Incidental Mutation 'R2196:Rab3a'
ID 238362
Institutional Source Beutler Lab
Gene Symbol Rab3a
Ensembl Gene ENSMUSG00000031840
Gene Name RAB3A, member RAS oncogene family
Synonyms
MMRRC Submission 040198-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.551) question?
Stock # R2196 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 71207328-71211323 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71209872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 51 (S51P)
Ref Sequence ENSEMBL: ENSMUSP00000123384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034301] [ENSMUST00000038626] [ENSMUST00000110090] [ENSMUST00000110092] [ENSMUST00000110093] [ENSMUST00000143118]
AlphaFold P63011
Predicted Effect probably benign
Transcript: ENSMUST00000034301
AA Change: S146P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034301
Gene: ENSMUSG00000031840
AA Change: S146P

DomainStartEndE-ValueType
RAB 23 186 1.27e-98 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000038626
SMART Domains Protein: ENSMUSP00000037929
Gene: ENSMUSG00000035559

DomainStartEndE-ValueType
Pfam:Mpv17_PMP22 122 187 6.7e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110090
AA Change: S146P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105717
Gene: ENSMUSG00000031840
AA Change: S146P

DomainStartEndE-ValueType
RAB 23 186 1.27e-98 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110092
AA Change: S146P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105719
Gene: ENSMUSG00000031840
AA Change: S146P

DomainStartEndE-ValueType
RAB 23 186 1.27e-98 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110093
AA Change: S146P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105720
Gene: ENSMUSG00000031840
AA Change: S146P

DomainStartEndE-ValueType
RAB 23 186 1.27e-98 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130468
Predicted Effect probably benign
Transcript: ENSMUST00000143118
AA Change: S51P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123384
Gene: ENSMUSG00000031840
AA Change: S51P

