Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00657:Sytl2'

14339

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sytl2

Ensembl Gene

ENSMUSG00000030616

Gene Name

synaptotagmin-like 2

Synonyms

Slp2-b, Slp2-c, Slp2-d, Slp2, Slp2-a

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.302) question?

Stock #

IGL00657

Quality Score

Status

Chromosome

Chromosomal Location

89951460-90059927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90050618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 695 (R695G)

Ref Sequence

ENSEMBL: ENSMUSP00000139450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107210] [ENSMUST00000107211] [ENSMUST00000190731] [ENSMUST00000190837]

AlphaFold

Q99N50

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000098310

SMART Domains

Protein: ENSMUSP00000095912
Gene: ENSMUSG00000030616

Domain	Start	End	E-Value	Type
low complexity region	938	966	N/A	INTRINSIC
C2	990	1095	4.59e-15	SMART
C2	1139	1242	6.44e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107210
AA Change: R682G

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102828
Gene: ENSMUSG00000030616
AA Change: R682G

Domain	Start	End	E-Value	Type
Pfam:FYVE_2	5	59	5.5e-9	PFAM
low complexity region	192	205	N/A	INTRINSIC
low complexity region	317	328	N/A	INTRINSIC
C2	620	725	4.59e-15	SMART
C2	769	872	6.44e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107211
AA Change: R706G

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102829
Gene: ENSMUSG00000030616
AA Change: R706G

Domain	Start	End	E-Value	Type
Pfam:FYVE_2	5	59	5.6e-9	PFAM
low complexity region	192	205	N/A	INTRINSIC
low complexity region	317	328	N/A	INTRINSIC
low complexity region	592	620	N/A	INTRINSIC
C2	644	749	4.59e-15	SMART
C2	793	896	6.44e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190365

Predicted Effect

probably benign
Transcript: ENSMUST00000190731
AA Change: R722G

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000139865
Gene: ENSMUSG00000030616
AA Change: R722G

Domain	Start	End	E-Value	Type
Pfam:FYVE_2	5	59	5.8e-9	PFAM
low complexity region	192	205	N/A	INTRINSIC
low complexity region	317	328	N/A	INTRINSIC
low complexity region	608	636	N/A	INTRINSIC
C2	660	765	4.59e-15	SMART
C2	809	912	6.44e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190837
AA Change: R695G

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

SMART Domains

Protein: ENSMUSP00000139450
Gene: ENSMUSG00000030616
AA Change: R695G

Domain	Start	End	E-Value	Type
Pfam:FYVE_2	5	59	5.6e-9	PFAM
low complexity region	82	93	N/A	INTRINSIC
low complexity region	165	178	N/A	INTRINSIC
low complexity region	290	301	N/A	INTRINSIC
low complexity region	581	609	N/A	INTRINSIC
C2	633	738	4.59e-15	SMART
C2	782	885	6.44e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209188

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208809

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208486

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a synaptotagmin-like protein (SLP) that belongs to a C2 domain-containing protein family. The SLP homology domain (SHD) of this protein has been shown to specifically bind the GTP-bound form of Ras-related protein Rab-27A (RAB27A). This protein plays a role in RAB27A-dependent vesicle trafficking and controls melanosome distribution in the cell periphery. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jun 2009]
PHENOTYPE: Mice homozygous for a null allele display abnormal gastric surface mucus cell morphology and reduced basal mucin secretion from gastric cells [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cntnap2	A	G	6: 46,965,721 (GRCm39)	D844G	probably damaging	Het
Krt7	A	G	15: 101,324,966 (GRCm39)		probably benign	Het
Lrig2	T	C	3: 104,374,487 (GRCm39)	E556G	probably damaging	Het
Mettl15	A	G	2: 108,923,552 (GRCm39)	I290T	probably damaging	Het
Mysm1	T	C	4: 94,848,602 (GRCm39)	E477G	probably benign	Het
Nasp	T	C	4: 116,461,416 (GRCm39)	Y234C	probably damaging	Het
Nipal2	A	G	15: 34,600,224 (GRCm39)	Y198H	probably damaging	Het
Nup153	T	A	13: 46,834,626 (GRCm39)		probably benign	Het
Prdm1	A	G	10: 44,317,888 (GRCm39)	S327P	probably damaging	Het
Rhobtb1	C	A	10: 69,106,051 (GRCm39)	D267E	probably damaging	Het
Sec31a	G	A	5: 100,551,876 (GRCm39)	Q166*	probably null	Het
Sphkap	A	G	1: 83,254,096 (GRCm39)	C931R	probably damaging	Het
Usp31	A	G	7: 121,247,454 (GRCm39)	S1330P	probably benign	Het

