Mutagenetix > Incidental Mutation

Incidental Mutation 'R3983:Syn2'

350682

Institutional Source

Beutler Lab

Gene Symbol

Syn2

Ensembl Gene

ENSMUSG00000009394

Gene Name

synapsin II

Synonyms

Synapsin IIa, 2900074L19Rik, Synapsin IIb

MMRRC Submission

040944-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

R3983 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115111863-115258967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 115214259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 161 (T161S)

Ref Sequence

ENSEMBL: ENSMUSP00000144921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009538] [ENSMUST00000032462] [ENSMUST00000166681] [ENSMUST00000169345] [ENSMUST00000203450]

AlphaFold

Q64332

Predicted Effect

probably benign
Transcript: ENSMUST00000009538
AA Change: T161S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000009538
Gene: ENSMUSG00000009394
AA Change: T161S

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: ENSMUST00000032462

SMART Domains

Protein: ENSMUSP00000032462
Gene: ENSMUSG00000030317

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
NTR	30	207	1.85e-122	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166681

Predicted Effect

probably benign
Transcript: ENSMUST00000169345
AA Change: T161S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000133121
Gene: ENSMUSG00000009394
AA Change: T161S

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
AA Change: T161S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000144921
Gene: ENSMUSG00000009394
AA Change: T161S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203707

