Mutagenetix > Incidental Mutation

Incidental Mutation 'R8264:Esyt2'

639743

Institutional Source

Beutler Lab

Gene Symbol

Esyt2

Ensembl Gene

ENSMUSG00000021171

Gene Name

extended synaptotagmin-like protein 2

Synonyms

4921504I16Rik, D12Ertd551e, 2410017M09Rik, Fam62b

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8264 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116281196-116391050 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 116365920 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 699 (Q699H)

Ref Sequence

ENSEMBL: ENSMUSP00000098548 (fasta)

Gene Model

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

AlphaFold

Q3TZZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000100986
AA Change: Q699H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000098548
Gene: ENSMUSG00000021171
AA Change: Q699H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (51/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,067,782	C911S	probably damaging	Het
Abcc4	T	A	14: 118,594,842	N792I	possibly damaging	Het
Acacb	A	T	5: 114,207,366	H960L	probably benign	Het
Aox1	A	G	1: 58,053,714	T162A	possibly damaging	Het
Cacna1g	T	C	11: 94,473,566	S18G	probably benign	Het
Chfr	T	A	5: 110,152,434	I348N	possibly damaging	Het
Cntln	G	A	4: 85,098,411	R12Q	probably damaging	Het
Cyp2c40	A	G	19: 39,807,527	S136P	possibly damaging	Het
Dnah14	T	A	1: 181,744,792	M2896K	probably damaging	Het
Elp6	A	G	9: 110,319,687	T215A	probably damaging	Het
Fbxo25	A	G	8: 13,929,393	T204A	possibly damaging	Het
Fhdc1	A	G	3: 84,455,032	S294P	probably damaging	Het
G530012D18Rik	C	G	1: 85,577,214	D113E	unknown	Het
Galnt10	A	G	11: 57,782,206	I463V	probably benign	Het
Glce	A	G	9: 62,060,430	F480L	probably benign	Het
H2-Aa	A	G	17: 34,287,735	V11A	probably benign	Het
Hsd17b4	A	G	18: 50,146,526	T191A	possibly damaging	Het
Itpr3	G	T	17: 27,104,112		silent	Het
Izumo4	G	T	10: 80,702,738	G8V		Het
Klk1b5	T	A	7: 44,220,030	L178H	probably damaging	Het
Lama2	T	C	10: 27,467,222	N85D	probably benign	Het
Liph	A	C	16: 21,983,971	I116R	possibly damaging	Het
Lpar5	T	A	6: 125,081,502	V62D	probably damaging	Het
Map3k19	T	A	1: 127,823,791	I303F		Het
Mymk	A	G	2: 27,067,856		probably benign	Het
Myo10	G	A	15: 25,800,109	V1424M	probably damaging	Het
Myof	T	G	19: 37,921,433	Q1528P	probably damaging	Het
Ncapd3	T	C	9: 27,094,742		probably benign	Het
Nup214	T	A	2: 31,994,726	Y500N	possibly damaging	Het
Olfr1040	T	C	2: 86,146,194	D180G	probably damaging	Het
Papd4	C	T	13: 93,175,569	G208S	probably damaging	Het
Pappa2	T	C	1: 158,854,973	Y835C	probably damaging	Het
Pcdh18	T	C	3: 49,756,581	E95G	probably damaging	Het
Phf3	A	T	1: 30,831,057	N303K	possibly damaging	Het
Pnn	C	T	12: 59,072,577	H649Y	unknown	Het
Rab11fip1	G	A	8: 27,152,480	Q764*	probably null	Het
Ralgapa2	A	T	2: 146,333,450	M1762K	possibly damaging	Het
Rif1	G	A	2: 52,090,278	A496T	noncoding transcript	Het
Rnase13	A	T	14: 51,922,457	V75D	probably damaging	Het
Sema3c	G	A	5: 17,676,539		probably benign	Het
Sema4c	C	G	1: 36,552,885	G266R	probably damaging	Het
Slfn5	A	T	11: 82,956,550	D87V	probably damaging	Het
Smpd3	T	C	8: 106,264,658	Y421C	probably damaging	Het
Snrnp40	T	C	4: 130,378,074	V188A	probably benign	Het
Srms	A	G	2: 181,212,550	Y75H	probably benign	Het
Tex15	T	C	8: 33,582,362	S2646P	probably benign	Het
Togaram1	A	G	12: 64,995,556	I1130V	probably benign	Het
Ttf1	A	G	2: 29,064,677	K18E	possibly damaging	Het
Unc5b	G	T	10: 60,768,334	T827K	probably benign	Het
Zfhx2	T	A	14: 55,065,512	T1672S	possibly 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
R0225: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
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'- CGATGATAAGCCTGCCATGG -3'
(R):5'- CCGCCTGTGAAACCTCTTAC -3'

Sequencing Primer
(F):5'- CTGCCATGGAGGAGAAGCC -3'
(R):5'- GTGAAACCTCTTACTCCACTACTG -3'

Posted On

2020-07-28