Incidental Mutation 'R8690:Rab25'
ID 668291
Institutional Source Beutler Lab
Gene Symbol Rab25
Ensembl Gene ENSMUSG00000008601
Gene Name RAB25, member RAS oncogene family
Synonyms
MMRRC Submission 068544-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R8690 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 88449335-88455586 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88452388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 73 (R73S)
Ref Sequence ENSEMBL: ENSMUSP00000008745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008745] [ENSMUST00000029698] [ENSMUST00000119002] [ENSMUST00000131775] [ENSMUST00000172699]
AlphaFold Q9WTL2
Predicted Effect probably damaging
Transcript: ENSMUST00000008745
AA Change: R73S

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000008745
Gene: ENSMUSG00000008601
AA Change: R73S

DomainStartEndE-ValueType
RAB 13 176 2.1e-95 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000029698
SMART Domains Protein: ENSMUSP00000029698
Gene: ENSMUSG00000028062

DomainStartEndE-ValueType
Robl_LC7 7 95 2.65e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119002
SMART Domains Protein: ENSMUSP00000112936
Gene: ENSMUSG00000028062

DomainStartEndE-ValueType
Blast:Robl_LC7 1 22 2e-8 BLAST
PDB:3CPT|B 1 52 2e-32 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000131775
AA Change: R19S

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120505
Gene: ENSMUSG00000008601
AA Change: R19S

DomainStartEndE-ValueType
RAB 3 122 6.15e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172699
SMART Domains Protein: ENSMUSP00000134222
Gene: ENSMUSG00000074480

