Incidental Mutation 'R2340:Rph3al'
ID 246716
Institutional Source Beutler Lab
Gene Symbol Rph3al
Ensembl Gene ENSMUSG00000020847
Gene Name rabphilin 3A-like (without C2 domains)
Synonyms LOC385671, Noc2, 6530413F01Rik
MMRRC Submission 040326-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R2340 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 75721825-75829255 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75724258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 282 (T282A)
Ref Sequence ENSEMBL: ENSMUSP00000113869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066504] [ENSMUST00000121287]
AlphaFold Q768S4
Predicted Effect probably benign
Transcript: ENSMUST00000066504
AA Change: T282A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064202
Gene: ENSMUSG00000020847
AA Change: T282A

DomainStartEndE-ValueType
Pfam:FYVE_2 45 159 5.3e-40 PFAM
low complexity region 207 221 N/A INTRINSIC
low complexity region 258 269 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121287
AA Change: T282A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113869
Gene: ENSMUSG00000020847
AA Change: T282A

DomainStartEndE-ValueType
Pfam:FYVE_2 45 159 5.4e-41 PFAM
low complexity region 207 221 N/A INTRINSIC
low complexity region 258 269 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 97% (37/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit disregulation of exocytosis in both endocrine and exocrine cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Abca13 A T 11: 9,349,165 (GRCm39) I3580F probably damaging Het
B3glct A G 5: 149,668,905 (GRCm39) K280E probably benign Het
Chd6 TG T 2: 160,807,679 (GRCm39) probably null Het
Clu T C 14: 66,218,358 (GRCm39) V406A probably damaging Het
D930020B18Rik A G 10: 121,490,741 (GRCm39) K114E probably damaging Het
Dsg1c T A 18: 20,400,945 (GRCm39) D149E probably damaging Het
Entrep2 A G 7: 64,425,565 (GRCm39) S176P probably benign Het
Fat2 A T 11: 55,160,922 (GRCm39) D3269E possibly damaging Het
Frmd4a A G 2: 4,591,187 (GRCm39) D69G probably damaging Het
Hacd1 G T 2: 14,040,698 (GRCm39) P186T probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Kif2c A G 4: 117,027,038 (GRCm39) V320A probably damaging Het
Lypd2 T A 15: 74,606,103 (GRCm39) I12L probably benign Het
Midn G T 10: 79,985,946 (GRCm39) R12L possibly damaging Het
Or2b6 T C 13: 21,822,757 (GRCm39) K312R probably benign Het
Or8g34 A G 9: 39,373,105 (GRCm39) Y126C probably damaging Het
Or9q2 A G 19: 13,772,135 (GRCm39) V280A probably benign Het
Pkhd1 A T 1: 20,271,079 (GRCm39) V3158E probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Rad51d T C 11: 82,772,647 (GRCm39) D206G probably damaging Het
Rcan1 A G 16: 92,194,240 (GRCm39) F58L probably damaging Het
Rnf145 T C 11: 44,422,205 (GRCm39) I96T probably benign Het
Rnf216 A T 5: 143,066,089 (GRCm39) F500I probably damaging Het
Serpina11 T C 12: 103,951,002 (GRCm39) R240G probably benign Het
Slc12a2 T A 18: 58,033,122 (GRCm39) I400N probably benign Het
Slco1a4 C A 6: 141,787,103 (GRCm39) C28F probably benign Het
Sned1 T A 1: 93,184,174 (GRCm39) I134N probably damaging Het
Spock3 T A 8: 63,798,747 (GRCm39) M253K probably damaging Het
Tmem184b T A 15: 79,262,732 (GRCm39) M42L probably benign Het
Tnnt1 G A 7: 4,516,615 (GRCm39) probably benign Het
Ttll5 T A 12: 85,938,922 (GRCm39) S407T probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Zfat T C 15: 67,973,390 (GRCm39) E1117G probably damaging Het
Zfp606 A G 7: 12,227,016 (GRCm39) E321G possibly damaging Het
Other mutations in Rph3al
AlleleSourceChrCoordTypePredicted EffectPPH Score
continental UTSW 11 75,799,810 (GRCm39) nonsense probably null
R0472:Rph3al UTSW 11 75,799,795 (GRCm39) missense probably benign 0.31
R0565:Rph3al UTSW 11 75,724,227 (GRCm39) critical splice donor site probably null
R0609:Rph3al UTSW 11 75,799,795 (GRCm39) missense probably benign 0.31
R1606:Rph3al UTSW 11 75,797,367 (GRCm39) missense probably damaging 1.00
R2520:Rph3al UTSW 11 75,797,373 (GRCm39) missense possibly damaging 0.94
R2943:Rph3al UTSW 11 75,725,714 (GRCm39) splice site probably null
R4753:Rph3al UTSW 11 75,799,845 (GRCm39) missense probably damaging 1.00
R6551:Rph3al UTSW 11 75,797,372 (GRCm39) missense possibly damaging 0.94
R6699:Rph3al UTSW 11 75,791,663 (GRCm39) intron probably benign
R6711:Rph3al UTSW 11 75,799,810 (GRCm39) nonsense probably null
R6965:Rph3al UTSW 11 75,745,276 (GRCm39) missense probably damaging 1.00
R8953:Rph3al UTSW 11 75,797,401 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACCATTCTGAGTCCCTCTGG -3'
(R):5'- TTCCAGAGACAATTTGGCCAGC -3'

Sequencing Primer
(F):5'- ATTCTGAGTCCCTCTGGCCAAAG -3'
(R):5'- CAGAGACAATTTGGCCAGCTTTTTG -3'
Posted On 2014-10-30