Incidental Mutation 'R2240:Rab23'
ID 240280
Institutional Source Beutler Lab
Gene Symbol Rab23
Ensembl Gene ENSMUSG00000004768
Gene Name RAB23, member RAS oncogene family
Synonyms
MMRRC Submission 040240-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2240 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 33758968-33781645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33778406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 216 (N216S)
Ref Sequence ENSEMBL: ENSMUSP00000110828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088287] [ENSMUST00000115174] [ENSMUST00000138024]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000088287
AA Change: N216S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000085625
Gene: ENSMUSG00000004768
AA Change: N216S

DomainStartEndE-ValueType
RAB 10 172 7.79e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115174
AA Change: N216S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110828
Gene: ENSMUSG00000004768
AA Change: N216S

DomainStartEndE-ValueType
RAB 10 172 7.79e-58 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132066
Predicted Effect probably benign
Transcript: ENSMUST00000138024
SMART Domains Protein: ENSMUSP00000137896
Gene: ENSMUSG00000004768

DomainStartEndE-ValueType
Pfam:Miro 11 59 1.9e-6 PFAM
Pfam:Ras 11 61 6.3e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151482
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a spontaneous allele show neural tube defects, exencephaly, spinal cord and dorsal root ganglia anomalies, malformed eyes and defects in the axial skeleton and developing limbs. Mice homozygous for an ENU-induced allele die in utero with exencephaly, polydactyly and eye defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,595,417 (GRCm39) I318N probably damaging Het
Abl1 A G 2: 31,690,517 (GRCm39) K679E probably benign Het
Actr8 A G 14: 29,711,714 (GRCm39) H420R possibly damaging Het
Arhgap29 T A 3: 121,805,102 (GRCm39) V897D probably benign Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Bicc1 A G 10: 70,782,633 (GRCm39) probably null Het
Brd4 T C 17: 32,432,613 (GRCm39) probably benign Het
Camk2g T C 14: 20,815,514 (GRCm39) E184G probably damaging Het
Camta1 T C 4: 151,169,032 (GRCm39) S240G possibly damaging Het
Cbx7 C A 15: 79,802,558 (GRCm39) A240S probably damaging Het
Ccdc181 A T 1: 164,107,596 (GRCm39) D93V probably damaging Het
Ces2g A C 8: 105,689,134 (GRCm39) S37R probably benign Het
Clca3a1 T A 3: 144,714,746 (GRCm39) R624W probably damaging Het
Clca3b T C 3: 144,531,696 (GRCm39) K703E probably benign Het
Clec2h T C 6: 128,652,845 (GRCm39) V204A probably benign Het
Cltb T C 13: 54,746,967 (GRCm39) N3S possibly damaging Het
Col9a1 A G 1: 24,218,582 (GRCm39) I65V unknown Het
D430041D05Rik C T 2: 103,987,161 (GRCm39) R1895Q probably damaging Het
Dnah1 T C 14: 31,021,931 (GRCm39) S1191G probably benign Het
Ehf G A 2: 103,104,420 (GRCm39) P163S probably benign Het
Fam170b A C 14: 32,557,825 (GRCm39) H220P probably damaging Het
Fastkd1 G A 2: 69,527,297 (GRCm39) T598I probably benign Het
Fignl2 C T 15: 100,951,916 (GRCm39) G122D probably damaging Het
Foxp4 C A 17: 48,182,201 (GRCm39) V530L unknown Het
Gcnt1 G T 19: 17,306,695 (GRCm39) D343E possibly damaging Het
Gja8 T G 3: 96,827,618 (GRCm39) N15H probably benign Het
Gm128 T C 3: 95,148,243 (GRCm39) E17G probably benign Het
Gnl1 T C 17: 36,293,571 (GRCm39) V252A probably benign Het
Gpld1 G A 13: 25,166,490 (GRCm39) probably null Het
Gpr179 A G 11: 97,242,559 (GRCm39) L95P probably damaging Het
Gtf2a1 A T 12: 91,553,513 (GRCm39) D31E possibly damaging Het
Il12a T A 3: 68,601,517 (GRCm39) Y58* probably null Het
Il1r2 T C 1: 40,144,630 (GRCm39) W106R probably damaging Het