DomainStartEndE-ValueType
low complexity region 14 24 N/A INTRINSIC
low complexity region 37 51 N/A INTRINSIC
low complexity region 53 110 N/A INTRINSIC
KH 130 198 3.35e-9 SMART
KH 222 289 4.59e-16 SMART
low complexity region 406 415 N/A INTRINSIC
RING 469 508 1.39e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (73/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RAS superfamily of small GTPases. The encoded protein is involved in membrane trafficking and cell survival. This gene has been found to be a tumor suppressor and an oncogene, depending on the context. Two variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2015]
PHENOTYPE: On a 129 background, virgin female homozygotes older than 10 months of age develop vaginal cancer while both male and female homozygotes develop distal esophageal stricture due to squamous cell hyperplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik T A 12: 55,107,957 (GRCm39) T81S possibly damaging Het
Ablim2 C T 5: 36,030,518 (GRCm39) A581V possibly damaging Het
Acbd5 T A 2: 22,979,710 (GRCm39) S210T probably benign Het
Adam10 T A 9: 70,655,505 (GRCm39) F324L probably damaging Het
Ak6 A G 13: 100,791,857 (GRCm39) N100S possibly damaging Het
Angptl3 G T 4: 98,925,759 (GRCm39) V362L probably benign Het
Ano9 C A 7: 140,684,220 (GRCm39) W514L probably benign Het
Asb8 T C 15: 98,034,108 (GRCm39) Y149C probably damaging Het
Bcl6b C A 11: 70,117,447 (GRCm39) A392S probably damaging Het
Cad T A 5: 31,232,500 (GRCm39) I1855N possibly damaging Het
Calm5 G A 13: 3,904,277 (GRCm39) G4R probably damaging Het
Carm1 T C 9: 21,480,808 (GRCm39) V94A probably damaging Het
Ccnl1 A T 3: 65,855,165 (GRCm39) S399R possibly damaging Het
Cdh17 T A 4: 11,783,163 (GRCm39) I168N probably benign Het
Ces2g C T 8: 105,693,605 (GRCm39) R429C probably benign Het
Chd3 T C 11: 69,246,648 (GRCm39) probably benign Het
Cmtr2 T A 8: 110,948,977 (GRCm39) M429K probably benign Het
Cnga1 T G 5: 72,761,835 (GRCm39) I560L probably benign Het
Col6a5 A G 9: 105,759,796 (GRCm39) Y1975H probably damaging Het
Copb1 T C 7: 113,849,463 (GRCm39) I47V probably benign Het
Crbn G A 6: 106,777,010 (GRCm39) probably benign Het
Ddx41 A G 13: 55,680,939 (GRCm39) L324P probably damaging Het
Dhx57 A G 17: 80,577,794 (GRCm39) probably benign Het
Dlgap2 A T 8: 14,793,430 (GRCm39) I475F probably benign Het
Dock2 T A 11: 34,618,287 (GRCm39) K110* probably null Het
Dpp7 T C 2: 25,245,645 (GRCm39) D147G probably damaging Het
Dync2h1 G T 9: 7,075,824 (GRCm39) D3014E probably damaging Het
Efcab5 A T 11: 76,994,115 (GRCm39) F1291I probably damaging Het
Endov T A 11: 119,382,736 (GRCm39) V61D probably benign Het
Etv3 C A 3: 87,443,786 (GRCm39) P457T possibly damaging Het
Fam185a T A 5: 21,638,766 (GRCm39) H199Q probably benign Het
Fat3 T A 9: 15,878,397 (GRCm39) E3361D probably benign Het
Fbn1 T C 2: 125,186,015 (GRCm39) probably benign Het
Gm17079 A T 14: 51,932,787 (GRCm39) W37R Het
Gpr68 T C 12: 100,845,292 (GRCm39) H84R probably benign Het
Gramd1b A T 9: 40,215,674 (GRCm39) S725R probably damaging Het
Greb1 T A 12: 16,746,548 (GRCm39) T1241S probably benign Het
Hcn4 T C 9: 58,751,193 (GRCm39) M273T probably benign Het
Hdlbp A G 1: 93,341,640 (GRCm39) V973A probably damaging Het
Ighv8-11 A T 12: 115,531,164 (GRCm39) probably benign Het
Itpkb A T 1: 180,249,346 (GRCm39) Q907L probably benign Het
Lmo7 T A 14: 102,168,644 (GRCm39) N1634K unknown Het
Lrrk1 C A 7: 65,952,477 (GRCm39) L486F probably benign Het
Mdfic G A 6: 15,799,653 (GRCm39) C260Y probably damaging Het
Mdh2 T C 5: 135,814,882 (GRCm39) I140T probably benign Het
Myo9a T C 9: 59,782,657 (GRCm39) V1775A probably benign Het
Or1j14 T C 2: 36,418,207 (GRCm39) V261A probably benign Het
Or51d1 C A 7: 102,348,028 (GRCm39) D194E probably damaging Het
Or52n3 T C 7: 104,530,762 (GRCm39) Y283H probably damaging Het
P2rx2 C T 5: 110,490,380 (GRCm39) V112I probably damaging Het
Psme4 T A 11: 30,787,319 (GRCm39) V1038E probably benign Het
Rab8a TA TAA 8: 72,925,130 (GRCm39) probably null Het
Rnf213 T C 11: 119,308,955 (GRCm39) Y729H Het
Rnf213 A G 11: 119,332,038 (GRCm39) T2417A Het
Rnft2 C A 5: 118,366,935 (GRCm39) A268S probably benign Het
Samhd1 T C 2: 156,971,794 (GRCm39) D116G probably benign Het
Sema6d T A 2: 124,506,937 (GRCm39) V915E probably benign Het
Sp140l2 G A 1: 85,235,170 (GRCm39) H130Y probably benign Het
Srcin1 C A 11: 97,414,368 (GRCm39) R1045L probably damaging Het
St18 T A 1: 6,872,788 (GRCm39) N174K probably benign Het
Stac3 G A 10: 127,339,494 (GRCm39) C130Y probably damaging Het
Stum G C 1: 180,310,740 (GRCm39) P52R probably damaging Het
Tbc1d2 C T 4: 46,615,106 (GRCm39) E526K possibly damaging Het
Tiam1 A G 16: 89,694,900 (GRCm39) S186P probably damaging Het
Tiparp G C 3: 65,460,963 (GRCm39) V651L probably benign Het
Tmem19 C T 10: 115,179,765 (GRCm39) G244S probably damaging Het
Trip11 A T 12: 101,839,656 (GRCm39) V1658D possibly damaging Het
Ttyh3 A C 5: 140,612,944 (GRCm39) Y453D probably damaging Het
Ttyh3 G T 5: 140,612,945 (GRCm39) S452R probably benign Het
Ube2h C T 6: 30,262,338 (GRCm39) probably benign Het
Zbtb4 T C 11: 69,667,618 (GRCm39) S308P probably damaging Het
Zfyve1 T C 12: 83,597,681 (GRCm39) E672G probably damaging Het
Zswim5 G A 4: 116,842,002 (GRCm39) D861N probably damaging Het
Other mutations in Rab25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Rab25 APN 3 88,452,546 (GRCm39) missense probably damaging 1.00
IGL02444:Rab25 APN 3 88,450,020 (GRCm39) missense probably benign 0.24
IGL03098:Rab25 UTSW 3 88,449,567 (GRCm39) missense probably damaging 1.00
R0165:Rab25 UTSW 3 88,455,362 (GRCm39) missense probably benign 0.00
R1980:Rab25 UTSW 3 88,450,765 (GRCm39) missense probably damaging 0.97
R5175:Rab25 UTSW 3 88,450,728 (GRCm39) missense possibly damaging 0.95
R6612:Rab25 UTSW 3 88,450,710 (GRCm39) missense probably damaging 0.99
R7688:Rab25 UTSW 3 88,452,270 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TGGTCAGTCACAGCACTTG -3'
(R):5'- AGACTGTCGAGCTCAGGTAG -3'

Sequencing Primer
(F):5'- GGTCAGTCACAGCACTTGTTTCC -3'
(R):5'- TCAGGTAGGCTCAGAGCTG -3'
Posted On 2021-04-30