Mutagenetix > Incidental Mutation

Incidental Mutation 'R0648:Rph3a'

57337

Institutional Source

Beutler Lab

Gene Symbol

Rph3a

Ensembl Gene

ENSMUSG00000029608

Gene Name

rabphilin 3A

Synonyms

Doc2 family, 2900002P20Rik

MMRRC Submission

038833-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0648 (G1)

Quality Score

132

Status

Validated

Chromosome

Chromosomal Location

121078562-121148155 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121097333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 261 (R261H)

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: R261H

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000078198
Gene: ENSMUSG00000029608
AA Change: R261H

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: R261H

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144291
Gene: ENSMUSG00000029608
AA Change: R261H

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: R261H

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143917
Gene: ENSMUSG00000029608
AA Change: R261H

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

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (80/80)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,184,632 (GRCm39)	V1009A	possibly damaging	Het
Acta2	T	C	19: 34,225,934 (GRCm39)	I87V	probably benign	Het
Arid1a	A	G	4: 133,412,515 (GRCm39)	Y1560H	unknown	Het
Bcor	C	T	X: 11,925,290 (GRCm39)	R102Q	probably damaging	Het
Camsap2	A	T	1: 136,232,057 (GRCm39)	D179E	probably damaging	Het
Ccdc168	A	G	1: 44,095,723 (GRCm39)	S1792P	possibly damaging	Het
Ccdc18	T	A	5: 108,283,426 (GRCm39)	S46T	probably damaging	Het
Ccdc18	A	C	5: 108,322,853 (GRCm39)	Q651P	probably damaging	Het
Cdc73	T	C	1: 143,571,200 (GRCm39)	T80A	probably benign	Het
Cdh20	T	A	1: 109,993,337 (GRCm39)		probably benign	Het
Cenpe	G	A	3: 134,935,843 (GRCm39)	G426D	probably damaging	Het
Cenpt	A	G	8: 106,571,592 (GRCm39)	V487A	probably damaging	Het
Clec2m	A	G	6: 129,307,932 (GRCm39)	F46L	probably benign	Het
Col4a1	G	A	8: 11,296,892 (GRCm39)	P84S	unknown	Het
Dennd2d	A	G	3: 106,407,871 (GRCm39)	I450M	probably damaging	Het
Dhps	C	A	8: 85,799,911 (GRCm39)		probably null	Het
Ebf1	A	T	11: 44,882,337 (GRCm39)	H431L	probably damaging	Het
Efcab6	A	G	15: 83,817,265 (GRCm39)		probably benign	Het
Egflam	T	C	15: 7,237,190 (GRCm39)	H990R	probably damaging	Het
Ercc6l2	A	G	13: 63,992,459 (GRCm39)	T303A	probably benign	Het
Fam167b	T	C	4: 129,472,150 (GRCm39)	K7E	probably benign	Het
Fgd3	T	C	13: 49,450,049 (GRCm39)	I67V	probably benign	Het
Fhip1a	A	C	3: 85,637,921 (GRCm39)	V126G	probably damaging	Het
Fn1	A	T	1: 71,636,744 (GRCm39)	V2045D	possibly damaging	Het
Gnl1	A	G	17: 36,293,490 (GRCm39)	N225S	probably damaging	Het
Gpx6	A	T	13: 21,503,047 (GRCm39)	N154Y	probably benign	Het
H2bc21	A	G	3: 96,128,851 (GRCm39)	S124G	probably benign	Het
Haus8	C	A	8: 71,709,174 (GRCm39)	G79V	probably damaging	Het
Hdgfl1	A	T	13: 26,953,836 (GRCm39)	L79Q	probably damaging	Het
Impdh2	T	C	9: 108,440,665 (GRCm39)	Y83H	probably benign	Het
Lama2	T	C	10: 26,865,372 (GRCm39)	T2929A	probably benign	Het
Lpin2	T	C	17: 71,536,307 (GRCm39)	S199P	probably benign	Het
