Incidental Mutation 'IGL02167:Rab2b'
ID282740
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab2b
Ensembl Gene ENSMUSG00000022159
Gene NameRAB2B, member RAS oncogene family
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.218) question?
Stock #IGL02167
Quality Score
Status
Chromosome14
Chromosomal Location52261759-52279545 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 52268696 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 103 (D103G)
Ref Sequence ENSEMBL: ENSMUSP00000098197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022765] [ENSMUST00000100631] [ENSMUST00000167116] [ENSMUST00000172488] [ENSMUST00000174020]
Predicted Effect probably damaging
Transcript: ENSMUST00000022765
AA Change: D103G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022765
Gene: ENSMUSG00000022159
AA Change: D103G

DomainStartEndE-ValueType
RAB 7 170 7.66e-107 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100631
AA Change: D103G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098197
Gene: ENSMUSG00000022159
AA Change: D103G

DomainStartEndE-ValueType
RAB 7 168 6.88e-100 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167116
AA Change: D103G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131145
Gene: ENSMUSG00000022159
AA Change: D103G

DomainStartEndE-ValueType
RAB 7 170 7.66e-107 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172488
SMART Domains Protein: ENSMUSP00000133787
Gene: ENSMUSG00000022159

DomainStartEndE-ValueType
Pfam:Miro 8 62 3.5e-7 PFAM
Pfam:Ras 8 62 3.7e-20 PFAM
Predicted Effect silent
Transcript: ENSMUST00000172634
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173046
Predicted Effect probably benign
Transcript: ENSMUST00000174020
SMART Domains Protein: ENSMUSP00000134726
Gene: ENSMUSG00000022159

DomainStartEndE-ValueType
small_GTPase 7 70 5.2e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200590
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the Rab protein family are nontransforming monomeric GTP-binding proteins of the Ras superfamily that contain 4 highly conserved regions involved in GTP binding and hydrolysis. Rab proteins are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking; see MIM 179508.[supplied by OMIM, Apr 2006]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,122,722 probably benign Het
Cacna1f T C X: 7,616,019 Y581H probably damaging Het
Camsap1 C T 2: 25,934,300 R1416H probably damaging Het
Ccdc117 T C 11: 5,531,333 E266G possibly damaging Het
Ccdc9 A T 7: 16,284,359 L8* probably null Het
Cited2 T C 10: 17,724,270 S109P probably benign Het
Cnot4 T C 6: 35,056,224 D286G possibly damaging Het
Col5a1 T C 2: 28,018,556 I52T probably benign Het
Cry2 T C 2: 92,433,821 N68S possibly damaging Het
Cul4a T C 8: 13,122,826 F153S probably damaging Het
Ddr1 T C 17: 35,690,071 S261G possibly damaging Het
Depdc5 G A 5: 32,903,801 R324Q probably damaging Het
Dmgdh A G 13: 93,720,627 probably benign Het
Epha8 A T 4: 136,931,094 M990K probably damaging Het
Gpr137c G T 14: 45,279,955 G383C probably damaging Het
Hydin T A 8: 110,418,423 I802N possibly damaging Het
Ifne A G 4: 88,879,828 Y118H possibly damaging Het
Kansl2 T C 15: 98,533,515 probably benign Het
Lig4 T A 8: 9,971,821 N653I probably benign Het
Nagk A G 6: 83,801,106 D246G probably damaging Het
Nav1 A G 1: 135,470,961 S628P probably damaging Het
Ncoa3 A G 2: 166,070,136 Y1401C probably damaging Het
Ndufa9 A G 6: 126,844,785 probably benign Het
Nynrin G T 14: 55,863,335 R194L probably damaging Het
Olfr1115 G A 2: 87,252,198 C87Y probably benign Het
Olfr17 A T 7: 107,097,661 R65S probably benign Het
Olfr45 T A 7: 140,691,751 V282D probably damaging Het
Orc2 A T 1: 58,483,639 probably benign Het
Oxgr1 T A 14: 120,021,930 R288S probably damaging Het
Prkcg T C 7: 3,322,581 probably null Het
Prox1 T C 1: 190,161,280 N323D probably benign Het
Prrt1 A C 17: 34,631,855 E215A possibly damaging Het
Sardh G T 2: 27,191,975 N846K probably damaging Het
Slc38a8 T A 8: 119,487,360 T248S probably benign Het
Slc6a18 T C 13: 73,666,472 probably null Het
Smcp T C 3: 92,584,199 T114A unknown Het
Tmem8 T C 17: 26,119,071 S450P probably damaging Het
Trpv1 A G 11: 73,254,797 N754D probably damaging Het
Txnrd1 A T 10: 82,881,911 H243L probably benign Het
Wdfy3 T C 5: 101,961,157 M125V probably damaging Het
Wnk2 T C 13: 49,071,125 probably null Het
Wrn T C 8: 33,317,555 M292V probably damaging Het
Zbtb17 T C 4: 141,461,829 L20P possibly damaging Het
Zfp608 T C 18: 54,988,224 H97R probably damaging Het
Zfp68 T A 5: 138,606,367 M565L probably benign Het
Zfp687 T C 3: 95,010,530 T644A probably benign Het
Zfp777 C T 6: 48,044,526 G54D probably damaging Het
Other mutations in Rab2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4631:Rab2b UTSW 14 52266242 missense possibly damaging 0.86
R6418:Rab2b UTSW 14 52268707 utr 3 prime probably benign
R7006:Rab2b UTSW 14 52266233 missense probably benign 0.10
R7166:Rab2b UTSW 14 52279345 unclassified probably benign
Posted On2015-04-16