Mutagenetix > Incidental Mutation

Incidental Mutation 'R8671:Syn2'

661157

Institutional Source

Beutler Lab

Gene Symbol

Syn2

Ensembl Gene

ENSMUSG00000009394

Gene Name

synapsin II

Synonyms

Synapsin IIa, 2900074L19Rik, Synapsin IIb

MMRRC Submission

068526-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R8671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115111863-115258967 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 115255128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 480 (S480*)

Ref Sequence

ENSEMBL: ENSMUSP00000009538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009538] [ENSMUST00000169345] [ENSMUST00000203450]

AlphaFold

Q64332

Predicted Effect

probably null
Transcript: ENSMUST00000009538
AA Change: S480*

SMART Domains

Protein: ENSMUSP00000009538
Gene: ENSMUSG00000009394
AA Change: S480*

Domain	Start	End	E-Value	Type
Pfam:Synapsin_N	2	33	3.4e-24	PFAM
Pfam:Synapsin	112	213	6.4e-48	PFAM
Pfam:Synapsin_C	215	417	8.2e-140	PFAM
low complexity region	450	470	N/A	INTRINSIC
low complexity region	473	507	N/A	INTRINSIC
low complexity region	524	540	N/A	INTRINSIC
low complexity region	551	562	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169345

SMART Domains

Protein: ENSMUSP00000133121
Gene: ENSMUSG00000009394

Domain	Start	End	E-Value	Type
Pfam:Synapsin_N	2	33	1.3e-24	PFAM
Pfam:Synapsin	109	213	1.6e-62	PFAM
Pfam:Synapsin_C	215	417	4.4e-133	PFAM
Pfam:RimK	247	403	4.5e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203450

SMART Domains

Protein: ENSMUSP00000144921
Gene: ENSMUSG00000009394

Domain	Start	End	E-Value	Type
Pfam:Synapsin_N	2	33	2.7e-24	PFAM
Pfam:Synapsin	112	213	4.6e-48	PFAM
Pfam:Synapsin_C	215	417	5.3e-140	PFAM

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

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. This member of the synapsin family encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. Polymorphisms in this gene are associated with abnormal presynaptic function and related neuronal disorders, including autism, epilepsy, bipolar disorder and schizophrenia. Alternative splicing of this gene results in multiple transcript variants. The tissue inhibitor of metalloproteinase 4 gene is located within an intron of this gene and is transcribed in the opposite direction. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous mutation of this gene results in central nervous system abnormalities. One model showed delayed synapse formation and decreased brain weight while another allele showed decreased post-tetanic potentiation and increased synaptic depression and development of convulsive seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	T	4: 73,861,166 (GRCm39)	E145K	probably damaging	Het
Ambp	A	T	4: 63,068,656 (GRCm39)	Y120*	probably null	Het
Ankrd36	C	T	11: 5,579,312 (GRCm39)	A192V	probably benign	Het
Apol7e	A	T	15: 77,601,803 (GRCm39)	M134L	probably benign	Het
Atg9b	A	T	5: 24,591,107 (GRCm39)	N774K	probably benign	Het
Catsperb	T	A	12: 101,560,596 (GRCm39)	N862K	possibly damaging	Het
Ccdc7a	T	A	8: 129,646,948 (GRCm39)	D648V	probably damaging	Het
Cfap54	G	T	10: 92,790,934 (GRCm39)	P1855T	unknown	Het
Clcnkb	T	A	4: 141,139,541 (GRCm39)	T154S	probably damaging	Het
Cux1	C	T	5: 136,279,454 (GRCm39)	R609H	probably damaging	Het
Eif2ak4	A	G	2: 118,252,667 (GRCm39)	D413G	possibly damaging	Het
Elp1	A	G	4: 56,771,453 (GRCm39)	L948P	probably damaging	Het
Flnc	T	C	6: 29,443,501 (GRCm39)		probably null	Het
Grm5	T	C	7: 87,765,498 (GRCm39)		probably null	Het
Hectd3	T	G	4: 116,853,778 (GRCm39)	F225V	possibly damaging	Het
Hpcal4	G	T	4: 123,082,976 (GRCm39)	M107I	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Larp4	C	A	15: 99,908,339 (GRCm39)	Q607K	probably benign	Het
Marchf8	A	G	6: 116,378,815 (GRCm39)	R250G	probably benign	Het
Med13	A	C	11: 86,161,923 (GRCm39)	N2135K	probably damaging	Het
Msh5	T	A	17: 35,264,909 (GRCm39)	R89*	probably null	Het
Musk	T	G	4: 58,286,051 (GRCm39)		probably benign	Het
Myo18b	T	C	5: 113,022,609 (GRCm39)	Q261R	unknown	Het
Npr1	A	T	3: 90,363,464 (GRCm39)		probably benign	Het
Nynrin	T	A	14: 56,107,899 (GRCm39)	V1002E	possibly damaging	Het
Or2l5	T	C	16: 19,333,804 (GRCm39)	Y194C	possibly damaging	Het
Or4c103	A	T	2: 88,513,449 (GRCm39)	F209Y	probably benign	Het
Or4f14c	T	A	2: 111,941,333 (GRCm39)	K88M	probably damaging	Het
Or5w15	A	T	2: 87,567,990 (GRCm39)	L226Q	probably damaging	Het
Pcare	G	T	17: 72,058,372 (GRCm39)	A435E	probably benign	Het
Pcdh9	T	C	14: 94,126,086 (GRCm39)	Y28C	probably damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Potefam1	T	C	2: 111,059,877 (GRCm39)		probably benign	Het
Potefam3e	T	A	8: 19,784,775 (GRCm39)	L203*	probably null	Het
Prkd1	T	A	12: 50,435,191 (GRCm39)	N512I	probably benign	Het
Pwwp2b	C	T	7: 138,836,326 (GRCm39)	P589L	probably damaging	Het
Rasgrp4	G	A	7: 28,842,452 (GRCm39)	G242D	probably damaging	Het
Rcbtb1	T	G	14: 59,467,973 (GRCm39)	V480G	probably damaging	Het
Rptn	A	G	3: 93,305,501 (GRCm39)	S945G	probably benign	Het
Slc22a2	C	T	17: 12,824,863 (GRCm39)	Q242*	probably null	Het
Slfn3	T	A	11: 83,103,825 (GRCm39)	V232E	probably benign	Het
Stab1	T	A	14: 30,879,365 (GRCm39)	K705M	probably damaging	Het
Thsd4	A	T	9: 60,301,728 (GRCm39)	L189H	probably damaging	Het
Tinagl1	T	C	4: 130,061,597 (GRCm39)	T250A	probably benign	Het
Tnc	A	T	4: 63,935,683 (GRCm39)	C418S	probably damaging	Het
Ube2q1	A	G	3: 89,683,385 (GRCm39)	E110G	probably damaging	Het
Wdfy4	G	T	14: 32,693,722 (GRCm39)		probably benign	Het
Xcl1	T	C	1: 164,759,419 (GRCm39)	M94V	probably benign	Het
Zfp369	T	C	13: 65,444,095 (GRCm39)	S413P	possibly damaging	Het
Zfp454	A	C	11: 50,764,595 (GRCm39)	I279S	possibly damaging	Het
Zfp971	A	C	2: 177,675,730 (GRCm39)	Q443P	probably damaging	Het

