Mutagenetix > Incidental Mutation

Incidental Mutation 'R9733:Rph3a'

731540

Institutional Source

Beutler Lab

Gene Symbol

Rph3a

Ensembl Gene

ENSMUSG00000029608

Gene Name

rabphilin 3A

Synonyms

Doc2 family, 2900002P20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9733 (G1)

Quality Score

220.009

Status

Not validated

Chromosome

Chromosomal Location

121078562-121148155 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121100521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 126 (T126S)

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

probably benign
Transcript: ENSMUST00000079204
AA Change: T126S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000078198
Gene: ENSMUSG00000029608
AA Change: T126S

Domain	Start	End	E-Value	Type
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: ENSMUST00000202326
AA Change: T126S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000144291
Gene: ENSMUSG00000029608
AA Change: T126S

Domain	Start	End	E-Value	Type
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
AA Change: T126S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000143917
Gene: ENSMUSG00000029608
AA Change: T126S

Domain	Start	End	E-Value	Type
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: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	C	T	14: 15,712,825 (GRCm39)		probably benign	Het
4930595D18Rik	T	A	12: 111,128,254 (GRCm39)		probably benign	Het
Adam34l	T	C	8: 44,079,186 (GRCm39)	N346S	possibly damaging	Het
Alpi	C	T	1: 87,028,516 (GRCm39)	A125T	probably benign	Het
Alppl2	T	A	1: 87,014,957 (GRCm39)	H468L	probably damaging	Het
Arhgef12	A	T	9: 42,901,294 (GRCm39)	L836*	probably null	Het
Arv1	T	C	8: 125,458,658 (GRCm39)	Y261H	probably damaging	Het
Atf6	C	T	1: 170,662,402 (GRCm39)	S286N	probably benign	Het
Atl3	G	A	19: 7,509,705 (GRCm39)	G478R	probably damaging	Het
Avil	C	T	10: 126,843,711 (GRCm39)	R184C	probably damaging	Het
Bcl6b	A	G	11: 70,119,323 (GRCm39)	I131T	probably damaging	Het
Bltp1	T	A	3: 37,102,732 (GRCm39)	M1437K		Het
Catsper3	T	C	13: 55,946,752 (GRCm39)	S150P	probably damaging	Het
Cd7	A	G	11: 120,928,637 (GRCm39)	S132P	probably benign	Het
Cfh	T	C	1: 140,016,533 (GRCm39)	D1142G	probably damaging	Het
Clca4b	T	G	3: 144,621,272 (GRCm39)	K601Q	probably benign	Het
Cp	A	G	3: 20,033,126 (GRCm39)	H651R	probably damaging	Het
Cyp2s1	T	A	7: 25,507,529 (GRCm39)	T307S	probably damaging	Het
Dcaf11	A	G	14: 55,803,170 (GRCm39)	D328G	probably damaging	Het
Eapp	A	T	12: 54,739,741 (GRCm39)	S25R	probably damaging	Het
Ebag9	T	A	15: 44,491,033 (GRCm39)		probably null	Het
Exog	G	A	9: 119,291,586 (GRCm39)	E288K	possibly damaging	Het
Fads2	A	T	19: 10,047,940 (GRCm39)	Y265N	probably damaging	Het
Fam234b	T	A	6: 135,194,008 (GRCm39)	S220R	possibly damaging	Het
Fcgbp	T	A	7: 27,803,012 (GRCm39)	C1539S	probably damaging	Het
Fcsk	T	C	8: 111,615,563 (GRCm39)	T589A	probably benign	Het
Fv1	C	T	4: 147,954,621 (GRCm39)	R396W	probably damaging	Het
Fv1	T	C	4: 147,954,654 (GRCm39)	F407L	probably benign	Het
Glp2r	T	C	11: 67,648,367 (GRCm39)	T112A	probably benign	Het
