Mutagenetix > Incidental Mutation

Incidental Mutation 'R0134:Esyt2'

21836

Institutional Source

Beutler Lab

Gene Symbol

Esyt2

Ensembl Gene

ENSMUSG00000021171

Gene Name

extended synaptotagmin-like protein 2

Synonyms

2310058N22Rik, D12Ertd551e, 2410017M09Rik, Fam62b, 4921504I16Rik

MMRRC Submission

038419-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0134 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

116244816-116354670 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116331330 bp (GRCm39)

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: 99.0%
3x: 98.2%
10x: 96.4%
20x: 93.3%

Validation Efficiency

100% (59/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	C	19: 21,575,565 (GRCm39)		probably benign	Het
Abca16	T	A	7: 120,139,378 (GRCm39)	L1470Q	probably damaging	Het
Arhgap23	G	T	11: 97,335,154 (GRCm39)	V70L	probably benign	Het
Bicd1	T	C	6: 149,414,448 (GRCm39)	I387T	probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Cd59b	G	A	2: 103,909,286 (GRCm39)		probably null	Het
Ddx50	A	T	10: 62,457,156 (GRCm39)		probably benign	Het
Dele1	G	A	18: 38,394,317 (GRCm39)	V505I	probably benign	Het
Dnlz	T	C	2: 26,241,380 (GRCm39)	N116S	probably damaging	Het
Efcab14	T	C	4: 115,597,728 (GRCm39)	F108L	probably damaging	Het
Exoc4	A	G	6: 33,948,881 (GRCm39)	D908G	possibly damaging	Het
Garnl3	T	C	2: 32,896,816 (GRCm39)	T608A	possibly damaging	Het
Hdac2	T	A	10: 36,865,180 (GRCm39)	D131E	probably benign	Het
Hes1	T	C	16: 29,886,068 (GRCm39)	V224A	probably damaging	Het
Hps1	G	T	19: 42,754,619 (GRCm39)	Q277K	probably damaging	Het
Ighv15-2	T	G	12: 114,528,657 (GRCm39)		probably benign	Het
Il3	A	G	11: 54,156,506 (GRCm39)		probably null	Het
Itgae	A	C	11: 73,002,168 (GRCm39)	M91L	probably benign	Het
Kctd21	T	A	7: 96,997,298 (GRCm39)	I257N	probably benign	Het
Kif16b	A	T	2: 142,514,295 (GRCm39)	S1215T	probably benign	Het
Lhx9	A	T	1: 138,766,417 (GRCm39)	C124S	probably damaging	Het
Lipo4	A	G	19: 33,479,006 (GRCm39)	V278A	probably benign	Het
Lrp1b	T	C	2: 40,486,995 (GRCm39)	E142G	probably damaging	Het
Macf1	T	C	4: 123,326,636 (GRCm39)	M2835V	possibly damaging	Het
Map9	G	A	3: 82,267,290 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,218,657 (GRCm39)		probably benign	Het
Mndal	A	T	1: 173,685,079 (GRCm39)		probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nepn	A	T	10: 52,276,533 (GRCm39)	T29S	probably damaging	Het
Nlgn1	C	T	3: 25,490,089 (GRCm39)	C546Y	probably damaging	Het
Or14a260	A	G	7: 85,984,803 (GRCm39)	I267T	probably benign	Het
Or8k53	T	C	2: 86,178,072 (GRCm39)	I13V	possibly damaging	Het
Pdgfra	A	G	5: 75,327,172 (GRCm39)	D123G	probably damaging	Het
Plekhn1	T	C	4: 156,312,700 (GRCm39)	R53G	probably benign	Het
Pnp2	T	C	14: 51,200,634 (GRCm39)	F100S	probably damaging	Het
Prickle1	A	G	15: 93,408,658 (GRCm39)	L47P	possibly damaging	Het
Ptar1	T	A	19: 23,695,459 (GRCm39)	C309S	probably benign	Het
Rimoc1	T	C	15: 4,015,776 (GRCm39)	K263E	probably damaging	Het
Rxfp1	A	G	3: 79,564,783 (GRCm39)	S327P	probably damaging	Het
Siah2	A	G	3: 58,583,536 (GRCm39)	V250A	probably damaging	Het
Siglecg	G	A	7: 43,060,595 (GRCm39)	G325D	probably damaging	Het
Slc10a7	T	A	8: 79,423,787 (GRCm39)		probably null	Het
Slc9a1	A	G	4: 133,147,916 (GRCm39)	K645E	probably benign	Het
Smarca4	T	C	9: 21,548,620 (GRCm39)	L302P	probably damaging	Het
Smyd1	G	T	6: 71,193,749 (GRCm39)	T392N	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tenm3	A	T	8: 49,127,507 (GRCm39)	L57Q	probably damaging	Het
Tep1	C	T	14: 51,067,150 (GRCm39)	V2269I	possibly damaging	Het
Tpd52l1	A	G	10: 31,255,252 (GRCm39)	S32P	probably damaging	Het
Tsfm	A	G	10: 126,858,798 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,540,468 (GRCm39)	R34173W	probably damaging	Het
Ttn	C	A	2: 76,623,474 (GRCm39)	V15368L	possibly damaging	Het
Vmn2r13	C	A	5: 109,322,915 (GRCm39)	V125L	probably benign	Het
Vps13b	T	C	15: 35,887,407 (GRCm39)	I3272T	probably benign	Het
Zfp108	A	G	7: 23,959,892 (GRCm39)	H161R	probably benign	Het
Zfp518b	A	G	5: 38,832,002 (GRCm39)	M1T	probably null	Het