Other mutations in Syn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03040:Syn2	APN	6	115,240,926 (GRCm39)	missense	possibly damaging	0.92
IGL03328:Syn2	APN	6	115,251,221 (GRCm39)	missense	probably damaging	0.97
R0044:Syn2	UTSW	6	115,112,108 (GRCm39)	missense	unknown
R0267:Syn2	UTSW	6	115,231,111 (GRCm39)	unclassified	probably benign
R2026:Syn2	UTSW	6	115,255,212 (GRCm39)	missense	probably benign	0.01
R2290:Syn2	UTSW	6	115,251,190 (GRCm39)	missense	possibly damaging	0.91
R2900:Syn2	UTSW	6	115,214,295 (GRCm39)	missense	possibly damaging	0.74
R3949:Syn2	UTSW	6	115,204,290 (GRCm39)	splice site	probably null
R3983:Syn2	UTSW	6	115,214,259 (GRCm39)	missense	probably benign	0.01
R5101:Syn2	UTSW	6	115,240,860 (GRCm39)	missense	probably damaging	1.00
R5502:Syn2	UTSW	6	115,255,313 (GRCm39)	missense	possibly damaging	0.96
R6334:Syn2	UTSW	6	115,240,875 (GRCm39)	missense	possibly damaging	0.92
R6546:Syn2	UTSW	6	115,258,059 (GRCm39)	missense	probably benign	0.18
R6766:Syn2	UTSW	6	115,216,362 (GRCm39)	missense	probably damaging	0.97
R7491:Syn2	UTSW	6	115,231,615 (GRCm39)	missense	probably benign	0.09
R9411:Syn2	UTSW	6	115,231,152 (GRCm39)	missense	possibly damaging	0.67
R9764:Syn2	UTSW	6	115,251,219 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCCTTGGGTAGCTACGTAC -3'
(R):5'- GAAGGAGCTGCTGGGTTATC -3'

Sequencing Primer
(F):5'- GCCTTGGGTAGCTACGTACAATATC -3'
(R):5'- AGCTGCTGGGTTATCTTACTTGAGC -3'

Posted On

2021-03-08