Mutagenetix > Incidental Mutation

Incidental Mutation 'R0402:Rph3a'

35609

Institutional Source

Beutler Lab

Gene Symbol

Rph3a

Ensembl Gene

ENSMUSG00000029608

Gene Name

rabphilin 3A

Synonyms

Doc2 family, 2900002P20Rik

MMRRC Submission

038607-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0402 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

121078562-121148155 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121080317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 654 (H654Y)

Ref Sequence

ENSEMBL: ENSMUSP00000143917 (fasta)

Gene Model

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

AlphaFold

P47708

Predicted Effect

probably damaging
Transcript: ENSMUST00000079204
AA Change: H654Y

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078198
Gene: ENSMUSG00000029608
AA Change: H654Y

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: ENSMUST00000202326
AA Change: H654Y

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144291
Gene: ENSMUSG00000029608
AA Change: H654Y

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: H654Y

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143917
Gene: ENSMUSG00000029608
AA Change: H654Y

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

Meta Mutation Damage Score

0.7861

Coding Region Coverage

1x: 98.2%
3x: 97.0%
10x: 94.5%
20x: 88.7%

Validation Efficiency

100% (74/74)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,445,115 (GRCm39)	K165N	probably damaging	Het
Adam6b	T	A	12: 113,453,615 (GRCm39)	M144K	probably damaging	Het
Arhgap44	T	C	11: 64,922,903 (GRCm39)		probably benign	Het
Arl5c	T	A	11: 97,885,939 (GRCm39)	I21F	probably damaging	Het
Bglap2	C	T	3: 88,285,552 (GRCm39)	G40D	probably damaging	Het
Bptf	T	C	11: 106,964,940 (GRCm39)	E1303G	probably damaging	Het
Calhm1	T	C	19: 47,129,896 (GRCm39)	T209A	probably damaging	Het
Ccr8	A	G	9: 119,923,976 (GRCm39)		probably null	Het
Chkb	C	T	15: 89,313,610 (GRCm39)	R65Q	probably benign	Het
Col4a1	T	C	8: 11,249,838 (GRCm39)		probably benign	Het
Cryzl2	A	G	1: 157,292,014 (GRCm39)	T98A	probably benign	Het
D430041D05Rik	T	C	2: 103,998,509 (GRCm39)	T1080A	probably damaging	Het
Dhx8	C	A	11: 101,643,223 (GRCm39)	T765N	probably damaging	Het
Dicer1	T	C	12: 104,697,323 (GRCm39)	D78G	probably benign	Het
Drd2	A	G	9: 49,316,271 (GRCm39)	I344V	probably benign	Het
Edil3	A	T	13: 89,347,570 (GRCm39)		probably benign	Het
Fbxw19	C	T	9: 109,313,493 (GRCm39)	G235D	probably benign	Het
Fzd1	T	C	5: 4,805,702 (GRCm39)	K627E	possibly damaging	Het
Garin1b	A	G	6: 29,323,901 (GRCm39)	T209A	probably benign	Het
Garin4	T	C	1: 190,896,637 (GRCm39)	D2G	probably benign	Het
Gm10638	A	G	8: 87,472,828 (GRCm39)		probably benign	Het
H6pd	G	T	4: 150,080,773 (GRCm39)	A24E	probably damaging	Het
Hectd2	G	T	19: 36,578,929 (GRCm39)		probably null	Het
