Mutagenetix > Incidental Mutations

Incidental Mutation 'R3153:Rph3a'

264459

Institutional Source

Beutler Lab

Gene Symbol

Rph3a

Ensembl Gene

ENSMUSG00000029608

Gene Name

rabphilin 3A

Synonyms

2900002P20Rik, Doc2 family

MMRRC Submission

040604-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3153 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120940499-121010092 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120973377 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 47 (T47A)

Ref Sequence

ENSEMBL: ENSMUSP00000144437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079204] [ENSMUST00000200792] [ENSMUST00000202326] [ENSMUST00000202406]

Predicted Effect

probably damaging
Transcript: ENSMUST00000079204
AA Change: T47A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078198
Gene: ENSMUSG00000029608
AA Change: T47A

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 damaging
Transcript: ENSMUST00000200792
AA Change: T47A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201506

Predicted Effect

probably damaging
Transcript: ENSMUST00000202326
AA Change: T47A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144291
Gene: ENSMUSG00000029608
AA Change: T47A

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 damaging
Transcript: ENSMUST00000202406
AA Change: T47A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143917
Gene: ENSMUSG00000029608
AA Change: T47A

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: 99.1%
3x: 98.5%
10x: 97.1%
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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	C	2: 152,440,824	N200H	probably damaging	Het
Abca17	T	A	17: 24,328,746	D218V	probably damaging	Het
Abhd12	A	G	2: 150,834,355	F361L	probably benign	Het
Abr	A	T	11: 76,486,469	I59N	probably damaging	Het
Agbl1	A	G	7: 76,720,196	E681G	probably damaging	Het
B3gnt4	G	T	5: 123,510,653	R27L	probably benign	Het
Cct8l1	A	C	5: 25,517,139	E284A	probably damaging	Het
Chd7	T	A	4: 8,855,174	N2134K	probably benign	Het
Chrna3	C	T	9: 55,016,050	C158Y	probably damaging	Het
Cndp2	C	A	18: 84,668,597	M433I	probably benign	Het
Cnnm3	T	A	1: 36,521,222	S608T	probably damaging	Het
Cnot1	T	C	8: 95,744,278	E1314G	possibly damaging	Het
Col20a1	C	T	2: 181,008,593	P1074L	probably damaging	Het
Coq6	G	A	12: 84,371,535	V298M	probably damaging	Het
Cpt1a	A	G	19: 3,356,430	Y132C	probably damaging	Het
Dcdc2a	A	C	13: 25,102,357	I125L	probably benign	Het
Eps8l1	A	T	7: 4,471,799	I321F	probably damaging	Het
Fancd2	A	G	6: 113,593,269	S1394G	possibly damaging	Het
Fcrl5	T	C	3: 87,443,680	F166L	probably benign	Het
Gatc	T	C	5: 115,335,487	E131G	probably benign	Het
Gpld1	T	C	13: 24,943,620	S2P	unknown	Het
Gprc5b	G	A	7: 118,976,547	P385L	probably damaging	Het
Gsc2	G	A	16: 17,914,500	R137W	probably damaging	Het
Hsd3b1	T	C	3: 98,852,664	D337G	probably damaging	Het
Ireb2	T	C	9: 54,885,946		probably null	Het
Kank1	T	A	19: 25,410,688	V575E	possibly damaging	Het
Kcnmb1	A	T	11: 33,966,339	D95V	probably damaging	Het
L3mbtl4	T	A	17: 68,457,248	Y125*	probably null	Het
Lce1h	C	T	3: 92,763,675	G57R	unknown	Het
Lgalsl	A	G	11: 20,826,487	F135S	probably damaging	Het
Lrba	A	G	3: 86,285,219	M147V	probably damaging	Het
Mdm2	T	C	10: 117,709,713	E23G	possibly damaging	Het
Mthfd1	C	A	12: 76,311,963	Q67K	probably benign	Het
Mtus2	T	C	5: 148,083,060	L755P	probably damaging	Het
Olfr1026	T	C	2: 85,923,730	V154A	probably benign	Het
Orc3	A	G	4: 34,575,124	F587L	probably damaging	Het
Pcdhb7	C	T	18: 37,343,073	P421S	probably damaging	Het
Pgk2	T	A	17: 40,208,243	D98V	probably damaging	Het
Pkd1l1	A	C	11: 8,867,207	S1364A	probably benign	Het
Rin3	A	C	12: 102,368,541	E157A	unknown	Het
Rnf126	A	T	10: 79,761,631	I149N	probably damaging	Het
Sap18	T	C	14: 57,801,945	M68T	probably benign	Het
Sfrp2	A	G	3: 83,773,270	T246A	probably benign	Het
Slc18a3	A	G	14: 32,463,271	V385A	probably benign	Het
Slitrk3	C	T	3: 73,048,982	W819*	probably null	Het
Smap1	A	T	1: 23,853,549	D111E	probably damaging	Het
Spesp1	G	A	9: 62,282,094		probably benign	Het
Styk1	A	T	6: 131,310,012	Y84*	probably null	Het
Sv2a	T	A	3: 96,185,258	D91E	possibly damaging	Het
Tbc1d5	A	G	17: 50,968,236	I77T	probably damaging	Het
Trim10	T	A	17: 36,871,688	C149S	probably damaging	Het
Zbtb38	T	C	9: 96,688,249	K261E	probably benign	Het
Zfp202	T	C	9: 40,208,438	L179P	probably benign	Het
Zkscan5	T	A	5: 145,212,627	S251R	probably benign	Het

Other mutations in Rph3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02429:Rph3a	APN	5	120980124	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
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
R7630:Rph3a	UTSW	5	120943050	missense	probably damaging	1.00
R7664:Rph3a	UTSW	5	120961276	missense	probably benign
R8210:Rph3a	UTSW	5	120961249	missense	probably benign	0.00
R8294:Rph3a	UTSW	5	120961366	missense	probably damaging	1.00
R8445:Rph3a	UTSW	5	120973370	missense	probably damaging	1.00
RF017:Rph3a	UTSW	5	120962499	splice site	probably null
Z1177:Rph3a	UTSW	5	120942266	nonsense	probably null
Z1177:Rph3a	UTSW	5	120961275	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AGGAGGCACAGTATTGCTTTG -3'
(R):5'- ACGTCATTCTACCCAGAGTCTC -3'

Sequencing Primer
(F):5'- GGCACAGTATTGCTTTGATACATAC -3'
(R):5'- CAGAGTCTCTGGGTCAGTGAG -3'

Posted On

2015-02-05