Mutagenetix > Incidental Mutation

Incidental Mutation 'R5507:Syn3'

430992

Institutional Source

Beutler Lab

Gene Symbol

Syn3

Ensembl Gene

ENSMUSG00000059602

Gene Name

synapsin III

Synonyms

Synapsin IIIa

MMRRC Submission

043068-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5507 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85890989-86334760 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85916090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 299 (S299T)

Ref Sequence

ENSEMBL: ENSMUSP00000113720 (fasta)

Gene Model

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

AlphaFold

Q8JZP2

Predicted Effect

probably benign
Transcript: ENSMUST00000120638
AA Change: S299T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000113720
Gene: ENSMUSG00000059602
AA Change: S299T

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

noncoding transcript
Transcript: ENSMUST00000145864

Meta Mutation Damage Score

0.0606

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.2%

Validation Efficiency

100% (66/66)

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
1700009N14Rik	A	G	4: 39,451,084 (GRCm39)	T97A	probably damaging	Het
1700017N19Rik	T	C	10: 100,445,095 (GRCm39)	S27P	probably benign	Het
Acoxl	C	A	2: 127,726,394 (GRCm39)	A256E	probably damaging	Het
Akap9	A	G	5: 4,018,683 (GRCm39)	E1088G	probably benign	Het
Alox12	T	C	11: 70,145,238 (GRCm39)	T112A	possibly damaging	Het
Ampd2	A	G	3: 107,984,929 (GRCm39)	V379A	probably damaging	Het
Ap4e1	C	A	2: 126,850,818 (GRCm39)	H49N	probably damaging	Het
Arhgap11a	T	C	2: 113,672,023 (GRCm39)	T260A	probably benign	Het
Atg2a	T	C	19: 6,295,100 (GRCm39)	F171S	possibly damaging	Het
Bpifb9b	A	T	2: 154,158,947 (GRCm39)	Y488F	possibly damaging	Het
C2cd2	T	C	16: 97,682,820 (GRCm39)	T139A	probably benign	Het
Cct8l1	A	T	5: 25,721,377 (GRCm39)	T31S	probably benign	Het
Cdhr1	A	T	14: 36,804,802 (GRCm39)	N469K	probably damaging	Het
Chga	T	C	12: 102,528,868 (GRCm39)	S282P	probably benign	Het
Chrnb4	T	G	9: 54,942,296 (GRCm39)	H326P	probably damaging	Het
Cntnap1	A	G	11: 101,074,303 (GRCm39)	T748A	probably benign	Het
Cpsf3	T	A	12: 21,347,929 (GRCm39)	L250H	probably damaging	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dppa5a	T	A	9: 78,275,353 (GRCm39)	D10V	possibly damaging	Het
Dsc2	G	A	18: 20,179,336 (GRCm39)	T244I	probably damaging	Het
Elavl4	T	C	4: 110,070,403 (GRCm39)	T144A	probably benign	Het
Ephb1	C	T	9: 101,813,315 (GRCm39)	V776M	probably damaging	Het
Fcrl1	C	T	3: 87,298,549 (GRCm39)	S348F	probably benign	Het
Fga	T	A	3: 82,940,643 (GRCm39)	W766R	probably damaging	Het
Galnt14	A	G	17: 73,802,661 (GRCm39)	V477A	probably damaging	Het
Gcdh	A	G	8: 85,619,486 (GRCm39)	L103P	probably damaging	Het
Gm27013	G	A	6: 130,652,942 (GRCm39)	T840I	probably damaging	Het
Gpr179	A	T	11: 97,229,156 (GRCm39)	W1000R	probably damaging	Het
Hectd4	C	T	5: 121,419,164 (GRCm39)	A581V	unknown	Het
Ints12	T	A	3: 132,814,921 (GRCm39)	V376E	probably damaging	Het
Krt77	T	C	15: 101,769,665 (GRCm39)	I402V	probably benign	Het
Marchf1	T	C	8: 66,871,542 (GRCm39)	V102A	probably damaging	Het
Meis1	A	T	11: 18,966,168 (GRCm39)	N68K	probably benign	Het
Mthfd1l	A	G	10: 4,056,432 (GRCm39)	E916G	probably benign	Het
Muc5ac	T	C	7: 141,361,569 (GRCm39)	F1627L	possibly damaging	Het
Myef2	A	T	2: 124,958,623 (GRCm39)	M102K	probably benign	Het
Naip6	A	C	13: 100,435,423 (GRCm39)	H1033Q	probably benign	Het
Nid1	T	A	13: 13,663,622 (GRCm39)	C760*	probably null	Het
Nt5dc1	A	T	10: 34,273,226 (GRCm39)	C191S	probably benign	Het
Nup214	A	G	2: 31,878,188 (GRCm39)	E285G	possibly damaging	Het
Nvl	A	G	1: 180,962,601 (GRCm39)	L123P	probably damaging	Het
Or5t9	T	A	2: 86,659,661 (GRCm39)	H188Q	probably damaging	Het
Otog	A	G	7: 45,911,123 (GRCm39)	E658G	probably damaging	Het
Pam16	G	T	16: 4,435,880 (GRCm39)		probably benign	Het
Psg17	T	C	7: 18,553,851 (GRCm39)	D133G	probably benign	Het
Rabgap1l	A	G	1: 160,178,898 (GRCm39)	S21P	possibly damaging	Het
Rgs22	T	A	15: 36,099,798 (GRCm39)	M306L	probably damaging	Het
Ruvbl1	A	G	6: 88,444,582 (GRCm39)	K59R	probably benign	Het
Samd9l	T	C	6: 3,373,898 (GRCm39)	E1121G	possibly damaging	Het
Serpinb13	A	G	1: 106,926,332 (GRCm39)	N169S	probably benign	Het
Setbp1	T	A	18: 79,129,927 (GRCm39)	T102S	probably damaging	Het
Taar7a	A	G	10: 23,868,529 (GRCm39)	L284P	probably damaging	Het
Tlr6	C	A	5: 65,110,749 (GRCm39)	Q719H	probably damaging	Het
Tmem131	T	A	1: 36,928,361 (GRCm39)	D76V	probably damaging	Het
Tradd	T	G	8: 105,986,257 (GRCm39)	D145A	possibly damaging	Het
Usp20	A	T	2: 30,900,238 (GRCm39)	M251L	probably benign	Het
Vmn2r96	T	A	17: 18,818,091 (GRCm39)	L556Q	probably damaging	Het
Xrcc2	A	G	5: 25,897,317 (GRCm39)	S211P	probably benign	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
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'- AGACTCTGTCCACTGACTCC -3'
(R):5'- TTGTAAGACATATGGGAGTGCC -3'

Sequencing Primer
(F):5'- GTCCACTGACTCCTCCCAC -3'
(R):5'- AGTGCCCCGTTCTGGTCTG -3'

Posted On

2016-10-05