Mutagenetix > Incidental Mutation

Incidental Mutation 'R4904:Syn3'

378045

Institutional Source

Beutler Lab

Gene Symbol

Syn3

Ensembl Gene

ENSMUSG00000059602

Gene Name

synapsin III

Synonyms

Synapsin IIIa

MMRRC Submission

042507-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4904 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85890989-86334760 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 86302950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 68 (K68N)

Ref Sequence

ENSEMBL: ENSMUSP00000113408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120638] [ENSMUST00000121789]

AlphaFold

Q8JZP2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120638
AA Change: K68N

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113720
Gene: ENSMUSG00000059602
AA Change: K68N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121789
AA Change: K68N

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113408
Gene: ENSMUSG00000059602
AA Change: K68N

Domain	Start	End	E-Value	Type
Pfam:Synapsin_N	1	32	2.2e-25	PFAM
low complexity region	47	66	N/A	INTRINSIC
Pfam:Synapsin	87	190	3.6e-63	PFAM
Pfam:Synapsin_C	192	242	6.7e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123783

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145864

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

94% (82/87)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	T	G	4: 129,906,332 (GRCm39)	I920S	possibly damaging	Het
Afap1l1	A	G	18: 61,871,786 (GRCm39)	I556T	probably benign	Het
Ankfy1	C	A	11: 72,642,931 (GRCm39)	H665N	probably benign	Het
Aqp9	A	C	9: 71,069,685 (GRCm39)		probably benign	Het
Arhgap21	A	G	2: 20,854,872 (GRCm39)	S1497P	probably benign	Het
Armc7	A	G	11: 115,379,800 (GRCm39)	D166G	probably damaging	Het
Arrdc1	C	A	2: 24,816,676 (GRCm39)	V167F	possibly damaging	Het
Col6a3	A	T	1: 90,729,164 (GRCm39)	I1259N	probably damaging	Het
Coq8a	C	T	1: 180,006,168 (GRCm39)	R207Q	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dcbld1	C	T	10: 52,196,066 (GRCm39)	Q425*	probably null	Het
Def8	A	G	8: 124,188,219 (GRCm39)	N445D	probably damaging	Het
Dicer1	C	T	12: 104,679,325 (GRCm39)	V551I	probably benign	Het
Dst	A	T	1: 34,208,879 (GRCm39)	T800S	probably damaging	Het
Dtl	A	T	1: 191,300,457 (GRCm39)	C136S	probably damaging	Het
Duox1	T	A	2: 122,151,345 (GRCm39)	Y310N	probably damaging	Het
Duxf1	T	A	10: 58,059,309 (GRCm39)	R482*	probably null	Het
Ebf1	T	C	11: 44,759,996 (GRCm39)	F211S	probably damaging	Het
Gm44501	A	T	17: 40,889,884 (GRCm39)	I133F	possibly damaging	Het
Gm6625	T	C	8: 89,873,379 (GRCm39)		noncoding transcript	Het
Golgb1	A	T	16: 36,713,748 (GRCm39)	D243V	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gtf2a1l	G	A	17: 88,997,471 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,807,234 (GRCm39)	F2471L	probably damaging	Het
Hfe	A	T	13: 23,892,037 (GRCm39)	I109N	probably damaging	Het
Hrg	A	G	16: 22,770,000 (GRCm39)	E43G	probably benign	Het
