Mutagenetix > Incidental Mutation

Incidental Mutation 'R7804:Syngr2'

600685

Institutional Source

Beutler Lab

Gene Symbol

Syngr2

Ensembl Gene

ENSMUSG00000048277

Gene Name

synaptogyrin 2

Synonyms

Clast2, cellugyrin

MMRRC Submission

045859-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R7804 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117700494-117705109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 117703401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 72 (S72R)

Ref Sequence

ENSEMBL: ENSMUSP00000026649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026649] [ENSMUST00000026661] [ENSMUST00000120928] [ENSMUST00000132298] [ENSMUST00000143852] [ENSMUST00000177131] [ENSMUST00000177241]

AlphaFold

O55101

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026649
AA Change: S72R

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026649
Gene: ENSMUSG00000048277
AA Change: S72R

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Pfam:MARVEL	20	165	1.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026661

SMART Domains

Protein: ENSMUSP00000026661
Gene: ENSMUSG00000025574

Domain	Start	End	E-Value	Type
Pfam:TK	19	189	9.8e-73	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120928
AA Change: S42R

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113941
Gene: ENSMUSG00000048277
AA Change: S42R

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Pfam:MARVEL	21	135	1.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132298

SMART Domains

Protein: ENSMUSP00000135368
Gene: ENSMUSG00000093485

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
low complexity region	34	43	N/A	INTRINSIC
low complexity region	90	102	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143852
AA Change: S55R

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135529
Gene: ENSMUSG00000048277
AA Change: S55R

Domain	Start	End	E-Value	Type
Pfam:MARVEL	14	118	8e-18	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000134879
Gene: ENSMUSG00000048277
AA Change: S69R

Domain	Start	End	E-Value	Type
low complexity region	1	11	N/A	INTRINSIC
Pfam:MARVEL	18	121	1.4e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177131
AA Change: S72R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134789
Gene: ENSMUSG00000048277
AA Change: S72R

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Pfam:MARVEL	20	162	3.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177241

