Mutagenetix > Incidental Mutations

Incidental Mutation 'R6378:Sytl2'

515122

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.264) question?

Stock #

R6378 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90302252-90410719 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 90358224 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 65 (K65*)

Ref Sequence

ENSEMBL: ENSMUSP00000147191 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000107210
AA Change: K65*

SMART Domains

Protein: ENSMUSP00000102828
Gene: ENSMUSG00000030616
AA Change: K65*

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 null
Transcript: ENSMUST00000107211
AA Change: K65*

SMART Domains

Protein: ENSMUSP00000102829
Gene: ENSMUSG00000030616
AA Change: K65*

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 null
Transcript: ENSMUST00000190731
AA Change: K65*

SMART Domains

Protein: ENSMUSP00000139865
Gene: ENSMUSG00000030616
AA Change: K65*

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 null
Transcript: ENSMUST00000190837
AA Change: K65*

SMART Domains

Protein: ENSMUSP00000139450
Gene: ENSMUSG00000030616
AA Change: K65*

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

probably null
Transcript: ENSMUST00000207578
AA Change: K65*

Predicted Effect

probably null
Transcript: ENSMUST00000208720
AA Change: K65*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	A	T	15: 73,123,925	D408E	probably benign	Het
Agpat2	T	C	2: 26,596,135	N178S	probably benign	Het
Arsi	T	C	18: 60,916,501	F152S	probably damaging	Het
Atp13a2	T	A	4: 141,007,056	L1163Q	probably benign	Het
Bpifb2	T	A	2: 153,891,152	L385Q	possibly damaging	Het
C330018D20Rik	A	G	18: 56,962,507	L2P	probably damaging	Het
Cby3	A	G	11: 50,359,533	T189A	probably damaging	Het
Cdc42bpa	A	T	1: 180,093,996	D567V	possibly damaging	Het
Cdh5	T	A	8: 104,126,536		probably null	Het
Cela1	C	T	15: 100,687,190	V20I	probably benign	Het
Cmpk2	G	A	12: 26,469,416	G22E	possibly damaging	Het
Ctcf	T	A	8: 105,663,791	V10E	possibly damaging	Het
Dpp10	C	A	1: 123,411,739	C353F	probably damaging	Het
Efcab3	A	G	11: 105,108,794	S5546G	possibly damaging	Het
Elp3	G	T	14: 65,592,971	Y10*	probably null	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Eml4	T	A	17: 83,448,217	W336R	probably damaging	Het
Erich6	T	C	3: 58,622,359		probably null	Het
Eya1	T	C	1: 14,302,803	N31D	possibly damaging	Het
Fam103a1	A	G	7: 81,767,639	Y29C	probably damaging	Het
Fam81a	T	A	9: 70,110,346	N106Y	probably damaging	Het
Frrs1	A	G	3: 116,900,990	T487A	possibly damaging	Het
Ganc	T	C	2: 120,433,826	M420T	probably damaging	Het
Gimap7	A	T	6: 48,724,182	E234V	probably damaging	Het
Gpbp1	T	C	13: 111,433,612	N400S	probably damaging	Het
Gucy2g	T	C	19: 55,240,945	S98G	probably benign	Het
Hoxd10	T	C	2: 74,694,334	I330T	possibly damaging	Het
Ik	T	A	18: 36,757,288	I539N	probably damaging	Het
Il17rb	G	A	14: 30,000,363	T237I	probably damaging	Het
Ing2	T	A	8: 47,669,258	Q85L	probably benign	Het
Lrp4	C	A	2: 91,493,829	N1208K	probably benign	Het
Lvrn	T	A	18: 46,894,957	S888R	probably benign	Het
Map2	T	C	1: 66,415,329	V1126A	probably damaging	Het
