Mutagenetix > Incidental Mutation

Incidental Mutation 'R6525:Syn3'

521725

Institutional Source

Beutler Lab

Gene Symbol

Syn3

Ensembl Gene

ENSMUSG00000059602

Gene Name

synapsin III

Synonyms

Synapsin IIIa

MMRRC Submission

044651-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6525 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85890989-86334760 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86302916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 80 (P80S)

Ref Sequence

ENSEMBL: ENSMUSP00000113720 (fasta)

Gene Model

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

AlphaFold

Q8JZP2

Predicted Effect

probably damaging
Transcript: ENSMUST00000120638
AA Change: P80S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113720
Gene: ENSMUSG00000059602
AA Change: P80S

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: P80S

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113408
Gene: ENSMUSG00000059602
AA Change: P80S

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.0%

Validation Efficiency

96% (71/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,931,308 (GRCm39)	E1447G	probably benign	Het
Acss2	A	G	2: 155,392,337 (GRCm39)	N261S	probably benign	Het
Adcy8	C	A	15: 64,609,243 (GRCm39)	G859*	probably null	Het
Agbl3	A	T	6: 34,780,529 (GRCm39)	K496*	probably null	Het
Antxrl	A	T	14: 33,782,363 (GRCm39)	D182V	probably damaging	Het
Arid5b	A	G	10: 67,933,496 (GRCm39)	L559P	possibly damaging	Het
Azi2	T	A	9: 117,876,663 (GRCm39)	S60T	probably damaging	Het
Bahcc1	T	C	11: 120,176,048 (GRCm39)	Y1931H	probably damaging	Het
Cnga1	T	A	5: 72,775,574 (GRCm39)	E49V	probably damaging	Het
Col3a1	A	G	1: 45,386,339 (GRCm39)	N160D	possibly damaging	Het
Crem	C	A	18: 3,268,070 (GRCm39)	R267L	probably damaging	Het
Ddx52	T	C	11: 83,844,145 (GRCm39)		probably null	Het
Ddx6	T	C	9: 44,534,926 (GRCm39)	I127T	probably damaging	Het
Dop1b	T	A	16: 93,606,304 (GRCm39)	Y2094N	probably damaging	Het
Dst	C	A	1: 34,202,216 (GRCm39)	N181K	probably damaging	Het
Dusp7	A	G	9: 106,246,483 (GRCm39)	K163E	possibly damaging	Het
Dynlt1a	T	A	17: 6,362,014 (GRCm39)	T55S	probably benign	Het
Enpp2	T	C	15: 54,733,607 (GRCm39)	N451S	probably benign	Het
Faap100	C	A	11: 120,269,590 (GRCm39)		probably null	Het
Fam53a	T	C	5: 33,765,262 (GRCm39)	N148S	probably damaging	Het
Fat2	T	C	11: 55,174,626 (GRCm39)	D2029G	probably damaging	Het
Flcn	A	T	11: 59,684,998 (GRCm39)	N484K	possibly damaging	Het
Gbp10	T	A	5: 105,383,950 (GRCm39)	E17D	probably benign	Het
Gm14226	T	C	2: 154,867,003 (GRCm39)	V320A	possibly damaging	Het
Gna13	T	C	11: 109,286,765 (GRCm39)	I196T	probably damaging	Het
Gorasp1	G	T	9: 119,757,061 (GRCm39)	P374T	possibly damaging	Het
Hc	T	C	2: 34,881,236 (GRCm39)	D1461G	probably benign	Het
Hmcn1	T	C	1: 150,573,317 (GRCm39)	N2111D	probably damaging	Het
Hs3st3b1	G	A	11: 63,812,424 (GRCm39)	S97L	probably benign	Het
Hsdl2	A	G	4: 59,612,696 (GRCm39)	T296A	probably damaging	Het
