Mutagenetix > Incidental Mutation

Incidental Mutation 'R8248:Syn3'

640385

Institutional Source

Beutler Lab

Gene Symbol

Syn3

Ensembl Gene

ENSMUSG00000059602

Gene Name

synapsin III

Synonyms

Synapsin IIIa

MMRRC Submission

067675-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85890989-86334760 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85970885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 246 (I246F)

Ref Sequence

ENSEMBL: ENSMUSP00000113720 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120638]

AlphaFold

Q8JZP2

Predicted Effect

probably benign
Transcript: ENSMUST00000120638
AA Change: I246F

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113720
Gene: ENSMUSG00000059602
AA Change: I246F

Domain	Start	End	E-Value	Type
Pfam:Synapsin_N	1	32	8.7e-22	PFAM
low complexity region	47	66	N/A	INTRINSIC
low complexity region	80	88	N/A	INTRINSIC
Pfam:Synapsin	89	190	1.8e-46	PFAM
Pfam:Synapsin_C	192	394	6.8e-141	PFAM
low complexity region	418	485	N/A	INTRINSIC
low complexity region	535	551	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display altered neurotransmitter release, reduced synaptic depression, and a specific delay in early axon outgrowth in cultured hippocampal neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930003A15Rik	T	C	16: 19,702,556 (GRCm39)	D24G	noncoding transcript	Het
Adam32	A	G	8: 25,391,486 (GRCm39)	S343P	possibly damaging	Het
Agbl2	G	A	2: 90,627,908 (GRCm39)	G238R	probably damaging	Het
Ahi1	T	A	10: 20,847,991 (GRCm39)	D466E	probably benign	Het
Ahnak	T	A	19: 8,979,310 (GRCm39)	V198E	probably damaging	Het
Ank2	T	A	3: 126,731,434 (GRCm39)	H658L	possibly damaging	Het
Atp8b5	T	A	4: 43,366,072 (GRCm39)	I781N	probably damaging	Het
Bloc1s6	A	T	2: 122,584,565 (GRCm39)	R47*	probably null	Het
Clk2	G	A	3: 89,080,811 (GRCm39)	V266M	probably damaging	Het
Cul9	A	C	17: 46,840,940 (GRCm39)	Y777D	probably damaging	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Dcp1a	C	T	14: 30,201,555 (GRCm39)		probably benign	Het
Dnajb2	T	G	1: 75,220,226 (GRCm39)	D248E		Het
Dpy19l1	T	C	9: 24,414,191 (GRCm39)	H79R	probably benign	Het
Elmo1	T	C	13: 20,784,371 (GRCm39)	S643P	probably damaging	Het
Evi5	A	G	5: 107,966,753 (GRCm39)		probably null	Het
Fam76b	T	C	9: 13,742,398 (GRCm39)	C110R	probably damaging	Het
Galnt7	T	A	8: 57,991,222 (GRCm39)	K429N	probably benign	Het
Gm10142	T	A	10: 77,551,950 (GRCm39)	C104S	probably damaging	Het
Gm7298	A	C	6: 121,764,402 (GRCm39)	H1427P	probably benign	Het
Golga7b	A	T	19: 42,255,310 (GRCm39)	I87F	probably damaging	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
Gpr25	C	A	1: 136,188,415 (GRCm39)	R66L	probably benign	Het
H2-Q2	A	G	17: 35,563,841 (GRCm39)	N241D	probably benign	Het
Il1a	T	C	2: 129,144,881 (GRCm39)	D179G	probably benign	Het
Itch	T	C	2: 155,048,303 (GRCm39)		probably null	Het
Itsn2	T	C	12: 4,712,052 (GRCm39)	V913A	probably benign	Het
Kdm1b	T	A	13: 47,225,354 (GRCm39)		probably benign	Het
Lama4	T	C	10: 38,937,375 (GRCm39)	I655T	possibly damaging	Het
Lats1	T	A	10: 7,581,667 (GRCm39)	S817R	probably damaging	Het
Lrrc8c	A	T	5: 105,755,733 (GRCm39)	M503L	probably benign	Het
Mast4	T	C	13: 102,875,229 (GRCm39)	T1380A	probably damaging	Het
Mfap1a	G	T	2: 121,336,976 (GRCm39)	T16K	possibly damaging	Het
Mroh2b	C	T	15: 4,960,586 (GRCm39)	T773I	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nudt7	A	G	8: 114,878,737 (GRCm39)	Y255C	probably benign	Het
Pfas	T	C	11: 68,891,089 (GRCm39)	T310A	probably damaging	Het
Pkhd1l1	T	G	15: 44,406,942 (GRCm39)	I2393R	probably damaging	Het
Pmm1	A	C	15: 81,844,932 (GRCm39)	L24R	possibly damaging	Het
Pram1	T	C	17: 33,860,138 (GRCm39)	V235A	probably benign	Het
Prg4	T	C	1: 150,330,877 (GRCm39)	T599A	unknown	Het
Prpf40b	A	G	15: 99,214,166 (GRCm39)	K812E	unknown	Het
Qars1	G	A	9: 108,386,651 (GRCm39)	A155T	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rgs6	A	G	12: 83,184,478 (GRCm39)		probably benign	Het
Rom1	T	A	19: 8,906,045 (GRCm39)	R165W	probably damaging	Het
Rps6kb2	T	A	19: 4,206,987 (GRCm39)		probably benign	Het
Ryr1	A	T	7: 28,768,546 (GRCm39)	W2808R	probably damaging	Het
Sh3gl1	A	G	17: 56,326,038 (GRCm39)		probably null	Het
Slc22a30	A	T	19: 8,347,563 (GRCm39)	M279K	probably benign	Het
Snx11	A	G	11: 96,660,759 (GRCm39)	S184P	unknown	Het
Srgap1	A	G	10: 121,640,722 (GRCm39)	C692R	probably damaging	Het
Srgap3	T	C	6: 112,700,104 (GRCm39)	N982S	probably damaging	Het
Stac	T	A	9: 111,422,813 (GRCm39)	D270V	probably benign	Het
Tnr	T	C	1: 159,719,663 (GRCm39)	V980A	probably damaging	Het
Usp17le	G	T	7: 104,419,001 (GRCm39)	A47E	possibly damaging	Het
Vmn2r118	T	C	17: 55,917,936 (GRCm39)	N192S	probably benign	Het
Zmym4	C	A	4: 126,799,162 (GRCm39)	V725L	possibly damaging	Het