Mapkapk5	A	G	5: 121,539,170		probably null	Het
Mis18bp1	T	C	12: 65,149,247	D581G	probably benign	Het
Muc4	T	C	16: 32,778,946	V3289A	probably benign	Het
Myom2	T	A	8: 15,099,356	I609N	probably benign	Het
Nav1	A	T	1: 135,454,695	M1343K	probably damaging	Het
Ndufaf1	T	C	2: 119,655,726	I302V	probably damaging	Het
Neb	T	A	2: 52,293,721	K978N	probably damaging	Het
Nol8	A	G	13: 49,667,355	E878G	probably damaging	Het
Nrde2	A	T	12: 100,130,757	I928N	probably damaging	Het
Nxf1	T	A	19: 8,764,546	D145E	probably benign	Het
Obox3	T	A	7: 15,626,102	H214L	probably benign	Het
Obscn	T	C	11: 59,073,746	E3199G	probably damaging	Het
Ogfod3	T	C	11: 121,202,935	E83G	probably benign	Het
Olfr1416	A	G	1: 92,480,456	L55P	probably damaging	Het
Olfr281	T	C	15: 98,456,544	V78A	probably benign	Het
Olfr457	T	G	6: 42,471,753	M142L	probably benign	Het
Olfr96	T	A	17: 37,225,797	V224E	probably benign	Het
Pcsk4	G	T	10: 80,328,975	H69N	probably benign	Het
Plcl2	C	T	17: 50,668,160		probably null	Het
Pmfbp1	T	C	8: 109,530,266	I534T	probably damaging	Het
Pqlc3	T	C	12: 16,997,643	Y96C	probably damaging	Het
Prss23	A	T	7: 89,510,033	I276N	probably damaging	Het
Rhd	T	A	4: 134,894,385	F403Y	possibly damaging	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908		probably benign	Homo
Scg5	A	G	2: 113,827,392	V58A	possibly damaging	Het
Scn5a	C	T	9: 119,486,036	G1868R	probably damaging	Het
Secisbp2l	A	G	2: 125,768,325	S225P	possibly damaging	Het
Sema4f	A	T	6: 82,917,632	L486*	probably null	Het
Slc25a47	G	A	12: 108,856,143	R286H	probably damaging	Het
Slc5a8	A	C	10: 88,905,054	K277T	probably damaging	Het
Sorcs1	T	A	19: 50,225,177	E704V	possibly damaging	Het
Sptan1	T	C	2: 30,018,515	S1768P	probably damaging	Het
Srd5a2	C	T	17: 74,021,383		probably null	Het
Tas2r109	T	G	6: 132,980,881	I29L	probably benign	Het
Tfap2a	A	T	13: 40,723,241	V234E	possibly damaging	Het
Tgfbr3	G	A	5: 107,177,813	L128F	probably benign	Het
Trappc12	A	T	12: 28,747,083	L150Q	probably damaging	Het
Trim43b	T	A	9: 89,085,399	I395L	probably benign	Het
U2surp	C	T	9: 95,491,421	E232K	probably benign	Het
Vax1	T	C	19: 59,166,224	N327S	probably benign	Het
Vmn1r14	T	C	6: 57,233,602	V11A	probably benign	Het
Vmn1r60	A	G	7: 5,544,783	V106A	probably damaging	Het
Vmn2r106	T	C	17: 20,278,405	S415G	probably benign	Het
Vmn2r3	C	T	3: 64,275,096	G394D	probably damaging	Het
Ybx2	A	G	11: 69,940,353	E63G	possibly damaging	Het
Zfhx4	T	A	3: 5,243,350	N545K	probably benign	Het
Zp1	T	C	19: 10,914,853	T56A	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
R3788:Sytl2	UTSW	7	90376081	missense	probably benign	0.00
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
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
R8127:Sytl2	UTSW	7	90375590	missense	possibly damaging	0.93
R8171:Sytl2	UTSW	7	90409470	missense	probably damaging	1.00
R8225:Sytl2	UTSW	7	90375517	missense	probably benign	0.36
R8297:Sytl2	UTSW	7	90385075	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGGCACATAAATTAGGAAGAGCTTC -3'
(R):5'- GGCCATACACTATGCAAAGC -3'

Sequencing Primer
(F):5'- AGGAAGAGCTTCATTTTGCCTG -3'
(R):5'- TGCAAAGCATAGCCAGGC -3'

Posted On

2018-05-04