Mutagenetix > Incidental Mutation

Incidental Mutation 'R5008:Rph3a'

390277

Institutional Source

Beutler Lab

Gene Symbol

Rph3a

Ensembl Gene

ENSMUSG00000029608

Gene Name

rabphilin 3A

Synonyms

Doc2 family, 2900002P20Rik

MMRRC Submission

042599-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5008 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121078562-121148155 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 121083454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 605 (N605K)

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: N605K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078198
Gene: ENSMUSG00000029608
AA Change: N605K

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: N605K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144291
Gene: ENSMUSG00000029608
AA Change: N605K

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: N605K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143917
Gene: ENSMUSG00000029608
AA Change: N605K

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (73/75)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,278,192 (GRCm39)	T242R	probably damaging	Het
2310057N15Rik	A	G	16: 88,570,663 (GRCm39)	Y126H	probably damaging	Het
Catsperg1	A	T	7: 28,894,859 (GRCm39)	Y579*	probably null	Het
Chchd5	A	T	2: 128,972,319 (GRCm39)		probably null	Het
Chd1l	T	C	3: 97,491,224 (GRCm39)	N423D	probably damaging	Het
Cntnap1	G	A	11: 101,079,567 (GRCm39)	W1268*	probably null	Het
Col2a1	G	A	15: 97,877,550 (GRCm39)	A1011V	probably benign	Het
Cst11	A	G	2: 148,612,325 (GRCm39)	I104T	probably benign	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dnaaf4	T	C	9: 72,879,600 (GRCm39)		probably benign	Het
Dnah17	A	G	11: 118,001,403 (GRCm39)	F847L	probably benign	Het
Dspp	A	T	5: 104,323,439 (GRCm39)	H194L	possibly damaging	Het
Dync2i2	C	A	2: 29,922,781 (GRCm39)	R322L	probably benign	Het
Frmd5	C	A	2: 121,379,341 (GRCm39)	R414L	probably damaging	Het
Galnt3	C	A	2: 65,915,585 (GRCm39)	R592L	probably benign	Het
Gm38706	T	A	6: 130,461,580 (GRCm39)		noncoding transcript	Het
Gm38706	T	A	6: 130,461,983 (GRCm39)		noncoding transcript	Het
Hivep3	A	G	4: 119,956,114 (GRCm39)	K1477E	probably benign	Het
Igsf3	C	T	3: 101,358,233 (GRCm39)	T708M	probably damaging	Het
Ikzf4	T	G	10: 128,477,119 (GRCm39)	E64A	probably benign	Het
Klhl28	C	T	12: 65,004,001 (GRCm39)	E171K	probably damaging	Het
Krt87	T	A	15: 101,389,105 (GRCm39)	I76F	probably damaging	Het
Lat2	A	G	5: 134,631,991 (GRCm39)	V152A	probably benign	Het
Lrp12	C	T	15: 39,741,852 (GRCm39)	D288N	probably damaging	Het
Mdp1	C	T	14: 55,896,683 (GRCm39)	R126Q	probably damaging	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Muc6	G	A	7: 141,223,981 (GRCm39)		probably benign	Het
Myh4	T	A	11: 67,144,358 (GRCm39)	S1243T	probably benign	Het
Myo3b	T	A	2: 70,088,412 (GRCm39)	F892I	probably damaging	Het
Nckap5l	T	C	15: 99,323,731 (GRCm39)	N924S	possibly damaging	Het
Npnt	C	T	3: 132,612,218 (GRCm39)	C218Y	probably damaging	Het
Or2a20	T	A	6: 43,193,991 (GRCm39)	I48N	probably damaging	Het
Or2d2b	A	T	7: 106,705,288 (GRCm39)	M260K	probably damaging	Het
Or7a42	T	A	10: 78,791,905 (GRCm39)	F289I	probably damaging	Het
Pfkm	G	A	15: 98,020,570 (GRCm39)	C233Y	probably benign	Het
Pigq	A	G	17: 26,153,177 (GRCm39)	V338A	probably benign	Het
Pld4	A	T	12: 112,734,484 (GRCm39)	N415I	possibly damaging	Het
Pmm1	A	T	15: 81,842,095 (GRCm39)		probably null	Het
Polg	G	T	7: 79,109,822 (GRCm39)	P394T	probably damaging	Het
Polq	A	T	16: 36,882,749 (GRCm39)	I1359L	probably benign	Het
Pramel30	A	G	4: 144,057,836 (GRCm39)	S148G	probably benign	Het
Pros1	A	G	16: 62,748,548 (GRCm39)	N674D	possibly damaging	Het
Psme4	T	A	11: 30,806,896 (GRCm39)		probably benign	Het
Rasa3	A	T	8: 13,634,959 (GRCm39)	C453*	probably null	Het
Repin1	T	C	6: 48,573,542 (GRCm39)	V101A	probably damaging	Het
Rnf186	A	T	4: 138,694,540 (GRCm39)	M27L	probably benign	Het
Rpa1	A	G	11: 75,204,125 (GRCm39)		probably null	Het
Rps18	A	T	17: 34,171,258 (GRCm39)		probably null	Het
Scgn	A	G	13: 24,174,958 (GRCm39)	I20T	probably damaging	Het
Skint6	A	T	4: 112,848,452 (GRCm39)	V652E	possibly damaging	Het
Slc23a2	T	C	2: 131,943,414 (GRCm39)	H29R	probably damaging	Het
Slc34a3	C	T	2: 25,120,854 (GRCm39)	V383I	possibly damaging	Het
Slc5a1	A	G	5: 33,309,917 (GRCm39)	M382V	possibly damaging	Het
Slc5a3	T	A	16: 91,874,169 (GRCm39)	S75R	probably damaging	Het
Stat5b	G	C	11: 100,693,309 (GRCm39)	H111D	probably benign	Het
Tanc2	G	A	11: 105,515,886 (GRCm39)	M1I	probably null	Het
Tbcel	C	T	9: 42,327,419 (GRCm39)	G328E	probably damaging	Het
Tecta	C	A	9: 42,284,358 (GRCm39)	R909L	possibly damaging	Het
Tnip1	A	T	11: 54,828,810 (GRCm39)	M119K	probably benign	Het
Zbbx	A	C	3: 75,058,755 (GRCm39)	S51A	possibly damaging	Het
Zc3h12c	T	C	9: 52,028,000 (GRCm39)	N454S	probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	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
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'- TCTGAAAACAGCTTCCTGCAC -3'
(R):5'- AGGAAGCCGATGGATAGCTTTG -3'

Sequencing Primer
(F):5'- TGCACCGTCCTCAAGCTG -3'
(R):5'- GCTTTGAGCAGCAGAAAGAC -3'

Posted On

2016-06-06