Incidental Mutation 'R9148:Rph3a'
ID 694786
Institutional Source Beutler Lab
Gene Symbol Rph3a
Ensembl Gene ENSMUSG00000029608
Gene Name rabphilin 3A
Synonyms Doc2 family, 2900002P20Rik
MMRRC Submission 068937-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9148 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 121078562-121148155 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121086880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 440 (N440S)
Ref Sequence ENSEMBL: ENSMUSP00000078198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079204] [ENSMUST00000202326] [ENSMUST00000202406]
AlphaFold P47708
PDB Structure Structural determinants for Ca2+ and PIP2 binding by the C2A domain of rabphilin-3A [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000079204
AA Change: N440S

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078198
Gene: ENSMUSG00000029608
AA Change: N440S

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 possibly damaging
Transcript: ENSMUST00000202326
AA Change: N440S

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144291
Gene: ENSMUSG00000029608
AA Change: N440S

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 possibly damaging
Transcript: ENSMUST00000202406
AA Change: N440S

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143917
Gene: ENSMUSG00000029608
AA Change: N440S

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
Meta Mutation Damage Score 0.2681 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (94/98)
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T A 3: 68,777,345 (GRCm39) I102N probably damaging Het
2610008E11Rik A T 10: 78,903,406 (GRCm39) C303* probably null Het
A430033K04Rik T A 5: 138,644,547 (GRCm39) V144D possibly damaging Het
Adamts13 T A 2: 26,883,024 (GRCm39) M858K probably benign Het
Ankrd29 T C 18: 12,408,760 (GRCm39) probably benign Het
Arg1 A C 10: 24,796,655 (GRCm39) D57E probably benign Het
Bend4 G A 5: 67,557,415 (GRCm39) T467M probably damaging Het
C1s1 T C 6: 124,517,758 (GRCm39) D74G probably damaging Het
Cacnb2 G A 2: 14,972,773 (GRCm39) G227S possibly damaging Het
Cbs T C 17: 31,844,889 (GRCm39) D137G probably damaging Het
Ccdc136 A G 6: 29,418,070 (GRCm39) E846G probably damaging Het
Cd6 A T 19: 10,776,855 (GRCm39) S57T probably benign Het
Cep20 G A 16: 14,135,222 (GRCm39) probably benign Het
Col11a2 T A 17: 34,273,119 (GRCm39) probably benign Het
Col7a1 T C 9: 108,789,274 (GRCm39) S829P unknown Het
Ctsj T C 13: 61,149,249 (GRCm39) Y264C probably damaging Het
Dennd3 T A 15: 73,429,463 (GRCm39) N915K probably damaging Het
E2f2 A T 4: 135,908,595 (GRCm39) probably null Het
Eme1 T C 11: 94,538,855 (GRCm39) T342A possibly damaging Het
Epc1 A T 18: 6,453,266 (GRCm39) probably benign Het
Fat1 T C 8: 45,405,682 (GRCm39) V811A possibly damaging Het
Fbxo2 A G 4: 148,250,166 (GRCm39) E232G probably damaging Het
Flnb G T 14: 7,817,996 (GRCm38) probably benign Het
Fmn1 A C 2: 113,271,973 (GRCm39) N114H unknown Het
Foxp2 A T 6: 15,286,711 (GRCm39) Q67L possibly damaging Het
Galntl5 A T 5: 25,415,353 (GRCm39) I295L possibly damaging Het
Gjd4 T A 18: 9,280,095 (GRCm39) T328S probably benign Het
Hint2 A G 4: 43,654,952 (GRCm39) I59T probably damaging Het
Hpn C T 7: 30,802,043 (GRCm39) R252Q probably benign Het
Hspa12a T G 19: 58,793,890 (GRCm39) T324P probably damaging Het
Ighv4-1 A T 12: 113,912,000 (GRCm39) D84E possibly damaging Het
Il1r2 T A 1: 40,151,258 (GRCm39) I171N probably damaging Het
Il31ra C T 13: 112,670,276 (GRCm39) E371K probably benign Het
Klhl24 C T 16: 19,936,690 (GRCm39) R433C probably damaging Het
Klra5 C T 6: 129,886,911 (GRCm39) C39Y probably benign Het
Lypd8l T A 11: 58,499,338 (GRCm39) D160V probably benign Het
Macc1 T C 12: 119,414,091 (GRCm39) S756P possibly damaging Het
Mael A G 1: 166,029,259 (GRCm39) V388A probably benign Het
