Incidental Mutation 'R6551:Rph3al'
ID 521638
Institutional Source Beutler Lab
Gene Symbol Rph3al
Ensembl Gene ENSMUSG00000020847
Gene Name rabphilin 3A-like (without C2 domains)
Synonyms LOC385671, Noc2, 6530413F01Rik
MMRRC Submission 044676-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R6551 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 75721825-75829255 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 75797372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 108 (S108F)
Ref Sequence ENSEMBL: ENSMUSP00000104058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021208] [ENSMUST00000066504] [ENSMUST00000108420] [ENSMUST00000121287] [ENSMUST00000152035]
AlphaFold Q768S4
Predicted Effect possibly damaging
Transcript: ENSMUST00000021208
AA Change: S108F

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021208
Gene: ENSMUSG00000020847
AA Change: S108F

DomainStartEndE-ValueType
Pfam:FYVE_2 45 121 4.6e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000066504
AA Change: S108F

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000064202
Gene: ENSMUSG00000020847
AA Change: S108F

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 possibly damaging
Transcript: ENSMUST00000108420
AA Change: S108F

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104058
Gene: ENSMUSG00000020847
AA Change: S108F

DomainStartEndE-ValueType
Pfam:FYVE_2 45 121 4.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121287
AA Change: S108F

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113869
Gene: ENSMUSG00000020847
AA Change: S108F

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
Predicted Effect probably benign
Transcript: ENSMUST00000152035
SMART Domains Protein: ENSMUSP00000121304
Gene: ENSMUSG00000020847

DomainStartEndE-ValueType
Pfam:FYVE_2 45 99 8.4e-16 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (41/41)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A T 1: 192,856,831 (GRCm39) Q61L probably damaging Het
Acss2 T C 2: 155,393,128 (GRCm39) S285P probably benign Het
Ager A G 17: 34,818,442 (GRCm39) probably null Het
Alkbh7 T A 17: 57,305,945 (GRCm39) Y115* probably null Het
Brwd1 T C 16: 95,795,162 (GRCm39) D2184G possibly damaging Het
Chp1 T A 2: 119,402,294 (GRCm39) H89Q possibly damaging Het
Clmp T C 9: 40,682,573 (GRCm39) V119A probably benign Het
Cryge A T 1: 65,087,796 (GRCm39) M171K probably benign Het
Cttnbp2nl A T 3: 104,912,433 (GRCm39) S484T possibly damaging Het
Dsg3 C A 18: 20,672,968 (GRCm39) P880T unknown Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Espn T C 4: 152,213,223 (GRCm39) Het
Fbxo31 A C 8: 122,291,443 (GRCm39) probably benign Het
Grin2b A G 6: 135,710,342 (GRCm39) V1068A probably damaging Het
Jak1 C A 4: 101,051,040 (GRCm39) probably benign Het
Klra10 A T 6: 130,252,718 (GRCm39) D185E probably benign Het
Lhx1 A C 11: 84,412,739 (GRCm39) D60E probably benign Het
Lyar C A 5: 38,390,616 (GRCm39) A326D probably damaging Het
Muc16 A C 9: 18,473,858 (GRCm39) S1280A possibly damaging Het
Nol9 G A 4: 152,136,325 (GRCm39) V466I possibly damaging Het
Or10d1 C A 9: 39,483,856 (GRCm39) R233L probably benign Het
Or12e8 T C 2: 87,677,005 (GRCm39) V130A possibly damaging Het
Or1e17 T C 11: 73,831,129 (GRCm39) I19T probably benign Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Or2w3b A T 11: 58,623,583 (GRCm39) M136K probably damaging Het
Or2y10 G T 11: 49,454,816 (GRCm39) V23L probably benign Het
Pik3c2a A T 7: 116,016,731 (GRCm39) I342N probably damaging Het
Pnldc1 A G 17: 13,124,456 (GRCm39) M133T probably damaging Het
Rab11fip1 G A 8: 27,646,512 (GRCm39) S188L probably damaging Het
Rapgef2 A T 3: 79,122,342 (GRCm39) probably null Het
Rnf103 G A 6: 71,487,349 (GRCm39) C660Y probably damaging Het
Srsf7 A C 17: 80,511,648 (GRCm39) probably benign Het
Ssrp1 A G 2: 84,871,450 (GRCm39) probably null Het
Tamm41 T C 6: 114,989,142 (GRCm39) D284G possibly damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmem39b A G 4: 129,585,896 (GRCm39) V25A probably benign Het
Tmem88b G T 4: 155,870,149 (GRCm39) probably benign Het
Unk T C 11: 115,941,550 (GRCm39) W266R probably damaging Het
Usp8 T A 2: 126,575,102 (GRCm39) probably benign Het
Zbtb48 T G 4: 152,106,678 (GRCm39) Q142P probably benign Het
Zdhhc18 T C 4: 133,340,960 (GRCm39) T267A probably benign Het
Zfp335 G A 2: 164,751,285 (GRCm39) P94S probably benign 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
R2340:Rph3al UTSW 11 75,724,258 (GRCm39) missense probably benign
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
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'- ACACCCAGGTTCGCAATCTC -3'
(R):5'- GTGTATGCTTAGACTCCCACTGC -3'

Sequencing Primer
(F):5'- TTGCCAGGGCTAGCTCTAGAAG -3'
(R):5'- TGCAGTCCTCTGAAGCACC -3'
Posted On 2018-06-06