Other mutations in Syn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Syn3	APN	10	86,190,280 (GRCm39)	missense	probably damaging	1.00
IGL02391:Syn3	APN	10	85,900,770 (GRCm39)	missense	probably benign	0.22
IGL02598:Syn3	APN	10	86,303,063 (GRCm39)	missense	probably damaging	0.99
IGL03007:Syn3	APN	10	85,900,778 (GRCm39)	missense	possibly damaging	0.57
IGL03379:Syn3	APN	10	85,900,736 (GRCm39)	missense	possibly damaging	0.80
R0234:Syn3	UTSW	10	86,284,750 (GRCm39)	missense	possibly damaging	0.64
R0234:Syn3	UTSW	10	86,284,750 (GRCm39)	missense	possibly damaging	0.64
R1577:Syn3	UTSW	10	86,284,728 (GRCm39)	critical splice donor site	probably null
R1597:Syn3	UTSW	10	85,970,908 (GRCm39)	missense	probably benign	0.16
R1699:Syn3	UTSW	10	85,916,075 (GRCm39)	missense	probably damaging	1.00
R1916:Syn3	UTSW	10	86,190,208 (GRCm39)	critical splice donor site	probably null
R2006:Syn3	UTSW	10	85,909,097 (GRCm39)	missense	probably benign	0.20
R2025:Syn3	UTSW	10	86,302,846 (GRCm39)	missense	probably damaging	0.97
R4413:Syn3	UTSW	10	85,891,456 (GRCm39)	unclassified	probably benign
R4904:Syn3	UTSW	10	86,302,950 (GRCm39)	missense	possibly damaging	0.91
R5050:Syn3	UTSW	10	86,243,532 (GRCm39)	missense	probably benign	0.05
R5286:Syn3	UTSW	10	86,187,428 (GRCm39)	missense	possibly damaging	0.93
R5449:Syn3	UTSW	10	86,187,434 (GRCm39)	missense	probably damaging	1.00
R5507:Syn3	UTSW	10	85,916,090 (GRCm39)	missense	probably benign	0.01
R5792:Syn3	UTSW	10	86,130,492 (GRCm39)	makesense	probably null
R6525:Syn3	UTSW	10	86,302,916 (GRCm39)	missense	probably damaging	0.99
R6605:Syn3	UTSW	10	85,893,428 (GRCm39)	missense	unknown
R7000:Syn3	UTSW	10	85,916,116 (GRCm39)	missense	probably damaging	1.00
R7619:Syn3	UTSW	10	85,893,428 (GRCm39)	missense	unknown
R7661:Syn3	UTSW	10	85,904,940 (GRCm39)	missense	probably damaging	1.00
R7710:Syn3	UTSW	10	86,243,534 (GRCm39)	missense	probably damaging	0.98
R7730:Syn3	UTSW	10	86,284,773 (GRCm39)	missense	probably benign	0.05
R7798:Syn3	UTSW	10	85,916,117 (GRCm39)	missense	probably damaging	1.00
R7819:Syn3	UTSW	10	85,891,404 (GRCm39)	unclassified	probably benign
R7899:Syn3	UTSW	10	85,900,793 (GRCm39)	missense	possibly damaging	0.94
R8342:Syn3	UTSW	10	86,302,891 (GRCm39)	missense	probably damaging	0.99
R8494:Syn3	UTSW	10	86,190,265 (GRCm39)	missense	probably damaging	1.00
R9000:Syn3	UTSW	10	85,893,489 (GRCm39)	missense	unknown
X0023:Syn3	UTSW	10	86,190,341 (GRCm39)	missense	probably benign	0.35
Z1177:Syn3	UTSW	10	85,916,073 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATTCAAGGTGATGTCCAGAGC -3'
(R):5'- ATAGCAGAGTGGCCTCCTAC -3'

Sequencing Primer
(F):5'- CATGCGTGCAAGCTTACAG -3'
(R):5'- CTCCTACAGAGGGGGATCC -3'

Posted On

2020-07-28