98,814,531 I171T probably damaging Het
Scamp2 A G 9: 57,561,116 probably benign Het
Ttn A T 2: 76,884,474 probably benign Het
Vmn2r17 A T 5: 109,427,050 R74S probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wif1 G T 10: 121,096,035 C288F probably damaging Het
Other mutations in Rap1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02539:Rap1b APN 10 117822804 missense possibly damaging 0.82
IGL03286:Rap1b APN 10 117818575 nonsense probably null
R0591:Rap1b UTSW 10 117818617 unclassified probably benign
R1939:Rap1b UTSW 10 117818586 missense probably damaging 1.00
R2509:Rap1b UTSW 10 117818539 missense probably damaging 0.98
R2902:Rap1b UTSW 10 117824602 missense probably damaging 1.00
R4825:Rap1b UTSW 10 117818582 missense probably benign 0.04
R5131:Rap1b UTSW 10 117824611 missense probably damaging 0.96
R6084:Rap1b UTSW 10 117824611 missense probably damaging 0.96
R6186:Rap1b UTSW 10 117820552 missense probably damaging 1.00
R6737:Rap1b UTSW 10 117822808 missense probably damaging 0.97
R7026:Rap1b UTSW 10 117818479 missense probably benign 0.01
R7530:Rap1b UTSW 10 117817452 nonsense probably null
R8069:Rap1b UTSW 10 117821609 missense not run
Posted On2014-05-07