Mutagenetix > Incidental Mutation

Incidental Mutation 'R8077:Esyt2'

629101

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

067511-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116244816-116354670 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116305848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 359 (S359R)

Ref Sequence

ENSEMBL: ENSMUSP00000098548 (fasta)

Gene Model

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

AlphaFold

Q3TZZ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100986
AA Change: S359R

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000098548
Gene: ENSMUSG00000021171
AA Change: S359R

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 benign
Transcript: ENSMUST00000220804

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220816
AA Change: S359R

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.3287

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 95.4%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,467,237 (GRCm39)	V132E	probably benign	Het
4930563M21Rik	C	T	9: 55,895,250 (GRCm39)	V315M	probably damaging	Het
Aadacl4fm1	T	C	4: 144,255,126 (GRCm39)	I182T	probably benign	Het
Alb	G	C	5: 90,615,214 (GRCm39)	R242P	probably damaging	Het
Amotl1	A	T	9: 14,461,798 (GRCm39)	V805D	probably damaging	Het
Arhgef3	T	C	14: 27,107,881 (GRCm39)	L179P	probably damaging	Het
Atp8b3	G	A	10: 80,366,858 (GRCm39)	L247F	possibly damaging	Het
Ccdc191	T	C	16: 43,735,968 (GRCm39)		probably null	Het
Celsr3	A	G	9: 108,705,530 (GRCm39)	H671R	probably benign	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Cfap97	G	T	8: 46,623,482 (GRCm39)	V291F	possibly damaging	Het
Clca3a2	A	G	3: 144,777,288 (GRCm39)	V861A	possibly damaging	Het
Cln8	A	T	8: 14,944,950 (GRCm39)	D88V	probably damaging	Het
Col18a1	C	A	10: 76,916,685 (GRCm39)	G330V	unknown	Het
Dis3	C	T	14: 99,327,471 (GRCm39)	R344Q	probably benign	Het
Fbxo41	A	T	6: 85,450,211 (GRCm39)	L844Q	probably damaging	Het
Fn1	G	A	1: 71,651,761 (GRCm39)	T1372M	probably damaging	Het
Gbp5	G	A	3: 142,213,500 (GRCm39)	R472H	probably benign	Het
Gm4559	C	T	7: 141,827,553 (GRCm39)	R183K	unknown	Het
Gm9507	T	A	10: 77,647,604 (GRCm39)	E25V	unknown	Het
Golgb1	A	G	16: 36,738,995 (GRCm39)	I2486V	probably damaging	Het
Ifitm10	A	T	7: 141,924,704 (GRCm39)	V45D	probably damaging	Het
Ift80	A	G	3: 68,823,478 (GRCm39)	Y595H	probably benign	Het
Itga8	C	T	2: 12,247,244 (GRCm39)	V326I	probably benign	Het
Kif14	A	T	1: 136,399,186 (GRCm39)	H449L	possibly damaging	Het
Klrh1	A	G	6: 129,743,658 (GRCm39)	Y209H	probably benign	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lrrc8b	C	A	5: 105,627,883 (GRCm39)	S76R	possibly damaging	Het
Lrrn1	T	C	6: 107,545,783 (GRCm39)	L527P	probably damaging	Het
Luc7l	T	C	17: 26,474,047 (GRCm39)	V35A	probably damaging	Het
Luzp1	T	G	4: 136,270,402 (GRCm39)	V875G	probably damaging	Het
Mcf2l	G	T	8: 13,048,494 (GRCm39)		probably null	Het
Mcoln2	T	C	3: 145,896,169 (GRCm39)	M497T	probably damaging	Het
Mrgprb4	A	T	7: 47,848,203 (GRCm39)	S242T	probably benign	Het
Muc21	TCAGTGGTGGTCAGGATGGGGGTAGAGCCTGAGCCACTCCTGGATGCAGTGGTGGTCAGG	TCAGTGGTGGTCAGG	17: 35,930,628 (GRCm39)		probably benign	Het
Nipbl	T	A	15: 8,340,734 (GRCm39)	R1995S	possibly damaging	Het
Nup35	A	G	2: 80,469,280 (GRCm39)		probably null	Het
Or13a17	C	T	7: 140,271,046 (GRCm39)	S76F	probably benign	Het
Or2o1	A	G	11: 49,051,312 (GRCm39)	D157G	probably damaging	Het
Or6k2	A	G	1: 173,979,411 (GRCm39)		probably benign	Het
Prdm12	A	G	2: 31,532,316 (GRCm39)	K109E	probably damaging	Het
Ptch1	A	T	13: 63,688,626 (GRCm39)	L444Q	probably damaging	Het
Qtrt1	C	T	9: 21,331,392 (GRCm39)	R374*	probably null	Het
Rnase11	T	C	14: 51,287,398 (GRCm39)	D52G	probably damaging	Het
Rps6	A	G	4: 86,774,158 (GRCm39)	S148P	probably benign	Het
Rrm2b	T	C	15: 37,947,044 (GRCm39)	K86E	possibly damaging	Het
Sh2d1b2	A	G	1: 170,075,742 (GRCm39)	K59E	possibly damaging	Het
Six6	T	A	12: 72,987,100 (GRCm39)	W91R	probably damaging	Het
Slc23a2	C	A	2: 131,931,092 (GRCm39)	A136S	possibly damaging	Het
Slc9a5	G	A	8: 106,086,012 (GRCm39)	R593H	probably damaging	Het
Smbd1	T	C	16: 32,630,804 (GRCm39)	M1V	probably null	Het
Ssbp4	T	C	8: 71,051,647 (GRCm39)	Y239C	probably damaging	Het
Stox1	T	C	10: 62,501,345 (GRCm39)	E405G	probably damaging	Het
Tle7	C	T	8: 110,836,735 (GRCm39)	T207M	probably damaging	Het
Tmem192	A	G	8: 65,418,196 (GRCm39)	I194V	probably benign	Het
Tns3	A	T	11: 8,395,667 (GRCm39)	C1246S	probably damaging	Het
Ugt1a6a	A	T	1: 88,066,575 (GRCm39)	Q127L	probably benign	Het
Ush2a	A	G	1: 188,275,025 (GRCm39)	I1833V	probably benign	Het
Vmn2r66	A	T	7: 84,656,093 (GRCm39)	Y308N	probably benign	Het
Vti1a	T	G	19: 55,564,917 (GRCm39)	L191R	probably benign	Het
Zbtb38	A	T	9: 96,570,153 (GRCm39)	N310K	probably benign	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
R0134:Esyt2	UTSW	12	116,331,330 (GRCm39)	missense	probably damaging	0.98
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
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'- AACGGTCAGTGGTTTGTTCC -3'
(R):5'- GCCTTACGTAACCATTGCTTAAAAC -3'

Sequencing Primer
(F):5'- CTCTCTTCAGGGTGTCCTAAGG -3'
(R):5'- GCTCACATTACAAGATTGTTCTGTGG -3'

Posted On

2020-06-30