Mutagenetix > Incidental Mutations

Incidental Mutation 'R3788:Sytl2'

473589

Institutional Source

Beutler Lab

Gene Symbol

Sytl2

Ensembl Gene

ENSMUSG00000030616

Gene Name

synaptotagmin-like 2

Synonyms

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.301) question?

Stock #

R3788 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90302252-90410719 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90376081 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 426 (I426F)

Ref Sequence

ENSEMBL: ENSMUSP00000147191 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107210] [ENSMUST00000107211] [ENSMUST00000190731] [ENSMUST00000190837] [ENSMUST00000207578] [ENSMUST00000208720]

Predicted Effect

probably benign
Transcript: ENSMUST00000107210
AA Change: I426F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102828
Gene: ENSMUSG00000030616
AA Change: I426F

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: I426F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102829
Gene: ENSMUSG00000030616
AA Change: I426F

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

probably benign
Transcript: ENSMUST00000190731
AA Change: I426F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139865
Gene: ENSMUSG00000030616
AA Change: I426F

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: I399F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139450
Gene: ENSMUSG00000030616
AA Change: I399F

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: ENSMUST00000207455

Predicted Effect

probably benign
Transcript: ENSMUST00000207578

Predicted Effect

probably benign
Transcript: ENSMUST00000208720
AA Change: I426F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,288,297		probably null	Het
Abca4	T	A	3: 122,052,912	V26E	possibly damaging	Het
Abhd16a	A	G	17: 35,101,587	N411S	probably damaging	Het
Akap13	G	A	7: 75,702,153		probably null	Het
Aph1b	T	C	9: 66,794,066		probably benign	Het
Aspm	C	T	1: 139,463,203	T742I	probably damaging	Het
Bclaf3	A	G	X: 159,566,496	H619R	probably benign	Het
Cemip	A	T	7: 83,943,898	L1199H	probably damaging	Het
Chd2	G	A	7: 73,447,130		probably benign	Het
Clnk	A	G	5: 38,714,998	Y310H	probably damaging	Het
Crmp1	A	G	5: 37,284,140	D522G	probably damaging	Het
Cyth3	A	G	5: 143,636,543		probably benign	Het
Dcbld1	T	A	10: 52,319,658	Y392N	probably damaging	Het
Fam60a	A	G	6: 148,926,119	S134P	possibly damaging	Het
Flnc	T	C	6: 29,454,057	F1820L	probably damaging	Het
Galnt18	G	A	7: 111,520,115	R385*	probably null	Het
Gpatch3	C	A	4: 133,575,168	R137S	possibly damaging	Het
Gpc6	C	T	14: 117,624,466	P265S	probably damaging	Het
Harbi1	T	A	2: 91,720,607	D308E	probably benign	Het
Hdhd2	G	A	18: 76,955,187		probably null	Het
Hk1	T	C	10: 62,275,688	K737E	possibly damaging	Het
Hnrnpr	G	A	4: 136,336,313	V345M	probably damaging	Het
Kalrn	T	C	16: 34,220,240	H944R	probably damaging	Het
Kdm2a	A	T	19: 4,351,805	C207S	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Krt75	C	T	15: 101,573,521	G104D	possibly damaging	Het
Lnpk	A	T	2: 74,522,263	S358R	probably benign	Het
Map2	A	G	1: 66,416,863	T1512A	probably damaging	Het
March10	T	A	11: 105,397,079	L132F	probably damaging	Het
Mfrp	G	A	9: 44,105,457	W65*	probably null	Het
Mgat5	A	G	1: 127,366,443	D174G	probably benign	Het
Miga2	T	A	2: 30,371,225	Y177*	probably null	Het
Mroh3	T	C	1: 136,185,475	D747G	probably damaging	Het
Muc5b	A	G	7: 141,863,834	T3506A	possibly damaging	Het
Myo7b	G	T	18: 31,974,112	P1277T	possibly damaging	Het
Naaa	C	T	5: 92,272,554		probably null	Het
Ndufs2	T	C	1: 171,235,320	D410G	possibly damaging	Het
Olfr506	T	A	7: 108,613,073	Y255*	probably null	Het
Olfr559	A	G	7: 102,723,487		probably null	Het
Olfr873	A	G	9: 20,300,370	I58V	probably benign	Het
Olfr955	A	G	9: 39,470,069	I219T	probably benign	Het
Osbp	A	T	19: 11,978,921	Y409F	probably benign	Het
Plxnb1	T	A	9: 109,109,287	V1303D	possibly damaging	Het
Prkcg	G	A	7: 3,313,747	D246N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,219,203		probably benign	Het
Sbf1	G	A	15: 89,299,528	R1261*	probably null	Het
Scn4a	T	C	11: 106,344,274	N341S	probably damaging	Het
Sec61a2	C	A	2: 5,879,625		probably null	Het
Sgcd	T	A	11: 47,355,205	K57*	probably null	Het
Slc12a5	T	C	2: 164,993,775	L861P	probably damaging	Het
Slc6a16	A	G	7: 45,259,962	D184G	probably benign	Het
Snx7	A	G	3: 117,838,990		probably benign	Het
Sptbn2	A	G	19: 4,745,922	I1710V	probably damaging	Het
Tdp1	A	G	12: 99,891,752		probably benign	Het
Tmem232	C	A	17: 65,382,633	D496Y	possibly damaging	Het
Tomm20l	C	T	12: 71,111,742	A58V	possibly damaging	Het
Ttc26	T	A	6: 38,403,524		probably null	Het
Ttn	T	C	2: 76,945,274	E1854G	unknown	Het
Ttn	A	G	2: 76,974,208	V240A	probably benign	Het
Vmn2r98	A	T	17: 19,080,625	T630S	probably benign	Het
Xrcc1	G	C	7: 24,566,908	A220P	probably benign	Het

