Incidental Mutation 'R2034:Rgp1'
ID 224299
Institutional Source Beutler Lab
Gene Symbol Rgp1
Ensembl Gene ENSMUSG00000028468
Gene Name RAB6A GEF compex partner 1
Synonyms 1110029E03Rik
MMRRC Submission 040041-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2034 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 43578735-43587487 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 43581605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030189] [ENSMUST00000030190] [ENSMUST00000107884] [ENSMUST00000107886] [ENSMUST00000117140] [ENSMUST00000130443]
AlphaFold Q8BHT7
Predicted Effect probably null
Transcript: ENSMUST00000030189
SMART Domains Protein: ENSMUSP00000030189
Gene: ENSMUSG00000028467

DomainStartEndE-ValueType
Pfam:GBA2_N 142 446 9.4e-106 PFAM
Pfam:DUF608 512 879 1.3e-153 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000030190
AA Change: L294Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030190
Gene: ENSMUSG00000028468
AA Change: L294Q

DomainStartEndE-ValueType
low complexity region 34 47 N/A INTRINSIC
Pfam:Rgp1 66 212 3.4e-34 PFAM
Pfam:Rgp1 182 332 1.2e-41 PFAM
low complexity region 333 347 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107884
SMART Domains Protein: ENSMUSP00000103516
Gene: ENSMUSG00000078719

DomainStartEndE-ValueType
Pfam:PSP94 36 118 4.9e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107886
AA Change: L294Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103518
Gene: ENSMUSG00000028468
AA Change: L294Q

DomainStartEndE-ValueType
low complexity region 34 47 N/A INTRINSIC
low complexity region 63 77 N/A INTRINSIC
Pfam:Rgp1 84 164 3.3e-24 PFAM
Pfam:Rgp1 174 331 4.1e-26 PFAM
low complexity region 333 347 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117140
AA Change: L294Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113476
Gene: ENSMUSG00000028468
AA Change: L294Q

DomainStartEndE-ValueType
low complexity region 34 47 N/A INTRINSIC
low complexity region 63 77 N/A INTRINSIC
Pfam:Rgp1 84 165 2.9e-24 PFAM
Pfam:Rgp1 173 331 3.5e-26 PFAM
low complexity region 333 347 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128403
Predicted Effect probably null
Transcript: ENSMUST00000130443
SMART Domains Protein: ENSMUSP00000119589
Gene: ENSMUSG00000028467