Other mutations in Esyt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Esyt2	APN	12	116,327,064 (GRCm39)	missense	probably damaging	1.00
IGL01636:Esyt2	APN	12	116,329,550 (GRCm39)	critical splice donor site	probably null
IGL01912:Esyt2	APN	12	116,303,229 (GRCm39)	missense	probably damaging	1.00
IGL02310:Esyt2	APN	12	116,329,541 (GRCm39)	missense	probably benign	0.06
PIT4802001:Esyt2	UTSW	12	116,329,457 (GRCm39)	missense	probably benign	0.00
R0225:Esyt2	UTSW	12	116,331,330 (GRCm39)	missense	probably damaging	0.98
R0313:Esyt2	UTSW	12	116,311,428 (GRCm39)	missense	probably damaging	1.00
R0532:Esyt2	UTSW	12	116,320,818 (GRCm39)	splice site	probably benign
R2324:Esyt2	UTSW	12	116,331,441 (GRCm39)	missense	possibly damaging	0.50
R4610:Esyt2	UTSW	12	116,282,510 (GRCm39)	missense	probably damaging	0.99
R4898:Esyt2	UTSW	12	116,305,708 (GRCm39)	missense	probably benign	0.06
R4918:Esyt2	UTSW	12	116,287,760 (GRCm39)	missense	probably benign	0.30
R5052:Esyt2	UTSW	12	116,331,416 (GRCm39)	missense	probably damaging	1.00
R5222:Esyt2	UTSW	12	116,282,446 (GRCm39)	missense	probably damaging	1.00
R5800:Esyt2	UTSW	12	116,333,808 (GRCm39)	missense	possibly damaging	0.94
R6499:Esyt2	UTSW	12	116,284,790 (GRCm39)	missense	probably damaging	0.98
R6607:Esyt2	UTSW	12	116,332,360 (GRCm39)	missense	probably benign	0.18
R6951:Esyt2	UTSW	12	116,287,750 (GRCm39)	missense	probably benign	0.21
R7153:Esyt2	UTSW	12	116,310,128 (GRCm39)	missense	probably benign	0.00
R7173:Esyt2	UTSW	12	116,327,154 (GRCm39)	missense	probably benign	0.05
R7227:Esyt2	UTSW	12	116,305,745 (GRCm39)	missense	probably damaging	1.00
R7248:Esyt2	UTSW	12	116,305,858 (GRCm39)	missense	probably damaging	1.00
R7509:Esyt2	UTSW	12	116,329,496 (GRCm39)	missense	probably damaging	1.00
R7780:Esyt2	UTSW	12	116,305,718 (GRCm39)	missense	probably benign	0.15
R8077:Esyt2	UTSW	12	116,305,848 (GRCm39)	missense	possibly damaging	0.54
R8136:Esyt2	UTSW	12	116,327,079 (GRCm39)	missense	probably benign
R8264:Esyt2	UTSW	12	116,329,540 (GRCm39)	missense	probably benign	0.00
R8350:Esyt2	UTSW	12	116,327,102 (GRCm39)	missense	probably damaging	0.99
R8450:Esyt2	UTSW	12	116,327,102 (GRCm39)	missense	probably damaging	0.99
R9330:Esyt2	UTSW	12	116,305,765 (GRCm39)	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

2013-04-12