Kif26b A G 1: 178,543,488 (GRCm39) S374G probably benign Het
Mafb A T 2: 160,207,947 (GRCm39) V217E probably damaging Het
Mapk13 T A 17: 28,997,085 (GRCm39) D292E probably damaging Het
Matn2 A G 15: 34,433,209 (GRCm39) D871G probably damaging Het
Mdn1 C A 4: 32,765,701 (GRCm39) T5220K possibly damaging Het
Mfsd6 T C 1: 52,699,978 (GRCm39) I723M probably damaging Het
Mia2 G A 12: 59,154,668 (GRCm39) S127N probably benign Het
Mpeg1 A C 19: 12,440,402 (GRCm39) E620A probably damaging Het
Mrgprb3 A T 7: 48,293,389 (GRCm39) F54Y probably damaging Het
Mtx2 A G 2: 74,699,696 (GRCm39) I156V probably benign Het
Neurog1 T C 13: 56,399,348 (GRCm39) E133G probably damaging Het
Nid2 G A 14: 19,855,982 (GRCm39) D1236N probably damaging Het
Nif3l1 A G 1: 58,491,288 (GRCm39) T213A probably benign Het
Or7e173 A G 9: 19,938,440 (GRCm39) S265P probably damaging Het
Otog A G 7: 45,890,453 (GRCm39) M1V probably null Het
Pde4dip C T 3: 97,631,480 (GRCm39) R1143K probably benign Het
Pgam2 T C 11: 5,753,265 (GRCm39) probably benign Het
Plec T C 15: 76,090,250 (GRCm39) D30G probably damaging Het
Pramel5 C A 4: 143,999,506 (GRCm39) E194* probably null Het
Prss22 T A 17: 24,215,755 (GRCm39) S56C probably damaging Het
Rasgrf1 A T 9: 89,858,815 (GRCm39) E491V probably damaging Het
Rbbp8 C T 18: 11,810,726 (GRCm39) T76I probably damaging Het
Rtn2 G A 7: 19,020,754 (GRCm39) probably null Het
Sdr39u1 A T 14: 56,137,124 (GRCm39) N62K probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc26a3 T C 12: 31,507,071 (GRCm39) V342A probably damaging Het
Slc49a3 A G 5: 108,592,573 (GRCm39) S234P probably benign Het
Snx30 G T 4: 59,886,515 (GRCm39) C308F probably damaging Het
Timd2 A T 11: 46,569,043 (GRCm39) V205E probably benign Het
Tmcc1 C CAT 6: 116,019,831 (GRCm39) probably null Het
Tnfaip6 G A 2: 51,940,926 (GRCm39) D156N probably benign Het
Uggt2 T A 14: 119,232,461 (GRCm39) E1463D probably damaging Het
Urb2 C A 8: 124,756,878 (GRCm39) P862T probably benign Het
Vmn1r64 A T 7: 5,887,369 (GRCm39) L58* probably null Het
Vmn2r3 C A 3: 64,166,483 (GRCm39) G883C probably benign Het
Vps13d A T 4: 144,837,465 (GRCm39) C2707S possibly damaging Het
Wdr11 G T 7: 129,207,418 (GRCm39) probably null Het
Wdr37 T A 13: 8,911,268 (GRCm39) probably benign Het
Wtap G A 17: 13,194,352 (GRCm39) Q95* probably null Het
Zfp26 A T 9: 20,348,563 (GRCm39) L667H probably damaging Het
Zfp268 C T 4: 145,311,891 (GRCm39) probably benign Het
Other mutations in Rab23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02531:Rab23 APN 1 33,777,361 (GRCm39) splice site probably benign
R0309:Rab23 UTSW 1 33,773,942 (GRCm39) splice site probably null
R0798:Rab23 UTSW 1 33,773,908 (GRCm39) missense probably damaging 0.99
R1549:Rab23 UTSW 1 33,777,378 (GRCm39) missense possibly damaging 0.91
R1668:Rab23 UTSW 1 33,773,935 (GRCm39) nonsense probably null
R1976:Rab23 UTSW 1 33,763,019 (GRCm39) missense probably damaging 0.99
R2866:Rab23 UTSW 1 33,777,376 (GRCm39) missense possibly damaging 0.75
R4476:Rab23 UTSW 1 33,763,973 (GRCm39) intron probably benign
R4614:Rab23 UTSW 1 33,778,466 (GRCm39) missense probably benign 0.01
R5884:Rab23 UTSW 1 33,763,967 (GRCm39) intron probably benign
R5939:Rab23 UTSW 1 33,762,990 (GRCm39) missense probably damaging 1.00
R7567:Rab23 UTSW 1 33,773,812 (GRCm39) missense possibly damaging 0.91
R9418:Rab23 UTSW 1 33,777,424 (GRCm39) missense probably benign 0.00
R9614:Rab23 UTSW 1 33,764,077 (GRCm39) frame shift probably null
X0018:Rab23 UTSW 1 33,777,417 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATGCTGACCTTCCTGCTTAG -3'
(R):5'- CTTTCAGAGCGTGGTGAGAG -3'

Sequencing Primer
(F):5'- CGCTCTGTTCTAGTGCAGTAAGAAAC -3'
(R):5'- TGAGAGGCCCACGACAC -3'
Posted On 2014-10-15