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

95% (55/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein containing four transmembrane regions and a C-terminal cytoplasmic tail that is tyrosine phosphorylated. The exact function of this protein is unclear, but studies of a similar rat protein suggest that it may play a role in regulating membrane traffic in non-neuronal cells. The gene belongs to the synaptogyrin gene family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	GTGTGTATGTGT	GTGTGT	11: 43,478,241 (GRCm39)		probably benign	Het
Ago4	A	T	4: 126,406,423 (GRCm39)	C296S	probably benign	Het
Apbb1	A	G	7: 105,215,807 (GRCm39)	L401P	probably damaging	Het
Cacnb2	C	A	2: 14,972,848 (GRCm39)	P252T	probably benign	Het
Ctnna2	C	T	6: 77,618,357 (GRCm39)	V202I	probably benign	Het
Dapk1	A	T	13: 60,873,153 (GRCm39)	I352F	probably benign	Het
Dexi	T	C	16: 10,360,349 (GRCm39)	D69G	possibly damaging	Het
Dlg5	T	C	14: 24,215,388 (GRCm39)	E645G	possibly damaging	Het
Dnah3	A	G	7: 119,551,841 (GRCm39)	I2826T	probably damaging	Het
Dnah3	A	G	7: 119,610,235 (GRCm39)	W1734R	probably damaging	Het
Dtna	A	G	18: 23,728,666 (GRCm39)	K287R	probably damaging	Het
Elovl5	A	G	9: 77,887,105 (GRCm39)		probably null	Het
Ess2	T	A	16: 17,729,031 (GRCm39)	I47F	probably damaging	Het
Fam222b	C	A	11: 78,044,979 (GRCm39)	P180Q	probably benign	Het
Fat3	C	T	9: 15,901,888 (GRCm39)	V3046I	probably benign	Het
Fem1a	A	G	17: 56,565,068 (GRCm39)	D387G	probably damaging	Het
Frmd5	A	G	2: 121,422,225 (GRCm39)	Y33H	probably damaging	Het
Gucy2g	A	T	19: 55,216,584 (GRCm39)	L464H	probably benign	Het
Ints2	T	C	11: 86,103,489 (GRCm39)	E1189G	possibly damaging	Het
Itgb4	T	C	11: 115,894,510 (GRCm39)	V1355A	probably damaging	Het
Lepr	A	T	4: 101,639,783 (GRCm39)	S750C	probably damaging	Het
Lingo1	T	C	9: 56,526,798 (GRCm39)	D603G	probably benign	Het
Map4k3	A	C	17: 80,922,499 (GRCm39)	V474G	probably damaging	Het
Myl4	T	A	11: 104,475,787 (GRCm39)	V167E	probably damaging	Het
Naa25	T	C	5: 121,562,652 (GRCm39)	V478A	probably benign	Het
Neurl4	T	A	11: 69,796,700 (GRCm39)	L487H	probably benign	Het
Nkx2-9	C	T	12: 56,658,917 (GRCm39)	R99H	probably damaging	Het
Or4c110	C	G	2: 88,831,855 (GRCm39)	R259P	unknown	Het
Or52x1	A	T	7: 104,853,367 (GRCm39)	M61K	probably damaging	Het
Or6c76	A	G	10: 129,612,091 (GRCm39)	I103V	probably benign	Het
Pcdhga9	A	G	18: 37,871,132 (GRCm39)	I320M	probably damaging	Het
Pi15	T	A	1: 17,695,137 (GRCm39)	C251*	probably null	Het
Pkhd1l1	A	T	15: 44,460,534 (GRCm39)	K4248*	probably null	Het
Prkg1	C	T	19: 30,556,032 (GRCm39)	V625I	probably benign	Het
Prkg1	G	A	19: 30,602,170 (GRCm39)	A362V	possibly damaging	Het
Prol1	C	T	5: 88,476,264 (GRCm39)	T218I	unknown	Het
Ptpro	G	A	6: 137,376,599 (GRCm39)		probably null	Het
Rev3l	T	A	10: 39,699,481 (GRCm39)	I1326K	probably benign	Het
Shank1	C	A	7: 43,962,308 (GRCm39)	R60S	unknown	Het
Slc24a2	A	G	4: 86,909,774 (GRCm39)	V648A	probably damaging	Het
Slc35d3	T	C	10: 19,725,116 (GRCm39)	T247A	probably damaging	Het
Specc1	C	T	11: 62,096,223 (GRCm39)	T895I	probably damaging	Het
Spta1	A	G	1: 174,023,471 (GRCm39)	E626G	possibly damaging	Het
Synj2	T	A	17: 6,069,809 (GRCm39)	L490Q	unknown	Het
Tbc1d9	T	C	8: 83,963,341 (GRCm39)	L351P	possibly damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Themis3	G	A	17: 66,862,605 (GRCm39)	T451I	probably benign	Het
Tia1	T	C	6: 86,401,364 (GRCm39)	S146P	probably benign	Het
Tpp2	T	A	1: 44,022,441 (GRCm39)	N946K	probably benign	Het
Tpr	A	T	1: 150,308,310 (GRCm39)	R1688S	probably damaging	Het
Trav12-1	A	G	14: 53,775,988 (GRCm39)	Q47R	possibly damaging	Het
Ttll9	G	A	2: 152,844,278 (GRCm39)		probably null	Het
Ttn	G	A	2: 76,537,585 (GRCm39)	T34781M	possibly damaging	Het
V1ra8	A	G	6: 90,180,298 (GRCm39)	Y167C	probably damaging	Het
Vegfb	T	C	19: 6,963,707 (GRCm39)	D84G	probably damaging	Het
Vmn2r14	A	T	5: 109,368,324 (GRCm39)	L223M	probably benign	Het
Wdr26	A	G	1: 181,010,387 (GRCm39)	I554T	probably damaging	Het

Other mutations in Syngr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1872:Syngr2	UTSW	11	117,703,364 (GRCm39)	missense	probably damaging	0.97
R1888:Syngr2	UTSW	11	117,704,224 (GRCm39)	missense	possibly damaging	0.95
R1888:Syngr2	UTSW	11	117,704,224 (GRCm39)	missense	possibly damaging	0.95
R2035:Syngr2	UTSW	11	117,704,186 (GRCm39)	missense	probably benign	0.03
R2176:Syngr2	UTSW	11	117,703,406 (GRCm39)	missense	probably damaging	1.00
R3933:Syngr2	UTSW	11	117,704,243 (GRCm39)	missense	probably damaging	0.96
R4584:Syngr2	UTSW	11	117,703,947 (GRCm39)	missense	probably damaging	1.00
R4968:Syngr2	UTSW	11	117,704,296 (GRCm39)	missense	probably damaging	1.00
R5023:Syngr2	UTSW	11	117,703,336 (GRCm39)	missense	probably benign	0.38
R6766:Syngr2	UTSW	11	117,704,261 (GRCm39)	missense	probably benign
R6891:Syngr2	UTSW	11	117,703,499 (GRCm39)	missense	probably damaging	1.00
R7340:Syngr2	UTSW	11	117,703,322 (GRCm39)	missense	probably damaging	1.00
R7833:Syngr2	UTSW	11	117,703,982 (GRCm39)	missense	probably benign	0.00
R8862:Syngr2	UTSW	11	117,703,507 (GRCm39)	missense	probably damaging	1.00
R9739:Syngr2	UTSW	11	117,703,298 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCCTGATGTCCTGCTAGG -3'
(R):5'- AGTTTCATGGCCCTCAGCTG -3'

Sequencing Primer
(F):5'- GCTAGGATCCCCCTCTCTAGG -3'
(R):5'- ATGGCCCTCAGCTGCTGTC -3'

Posted On

2019-11-26