Mast3 A G 8: 71,233,091 (GRCm39) S1074P probably damaging Het
Med13 A G 11: 86,192,297 (GRCm39) C823R probably benign Het
Megf6 A G 4: 154,339,130 (GRCm39) T556A probably benign Het
Mlip A G 9: 77,045,694 (GRCm39) F14L possibly damaging Het
Moxd2 C A 6: 40,860,978 (GRCm39) C271F probably damaging Het
Myo1e A T 9: 70,283,830 (GRCm39) D842V probably damaging Het
Ndst4 C T 3: 125,231,722 (GRCm39) A97V probably damaging Het
Nherf4 A G 9: 44,160,676 (GRCm39) C240R probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Nptx2 A G 5: 144,492,980 (GRCm39) T356A probably benign Het
Nup160 A G 2: 90,533,489 (GRCm39) D646G probably damaging Het
Nup98 C A 7: 101,788,037 (GRCm39) R1011L probably benign Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or1j19 A G 2: 36,676,938 (GRCm39) T134A probably benign Het
Or1p1 A C 11: 74,180,169 (GRCm39) Q232H probably damaging Het
Or5c1 T C 2: 37,222,017 (GRCm39) L86P possibly damaging Het
Or7h8 T A 9: 20,124,358 (GRCm39) F238I probably damaging Het
Or8k24 A G 2: 86,216,324 (GRCm39) V146A probably benign Het
Osbp2 A G 11: 3,665,143 (GRCm39) L67P probably damaging Het
Pabpc6 C T 17: 9,886,937 (GRCm39) S538N probably benign Het
Pcdhga1 C A 18: 37,796,433 (GRCm39) A479D possibly damaging Het
Pdgfd A T 9: 6,333,328 (GRCm39) D172V probably benign Het
Pfpl A T 19: 12,405,804 (GRCm39) E18D possibly damaging Het
Plat A G 8: 23,268,466 (GRCm39) T373A probably damaging Het
Plekhg1 G A 10: 3,907,527 (GRCm39) D870N Het
Ppp1r13b T C 12: 111,800,268 (GRCm39) H626R probably benign Het
Ppp6r3 A T 19: 3,543,974 (GRCm39) V347D probably damaging Het
Prr12 G T 7: 44,697,242 (GRCm39) P891H unknown Het
Psg22 T A 7: 18,460,682 (GRCm39) I437K probably benign Het
Ptpra T A 2: 30,328,255 (GRCm39) M192K probably damaging Het
Ptpra G T 2: 30,328,256 (GRCm39) M192I probably benign Het
Ptprj G A 2: 90,288,562 (GRCm39) S801L probably benign Het
Relb T C 7: 19,350,276 (GRCm39) Y228C probably damaging Het
Rfx3 A T 19: 27,878,207 (GRCm39) V30E possibly damaging Het
Rgs2 A G 1: 143,877,925 (GRCm39) S124P probably damaging Het
Ryr2 T C 13: 11,900,424 (GRCm39) T104A probably benign Het
Scn7a T C 2: 66,514,507 (GRCm39) D1089G possibly damaging Het
Sebox A G 11: 78,395,222 (GRCm39) D188G possibly damaging Het
Serpinf2 A T 11: 75,323,418 (GRCm39) F429L probably damaging Het
Six4 A C 12: 73,155,681 (GRCm39) S429A probably benign Het
Slc2a10 A T 2: 165,357,543 (GRCm39) H401L possibly damaging Het
Spag16 G C 1: 70,420,459 (GRCm39) L482F probably damaging Het
Ssbp2 T C 13: 91,842,141 (GRCm39) S321P probably damaging Het
Syne2 A G 12: 75,937,158 (GRCm39) E252G probably damaging Het
Synj2 T C 17: 6,084,172 (GRCm39) I1178T probably damaging Het
Tafa5 T C 15: 87,428,775 (GRCm39) I28T probably benign Het
Tmem132b C A 5: 125,864,167 (GRCm39) Q758K probably damaging Het
Tril A G 6: 53,795,137 (GRCm39) L695P probably damaging Het
Ubap1l T C 9: 65,276,603 (GRCm39) L35P probably damaging Het
Vmn1r225 T A 17: 20,722,577 (GRCm39) M6K possibly damaging Het
Vmn1r229 T C 17: 21,034,758 (GRCm39) M1T probably null Het
Vmn2r80 A T 10: 79,030,687 (GRCm39) I838F probably damaging Het
Vmn2r98 T A 17: 19,286,383 (GRCm39) W294R probably benign Het
Wnk1 A G 6: 119,925,631 (GRCm39) S1527P unknown Het
Wnt11 G A 7: 98,488,241 (GRCm39) probably benign Het
Zdhhc17 A T 10: 110,785,503 (GRCm39) S436R possibly damaging Het
Zfp12 T C 5: 143,230,389 (GRCm39) S271P probably 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
R2939:Rph3a UTSW 5 121,118,212 (GRCm39) splice site probably benign
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
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'- CCATGTGCACCTAGATACAGAAG -3'
(R):5'- TCAGAACACACGGCATTTCTG -3'

Sequencing Primer
(F):5'- GAAGGCCCCCTGCATTTACAG -3'
(R):5'- GCATTTCTGCTATAAACCATGTCTG -3'
Posted On 2022-01-20