Incidental Mutation 'R7006:Rab2b'
ID 544736
Institutional Source Beutler Lab
Gene Symbol Rab2b
Ensembl Gene ENSMUSG00000022159
Gene Name RAB2B, member RAS oncogene family
Synonyms 4930528G15Rik, 1500012D09Rik, D530043M21Rik
MMRRC Submission 045011-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R7006 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 52499216-52516852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52503690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 144 (I144K)
Ref Sequence ENSEMBL: ENSMUSP00000131145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022765] [ENSMUST00000100631] [ENSMUST00000167116] [ENSMUST00000172488] [ENSMUST00000174020]
AlphaFold P59279
Predicted Effect probably benign
Transcript: ENSMUST00000022765
AA Change: I144K

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000022765
Gene: ENSMUSG00000022159
AA Change: I144K

DomainStartEndE-ValueType
RAB 7 170 7.66e-107 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100631
AA Change: I144K

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000098197
Gene: ENSMUSG00000022159
AA Change: I144K

DomainStartEndE-ValueType
RAB 7 168 6.88e-100 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167116
AA Change: I144K

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000131145
Gene: ENSMUSG00000022159
AA Change: I144K

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 probably benign
Transcript: ENSMUST00000172634
Predicted Effect probably benign
Transcript: ENSMUST00000174020
SMART Domains Protein: ENSMUSP00000134726
Gene: ENSMUSG00000022159

DomainStartEndE-ValueType
small_GTPase 7 70 5.2e-8 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A G 4: 144,447,853 (GRCm39) V41A probably benign Het
Adcy2 G A 13: 69,036,139 (GRCm39) T174M probably damaging Het
Ankfy1 T A 11: 72,631,290 (GRCm39) I412N probably benign Het
AW146154 T C 7: 41,130,648 (GRCm39) E156G possibly damaging Het
B4galnt1 T C 10: 127,005,700 (GRCm39) L267P probably benign Het
Bod1l T C 5: 41,989,895 (GRCm39) E276G probably damaging Het
Ccdc187 T C 2: 26,171,102 (GRCm39) T459A probably benign Het
Ccdc196 T A 12: 78,255,702 (GRCm39) *177R probably null Het
Cep72 G A 13: 74,198,427 (GRCm39) Q311* probably null Het
Cir1 T C 2: 73,140,834 (GRCm39) Q45R probably damaging Het
Ciz1 T C 2: 32,261,127 (GRCm39) probably null Het
Crtap G T 9: 114,215,391 (GRCm39) A166E probably damaging Het
Dipk1a A G 5: 108,058,027 (GRCm39) V132A probably benign Het
Dmp1 A G 5: 104,360,188 (GRCm39) D288G probably benign Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Fmnl2 C A 2: 52,998,266 (GRCm39) Q544K probably benign Het
Gpsm1 T C 2: 26,212,572 (GRCm39) L72P probably damaging Het
Gys1 G A 7: 45,089,437 (GRCm39) A199T probably damaging Het
Kcnq3 A C 15: 65,892,165 (GRCm39) Y403* probably null Het
Kcp A C 6: 29,499,169 (GRCm39) Y298D probably damaging Het
Kif5c T C 2: 49,625,526 (GRCm39) S599P probably damaging Het
Krt20 A T 11: 99,328,587 (GRCm39) Y113N probably benign Het
Mcm8 T G 2: 132,665,181 (GRCm39) V191G probably damaging Het
Msr1 T A 8: 40,042,423 (GRCm39) D384V probably damaging Het
Mtpap A C 18: 4,380,873 (GRCm39) S184R possibly damaging Het
Npc1l1 G A 11: 6,167,731 (GRCm39) T1020M probably benign Het
Nphp4 A G 4: 152,573,259 (GRCm39) T66A probably benign Het
Or1o3 T A 17: 37,573,625 (GRCm39) *310L probably null Het
Or4f14 C A 2: 111,742,601 (GRCm39) V225L probably benign Het
Or8h10 G A 2: 86,808,303 (GRCm39) T279I probably damaging Het
Or8k18 T A 2: 86,085,572 (GRCm39) Q155L probably benign Het
Phf11d G T 14: 59,590,823 (GRCm39) T178K probably benign Het
Ppm1d A G 11: 85,227,977 (GRCm39) K298E possibly damaging Het
Stoml1 A G 9: 58,167,523 (GRCm39) D5G probably damaging Het
Styxl2 T C 1: 165,926,663 (GRCm39) N983S probably benign Het
Tanc1 T C 2: 59,626,188 (GRCm39) V515A probably damaging Het
Tas1r3 A G 4: 155,947,361 (GRCm39) V108A possibly damaging Het
Tifab T C 13: 56,324,059 (GRCm39) Y128C probably benign Het
Tmc6 G T 11: 117,665,083 (GRCm39) R397S probably damaging Het
Tnpo3 C T 6: 29,589,162 (GRCm39) A63T probably damaging Het
Trgc4 T A 13: 19,528,995 (GRCm39) probably benign Het
Usp16 G T 16: 87,268,724 (GRCm39) C284F probably damaging Het
Wipf1 T C 2: 73,267,441 (GRCm39) D319G probably damaging Het
Xpnpep3 T A 15: 81,326,649 (GRCm39) W347R probably damaging Het
Zfp180 G T 7: 23,804,537 (GRCm39) E319* probably null Het
Other mutations in Rab2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02167:Rab2b APN 14 52,506,153 (GRCm39) missense probably damaging 0.99
R4631:Rab2b UTSW 14 52,503,699 (GRCm39) missense possibly damaging 0.86
R6418:Rab2b UTSW 14 52,506,164 (GRCm39) utr 3 prime probably benign
R7166:Rab2b UTSW 14 52,516,802 (GRCm39) unclassified probably benign
R7721:Rab2b UTSW 14 52,501,217 (GRCm39) missense probably benign
R7739:Rab2b UTSW 14 52,503,717 (GRCm39) missense probably damaging 0.99
R8051:Rab2b UTSW 14 52,506,153 (GRCm39) missense probably damaging 0.99
R8208:Rab2b UTSW 14 52,502,224 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- TGTAAATAACAGTGGGGTCTAATCC -3'
(R):5'- CATTTCAAGGACCAACTGGCG -3'

Sequencing Primer
(F):5'- CAGTGGGGTCTAATCCATATATACC -3'
(R):5'- GACCAACTGGCGGTTTTAAACTG -3'
Posted On 2019-05-13