Mutagenetix > Incidental Mutation

Incidental Mutation 'R5155:Rph3a'

396649

Institutional Source

Beutler Lab

Gene Symbol

Rph3a

Ensembl Gene

ENSMUSG00000029608

Gene Name

rabphilin 3A

Synonyms

Doc2 family, 2900002P20Rik

MMRRC Submission

042737-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5155 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121078562-121148155 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121086833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 456 (T456A)

Ref Sequence

ENSEMBL: ENSMUSP00000143917 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079204] [ENSMUST00000202326] [ENSMUST00000202406]

AlphaFold

P47708

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079204
AA Change: T456A

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078198
Gene: ENSMUSG00000029608
AA Change: T456A

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

possibly damaging
Transcript: ENSMUST00000202326
AA Change: T456A

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144291
Gene: ENSMUSG00000029608
AA Change: T456A

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

possibly damaging
Transcript: ENSMUST00000202406
AA Change: T456A

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143917
Gene: ENSMUSG00000029608
AA Change: T456A

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: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,482,447 (GRCm39)	V4326A	probably damaging	Het
Actn4	A	G	7: 28,661,442 (GRCm39)		probably null	Het
Adamts8	A	G	9: 30,865,844 (GRCm39)	D464G	probably benign	Het
Adss1	T	C	12: 112,604,642 (GRCm39)	I366T	probably damaging	Het
Alox12e	T	C	11: 70,207,081 (GRCm39)	D575G	possibly damaging	Het
Ankrd44	A	T	1: 54,817,489 (GRCm39)	M73K	probably benign	Het
Ap4e1	A	G	2: 126,905,289 (GRCm39)	T987A	probably benign	Het
Banp	A	C	8: 122,727,759 (GRCm39)	S318R	probably damaging	Het
Bcas1	T	C	2: 170,260,538 (GRCm39)	H47R	probably damaging	Het
Brwd1	G	T	16: 95,803,993 (GRCm39)	S2524*	probably null	Het
Btbd8	T	C	5: 107,638,569 (GRCm39)	I323T	probably damaging	Het
Cand2	T	A	6: 115,769,219 (GRCm39)	D676E	probably benign	Het
Cc2d1a	A	T	8: 84,867,755 (GRCm39)	H224Q	probably benign	Het
Ccdc138	A	T	10: 58,343,394 (GRCm39)	Y83F	probably benign	Het
Ccdc162	A	T	10: 41,429,576 (GRCm39)		probably null	Het
Ccdc162	A	C	10: 41,455,147 (GRCm39)	S396A	probably damaging	Het
Ces1e	A	T	8: 93,928,034 (GRCm39)	*562R	probably null	Het
Clstn2	T	A	9: 97,338,484 (GRCm39)	M892L	probably benign	Het
Crybg3	T	C	16: 59,345,264 (GRCm39)	T2673A	possibly damaging	Het
Cstf3	A	G	2: 104,482,830 (GRCm39)	N326S	probably benign	Het
Cux1	G	A	5: 136,594,295 (GRCm39)		probably benign	Het
Cyb5r4	T	G	9: 86,922,456 (GRCm39)	M155R	probably benign	Het
D130043K22Rik	A	G	13: 25,056,273 (GRCm39)	D535G	probably damaging	Het
Dnah2	G	A	11: 69,313,362 (GRCm39)	P4266S	probably damaging	Het
Dnah7a	T	A	1: 53,682,654 (GRCm39)	N272I	probably benign	Het
Dsg2	A	G	18: 20,731,715 (GRCm39)	Y779C	possibly damaging	Het
Eif4g3	T	A	4: 137,854,054 (GRCm39)	N507K	probably benign	Het