Other mutations in Sytl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Sytl2	APN	7	90372905	missense	probably benign	0.25
IGL00657:Sytl2	APN	7	90401410	missense	probably benign	0.40
IGL00788:Sytl2	APN	7	90382698	intron	probably benign
IGL00834:Sytl2	APN	7	90382636	intron	probably benign
IGL01833:Sytl2	APN	7	90396537	missense	probably damaging	0.99
IGL01866:Sytl2	APN	7	90381839	intron	probably benign
IGL02215:Sytl2	APN	7	90381214	intron	probably benign
IGL02934:Sytl2	APN	7	90375992	missense	probably benign	0.00
IGL03095:Sytl2	APN	7	90392434	missense	probably damaging	1.00
finder	UTSW	7	90375652	missense	probably damaging	1.00
keeper	UTSW	7	90358224	nonsense	probably null
R0126:Sytl2	UTSW	7	90396589	missense	probably damaging	1.00
R0269:Sytl2	UTSW	7	90403020	splice site	probably benign
R0270:Sytl2	UTSW	7	90403020	splice site	probably benign
R0271:Sytl2	UTSW	7	90403020	splice site	probably benign
R0288:Sytl2	UTSW	7	90403020	splice site	probably benign
R0528:Sytl2	UTSW	7	90403020	splice site	probably benign
R0601:Sytl2	UTSW	7	90395166	missense	probably damaging	1.00
R0610:Sytl2	UTSW	7	90380853	intron	probably benign
R1634:Sytl2	UTSW	7	90395182	missense	probably damaging	1.00
R1777:Sytl2	UTSW	7	90403052	missense	probably benign	0.25
R2040:Sytl2	UTSW	7	90381861	intron	probably benign
R3843:Sytl2	UTSW	7	90360159	missense	possibly damaging	0.77
R3952:Sytl2	UTSW	7	90381492	intron	probably benign
R4082:Sytl2	UTSW	7	90408427	missense	possibly damaging	0.88
R4600:Sytl2	UTSW	7	90375769	missense	probably benign	0.11
R4651:Sytl2	UTSW	7	90375425	missense	probably damaging	1.00
R4724:Sytl2	UTSW	7	90348792	start codon destroyed	probably null	1.00
R4730:Sytl2	UTSW	7	90381249	intron	probably benign
R4870:Sytl2	UTSW	7	90388898	missense	probably damaging	1.00
R4959:Sytl2	UTSW	7	90376037	missense	probably damaging	0.97
R4995:Sytl2	UTSW	7	90382257	intron	probably benign
R5009:Sytl2	UTSW	7	90381315	intron	probably benign
R5096:Sytl2	UTSW	7	90376082	missense	possibly damaging	0.49
R5191:Sytl2	UTSW	7	90375652	missense	probably damaging	1.00
R5305:Sytl2	UTSW	7	90381863	intron	probably benign
R5538:Sytl2	UTSW	7	90388906	missense	probably benign	0.03
R5792:Sytl2	UTSW	7	90375689	missense	probably damaging	0.98
R6378:Sytl2	UTSW	7	90358224	nonsense	probably null
R6982:Sytl2	UTSW	7	90396564	missense	probably damaging	0.96
R7456:Sytl2	UTSW	7	90348847	missense	probably damaging	1.00
R7600:Sytl2	UTSW	7	90376144	missense	probably benign	0.00

Predicted Primers

Posted On

2017-04-14