Mutagenetix > Incidental Mutation

Incidental Mutation 'R6766:Syn2'

531919

Institutional Source

Beutler Lab

Gene Symbol

Syn2

Ensembl Gene

ENSMUSG00000009394

Gene Name

synapsin II

Synonyms

Synapsin IIa, 2900074L19Rik, Synapsin IIb

MMRRC Submission

044882-MU

Accession Numbers

Essential gene?

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

Stock #

R6766 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115111863-115258967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115216362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 191 (F191L)

Ref Sequence

ENSEMBL: ENSMUSP00000144921 (fasta)

Gene Model

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

AlphaFold

Q64332

Predicted Effect

probably damaging
Transcript: ENSMUST00000009538
AA Change: F191L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000009538
Gene: ENSMUSG00000009394
AA Change: F191L

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 damaging
Transcript: ENSMUST00000169345
AA Change: F191L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133121
Gene: ENSMUSG00000009394
AA Change: F191L

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 damaging
Transcript: ENSMUST00000203450
AA Change: F191L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144921
Gene: ENSMUSG00000009394
AA Change: F191L

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	G	A	8: 25,362,646 (GRCm39)	S17L	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Ankrd34c	A	G	9: 89,611,381 (GRCm39)	V320A	probably benign	Het
Aox1	C	A	1: 58,388,227 (GRCm39)	L1112I	possibly damaging	Het
Arap2	A	C	5: 62,834,443 (GRCm39)		probably null	Het
Atm	A	T	9: 53,401,582 (GRCm39)	I1429N	probably damaging	Het
Ccdc68	A	G	18: 70,099,861 (GRCm39)	N290D	probably damaging	Het
Chst1	T	C	2: 92,443,542 (GRCm39)	W5R	probably damaging	Het
Clip1	G	T	5: 123,752,827 (GRCm39)		probably benign	Het
Crebbp	T	C	16: 3,935,364 (GRCm39)	T842A	probably damaging	Het
Cyp2b13	T	C	7: 25,781,236 (GRCm39)		probably null	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock1	T	A	7: 134,358,522 (GRCm39)		probably null	Het
Dst	A	G	1: 34,333,564 (GRCm39)	I4800V	probably damaging	Het
Efcab7	CAAGTAAAGTAA	CAAGTAA	4: 99,735,161 (GRCm39)		probably null	Het
Epb41l2	C	T	10: 25,348,990 (GRCm39)	Q382*	probably null	Het
Fam83e	A	G	7: 45,376,070 (GRCm39)	D261G	probably damaging	Het
Ifnk	T	G	4: 35,152,134 (GRCm39)	S21A	possibly damaging	Het
Ift122	A	G	6: 115,903,204 (GRCm39)	H1157R	probably benign	Het
Ighv1-67	T	C	12: 115,567,654 (GRCm39)	K67R	possibly damaging	Het
Inpp4a	C	A	1: 37,411,422 (GRCm39)	A97D	probably damaging	Het
Insm1	T	A	2: 146,065,346 (GRCm39)	Y387*	probably null	Het
Irgm1	T	C	11: 48,756,928 (GRCm39)	I294M	possibly damaging	Het
Isoc2b	C	T	7: 4,854,061 (GRCm39)	V104M	probably damaging	Het
Kif2c	A	C	4: 117,024,280 (GRCm39)	S311R	probably benign	Het
Morn3	G	A	5: 123,179,270 (GRCm39)	A60V	probably damaging	Het
Oit3	T	C	10: 59,274,534 (GRCm39)	N89D	probably damaging	Het
Or14c40	A	T	7: 86,313,293 (GRCm39)	N141I	probably damaging	Het
Or4c116	G	T	2: 88,942,640 (GRCm39)	T72N	possibly damaging	Het
Or4c127	T	C	2: 89,832,876 (GRCm39)	V42A	probably benign	Het
Or5d44	T	A	2: 88,142,095 (GRCm39)	Q15L	noncoding transcript	Het
Or8b48	A	C	9: 38,493,069 (GRCm39)	R165S	probably damaging	Het
Pan2	C	A	10: 128,150,381 (GRCm39)	N708K	possibly damaging	Het
Parp1	T	A	1: 180,425,927 (GRCm39)	V886E	probably damaging	Het
Pcdha8	C	A	18: 37,127,753 (GRCm39)	A745E	probably benign	Het
Pcyox1	C	T	6: 86,371,390 (GRCm39)		probably null	Het
Prl2c2	A	T	13: 13,176,713 (GRCm39)		probably null	Het
Samd1	T	C	8: 84,726,361 (GRCm39)	S473P	possibly damaging	Het
Slc26a1	A	T	5: 108,819,773 (GRCm39)	D475E	probably damaging	Het
Slco1c1	T	C	6: 141,493,535 (GRCm39)	V239A	possibly damaging	Het
Smo	T	A	6: 29,736,044 (GRCm39)	L12Q	unknown	Homo
Srpk1	C	T	17: 28,821,727 (GRCm39)	R229Q	possibly damaging	Het
Syngr2	T	C	11: 117,704,261 (GRCm39)	V182A	probably benign	Het
Tarbp1	G	A	8: 127,174,139 (GRCm39)	A889V	probably benign	Het
Tbc1d2b	T	C	9: 90,108,262 (GRCm39)	T430A	probably benign	Het
Tmem217	T	A	17: 29,745,484 (GRCm39)	Y82F	probably damaging	Het
Ttll9	T	A	2: 152,841,220 (GRCm39)	Y272*	probably null	Het
Uts2r	A	G	11: 121,052,033 (GRCm39)	Y299C	probably damaging	Het
Vsig8	T	A	1: 172,388,143 (GRCm39)	M37K	probably benign	Het
Vwf	G	T	6: 125,616,339 (GRCm39)	D1218Y	unknown	Het
Wdr11	T	G	7: 129,226,036 (GRCm39)	M727R	probably benign	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Yod1	T	A	1: 130,647,008 (GRCm39)	L295*	probably null	Het
Zfp113	G	T	5: 138,143,608 (GRCm39)	S214*	probably null	Het
Zfp438	T	A	18: 5,213,780 (GRCm39)	M393L	probably benign	Het
Zfp946	G	A	17: 22,674,752 (GRCm39)	C502Y	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
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
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'- TCCTCAGGTCTTTGGAAAGTGTAG -3'
(R):5'- CTGACAAGCCTCTCGGATCTTC -3'

Sequencing Primer
(F):5'- ATAGTTCTGGATGGGTACATGC -3'
(R):5'- CTCAGTCCGTGCTACTATTGGAG -3'

Posted On

2018-08-29