Incidental Mutation 'R2939:Rph3a'
ID 264565
Institutional Source Beutler Lab
Gene Symbol Rph3a
Ensembl Gene ENSMUSG00000029608
Gene Name rabphilin 3A
Synonyms Doc2 family, 2900002P20Rik
MMRRC Submission 040516-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2939 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 121078562-121148155 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 121118212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079204] [ENSMUST00000200792] [ENSMUST00000202326] [ENSMUST00000202406]
AlphaFold P47708
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000200792
Predicted Effect probably benign
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 benign
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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 98% (62/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,808,409 (GRCm39) Y911H possibly damaging Het
Arhgef26 A C 3: 62,288,331 (GRCm39) K467T possibly damaging Het
Armcx6 A T X: 133,650,625 (GRCm39) W69R probably damaging Het
Asl T C 5: 130,042,245 (GRCm39) Y277C probably damaging Het
Atm T C 9: 53,406,011 (GRCm39) Y1219C probably damaging Het
Azin2 C T 4: 128,828,397 (GRCm39) C270Y probably benign Het
Brsk1 A T 7: 4,711,139 (GRCm39) I545F possibly damaging Het
Carm1 C A 9: 21,490,692 (GRCm39) probably null Het
Cfap410 A G 10: 77,817,507 (GRCm39) N78S probably benign Het
Cfap69 G A 5: 5,694,432 (GRCm39) A143V probably damaging Het
Cldn14 T C 16: 93,716,192 (GRCm39) K218R probably damaging Het
Col5a3 T C 9: 20,706,954 (GRCm39) K714R unknown Het
Crybg2 A G 4: 133,809,745 (GRCm39) H1517R possibly damaging Het
Dagla A C 19: 10,233,728 (GRCm39) F382C probably damaging Het
Dixdc1 G A 9: 50,622,259 (GRCm39) A25V probably damaging Het
Dock6 A G 9: 21,750,496 (GRCm39) F473L possibly damaging Het
Eif5 T C 12: 111,506,713 (GRCm39) C102R probably damaging Het
Faiml A G 9: 99,114,527 (GRCm39) C121R probably damaging Het
Fhdc1 A G 3: 84,364,577 (GRCm39) V223A possibly damaging Het
Garin4 T C 1: 190,896,103 (GRCm39) D180G possibly damaging Het
Gpatch8 A G 11: 102,399,010 (GRCm39) V74A unknown Het
Haghl A G 17: 26,004,060 (GRCm39) V8A possibly damaging Het
Ksr1 A G 11: 78,936,007 (GRCm39) probably null Het
Lama5 A C 2: 179,840,747 (GRCm39) Y584D probably damaging Het
Lgi4 C T 7: 30,767,253 (GRCm39) R427* probably null Het
Lrriq1 T A 10: 102,980,750 (GRCm39) S1462C probably damaging Het
Map3k4 C T 17: 12,480,157 (GRCm39) E682K probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nherf1 C T 11: 115,071,270 (GRCm39) R335C probably damaging Het
Nmnat2 C A 1: 152,950,474 (GRCm39) S53Y probably damaging Het
Or8b12i C A 9: 20,082,061 (GRCm39) G269W probably benign Het
Or8g34 G A 9: 39,373,226 (GRCm39) M166I probably benign Het
Pcsk7 C T 9: 45,827,322 (GRCm39) A363V probably damaging Het
Pdrg1 C T 2: 152,854,355 (GRCm39) G62R probably damaging Het
Pdzd7 A G 19: 45,033,862 (GRCm39) I74T possibly damaging Het
Plcb4 T C 2: 135,781,123 (GRCm39) probably benign Het
Pramel28 A G 4: 143,693,247 (GRCm39) V77A probably benign Het
Rnf25 A G 1: 74,635,047 (GRCm39) V135A possibly damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Senp6 G A 9: 80,051,124 (GRCm39) A1134T probably benign Het
Slc1a6 G T 10: 78,650,448 (GRCm39) *562L probably null Het
Slc26a6 G A 9: 108,734,236 (GRCm39) V206I probably benign Het
Slc45a3 A G 1: 131,905,637 (GRCm39) E206G probably damaging Het
Smc1a T A X: 150,816,695 (GRCm39) Y516N probably damaging Het
Smpd3 A G 8: 106,984,039 (GRCm39) V560A probably benign Het
Spata31g1 A G 4: 42,972,946 (GRCm39) K760E probably benign Het
Ssc4d T C 5: 135,994,578 (GRCm39) T51A possibly damaging Het
Suco A G 1: 161,676,220 (GRCm39) I386T probably damaging Het