DomainStartEndE-ValueType
Pfam:GBA2_N 142 180 5.6e-13 PFAM
Pfam:GBA2_N 178 227 1.5e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131178
Meta Mutation Damage Score 0.8121 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik T C 11: 69,791,385 (GRCm39) I65V probably benign Het
Abca13 A G 11: 9,242,628 (GRCm39) N1497S possibly damaging Het
Afmid C A 11: 117,726,061 (GRCm39) N184K probably benign Het
Ampd2 A T 3: 107,984,679 (GRCm39) I459N possibly damaging Het
Anapc1 T C 2: 128,490,378 (GRCm39) D1018G possibly damaging Het
Ano9 T A 7: 140,688,048 (GRCm39) I223F probably damaging Het
B3gnt6 A G 7: 97,843,225 (GRCm39) L245P possibly damaging Het
Bag6 G A 17: 35,363,668 (GRCm39) R784Q probably damaging Het
Brca1 C G 11: 101,380,675 (GRCm39) S1786T probably benign Het
Btbd3 T G 2: 138,120,903 (GRCm39) S26A probably benign Het
Cacna1d C A 14: 29,811,820 (GRCm39) V1277L probably damaging Het
Casp12 C T 9: 5,346,491 (GRCm39) T6I probably damaging Het
Col7a1 T C 9: 108,792,075 (GRCm39) V1262A unknown Het
Crh C A 3: 19,748,262 (GRCm39) G127C probably damaging Het
D5Ertd579e A T 5: 36,770,882 (GRCm39) L64* probably null Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Ddc T A 11: 11,830,456 (GRCm39) I63L probably benign Het
Eif3a C T 19: 60,750,568 (GRCm39) probably benign Het
Fsip2 T A 2: 82,819,838 (GRCm39) N5190K probably benign Het
Gm5420 A G 10: 21,567,512 (GRCm39) noncoding transcript Het
Grb14 A G 2: 64,753,873 (GRCm39) probably benign Het
Gsap A T 5: 21,475,593 (GRCm39) I545F probably damaging Het
Hectd1 A T 12: 51,803,899 (GRCm39) probably null Het
Helz2 G A 2: 180,874,371 (GRCm39) P2041L probably damaging Het
Herc1 G A 9: 66,349,254 (GRCm39) A2038T probably benign Het
Il10 C A 1: 130,951,922 (GRCm39) Q152K probably benign Het
Klrg1 A G 6: 122,256,596 (GRCm39) probably null Het
Lrig2 T C 3: 104,401,408 (GRCm39) T160A probably benign Het
Mmd2 A T 5: 142,560,939 (GRCm39) probably null Het
Mmp2 C T 8: 93,563,540 (GRCm39) S338F probably damaging Het
Nalcn T G 14: 123,521,015 (GRCm39) D1630A probably benign Het
Ncoa2 T C 1: 13,235,207 (GRCm39) S909G probably benign Het
Neb A T 2: 52,170,623 (GRCm39) M1683K possibly damaging Het
Nfe2l3 A G 6: 51,435,350 (GRCm39) I637V possibly damaging Het
Npw G A 17: 24,877,242 (GRCm39) S53F probably damaging Het
Nrbf2 A T 10: 67,111,343 (GRCm39) probably benign Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Nup188 T A 2: 30,200,097 (GRCm39) probably benign Het
Or4k15c T C 14: 50,321,440 (GRCm39) M233V probably benign Het
Or5b21 T A 19: 12,839,151 (GRCm39) M4K possibly damaging Het
Parp4 A T 14: 56,871,720 (GRCm39) I1133F probably damaging Het
Pcdhb11 T C 18: 37,555,546 (GRCm39) V292A probably benign Het
Pcnx2 A G 8: 126,545,406 (GRCm39) probably null Het
Phf2 A G 13: 48,971,206 (GRCm39) S489P unknown Het
Pik3r5 T A 11: 68,384,403 (GRCm39) N598K probably damaging Het
Pikfyve A T 1: 65,261,516 (GRCm39) E432D probably damaging Het
Pink1 T C 4: 138,045,343 (GRCm39) I274V possibly damaging Het
Pkhd1 G A 1: 20,270,893 (GRCm39) T3220I probably damaging Het
Plxna2 A G 1: 194,462,902 (GRCm39) I890V probably benign Het
Pomgnt1 T C 4: 116,015,124 (GRCm39) V492A possibly damaging Het
Prp2 G T 6: 132,572,947 (GRCm39) probably null Het
Rabl6 T C 2: 25,475,444 (GRCm39) E543G possibly damaging Het
Rps6kb2 T C 19: 4,211,106 (GRCm39) T140A probably damaging Het
S100a11 T C 3: 93,433,429 (GRCm39) I91T probably benign Het
Serpine2 A G 1: 79,774,569 (GRCm39) L230P probably damaging Het
Sh3tc2 A G 18: 62,120,737 (GRCm39) D370G probably damaging Het
Sim2 A C 16: 93,886,801 (GRCm39) I43L probably damaging Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Slc14a2 A G 18: 78,226,798 (GRCm39) L419P probably damaging Het
Srgap1 C T 10: 121,628,651 (GRCm39) E817K probably damaging Het
Stag3 A G 5: 138,296,263 (GRCm39) E442G possibly damaging Het
Sulf1 A G 1: 12,890,645 (GRCm39) N361S probably damaging Het
Tmco6 A G 18: 36,870,909 (GRCm39) probably null Het
Tmem104 T A 11: 115,134,373 (GRCm39) I303N probably benign Het
Ttll6 G T 11: 96,026,352 (GRCm39) D86Y probably damaging Het
Tut4 C T 4: 108,369,392 (GRCm39) R651W probably damaging Het
Vmn1r120 T G 7: 20,786,883 (GRCm39) E276A possibly damaging Het
Vmn1r64 A G 7: 5,886,988 (GRCm39) M185T probably benign Het
Vmn2r85 A T 10: 130,262,242 (GRCm39) probably benign Het
Vwa3a A T 7: 120,381,868 (GRCm39) K568* probably null Het
Other mutations in Rgp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02349:Rgp1 APN 4 43,581,236 (GRCm39) splice site probably null
IGL02956:Rgp1 APN 4 43,581,505 (GRCm39) missense possibly damaging 0.87
R5219:Rgp1 UTSW 4 43,579,440 (GRCm39) missense probably damaging 0.99
R8000:Rgp1 UTSW 4 43,581,664 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCTGCCTCTAACCTACAGTC -3'
(R):5'- AGAGATCAGTGCATCCCAGG -3'

Sequencing Primer
(F):5'- GTCCACATCTCCAAATGCCCG -3'
(R):5'- ACAGTATTTAGGGGTCAGTACAC -3'
Posted On 2014-08-25