Incidental Mutation 'R5398:Rragb'
ID 429829
Institutional Source Beutler Lab
Gene Symbol Rragb
Ensembl Gene ENSMUSG00000041658
Gene Name Ras-related GTP binding B
Synonyms
MMRRC Submission 042969-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R5398 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 151922977-151954939 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 151923550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 24 (G24E)
Ref Sequence ENSEMBL: ENSMUSP00000134162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039720] [ENSMUST00000144175]
AlphaFold Q6NTA4
Predicted Effect possibly damaging
Transcript: ENSMUST00000039720
AA Change: G24E

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039013
Gene: ENSMUSG00000041658
AA Change: G24E

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Arf 32 241 1.2e-6 PFAM
Pfam:Ras 42 238 3.8e-6 PFAM
Pfam:Gtr1_RagA 42 296 1.8e-107 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000144175
AA Change: G24E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134162
Gene: ENSMUSG00000041658
AA Change: G24E

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Gtr1_RagA 42 116 7.9e-39 PFAM
Meta Mutation Damage Score 0.0710 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.4%
Validation Efficiency 95% (59/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ras-homologous GTPases constitute a large family of signal transducers that alternate between an activated, GTP-binding state and an inactivated, GDP-binding state. These proteins represent cellular switches that are operated by GTP-exchange factors and factors that stimulate their intrinsic GTPase activity. All GTPases of the Ras superfamily have in common the presence of six conserved motifs involved in GTP/GDP binding, three of which are phosphate-/magnesium-binding sites (PM1-PM3) and three of which are guanine nucleotide-binding sites (G1-G3). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A G 8: 25,362,595 (GRCm39) L34P possibly damaging Het
Adam34 A C 8: 44,104,278 (GRCm39) C456G probably damaging Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Atp8b3 T C 10: 80,365,533 (GRCm39) D407G probably damaging Het
Btbd19 G A 4: 116,980,957 (GRCm39) A104V probably damaging Het
Chac1 T G 2: 119,183,725 (GRCm39) L109R possibly damaging Het
Csf2rb A G 15: 78,232,820 (GRCm39) D709G probably benign Het
Ddx42 T A 11: 106,115,724 (GRCm39) D112E probably benign Het
Dnah5 A G 15: 28,293,872 (GRCm39) K1326E probably benign Het
Dnajc3 T A 14: 119,209,799 (GRCm39) Y291* probably null Het
Dsg2 T C 18: 20,712,190 (GRCm39) F109L probably benign Het
Egfl8 T C 17: 34,833,613 (GRCm39) probably benign Het
Emb T A 13: 117,404,088 (GRCm39) I280N probably damaging Het
Gcc2 C A 10: 58,105,329 (GRCm39) N188K probably benign Het
Gdpd4 A T 7: 97,621,185 (GRCm39) H166L probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm8741 G T 17: 35,555,062 (GRCm39) noncoding transcript Het
Itga11 A G 9: 62,653,205 (GRCm39) T360A probably benign Het
Kctd1 A G 18: 15,195,322 (GRCm39) S434P possibly damaging Het
Kdm5b G A 1: 134,549,836 (GRCm39) probably null Het
Kif24 T C 4: 41,394,401 (GRCm39) E824G possibly damaging Het
Lekr1 T A 3: 65,688,807 (GRCm39) noncoding transcript Het
Ociad1 T A 5: 73,467,755 (GRCm39) V231E probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or1l4 C A 2: 37,091,330 (GRCm39) Q26K probably benign Het
Pcdhb1 T C 18: 37,399,207 (GRCm39) L386P probably damaging Het
Pcdhb21 G T 18: 37,648,772 (GRCm39) V634L probably benign Het
Pcnx2 T C 8: 126,614,687 (GRCm39) K255E possibly damaging Het
Pex5l T A 3: 33,006,639 (GRCm39) I577F probably damaging Het
Ppl A G 16: 4,922,786 (GRCm39) M235T probably benign Het
Prl7d1 T A 13: 27,894,057 (GRCm39) I171F probably damaging Het
Ptprt T C 2: 161,769,512 (GRCm39) Y451C probably damaging Het
Ranbp17 A T 11: 33,424,998 (GRCm39) Y453N probably damaging Het
Rgs16 C T 1: 153,616,246 (GRCm39) T11I probably benign Het
Scn9a T C 2: 66,318,387 (GRCm39) Y1479C probably damaging Het
Slc35f4 T C 14: 49,536,304 (GRCm39) T294A probably damaging Het
Slc39a6 A T 18: 24,730,936 (GRCm39) I61N probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Spink12 A G 18: 44,240,794 (GRCm39) D60G possibly damaging Het
Sppl2a T C 2: 126,761,638 (GRCm39) I289V probably benign Het
Srebf2 A G 15: 82,055,443 (GRCm39) T176A probably damaging Het
Syce1l T C 8: 114,379,145 (GRCm39) L91S probably damaging Het
Tchhl1 T C 3: 93,378,910 (GRCm39) I538T probably benign Het
Tcte1 C T 17: 45,850,752 (GRCm39) Q343* probably null Het
Tdpoz2 T G 3: 93,559,441 (GRCm39) D177A probably damaging Het
Thada T G 17: 84,733,614 (GRCm39) D1011A probably benign Het
Tnn T A 1: 159,975,092 (GRCm39) M112L probably benign Het
Traf1 T C 2: 34,835,447 (GRCm39) E325G probably damaging Het
Tyw1 T C 5: 130,305,998 (GRCm39) probably benign Het
Vmn2r111 C A 17: 22,792,252 (GRCm39) M1I probably null Het
Wdr11 C T 7: 129,232,956 (GRCm39) T996M probably damaging Het
Other mutations in Rragb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Rragb APN X 151,954,294 (GRCm39) missense possibly damaging 0.75
IGL03268:Rragb APN X 151,923,493 (GRCm39) missense unknown
R5399:Rragb UTSW X 151,923,550 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCGGGTCGGTAAAGGTAAC -3'
(R):5'- CTGTTTTCCGTCATCAAGGGC -3'

Sequencing Primer
(F):5'- TGTGGGAAAAGCGGCCC -3'
(R):5'- TCCGTCATCAAGGGCATGATATC -3'
Posted On 2016-09-06