Impg2	A	G	16: 56,025,512 (GRCm39)	D48G	probably damaging	Het
Kbtbd12	A	T	6: 88,591,062 (GRCm39)	N383K	probably benign	Het
Kcnj12	T	G	11: 60,960,397 (GRCm39)	F232V	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Homo
Ldhb	T	C	6: 142,436,191 (GRCm39)	D326G	probably benign	Het
Lrrc49	A	G	9: 60,505,432 (GRCm39)	L607S	probably damaging	Het
Ltn1	A	G	16: 87,217,074 (GRCm39)	S388P	probably damaging	Het
Mansc4	A	G	6: 146,976,645 (GRCm39)	S324P	probably benign	Het
Meltf	G	A	16: 31,707,717 (GRCm39)	W368*	probably null	Het
Nacad	A	G	11: 6,552,255 (GRCm39)	L312P	probably damaging	Het
Ndc1	G	T	4: 107,225,304 (GRCm39)	G7W	probably benign	Het
Nmral1	T	A	16: 4,532,296 (GRCm39)	K172*	probably null	Het
Nol9	G	T	4: 152,123,906 (GRCm39)	R32L	probably damaging	Het
Nsun5	A	G	5: 135,403,912 (GRCm39)	Y296C	probably damaging	Het
Or4k51	C	T	2: 111,585,329 (GRCm39)	T245I	probably benign	Het
Oscp1	A	G	4: 125,970,571 (GRCm39)	D120G	possibly damaging	Het
Parp14	C	T	16: 35,680,811 (GRCm39)	C274Y	probably benign	Het
Pced1b	T	A	15: 97,282,679 (GRCm39)	H239Q	possibly damaging	Het
Pgap1	T	C	1: 54,521,048 (GRCm39)	I865V	probably benign	Het
Ppp6r3	T	A	19: 3,543,936 (GRCm39)	S360C	probably damaging	Het
Prb1a	A	G	6: 132,184,467 (GRCm39)	S389P	unknown	Het
Prr16	T	G	18: 51,436,227 (GRCm39)	S235R	probably benign	Het
Rab11fip1	T	C	8: 27,646,527 (GRCm39)	N183S	probably benign	Het
Rcn1	A	G	2: 105,219,320 (GRCm39)		probably null	Het
Rimkla	C	A	4: 119,325,288 (GRCm39)	A374S	probably benign	Het
Skint8	A	T	4: 111,785,935 (GRCm39)	D127V	probably damaging	Het
Slc12a6	A	G	2: 112,182,796 (GRCm39)	K724E	probably damaging	Het
Slc13a3	T	C	2: 165,248,667 (GRCm39)	N537S	unknown	Het
Slc26a5	T	C	5: 22,025,348 (GRCm39)	D457G	possibly damaging	Het
Slx4ip	T	C	2: 136,842,138 (GRCm39)	V21A	possibly damaging	Het
Stt3b	A	G	9: 115,087,626 (GRCm39)	Y291H	probably damaging	Het
Tasor2	G	A	13: 3,626,540 (GRCm39)	Q455*	probably null	Het
Tiam1	A	T	16: 89,655,485 (GRCm39)		probably null	Het
Tjp1	T	C	7: 64,993,399 (GRCm39)	D58G	probably damaging	Het
Tmprss15	T	A	16: 78,800,266 (GRCm39)	I621F	probably damaging	Het
Tns1	C	T	1: 73,992,629 (GRCm39)	S683N	probably damaging	Het
Ttn	A	G	2: 76,773,436 (GRCm39)	L2322P	probably damaging	Het
Ugdh	G	T	5: 65,574,402 (GRCm39)	H409N	probably damaging	Het
Vmn2r81	T	A	10: 79,129,560 (GRCm39)	M817K	probably benign	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Zbtb34	A	G	2: 33,302,145 (GRCm39)	V132A	probably damaging	Het
Zfp119b	A	G	17: 56,246,992 (GRCm39)	C33R	possibly damaging	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
R5507:Syn3	UTSW	10	85,916,090 (GRCm39)	missense	probably benign	0.01
R5792:Syn3	UTSW	10	86,130,492 (GRCm39)	makesense	probably null
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'- CAGCTAGCCTCAGAAACTATGTAAG -3'
(R):5'- TGCAGCCATGAACTTCCTCC -3'

Sequencing Primer
(F):5'- CTATGTAAGCCTCTTATAACACTTGC -3'
(R):5'- ACAGCAGCTTTGTGGCCAAC -3'

Posted On

2018-06-06