Hydin	T	C	8: 111,262,011 (GRCm39)	I2704T	probably benign	Het
Ighm	T	A	12: 113,386,097 (GRCm39)	E84D	probably benign	Het
Ikzf5	A	G	7: 130,994,012 (GRCm39)	V205A	probably benign	Het
Kcnt1	G	T	2: 25,797,351 (GRCm39)	V844L	probably benign	Het
Kif2a	A	C	13: 107,106,304 (GRCm39)	S528R	probably damaging	Het
Klhl29	G	A	12: 5,190,641 (GRCm39)	T118M	probably damaging	Het
Krt4	C	A	15: 101,827,564 (GRCm39)	G492C	unknown	Het
Lama1	T	A	17: 68,116,940 (GRCm39)	I2441N		Het
Lin7a	T	C	10: 107,247,905 (GRCm39)	V192A	possibly damaging	Het
Marchf8	T	A	6: 116,378,990 (GRCm39)	V308D	probably damaging	Het
Mgat5b	T	C	11: 116,838,074 (GRCm39)	S238P	possibly damaging	Het
Mrps25	A	G	6: 92,155,715 (GRCm39)	S73P	probably damaging	Het
Muc6	G	T	7: 141,216,310 (GRCm39)	P2788T	unknown	Het
Ncf1	T	C	5: 134,250,899 (GRCm39)	T347A	probably benign	Het
Ndufaf4	T	C	4: 24,903,177 (GRCm39)	M122T	probably benign	Het
Nfil3	C	T	13: 53,121,591 (GRCm39)	A438T	probably damaging	Het
Noc2l	T	G	4: 156,328,022 (GRCm39)	I504S	probably damaging	Het
Nphs1	T	C	7: 30,166,955 (GRCm39)	C735R	probably damaging	Het
Or10g6	A	T	9: 39,934,171 (GRCm39)	S161C	probably benign	Het
Or2y10	T	C	11: 49,454,961 (GRCm39)	L71P	probably damaging	Het
Or5d38	C	A	2: 87,955,000 (GRCm39)	V110L	probably damaging	Het
Or6b9	A	C	7: 106,555,846 (GRCm39)	L99R	possibly damaging	Het
Pcdhac1	A	G	18: 37,225,506 (GRCm39)	H773R	probably benign	Het
Pcnt	A	G	10: 76,237,314 (GRCm39)	V1324A	probably benign	Het
Pcsk4	T	C	10: 80,158,034 (GRCm39)	Y568C	probably damaging	Het
Pdlim1	A	T	19: 40,219,040 (GRCm39)	M197K	probably damaging	Het
Plekho1	C	T	3: 95,903,091 (GRCm39)	G7S	probably benign	Het
Pramel17	A	G	4: 101,692,965 (GRCm39)	V345A	possibly damaging	Het
Prl7d1	A	C	13: 27,898,339 (GRCm39)	S57A	probably benign	Het
Prpf3	A	G	3: 95,741,512 (GRCm39)	V548A	possibly damaging	Het
Prss56	C	T	1: 87,111,219 (GRCm39)	P2L	possibly damaging	Het
Ric1	A	G	19: 29,580,030 (GRCm39)	D1277G	possibly damaging	Het
Rnf19b	T	A	4: 128,977,812 (GRCm39)	D676E	probably damaging	Het
Sh3gl3	T	C	7: 81,917,562 (GRCm39)		probably null	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc35f2	T	C	9: 53,708,385 (GRCm39)	V126A	probably benign	Het
Snrnp200	A	T	2: 127,068,240 (GRCm39)	Q860L	probably damaging	Het
Srbd1	T	C	17: 86,422,711 (GRCm39)	N435S	probably damaging	Het
Tab2	A	G	10: 7,795,214 (GRCm39)	S349P	possibly damaging	Het
Tie1	A	T	4: 118,330,183 (GRCm39)	W1040R	probably null	Het
Tnni3k	A	T	3: 154,562,244 (GRCm39)	Y678N	probably damaging	Het
Trav12-3	T	C	14: 53,859,474 (GRCm39)	V40A	possibly damaging	Het
Ttn	G	A	2: 76,576,379 (GRCm39)	S24838L	probably damaging	Het
Ttn	A	G	2: 76,725,660 (GRCm39)	W6158R	unknown	Het
Vegfa	T	C	17: 46,335,401 (GRCm39)	S298G	probably damaging	Het
Zer1	T	C	2: 29,997,643 (GRCm39)	K421R	probably benign	Het
Zfp959	C	A	17: 56,204,866 (GRCm39)	T301N	probably benign	Het

Other mutations in Rph3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TGAGCCAGTTCCATTCCCAC -3'
(R):5'- ATCCAGCTCTTGCCATTGAC -3'

Sequencing Primer
(F):5'- GCCAGTTCCATTCCCACCAAAC -3'
(R):5'- TAACGAGCCTTGCCCGAGTTAAG -3'

Posted On

2022-11-14