DomainStartEndE-ValueType
Pfam:Miro 1 43 2.5e-6 PFAM
Pfam:Ras 1 62 3.8e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213010
Predicted Effect probably benign
Transcript: ENSMUST00000212617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212385
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mutants show impaired synaptic transmission, insulin secretion and glucose intolerance. This mutation and another chemically induced allele affect circadian period and sleep patterns. Heterozygotes show milder circadian rhythm anomalies. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T A 13: 12,290,065 (GRCm39) T734S probably damaging Het
Acvr2a A T 2: 48,760,324 (GRCm39) T27S possibly damaging Het
Ankhd1 T A 18: 36,781,432 (GRCm39) N2161K probably damaging Het
Apba3 A G 10: 81,107,542 (GRCm39) Y350C probably damaging Het
Bnipl T A 3: 95,157,181 (GRCm39) R47S possibly damaging Het
Cacna1b C T 2: 24,651,800 (GRCm39) M126I probably damaging Het
Cep112 G A 11: 108,461,187 (GRCm39) E329K probably damaging Het
Cep55 T A 19: 38,057,558 (GRCm39) Y187N probably damaging Het
Cngb3 T C 4: 19,415,690 (GRCm39) I400T possibly damaging Het
Csad T C 15: 102,096,028 (GRCm39) N142D probably benign Het
Dars1 A T 1: 128,306,595 (GRCm39) I195N probably damaging Het
Dmxl1 T A 18: 50,050,698 (GRCm39) L2454Q probably benign Het
Emc1 A T 4: 139,093,841 (GRCm39) E650D probably benign Het
Enam A G 5: 88,650,603 (GRCm39) D704G probably damaging Het
Fat1 T A 8: 45,477,683 (GRCm39) I2220N probably damaging Het
Fat4 T C 3: 39,035,566 (GRCm39) S3073P probably benign Het
Fbxl4 T C 4: 22,403,624 (GRCm39) M399T probably benign Het
Gcsh G A 8: 117,715,909 (GRCm39) T58M possibly damaging Het
Ghrhr T C 6: 55,356,726 (GRCm39) Y108H probably damaging Het
Gm5431 A T 11: 48,780,058 (GRCm39) I566N probably damaging Het
Gnb5 A T 9: 75,234,511 (GRCm39) D70V probably damaging Het
Grin2c G T 11: 115,141,492 (GRCm39) S875R probably benign Het
Itch A C 2: 155,044,141 (GRCm39) Q482P probably benign Het
Krt87 T C 15: 101,336,314 (GRCm39) E113G probably damaging Het
Map4 A G 9: 109,900,116 (GRCm39) E934G probably damaging Het
Mkx A G 18: 7,000,675 (GRCm39) L89P probably damaging Het
Myo15a T A 11: 60,400,847 (GRCm39) Y2982* probably null Het
Nedd4 C T 9: 72,632,356 (GRCm39) L397F possibly damaging Het
Nom1 A G 5: 29,641,019 (GRCm39) D353G probably benign Het
Notch1 A T 2: 26,353,816 (GRCm39) L1937* probably null Het
Nrxn2 A T 19: 6,540,139 (GRCm39) D820V probably damaging Het
Nup210 A T 6: 91,032,226 (GRCm39) N47K probably benign Het
Or1j12 T A 2: 36,342,600 (GRCm39) M1K probably null Het
Or4p21 G A 2: 88,277,054 (GRCm39) T76I probably benign Het
Or6d14 A T 6: 116,533,578 (GRCm39) Q64L probably damaging Het
Pcolce2 A T 9: 95,576,742 (GRCm39) I338F probably damaging Het
Pkd1 T C 17: 24,799,046 (GRCm39) M2755T possibly damaging Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 106,103,084 (GRCm39) probably benign Het
Scn10a G A 9: 119,438,070 (GRCm39) A1933V probably benign Het
Serpina1c T A 12: 103,862,370 (GRCm39) Y315F probably damaging Het
Slc29a4 A C 5: 142,698,650 (GRCm39) I104L possibly damaging Het
Spag16 G A 1: 69,897,681 (GRCm39) V144I possibly damaging Het
Spata22 A G 11: 73,236,660 (GRCm39) K322R probably benign Het
Sult2a8 T A 7: 14,161,778 (GRCm39) I23L probably benign Het
Thoc1 T A 18: 9,986,300 (GRCm39) V344D probably damaging Het
Tnn G C 1: 159,924,798 (GRCm39) Y1185* probably null Het
Trpc4 A G 3: 54,209,614 (GRCm39) I660V probably benign Het
Urb1 A G 16: 90,571,144 (GRCm39) Y1222H probably benign Het
Usp4 A G 9: 108,250,885 (GRCm39) E531G probably benign Het
Vmn2r93 C T 17: 18,525,428 (GRCm39) S362L probably damaging Het
Zfhx3 G T 8: 109,526,885 (GRCm39) E927D probably damaging Het
Zfp644 A T 5: 106,786,469 (GRCm39) M1K probably null Het
Zp2 T C 7: 119,737,529 (GRCm39) H252R probably benign Het
Other mutations in Rab3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1070:Rab3a UTSW 8 71,209,840 (GRCm39) missense probably damaging 1.00
R5315:Rab3a UTSW 8 71,208,569 (GRCm39) missense probably damaging 1.00
R6702:Rab3a UTSW 8 71,209,095 (GRCm39) missense probably damaging 1.00
R6703:Rab3a UTSW 8 71,209,095 (GRCm39) missense probably damaging 1.00
R7422:Rab3a UTSW 8 71,209,170 (GRCm39) missense possibly damaging 0.87
R9330:Rab3a UTSW 8 71,209,881 (GRCm39) missense probably damaging 0.99
R9533:Rab3a UTSW 8 71,209,804 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTGGACTCAGTTACCAAGGG -3'
(R):5'- TCAAGACCCATGGTAAAGCCTC -3'

Sequencing Primer
(F):5'- CTCAGTTACCAAGGGGCAGTG -3'
(R):5'- CCTGGATAAGGCCTAGTTTTCTCAAG -3'
Posted On 2014-10-02