Mutagenetix > Incidental Mutation

Incidental Mutation 'R0225:Esyt2'

33873

Institutional Source

Beutler Lab

Gene Symbol

Esyt2

Ensembl Gene

ENSMUSG00000021171

Gene Name

extended synaptotagmin-like protein 2

Synonyms

4921504I16Rik, D12Ertd551e, 2410017M09Rik, Fam62b

MMRRC Submission

038470-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0225 (G1)

Quality Score

130

Status

Validated

Chromosome

Chromosomal Location

116281196-116391050 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116367710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 736 (N736S)

Ref Sequence

ENSEMBL: ENSMUSP00000152444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100986] [ENSMUST00000220720] [ENSMUST00000220816]

AlphaFold

Q3TZZ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000100986
AA Change: N736S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098548
Gene: ENSMUSG00000021171
AA Change: N736S

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
transmembrane domain	51	73	N/A	INTRINSIC
Pfam:SMP_LBD	115	294	3e-125	PFAM
C2	310	412	1.39e-14	SMART
C2	461	556	2.59e-14	SMART
low complexity region	660	669	N/A	INTRINSIC
C2	726	831	5.51e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220720

Predicted Effect

probably damaging
Transcript: ENSMUST00000220816
AA Change: N736S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223181

Meta Mutation Damage Score

0.2495

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (67/67)

MGI Phenotype

PHENOTYPE: Mice are viable and fertile without overt morphological defects except reduced FGF-stimulated mouse embryonic fibroblast migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	G	A	18: 38,261,264	V505I	probably benign	Het
4931417E11Rik	A	G	6: 73,469,419	L49P	possibly damaging	Het
Abca16	T	A	7: 120,540,155	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,874,855	R105Q	probably damaging	Het
Arhgap23	G	T	11: 97,444,328	V70L	probably benign	Het
AW549877	T	C	15: 3,986,294	K263E	probably damaging	Het
Bicd1	T	C	6: 149,512,950	I387T	probably benign	Het
Cd59b	G	A	2: 104,078,941		probably null	Het
Chn2	T	C	6: 54,290,451		probably benign	Het
Col18a1	T	C	10: 77,088,914	S14G	possibly damaging	Het
Col5a2	A	G	1: 45,407,035	I461T	probably benign	Het
Dnlz	T	C	2: 26,351,368	N116S	probably damaging	Het
F11	T	C	8: 45,249,077	T267A	probably benign	Het
Fam234b	T	G	6: 135,217,074	S242A	possibly damaging	Het
Gadd45b	A	G	10: 80,930,347	N11S	probably benign	Het
Garnl3	T	C	2: 33,006,804	T608A	possibly damaging	Het
Gata3	T	C	2: 9,874,809	T119A	probably benign	Het
Gm10647	A	G	9: 66,798,495		probably benign	Het
Gm10936	G	A	10: 117,248,130		noncoding transcript	Het
Gzmd	A	G	14: 56,129,704	W244R	probably damaging	Het
Hdac2	T	A	10: 36,989,184	D131E	probably benign	Het
Hira	T	A	16: 18,956,171	F949I	probably benign	Het
Ighv15-2	T	G	12: 114,565,037		probably benign	Het
Il3	A	G	11: 54,265,680		probably null	Het
Itgae	A	C	11: 73,111,342	M91L	probably benign	Het
Kat2b	A	G	17: 53,641,210	E336G	probably damaging	Het
Kctd21	T	A	7: 97,348,091	I257N	probably benign	Het
Kif23	C	G	9: 61,925,694		probably benign	Het
Lgi3	A	T	14: 70,532,821	I109L	probably benign	Het
Lhx9	A	T	1: 138,838,679	C124S	probably damaging	Het
Lipo4	A	G	19: 33,501,606	V278A	probably benign	Het
Lrch3	T	A	16: 32,961,754		probably benign	Het
Lrp1b	T	C	2: 40,596,983	E142G	probably damaging	Het
Map9	G	A	3: 82,359,983		probably benign	Het
Miox	C	T	15: 89,334,454		probably benign	Het
Mndal	A	T	1: 173,857,513		probably benign	Het
Mug2	G	T	6: 122,074,714	V952L	possibly damaging	Het
Nepn	A	T	10: 52,400,437	T29S	probably damaging	Het
Olfr1055	T	C	2: 86,347,728	I13V	possibly damaging	Het
Olfr307	A	G	7: 86,335,595	I267T	probably benign	Het
Olfr729	T	G	14: 50,148,635	K80Q	probably damaging	Het
Olfr933	A	G	9: 38,976,278	I201V	probably benign	Het
Phf3	A	T	1: 30,805,065	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,228,243	R53G	probably benign	Het
Prickle1	A	G	15: 93,510,777	L47P	possibly damaging	Het
Ptar1	T	A	19: 23,718,095	C309S	probably benign	Het
Rapgef2	A	T	3: 79,104,105	S224R	probably damaging	Het
Siglecg	G	A	7: 43,411,171	G325D	probably damaging	Het
Skor2	A	T	18: 76,859,098	I172F	unknown	Het
Slc9a1	A	G	4: 133,420,605	K645E	probably benign	Het
St14	T	A	9: 31,108,284		probably null	Het
Tas2r120	T	A	6: 132,657,589	Y211*	probably null	Het
Tbxa2r	C	A	10: 81,332,900	T141K	possibly damaging	Het
Tpd52l1	A	G	10: 31,379,256	S32P	probably damaging	Het
Ttn	T	A	2: 76,710,124	R34173W	probably damaging	Het
Ttn	C	A	2: 76,793,130	V15368L	possibly damaging	Het
Tyms	A	G	5: 30,063,258	I148T	probably damaging	Het
Vmn1r45	A	T	6: 89,933,510	Y159*	probably null	Het
Vmn1r58	A	C	7: 5,410,866	S122A	probably benign	Het
Vmn2r13	C	A	5: 109,175,049	V125L	probably benign	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Vps13b	T	C	15: 35,887,261	I3272T	probably benign	Het
Wfdc8	A	G	2: 164,597,185	Y426H	probably benign	Het
Zfp948	A	T	17: 21,587,294	K249N	probably damaging	Het
Zfyve1	A	G	12: 83,555,073		probably benign	Het
Zyg11a	G	A	4: 108,204,641	T321I	probably damaging	Het