Elavl4	T	C	4: 110,149,833 (GRCm39)	Q3R	probably null	Het
Engase	T	G	11: 118,372,107 (GRCm39)	I133S	probably benign	Het
Ercc5	T	C	1: 44,219,782 (GRCm39)	V1018A	probably damaging	Het
Ext1	C	A	15: 52,939,213 (GRCm39)	W612L	probably damaging	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Fam8a1	G	A	13: 46,827,038 (GRCm39)	A270T	probably benign	Het
Fhdc1	T	G	3: 84,353,457 (GRCm39)	Q589H	probably benign	Het
Gatm	G	A	2: 122,440,334 (GRCm39)	T35I	probably benign	Het
Gcgr	T	C	11: 120,427,872 (GRCm39)	I271T	probably benign	Het
Gm527	T	A	12: 64,970,381 (GRCm39)	Y239N	probably damaging	Het
H2-Ab1	A	G	17: 34,486,358 (GRCm39)	H139R	possibly damaging	Het
Herc2	G	A	7: 55,877,574 (GRCm39)	R4547Q	possibly damaging	Het
Itga1	A	T	13: 115,171,839 (GRCm39)	S89T	probably benign	Het
Kash5	C	A	7: 44,839,078 (GRCm39)	E53*	probably null	Het
Katnip	A	G	7: 125,471,356 (GRCm39)	T1486A	probably damaging	Het
Lrba	A	G	3: 86,258,607 (GRCm39)	M1365V	probably benign	Het
Lrp1b	A	C	2: 41,618,634 (GRCm39)		probably null	Het
Map1a	G	A	2: 121,132,867 (GRCm39)	A990T	probably damaging	Het
Micall2	C	A	5: 139,695,986 (GRCm39)	L784F	probably damaging	Het
Mmp9	T	C	2: 164,790,986 (GRCm39)		probably null	Het
Mrps7	T	A	11: 115,495,655 (GRCm39)	Y64*	probably null	Het
Mslnl	C	T	17: 25,957,942 (GRCm39)	Q62*	probably null	Het
Nfil3	A	G	13: 53,122,616 (GRCm39)	L96P	probably damaging	Het
Or2f1	A	G	6: 42,721,748 (GRCm39)	Y259C	probably damaging	Het
Phf3	T	C	1: 30,863,457 (GRCm39)	D756G	possibly damaging	Het
Plxnd1	C	T	6: 115,935,949 (GRCm39)		probably null	Het
Prickle4	C	T	17: 48,000,982 (GRCm39)		probably null	Het
Prr9	T	A	3: 92,030,356 (GRCm39)	T95S	possibly damaging	Het
Prrc2a	A	G	17: 35,379,067 (GRCm39)		probably null	Het
Prrt3	A	G	6: 113,474,520 (GRCm39)		probably null	Het
Psme4	A	T	11: 30,826,806 (GRCm39)	Y1775F	probably damaging	Het
Pum2	T	C	12: 8,763,572 (GRCm39)	V243A	possibly damaging	Het
Rnf32	T	C	5: 29,408,145 (GRCm39)	S125P	probably damaging	Het
Rnf8	A	G	17: 29,845,604 (GRCm39)	Y65C	probably damaging	Het
Scaper	T	A	9: 55,463,370 (GRCm39)	Q854L	probably null	Het
Sez6l2	T	C	7: 126,561,545 (GRCm39)	S472P	probably damaging	Het
Spsb3	T	C	17: 25,105,969 (GRCm39)		probably benign	Het
Srebf2	A	G	15: 82,080,427 (GRCm39)	D40G	probably damaging	Het
Sspo	A	G	6: 48,437,408 (GRCm39)	N1389D	probably benign	Het
Taf4b	G	T	18: 14,963,152 (GRCm39)	A631S	probably benign	Het
Tcstv1b	T	C	13: 120,635,089 (GRCm39)	S124P	probably benign	Het
Tigd4	G	A	3: 84,501,970 (GRCm39)	V296M	possibly damaging	Het
Tsc22d2	T	A	3: 58,324,737 (GRCm39)		probably benign	Het
Uso1	T	A	5: 92,315,194 (GRCm39)		probably null	Het
Vmn2r6	T	G	3: 64,445,935 (GRCm39)	N597H	probably benign	Het
Zfc3h1	T	A	10: 115,248,026 (GRCm39)	S1076R	possibly damaging	Het
Zfp64	T	A	2: 168,748,885 (GRCm39)	Q44L	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
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'- GAGCATGTGCAGATGTCTGTC -3'
(R):5'- CACCGAAGCTTTCTCACTTAAGG -3'

Sequencing Primer
(F):5'- AGATGTCTGTCACGGCTGC -3'
(R):5'- TCTCACTTAAGGGGGAATGTTCAAG -3'

Posted On

2016-06-21