Mutagenetix > Incidental Mutation

Incidental Mutation 'R6968:Snap25'

542091

Institutional Source

Beutler Lab

Gene Symbol

Snap25

Ensembl Gene

ENSMUSG00000027273

Gene Name

synaptosomal-associated protein 25

Synonyms

Bdr, sp, SNAP-25, GENA 70

MMRRC Submission

045078-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6968 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136555373-136624348 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136611690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 64 (M64T)

Ref Sequence

ENSEMBL: ENSMUSP00000105725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028727] [ENSMUST00000110098]

AlphaFold

P60879

Predicted Effect

probably benign
Transcript: ENSMUST00000028727

SMART Domains

Protein: ENSMUSP00000028727
Gene: ENSMUSG00000027273

Domain	Start	End	E-Value	Type
t_SNARE	14	81	1.93e-12	SMART
t_SNARE	135	202	4.93e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110098
AA Change: M64T

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105725
Gene: ENSMUSG00000027273
AA Change: M64T

Domain	Start	End	E-Value	Type
t_SNARE	14	81	9.51e-12	SMART
t_SNARE	135	202	4.93e-19	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.1%

Validation Efficiency

97% (57/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation are small size, blotchy in appearance, have dilated vascular channels, and brain defects, lack spontaneous or reflexive movement and evoked neurotransmitter release at E18.5, and die at birth. An ENU-induced mutant displays neurological abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apip	C	T	2: 102,919,798 (GRCm39)	L125F	possibly damaging	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Arhgef5	T	C	6: 43,252,276 (GRCm39)	V1009A	probably benign	Het
Asah2	A	T	19: 31,989,913 (GRCm39)	I489K	probably benign	Het
Bace1	A	G	9: 45,766,263 (GRCm39)		probably null	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Ccdc162	T	C	10: 41,549,840 (GRCm39)	T348A	possibly damaging	Het
Cdkn2aip	C	A	8: 48,166,922 (GRCm39)		probably benign	Het
Cep78	A	C	19: 15,959,102 (GRCm39)	F111V	probably benign	Het
Chd4	T	A	6: 125,085,281 (GRCm39)	L784Q	probably damaging	Het
Chrna6	C	T	8: 27,896,683 (GRCm39)	C398Y	probably benign	Het
Cmip	T	C	8: 118,103,895 (GRCm39)	Y128H	probably damaging	Het
Cpne2	C	T	8: 95,275,130 (GRCm39)	P46L	probably damaging	Het
Cyp2w1	A	G	5: 139,339,746 (GRCm39)	Q112R	probably damaging	Het
Entpd3	A	T	9: 120,389,722 (GRCm39)	E336V	probably benign	Het
Fbxw28	A	C	9: 109,159,856 (GRCm39)	S197A	probably benign	Het
Foxk2	T	C	11: 121,151,308 (GRCm39)	F118L	possibly damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
Hinfp	A	C	9: 44,209,282 (GRCm39)	S306A	probably benign	Het
Hspg2	T	A	4: 137,262,467 (GRCm39)	V1663E	probably damaging	Het
Inpp4b	T	C	8: 82,571,086 (GRCm39)	I125T	probably benign	Het
Jag2	C	T	12: 112,877,878 (GRCm39)	E592K	probably benign	Het
Krt23	T	A	11: 99,371,900 (GRCm39)	E317V	probably damaging	Het
Ltbp2	C	T	12: 84,835,857 (GRCm39)		probably null	Het