Other mutations in Sytl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Sytl2	APN	7	90,022,113 (GRCm39)	missense	probably benign	0.25
IGL00788:Sytl2	APN	7	90,031,906 (GRCm39)	intron	probably benign
IGL00834:Sytl2	APN	7	90,031,844 (GRCm39)	intron	probably benign
IGL01833:Sytl2	APN	7	90,045,745 (GRCm39)	missense	probably damaging	0.99
IGL01866:Sytl2	APN	7	90,031,047 (GRCm39)	intron	probably benign
IGL02215:Sytl2	APN	7	90,030,422 (GRCm39)	intron	probably benign
IGL02934:Sytl2	APN	7	90,025,200 (GRCm39)	missense	probably benign	0.00
IGL03095:Sytl2	APN	7	90,041,642 (GRCm39)	missense	probably damaging	1.00
finder	UTSW	7	90,024,860 (GRCm39)	missense	probably damaging	1.00
keeper	UTSW	7	90,007,432 (GRCm39)	nonsense	probably null
R0126:Sytl2	UTSW	7	90,045,797 (GRCm39)	missense	probably damaging	1.00
R0269:Sytl2	UTSW	7	90,052,228 (GRCm39)	splice site	probably benign
R0270:Sytl2	UTSW	7	90,052,228 (GRCm39)	splice site	probably benign
R0271:Sytl2	UTSW	7	90,052,228 (GRCm39)	splice site	probably benign
R0288:Sytl2	UTSW	7	90,052,228 (GRCm39)	splice site	probably benign
R0528:Sytl2	UTSW	7	90,052,228 (GRCm39)	splice site	probably benign
R0601:Sytl2	UTSW	7	90,044,374 (GRCm39)	missense	probably damaging	1.00
R0610:Sytl2	UTSW	7	90,030,061 (GRCm39)	intron	probably benign
R1634:Sytl2	UTSW	7	90,044,390 (GRCm39)	missense	probably damaging	1.00
R1777:Sytl2	UTSW	7	90,052,260 (GRCm39)	missense	probably benign	0.25
R2040:Sytl2	UTSW	7	90,031,069 (GRCm39)	intron	probably benign
R3788:Sytl2	UTSW	7	90,025,289 (GRCm39)	missense	probably benign	0.00
R3843:Sytl2	UTSW	7	90,009,367 (GRCm39)	missense	possibly damaging	0.77
R3952:Sytl2	UTSW	7	90,030,700 (GRCm39)	intron	probably benign
R4082:Sytl2	UTSW	7	90,057,635 (GRCm39)	missense	possibly damaging	0.88
R4600:Sytl2	UTSW	7	90,024,977 (GRCm39)	missense	probably benign	0.11
R4651:Sytl2	UTSW	7	90,024,633 (GRCm39)	missense	probably damaging	1.00
R4724:Sytl2	UTSW	7	89,998,000 (GRCm39)	start codon destroyed	probably null	1.00
R4730:Sytl2	UTSW	7	90,030,457 (GRCm39)	intron	probably benign
R4870:Sytl2	UTSW	7	90,038,106 (GRCm39)	missense	probably damaging	1.00
R4959:Sytl2	UTSW	7	90,025,245 (GRCm39)	missense	probably damaging	0.97
R4995:Sytl2	UTSW	7	90,031,465 (GRCm39)	intron	probably benign
R5009:Sytl2	UTSW	7	90,030,523 (GRCm39)	intron	probably benign
R5096:Sytl2	UTSW	7	90,025,290 (GRCm39)	missense	possibly damaging	0.49
R5191:Sytl2	UTSW	7	90,024,860 (GRCm39)	missense	probably damaging	1.00
R5305:Sytl2	UTSW	7	90,031,071 (GRCm39)	intron	probably benign
R5538:Sytl2	UTSW	7	90,038,114 (GRCm39)	missense	probably benign	0.03
R5792:Sytl2	UTSW	7	90,024,897 (GRCm39)	missense	probably damaging	0.98
R6378:Sytl2	UTSW	7	90,007,432 (GRCm39)	nonsense	probably null
R6982:Sytl2	UTSW	7	90,045,772 (GRCm39)	missense	probably damaging	0.96
R7456:Sytl2	UTSW	7	89,998,055 (GRCm39)	missense	probably damaging	1.00
R7600:Sytl2	UTSW	7	90,025,352 (GRCm39)	missense	probably benign	0.00
R8127:Sytl2	UTSW	7	90,024,798 (GRCm39)	missense	possibly damaging	0.93
R8171:Sytl2	UTSW	7	90,058,678 (GRCm39)	missense	probably damaging	1.00
R8225:Sytl2	UTSW	7	90,024,725 (GRCm39)	missense	probably benign	0.36
R8297:Sytl2	UTSW	7	90,034,283 (GRCm39)	missense	probably benign
R8843:Sytl2	UTSW	7	90,025,334 (GRCm39)	missense	probably benign	0.03
R8929:Sytl2	UTSW	7	90,024,810 (GRCm39)	missense	probably benign	0.20
R9027:Sytl2	UTSW	7	90,028,748 (GRCm39)	missense	probably benign	0.00
R9222:Sytl2	UTSW	7	90,050,633 (GRCm39)	missense	possibly damaging	0.81
R9246:Sytl2	UTSW	7	90,007,384 (GRCm39)	missense	probably benign	0.31
R9268:Sytl2	UTSW	7	90,034,359 (GRCm39)	missense	probably benign	0.00
R9399:Sytl2	UTSW	7	90,041,658 (GRCm39)	missense	probably benign	0.23
R9480:Sytl2	UTSW	7	90,020,718 (GRCm39)	missense	possibly damaging	0.92
R9573:Sytl2	UTSW	7	90,057,599 (GRCm39)	missense	probably damaging	1.00
R9583:Sytl2	UTSW	7	90,024,800 (GRCm39)	missense	probably benign	0.02

Posted On

2012-12-06