Other mutations in Esyt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Esyt2	APN	12	116363444	missense	probably damaging	1.00
IGL01636:Esyt2	APN	12	116365930	critical splice donor site	probably null
IGL01912:Esyt2	APN	12	116339609	missense	probably damaging	1.00
IGL02310:Esyt2	APN	12	116365921	missense	probably benign	0.06
PIT4802001:Esyt2	UTSW	12	116365837	missense	probably benign	0.00
R0134:Esyt2	UTSW	12	116367710	missense	probably damaging	0.98
R0313:Esyt2	UTSW	12	116347808	missense	probably damaging	1.00
R0532:Esyt2	UTSW	12	116357198	splice site	probably benign
R2324:Esyt2	UTSW	12	116367821	missense	possibly damaging	0.50
R4610:Esyt2	UTSW	12	116318890	missense	probably damaging	0.99
R4898:Esyt2	UTSW	12	116342088	missense	probably benign	0.06
R4918:Esyt2	UTSW	12	116324140	missense	probably benign	0.30
R5052:Esyt2	UTSW	12	116367796	missense	probably damaging	1.00
R5222:Esyt2	UTSW	12	116318826	missense	probably damaging	1.00
R5800:Esyt2	UTSW	12	116370188	missense	possibly damaging	0.94
R6499:Esyt2	UTSW	12	116321170	missense	probably damaging	0.98
R6607:Esyt2	UTSW	12	116368740	missense	probably benign	0.18
R6951:Esyt2	UTSW	12	116324130	missense	probably benign	0.21
R7153:Esyt2	UTSW	12	116346508	missense	probably benign	0.00
R7173:Esyt2	UTSW	12	116363534	missense	probably benign	0.05
R7227:Esyt2	UTSW	12	116342125	missense	probably damaging	1.00
R7248:Esyt2	UTSW	12	116342238	missense	probably damaging	1.00
R7509:Esyt2	UTSW	12	116365876	missense	probably damaging	1.00
R7780:Esyt2	UTSW	12	116342098	missense	probably benign	0.15
R8077:Esyt2	UTSW	12	116342228	missense	possibly damaging	0.54
R8136:Esyt2	UTSW	12	116363459	missense	probably benign
R8264:Esyt2	UTSW	12	116365920	missense	probably benign	0.00
R8350:Esyt2	UTSW	12	116363482	missense	probably damaging	0.99
R8450:Esyt2	UTSW	12	116363482	missense	probably damaging	0.99
R9330:Esyt2	UTSW	12	116342145	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTAGCCAGTACAGACACTCAGGG -3'
(R):5'- TTAACAAGCGACTCGTGATGGGG -3'

Sequencing Primer
(F):5'- GTACAGACACTCAGGGTCTAGTC -3'
(R):5'- GCTCTAAGCTAACATTTCATCCAGG -3'

Posted On

2013-05-09