Mast4	G	T	13: 102,934,586 (GRCm39)	N152K	probably damaging	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Mier2	G	A	10: 79,376,476 (GRCm39)		probably benign	Het
Mmp9	A	G	2: 164,794,860 (GRCm39)	T584A	probably benign	Het
Necab1	T	C	4: 14,957,852 (GRCm39)	E335G	probably damaging	Het
Nlrp9b	T	A	7: 19,783,433 (GRCm39)	N925K	probably damaging	Het
Nr4a2	T	C	2: 56,998,758 (GRCm39)		probably null	Het
Nrg2	T	C	18: 36,329,499 (GRCm39)	I239V	probably benign	Het
Nsun2	A	G	13: 69,779,409 (GRCm39)	D562G	probably benign	Het
Odad2	T	C	18: 7,273,155 (GRCm39)		probably null	Het
Or1e31	A	G	11: 73,690,205 (GRCm39)	I126T	possibly damaging	Het
Ormdl3	T	A	11: 98,474,941 (GRCm39)	M1L	probably benign	Het
Pcdh10	T	A	3: 45,333,977 (GRCm39)	V97D	probably damaging	Het
Pde3a	T	C	6: 141,433,658 (GRCm39)	F847L	probably damaging	Het
Ppp1r13b	C	A	12: 111,799,612 (GRCm39)	V722F	possibly damaging	Het
Rhoh	A	G	5: 66,049,862 (GRCm39)	D44G	possibly damaging	Het
Riox1	C	T	12: 83,998,147 (GRCm39)	R228C	probably damaging	Het
Rtl1	C	T	12: 109,561,113 (GRCm39)	R242Q	unknown	Het
Saxo2	T	C	7: 82,292,969 (GRCm39)	T43A	probably damaging	Het
Sec16a	G	A	2: 26,320,498 (GRCm39)	R1361C	probably damaging	Het
Sema3f	C	T	9: 107,568,648 (GRCm39)		probably null	Het
Spef2	T	C	15: 9,597,426 (GRCm39)	N1410S	probably benign	Het
Sstr2	T	C	11: 113,515,774 (GRCm39)	I231T	probably damaging	Het
Stam	A	T	2: 14,120,829 (GRCm39)	H78L	probably damaging	Het
Suox	C	T	10: 128,507,702 (GRCm39)	V109I	possibly damaging	Het
Syne1	T	C	10: 5,067,041 (GRCm39)	R7075G	probably benign	Het
Tenm3	C	T	8: 48,689,474 (GRCm39)	D2038N	probably damaging	Het
Tln1	C	T	4: 43,550,217 (GRCm39)	R482Q	probably benign	Het
Tnrc6a	T	C	7: 122,781,650 (GRCm39)	V1440A	probably benign	Het
Togaram2	A	G	17: 72,016,608 (GRCm39)	D655G	probably damaging	Het
Trgv2	A	T	13: 19,520,896 (GRCm39)	I66K	probably damaging	Het
Vmn1r113	A	T	7: 20,521,876 (GRCm39)	I223F	probably damaging	Het
Vmn2r62	T	A	7: 42,437,866 (GRCm39)	H206L	probably benign	Het
Zan	T	A	5: 137,460,075 (GRCm39)	Y1272F	unknown	Het
Zfp39	T	C	11: 58,782,306 (GRCm39)	H152R	probably benign	Het
Zfp41	T	A	15: 75,490,310 (GRCm39)	Y87*	probably null	Het
Zfp933	A	T	4: 147,910,654 (GRCm39)	L314H	probably damaging	Het

Other mutations in Snap25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0281:Snap25	UTSW	2	136,619,384 (GRCm39)	missense	probably damaging	0.99
R1257:Snap25	UTSW	2	136,600,268 (GRCm39)	missense	probably damaging	1.00
R1547:Snap25	UTSW	2	136,619,389 (GRCm39)	missense	possibly damaging	0.86
R1880:Snap25	UTSW	2	136,619,305 (GRCm39)	missense	probably damaging	1.00
R2030:Snap25	UTSW	2	136,611,973 (GRCm39)	intron	probably benign
R4808:Snap25	UTSW	2	136,612,022 (GRCm39)	missense	probably damaging	1.00
R8132:Snap25	UTSW	2	136,611,748 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCATCCTCCTGGACAATG -3'
(R):5'- TCCCCACAGAATGAAGCAGATG -3'

Sequencing Primer
(F):5'- GCATCCTCCTGGACAATGCATTG -3'
(R):5'- GACAAAACTTCAGACATTCACTTTG -3'

Posted On

2018-11-28