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204617

Meta Mutation Damage Score

0.0735

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (65/65)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	A	11: 23,467,220 (GRCm39)	N138Y	possibly damaging	Het
4921504E06Rik	A	G	2: 19,547,180 (GRCm39)		probably null	Het
Abcc6	T	C	7: 45,644,713 (GRCm39)	I821V	probably benign	Het
Adam34	G	A	8: 44,103,806 (GRCm39)	T613I	probably benign	Het
Ap2b1	C	T	11: 83,281,542 (GRCm39)	T816M	probably damaging	Het
Cct2	G	A	10: 116,890,040 (GRCm39)	P10L	probably damaging	Het
Cdc23	C	A	18: 34,770,539 (GRCm39)		probably benign	Het
Chrna2	G	T	14: 66,386,906 (GRCm39)	V351L	probably benign	Het
Clca3a1	T	A	3: 144,461,070 (GRCm39)	T194S	probably benign	Het
Col18a1	C	A	10: 76,924,721 (GRCm39)	D23Y	probably damaging	Het
Cyp2c50	A	C	19: 40,101,962 (GRCm39)	K400T	possibly damaging	Het
Cyp2c54	G	T	19: 40,034,699 (GRCm39)	Q324K	possibly damaging	Het
Dcpp2	T	A	17: 24,119,547 (GRCm39)	Y120*	probably null	Het
Ddx11	C	T	17: 66,441,125 (GRCm39)	R242W	probably damaging	Het
Dnah7b	T	A	1: 46,272,871 (GRCm39)	V2333E	possibly damaging	Het
Duxf4	T	A	10: 58,071,623 (GRCm39)	N197I	possibly damaging	Het
Eno3	T	A	11: 70,552,237 (GRCm39)	F296L	probably damaging	Het
Flnc	G	A	6: 29,442,940 (GRCm39)	V492M	probably damaging	Het
Gdap1	T	G	1: 17,230,131 (GRCm39)		probably benign	Het
Gm1587	C	T	14: 78,032,283 (GRCm39)	E118K	unknown	Het
Gprin3	T	C	6: 59,331,545 (GRCm39)	E254G	possibly damaging	Het
Hcrt	G	A	11: 100,652,679 (GRCm39)	R112C	probably damaging	Het
Hoxa4	A	T	6: 52,167,657 (GRCm39)	Y175N	probably benign	Het
Hydin	G	A	8: 111,118,957 (GRCm39)	G504R	probably damaging	Het
Il1rl1	A	G	1: 40,485,823 (GRCm39)	R325G	possibly damaging	Het
Kcp	A	T	6: 29,484,636 (GRCm39)	L1314Q	probably damaging	Het
Kdm5b	C	T	1: 134,559,042 (GRCm39)	P1522L	possibly damaging	Het
Kmt2d	T	G	15: 98,743,927 (GRCm39)		probably benign	Het
Map3k20	C	T	2: 72,268,571 (GRCm39)	T526I	probably damaging	Het
Mfap2	A	G	4: 140,741,554 (GRCm39)	Q71R	possibly damaging	Het
Mme	T	A	3: 63,235,485 (GRCm39)	Y178N	probably damaging	Het
Msr1	A	G	8: 40,073,059 (GRCm39)	V164A	possibly damaging	Het
Mybbp1a	T	C	11: 72,337,996 (GRCm39)	V646A	probably damaging	Het
Mybpc3	A	T	2: 90,965,714 (GRCm39)	K1175N	probably benign	Het
Myo1c	T	A	11: 75,552,325 (GRCm39)	L366Q	probably benign	Het
Or12d15	T	C	17: 37,694,289 (GRCm39)	V277A	possibly damaging	Het
Or1e22	A	G	11: 73,376,961 (GRCm39)	S230P	possibly damaging	Het
Or6f1	A	G	7: 85,970,942 (GRCm39)	Y73H	probably damaging	Het
Palmd	T	C	3: 116,717,472 (GRCm39)	T342A	probably benign	Het
Pde4d	A	G	13: 109,876,940 (GRCm39)	T29A	probably benign	Het
Rapgef5	A	G	12: 117,692,405 (GRCm39)	E563G	possibly damaging	Het
Rdh19	A	G	10: 127,686,017 (GRCm39)	N43S	probably benign	Het
Rnf44	A	C	13: 54,830,961 (GRCm39)	S98R	probably damaging	Het
Samhd1	C	A	2: 156,965,369 (GRCm39)	V149L	possibly damaging	Het
Scn4a	G	T	11: 106,238,644 (GRCm39)	N214K	probably damaging	Het
Sh3bp4	A	G	1: 89,073,591 (GRCm39)	N813S	probably benign	Het
Sirt3	A	T	7: 140,458,025 (GRCm39)	C41*	probably null	Het
Speg	C	A	1: 75,399,191 (GRCm39)	P2213T	probably benign	Het
Srcin1	T	G	11: 97,416,379 (GRCm39)	E951A	probably damaging	Het
Tbc1d4	T	C	14: 101,744,649 (GRCm39)	T326A	probably benign	Het
Tcstv2a	G	T	13: 120,725,815 (GRCm39)	A160S	possibly damaging	Het
Tes	T	A	6: 17,099,700 (GRCm39)		probably null	Het
Thoc2l	T	C	5: 104,668,889 (GRCm39)	V1137A	probably benign	Het
Tln1	T	C	4: 43,553,030 (GRCm39)	T354A	probably damaging	Het
Ttn	G	T	2: 76,632,705 (GRCm39)	S12370R	possibly damaging	Het
Twsg1	T	C	17: 66,236,758 (GRCm39)	T91A	probably benign	Het
Vmn1r181	C	T	7: 23,684,234 (GRCm39)	T233I	probably benign	Het
Wee2	A	T	6: 40,432,175 (GRCm39)	N248I	possibly damaging	Het
Zfp740	G	T	15: 102,116,678 (GRCm39)	C56F	probably benign	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
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
R8671:Syn2	UTSW	6	115,255,128 (GRCm39)	nonsense	probably null
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'- AAAGCCATGTAACGCTGCC -3'
(R):5'- CTAGACTAAGCTGCCTTTTCTAGC -3'

Sequencing Primer
(F):5'- AGTACCTGACTCAAAGGGTTTCC -3'
(R):5'- GCACTTCCATGTAACATATAGTGC -3'

Posted On

2015-10-08