Hspa1a	T	C	17: 35,189,427 (GRCm39)	D492G	probably damaging	Het
Itgb8	T	C	12: 119,134,606 (GRCm39)	D487G	probably benign	Het
Jag1	A	G	2: 136,929,062 (GRCm39)	V798A	probably damaging	Het
Kcnq5	A	G	1: 21,494,324 (GRCm39)	V501A	probably damaging	Het
Kntc1	T	C	5: 123,916,396 (GRCm39)	V743A	possibly damaging	Het
Ly86	G	T	13: 37,599,496 (GRCm39)	V126F	possibly damaging	Het
Med26	A	T	8: 73,250,691 (GRCm39)	L136H	probably damaging	Het
Mpp3	T	C	11: 101,891,413 (GRCm39)	D575G	probably benign	Het
Myoc	G	A	1: 162,466,994 (GRCm39)	M54I	probably benign	Het
Nlrp1c-ps	A	G	11: 71,133,454 (GRCm39)		noncoding transcript	Het
Or10v9	C	T	19: 11,833,231 (GRCm39)	V29M	possibly damaging	Het
Or51t4	A	G	7: 102,598,272 (GRCm39)	Y190C	probably damaging	Het
Or5v1b	A	G	17: 37,841,522 (GRCm39)	Y218C	probably damaging	Het
Pak5	A	T	2: 135,925,267 (GRCm39)	D678E	probably benign	Het
Pcdhb12	T	C	18: 37,570,909 (GRCm39)	V685A	possibly damaging	Het
Pcdhga2	A	G	18: 37,802,932 (GRCm39)	T259A	possibly damaging	Het
Pde6a	A	T	18: 61,398,105 (GRCm39)	M702L	probably benign	Het
Pigq	A	G	17: 26,150,034 (GRCm39)		probably benign	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Ptch1	A	C	13: 63,670,818 (GRCm39)	I904S	probably damaging	Het
Rflnb	A	T	11: 75,912,964 (GRCm39)	C141*	probably null	Het
Rilpl1	C	A	5: 124,652,807 (GRCm39)		probably null	Het
Rpgrip1	T	C	14: 52,358,544 (GRCm39)	S217P	possibly damaging	Het
Rpgrip1	A	T	14: 52,397,586 (GRCm39)	I1292F	probably damaging	Het
Sema3a	A	C	5: 13,631,066 (GRCm39)	Y534S	probably damaging	Het
Sez6	A	G	11: 77,866,080 (GRCm39)	Y736C	probably damaging	Het
Shank1	G	T	7: 43,983,464 (GRCm39)		probably benign	Het
Slc45a4	G	A	15: 73,458,691 (GRCm39)	S294F	probably benign	Het
Slc9a8	A	G	2: 167,313,316 (GRCm39)	I393V	possibly damaging	Het
Sod1	T	A	16: 90,019,732 (GRCm39)	F46Y	probably damaging	Het
Sult1b1	T	C	5: 87,682,912 (GRCm39)	D11G	probably benign	Het
Taar8c	C	T	10: 23,977,147 (GRCm39)	V222I	probably benign	Het
Tbx20	T	C	9: 24,670,129 (GRCm39)	K235E	probably damaging	Het
Tcaf3	C	A	6: 42,570,931 (GRCm39)	E274*	probably null	Het
Tll1	A	T	8: 64,523,233 (GRCm39)	M493K	probably benign	Het
Tmem236	T	A	2: 14,200,803 (GRCm39)	S123T	probably benign	Het
Trim33	T	C	3: 103,238,963 (GRCm39)	V647A	possibly damaging	Het
Tspear	T	A	10: 77,705,489 (GRCm39)	Y296N	possibly damaging	Het
Vps13d	T	C	4: 144,882,015 (GRCm39)	K1187E	probably damaging	Het
Xpot	C	T	10: 121,453,083 (GRCm39)	V52I	probably benign	Het
Zdhhc3	A	T	9: 122,929,452 (GRCm39)	V61E	probably damaging	Het
Zfp955a	A	T	17: 33,461,162 (GRCm39)	C323*	probably null	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
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
R8248:Syn3	UTSW	10	85,970,885 (GRCm39)	missense	probably benign	0.13
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'- TTGATGAACGCCTCCTGCTC -3'
(R):5'- TCTGACAGCAGCTTTGTGGC -3'

Sequencing Primer
(F):5'- GCTAGCCTCAGAAACTATGTAAGC -3'
(R):5'- AGCTTTGTGGCCAACCTG -3'

Posted On

2016-04-15