Incidental Mutation 'IGL02429:Rph3a'
ID293077
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rph3a
Ensembl Gene ENSMUSG00000029608
Gene Namerabphilin 3A
Synonyms2900002P20Rik, Doc2 family
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02429
Quality Score
Status
Chromosome5
Chromosomal Location120940499-121010092 bp(-) (GRCm38)
Type of Mutationsplice site (6 bp from exon)
DNA Base Change (assembly) A to T at 120980124 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079204] [ENSMUST00000200792] [ENSMUST00000202326] [ENSMUST00000202406]
Predicted Effect probably null
Transcript: ENSMUST00000079204
SMART Domains Protein: ENSMUSP00000078198
Gene: ENSMUSG00000029608

DomainStartEndE-ValueType
Pfam:FYVE_2 44 158 1e-38 PFAM
low complexity region 271 300 N/A INTRINSIC
low complexity region 347 377 N/A INTRINSIC
C2 395 500 2.93e-22 SMART
C2 553 667 1.85e-19 SMART
Predicted Effect probably null
Transcript: ENSMUST00000200792
Predicted Effect probably null
Transcript: ENSMUST00000202326
SMART Domains Protein: ENSMUSP00000144291
Gene: ENSMUSG00000029608

DomainStartEndE-ValueType
Pfam:FYVE_2 44 158 1e-38 PFAM
low complexity region 271 300 N/A INTRINSIC
low complexity region 347 377 N/A INTRINSIC
C2 395 500 2.93e-22 SMART
C2 553 667 1.85e-19 SMART
Predicted Effect probably null
Transcript: ENSMUST00000202406
SMART Domains Protein: ENSMUSP00000143917
Gene: ENSMUSG00000029608