Hps5	A	G	7: 46,440,333 (GRCm39)		probably benign	Het
Irx3	T	C	8: 92,527,296 (GRCm39)	N136S	possibly damaging	Het
Kcmf1	T	C	6: 72,826,568 (GRCm39)	M1V	probably null	Het
Klrb1	A	T	6: 128,687,583 (GRCm39)	F104I	probably benign	Het
Lrfn5	T	C	12: 61,886,803 (GRCm39)	M197T	probably benign	Het
Mpdz	A	C	4: 81,279,677 (GRCm39)	M51R	possibly damaging	Het
Mtbp	G	T	15: 55,432,466 (GRCm39)	E258*	probably null	Het
Mylk3	T	A	8: 86,079,539 (GRCm39)	H373L	probably damaging	Het
Myrfl	A	G	10: 116,664,882 (GRCm39)	S383P	probably damaging	Het
Nt5c	T	C	11: 115,381,468 (GRCm39)	*195W	probably null	Het
Ocstamp	A	G	2: 165,238,184 (GRCm39)	V360A	possibly damaging	Het
Or10ak16	A	T	4: 118,750,426 (GRCm39)	I49F	possibly damaging	Het
Or10al6	T	A	17: 38,083,284 (GRCm39)	C247S	probably damaging	Het
Or4k35	A	G	2: 111,100,208 (GRCm39)	F168S	probably damaging	Het
Or4p19	A	T	2: 88,242,378 (GRCm39)	V208D	probably damaging	Het
Or5an9	A	G	19: 12,186,953 (GRCm39)	T8A	probably damaging	Het
Otop2	T	C	11: 115,217,234 (GRCm39)		probably benign	Het
Pom121l2	A	T	13: 22,172,649 (GRCm39)		probably benign	Het
Pon2	T	A	6: 5,272,410 (GRCm39)	K137*	probably null	Het
Ppip5k2	T	A	1: 97,647,579 (GRCm39)	Q1049L	probably benign	Het
Ralgapa2	C	T	2: 146,276,729 (GRCm39)	V504M	probably damaging	Het
Sh2d1b1	T	C	1: 170,107,342 (GRCm39)		probably benign	Het
Slc15a2	G	A	16: 36,595,960 (GRCm39)	T154I	probably benign	Het
Slc45a3	T	C	1: 131,905,265 (GRCm39)	V96A	possibly damaging	Het
Slc7a4	A	G	16: 17,393,497 (GRCm39)	S101P	probably damaging	Het
Smco2	T	C	6: 146,772,633 (GRCm39)		probably benign	Het
Spata2	A	T	2: 167,325,580 (GRCm39)	V413E	probably benign	Het
Specc1l	A	G	10: 75,082,260 (GRCm39)	E552G	probably damaging	Het
Sstr5	C	T	17: 25,711,008 (GRCm39)	V74M	probably benign	Het
Timm50	G	A	7: 28,006,280 (GRCm39)	R274W	probably damaging	Het
Tll2	A	G	19: 41,087,132 (GRCm39)	V573A	possibly damaging	Het
Tm7sf3	C	A	6: 146,507,685 (GRCm39)	R459M	possibly damaging	Het
Txk	A	G	5: 72,889,105 (GRCm39)		probably null	Het
Uroc1	A	G	6: 90,324,284 (GRCm39)	D436G	probably damaging	Het
Vmn1r13	T	A	6: 57,187,083 (GRCm39)	Y81N	possibly damaging	Het
Vmn2r19	A	G	6: 123,313,141 (GRCm39)	E737G	probably damaging	Het
Wfs1	A	G	5: 37,134,324 (GRCm39)		probably benign	Het
Zfp1	G	A	8: 112,396,875 (GRCm39)	E285K	probably damaging	Het
Zfp1005	T	A	2: 150,111,136 (GRCm39)	C609S	possibly damaging	Het
Zfp661	G	A	2: 127,419,640 (GRCm39)	Q167*	probably null	Het
Zswim8	T	C	14: 20,760,834 (GRCm39)	F36S	probably damaging	Het
Zw10	A	G	9: 48,980,023 (GRCm39)	T385A	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
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
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'- TCTTCTGTAGCAGGACCTGAAGTGG -3'
(R):5'- CAGAGCAACACCTCTCAGAGAATGG -3'

Sequencing Primer
(F):5'- TGGGGGAGACATGAAAGGTTC -3'
(R):5'- CCTCTCAGAGAATGGGCAGG -3'

Posted On

2013-05-09