Moap1	T	C	12: 102,708,776 (GRCm39)	T258A	probably benign	Het
Mrps35	C	A	6: 146,957,443 (GRCm39)	S156*	probably null	Het
Mrtfa	A	G	15: 80,901,121 (GRCm39)	S457P	probably damaging	Het
Mtbp	C	T	15: 55,466,597 (GRCm39)	P537S	probably benign	Het
Ncstn	C	A	1: 171,895,454 (GRCm39)	V565F	probably benign	Het
Nhsl1	A	G	10: 18,407,474 (GRCm39)	N1536S	possibly damaging	Het
Nkain4	T	C	2: 180,584,905 (GRCm39)	Q103R	possibly damaging	Het
Nsun2	T	A	13: 69,775,706 (GRCm39)	N383K	probably damaging	Het
Or13p4	C	T	4: 118,547,269 (GRCm39)	V127I	probably benign	Het
Or6c33	A	G	10: 129,853,350 (GRCm39)	N40S	probably damaging	Het
Parp1	C	T	1: 180,428,005 (GRCm39)		probably benign	Het
Pkd1	G	A	17: 24,813,911 (GRCm39)	R4125H	probably damaging	Het
Plxnd1	T	C	6: 115,970,962 (GRCm39)	I269V	possibly damaging	Het
Polr1f	C	T	12: 33,487,999 (GRCm39)	Q305*	probably null	Het
Ppp1r36dn	A	G	12: 76,498,070 (GRCm39)		noncoding transcript	Het
Qrich1	T	A	9: 108,422,076 (GRCm39)	N563K	probably damaging	Het
Rab3il1	TGAAG	TGAAGAAG	19: 10,004,752 (GRCm39)		probably benign	Het
Rell1	G	A	5: 64,082,088 (GRCm39)	T271M	probably benign	Het
Rgl1	A	G	1: 152,412,016 (GRCm39)		probably null	Het
Ryr2	A	T	13: 11,739,219 (GRCm39)	M2161K	possibly damaging	Het
Scaf11	T	C	15: 96,316,339 (GRCm39)	N1075S	possibly damaging	Het
Serpina3j	A	G	12: 104,280,938 (GRCm39)	D37G	probably benign	Het
Siah2	A	G	3: 58,583,635 (GRCm39)	V217A	probably damaging	Het
Sik2	T	C	9: 50,810,045 (GRCm39)	D506G	probably benign	Het
Skap2	A	C	6: 51,856,765 (GRCm39)	V279G	probably benign	Het
Slc8a3	G	T	12: 81,361,220 (GRCm39)	T533N	probably damaging	Het
Slc9a7	A	T	X: 20,028,659 (GRCm39)		probably benign	Het
Snai3	G	T	8: 123,181,733 (GRCm39)	F241L	probably damaging	Het
Speg	T	C	1: 75,404,622 (GRCm39)	S2805P	probably benign	Het
Spink5	A	T	18: 44,132,864 (GRCm39)		probably benign	Het
Tctn1	C	T	5: 122,389,761 (GRCm39)	E254K	probably benign	Het
Tdrd3	C	T	14: 87,709,618 (GRCm39)	T100M	probably damaging	Het
Tex47	T	C	5: 7,355,215 (GRCm39)	V132A	probably benign	Het
Thbs3	A	G	3: 89,123,972 (GRCm39)		probably null	Het
Tigit	T	A	16: 43,482,401 (GRCm39)	Y111F	probably damaging	Het
Tmem245	A	G	4: 56,906,270 (GRCm39)	I148T	probably benign	Het
Tmem97	A	G	11: 78,441,365 (GRCm39)	Y39H	probably benign	Het
Tnks2	T	A	19: 36,839,474 (GRCm39)		probably null	Het
Trp53bp1	A	G	2: 121,066,188 (GRCm39)	V846A	probably benign	Het
Tulp2	T	G	7: 45,169,210 (GRCm39)	I259S	probably damaging	Het
Ubxn1	G	A	19: 8,851,612 (GRCm39)	R215H	probably damaging	Het
Vmn1r17	A	G	6: 57,337,460 (GRCm39)	F253L	probably damaging	Het
Vmn2r10	T	C	5: 109,143,782 (GRCm39)	M723V	probably benign	Het
Xndc1	T	C	7: 101,728,031 (GRCm39)	V14A	possibly damaging	Het
Xpnpep1	A	G	19: 52,986,294 (GRCm39)		probably benign	Het
Yes1	T	A	5: 32,812,862 (GRCm39)	M322K	possibly damaging	Het
Zdhhc14	C	A	17: 5,543,877 (GRCm39)	N52K	probably benign	Het
Zfp42	A	G	8: 43,749,015 (GRCm39)	V162A	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
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'- TGCTCAACGCCAAGTGACCTTTC -3'
(R):5'- TGCAAGCCATGCCTCTCCTTACAG -3'

Sequencing Primer
(F):5'- AAACTCATGTGTTCTTCATATGCC -3'
(R):5'- TTACAGGCCCTGACCTCAC -3'

Posted On

2013-07-11