DomainStartEndE-ValueType
Pfam:FYVE_2 44 158 1e-38 PFAM
low complexity region 271 300 N/A INTRINSIC
low complexity region 347 377 N/A INTRINSIC
C2 395 500 2.93e-22 SMART
C2 553 667 1.85e-19 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic. [provided by RefSeq, Dec 2016]
PHENOTYPE: Homozygous mutants are viable and fertile and do not exhibit any obvious abnormal phenotypes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd A T 1: 127,759,716 D245V probably damaging Het
Adamts16 G A 13: 70,787,170 probably benign Het
Arhgap36 A G X: 49,494,706 D77G possibly damaging Het
Asap1 A T 15: 64,167,740 M187K probably damaging Het
Aspm T C 1: 139,479,810 V2145A probably benign Het
Casc4 A G 2: 121,911,987 T306A probably benign Het
Cd46 T C 1: 195,085,424 T110A probably benign Het
Chl1 T A 6: 103,664,809 probably benign Het
Clca3b A G 3: 144,828,135 L493S probably damaging Het
Col11a2 C T 17: 34,042,292 T72M probably damaging Het
Cyfip1 T A 7: 55,871,982 probably benign Het
Frmd4b T C 6: 97,325,429 probably benign Het
Glyr1 A G 16: 5,019,376 M397T probably benign Het
Gtf2a1l G T 17: 88,668,713 M1I probably null Het
Hdac4 A G 1: 92,012,695 L154P probably benign Het
Ints8 A T 4: 11,231,720 C422S probably damaging Het
Kng2 T A 16: 23,012,079 K160I probably damaging Het
Lrrc23 C A 6: 124,778,167 A136S probably damaging Het
Ltf T C 9: 111,026,125 I402T possibly damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mfsd4a T C 1: 132,028,499 H509R probably benign Het
Mthfd1l A G 10: 4,089,334 K782E probably damaging Het
Mvb12b G A 2: 33,827,788 R114W probably damaging Het
Myh4 A T 11: 67,258,982 K1818* probably null Het
Myo1h C T 5: 114,359,738 probably benign Het
Ncapd3 T A 9: 27,089,302 S1402T probably benign Het
Nutm2 A G 13: 50,469,480 N71S probably benign Het
Oas1c C A 5: 120,802,068 M344I probably benign Het
Olfr978 T A 9: 39,993,842 F11I probably benign Het
Phldb1 A G 9: 44,700,950 L1019P probably damaging Het
Plxnc1 T C 10: 94,882,591 E494G probably benign Het
Pole T C 5: 110,299,800 I734T probably benign Het
Ppp1r3b T C 8: 35,384,615 S203P probably benign Het
Pth2r G T 1: 65,346,839 M240I probably benign Het
Ptprr T A 10: 116,273,767 F394I probably damaging Het
Rabgef1 T C 5: 130,210,488 S265P possibly damaging Het
Rbpjl A G 2: 164,413,895 D353G possibly damaging Het
Rfc3 A G 5: 151,651,131 Y8H probably benign Het
Runx1t1 A T 4: 13,865,294 probably benign Het
Slc37a1 T A 17: 31,300,509 probably null Het
Slc38a10 T C 11: 120,134,888 probably benign Het
Slc38a6 T C 12: 73,350,568 V328A probably benign Het
Slf2 T C 19: 44,941,728 S415P probably benign Het
Spata17 C A 1: 187,140,434 R60L possibly damaging Het
Svil T A 18: 5,118,369 D2237E probably benign Het
Swap70 T A 7: 110,263,972 N169K probably benign Het
Tnfrsf11a A G 1: 105,827,718 D505G probably benign Het
Traf1 A G 2: 34,949,103 V70A probably benign Het
Traf3 T A 12: 111,243,465 V165E probably benign Het
Trpc5 T C X: 144,411,799 E570G probably damaging Het
Ubash3a A G 17: 31,241,305 N601S probably benign Het
Vmn2r30 C T 7: 7,334,244 C131Y possibly damaging Het
Vmn2r43 T C 7: 8,255,552 I221V probably benign Het
Vmn2r97 T A 17: 18,930,334 V481E possibly damaging Het
Wisp3 T C 10: 39,154,993 N178S probably benign Het
Other mutations in Rph3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02281:Rph3a APN 5 120948833 missense probably damaging 1.00
IGL02383:Rph3a APN 5 120963939 missense probably damaging 1.00
IGL02394:Rph3a APN 5 120946348 splice site probably null
IGL02825:Rph3a APN 5 120945446 missense possibly damaging 0.94
R0282:Rph3a UTSW 5 120963910 nonsense probably null
R0325:Rph3a UTSW 5 120943064 missense probably benign 0.22
R0402:Rph3a UTSW 5 120942254 missense probably damaging 0.99
R0648:Rph3a UTSW 5 120959270 missense possibly damaging 0.77
R1807:Rph3a UTSW 5 120945393 missense probably damaging 0.99
R2273:Rph3a UTSW 5 120973304 missense probably damaging 0.98
R2519:Rph3a UTSW 5 120954422 missense probably damaging 1.00
R2865:Rph3a UTSW 5 120947927 missense probably damaging 1.00
R2939:Rph3a UTSW 5 120980149 splice site probably benign
R3153:Rph3a UTSW 5 120973377 missense probably damaging 1.00
R4289:Rph3a UTSW 5 120973305 missense probably damaging 1.00
R4775:Rph3a UTSW 5 120954488 missense probably benign 0.00
R4949:Rph3a UTSW 5 120963834 missense probably damaging 1.00
R4997:Rph3a UTSW 5 120963843 missense probably damaging 0.96
R5008:Rph3a UTSW 5 120945391 missense probably damaging 1.00
R5027:Rph3a UTSW 5 120954449 missense possibly damaging 0.90
R5155:Rph3a UTSW 5 120948770 missense possibly damaging 0.94
R5497:Rph3a UTSW 5 120942190 missense probably benign 0.28
R5931:Rph3a UTSW 5 120963873 missense probably damaging 0.99
R6273:Rph3a UTSW 5 120945422 missense possibly damaging 0.91
Posted On2015-04-16