Tecta A T 9: 42,289,290 (GRCm39) M425K possibly damaging Het
Tmprss11e G A 5: 86,869,266 (GRCm39) R96W probably damaging Het
Trim63 T C 4: 134,050,308 (GRCm39) probably benign Het
Trpv1 A G 11: 73,145,675 (GRCm39) K403R probably damaging Het
Ttc39d A G 17: 80,524,982 (GRCm39) Y547C probably damaging Het
Unc79 C T 12: 102,957,684 (GRCm39) T33I probably damaging Het
Usp47 G A 7: 111,681,743 (GRCm39) S518N probably damaging Het
Vmn2r22 T A 6: 123,614,594 (GRCm39) D332V probably damaging Het
Vmn2r55 A G 7: 12,385,832 (GRCm39) L716P probably damaging Het
Zfp558 T C 9: 18,367,924 (GRCm39) N288S possibly damaging Het
Other mutations in Rph3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02281:Rph3a APN 5 121,086,896 (GRCm39) missense probably damaging 1.00
IGL02383:Rph3a APN 5 121,102,002 (GRCm39) missense probably damaging 1.00
IGL02394:Rph3a APN 5 121,084,411 (GRCm39) splice site probably null
IGL02429:Rph3a APN 5 121,118,187 (GRCm39) splice site probably null
IGL02825:Rph3a APN 5 121,083,509 (GRCm39) missense possibly damaging 0.94
R0282:Rph3a UTSW 5 121,101,973 (GRCm39) nonsense probably null
R0325:Rph3a UTSW 5 121,081,127 (GRCm39) missense probably benign 0.22
R0402:Rph3a UTSW 5 121,080,317 (GRCm39) missense probably damaging 0.99
R0648:Rph3a UTSW 5 121,097,333 (GRCm39) missense possibly damaging 0.77
R1807:Rph3a UTSW 5 121,083,456 (GRCm39) missense probably damaging 0.99
R2273:Rph3a UTSW 5 121,111,367 (GRCm39) missense probably damaging 0.98
R2519:Rph3a UTSW 5 121,092,485 (GRCm39) missense probably damaging 1.00
R2865:Rph3a UTSW 5 121,085,990 (GRCm39) missense probably damaging 1.00
R3153:Rph3a UTSW 5 121,111,440 (GRCm39) missense probably damaging 1.00
R4289:Rph3a UTSW 5 121,111,368 (GRCm39) missense probably damaging 1.00
R4775:Rph3a UTSW 5 121,092,551 (GRCm39) missense probably benign 0.00
R4949:Rph3a UTSW 5 121,101,897 (GRCm39) missense probably damaging 1.00
R4997:Rph3a UTSW 5 121,101,906 (GRCm39) missense probably damaging 0.96
R5008:Rph3a UTSW 5 121,083,454 (GRCm39) missense probably damaging 1.00
R5027:Rph3a UTSW 5 121,092,512 (GRCm39) missense possibly damaging 0.90
R5155:Rph3a UTSW 5 121,086,833 (GRCm39) missense possibly damaging 0.94
R5497:Rph3a UTSW 5 121,080,253 (GRCm39) missense probably benign 0.28
R5931:Rph3a UTSW 5 121,101,936 (GRCm39) missense probably damaging 0.99
R6273:Rph3a UTSW 5 121,083,485 (GRCm39) missense possibly damaging 0.91
R7630:Rph3a UTSW 5 121,081,113 (GRCm39) missense probably damaging 1.00
R7664:Rph3a UTSW 5 121,099,339 (GRCm39) missense probably benign
R8210:Rph3a UTSW 5 121,099,312 (GRCm39) missense probably benign 0.00
R8294:Rph3a UTSW 5 121,099,429 (GRCm39) missense probably damaging 1.00
R8445:Rph3a UTSW 5 121,111,433 (GRCm39) missense probably damaging 1.00
R8693:Rph3a UTSW 5 121,100,501 (GRCm39) missense probably damaging 0.99
R8758:Rph3a UTSW 5 121,097,365 (GRCm39) missense probably benign
R9147:Rph3a UTSW 5 121,086,880 (GRCm39) missense possibly damaging 0.87
R9148:Rph3a UTSW 5 121,086,880 (GRCm39) missense possibly damaging 0.87
R9157:Rph3a UTSW 5 121,101,892 (GRCm39) missense probably damaging 1.00
R9212:Rph3a UTSW 5 121,086,005 (GRCm39) missense possibly damaging 0.84
R9520:Rph3a UTSW 5 121,101,903 (GRCm39) missense probably damaging 1.00
R9733:Rph3a UTSW 5 121,100,521 (GRCm39) missense probably benign 0.08
RF017:Rph3a UTSW 5 121,100,562 (GRCm39) splice site probably null
Z1177:Rph3a UTSW 5 121,099,338 (GRCm39) missense probably benign 0.06
Z1177:Rph3a UTSW 5 121,080,329 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTGCCTCAGAAGCACATCC -3'
(R):5'- CTGAACGATGTGGGTGTGAC -3'

Sequencing Primer
(F):5'- AGAAGCACATCCCATCTTCTTC -3'
(R):5'- ATATGCATGTATGAGTGGAGTACCC -3'
Posted On 2015-02-05