Mutagenetix > Incidental Mutation

Incidental Mutation 'R4089:Sypl2'

317499

Institutional Source

Beutler Lab

Gene Symbol

Sypl2

Ensembl Gene

ENSMUSG00000027887

Gene Name

synaptophysin like 2

Synonyms

Mg29

MMRRC Submission

040982-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4089 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108119582-108133915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108124992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 123 (I123T)

Ref Sequence

ENSEMBL: ENSMUSP00000116756 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000141387]

AlphaFold

O89104

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141387
AA Change: I123T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116756
Gene: ENSMUSG00000027887
AA Change: I123T

Domain	Start	End	E-Value	Type
low complexity region	9	65	N/A	INTRINSIC
Pfam:MARVEL	107	309	7.2e-41	PFAM
low complexity region	318	326	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156371

Meta Mutation Damage Score

0.2995

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (51/52)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile, but exhibit reduced body weight, abnormal skeletal muscle membranes and irregular skeletal muscle contractility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
A530064D06Rik	A	G	17: 48,473,678 (GRCm39)	S80P	probably damaging	Het
Acss3	T	G	10: 106,889,313 (GRCm39)	Y169S	probably damaging	Het
Actr5	T	C	2: 158,467,022 (GRCm39)		probably benign	Het
Arhgef17	T	A	7: 100,533,006 (GRCm39)	E1173V	probably damaging	Het
Brca1	T	C	11: 101,415,002 (GRCm39)	N1044S	possibly damaging	Het
Cap1	A	G	4: 122,756,202 (GRCm39)	V398A	probably benign	Het
Cbs	A	C	17: 31,851,980 (GRCm39)	C8G	probably benign	Het
Csmd1	T	A	8: 16,042,738 (GRCm39)	I2332F	probably damaging	Het
Ddx4	A	G	13: 112,750,295 (GRCm39)	V386A	probably benign	Het
Dip2a	T	C	10: 76,114,323 (GRCm39)		probably null	Het
Dock9	A	T	14: 121,820,883 (GRCm39)	C1494S	probably damaging	Het
Ehbp1	A	T	11: 22,045,898 (GRCm39)	L592Q	possibly damaging	Het
Fbn2	C	T	18: 58,186,841 (GRCm39)	D1687N	probably benign	Het
Flt1	C	A	5: 147,501,051 (GRCm39)	L1327F	probably benign	Het
Frem3	T	C	8: 81,341,802 (GRCm39)	F1365S	probably damaging	Het
Gigyf2	A	G	1: 87,371,394 (GRCm39)	E1169G	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm14443	T	C	2: 175,013,685 (GRCm39)	Y29C	probably damaging	Het
Gpr108	A	G	17: 57,544,925 (GRCm39)	Y313H	probably damaging	Het
Ifngr1	T	C	10: 19,477,233 (GRCm39)		probably null	Het
Il31ra	C	T	13: 112,688,453 (GRCm39)	W41*	probably null	Het
Ints4	T	A	7: 97,178,462 (GRCm39)	Y687*	probably null	Het
Jpt2	A	G	17: 25,175,076 (GRCm39)	S37P	probably benign	Het
Kcnk9	A	G	15: 72,418,112 (GRCm39)	V6A	probably benign	Het
Lamc3	C	T	2: 31,810,520 (GRCm39)	R797*	probably null	Het
Lrig1	A	G	6: 94,586,840 (GRCm39)	I612T	possibly damaging	Het
Mapk4	C	A	18: 74,063,530 (GRCm39)	C564F	probably damaging	Het
Marveld2	T	A	13: 100,736,988 (GRCm39)	H215L	probably benign	Het
Mindy3	T	C	2: 12,369,327 (GRCm39)	M84V	probably benign	Het
Nek3	T	C	8: 22,639,929 (GRCm39)	D182G	probably damaging	Het
Or10ak7	C	T	4: 118,791,230 (GRCm39)	E272K	probably benign	Het
Pkp3	G	A	7: 140,664,056 (GRCm39)	R411H	probably damaging	Het
Plau	A	G	14: 20,891,134 (GRCm39)	D366G	probably damaging	Het
Prkd3	A	G	17: 79,278,817 (GRCm39)	M423T	possibly damaging	Het
Prmt9	A	T	8: 78,299,174 (GRCm39)	I623L	probably benign	Het
Rgs6	A	T	12: 83,110,261 (GRCm39)	E175D	probably damaging	Het
Rnf135	G	A	11: 80,089,872 (GRCm39)	G403S	probably damaging	Het
Scn11a	C	T	9: 119,624,719 (GRCm39)		probably null	Het
Snap23	C	T	2: 120,414,856 (GRCm39)		probably benign	Het
Sos1	A	G	17: 80,756,781 (GRCm39)	V257A	probably benign	Het
Sox10	C	T	15: 79,040,563 (GRCm39)	V165M	possibly damaging	Het
Tex14	A	G	11: 87,403,029 (GRCm39)	D533G	probably damaging	Het
Topbp1	T	C	9: 103,201,700 (GRCm39)		probably null	Het
Trim30d	T	C	7: 104,137,007 (GRCm39)	N66D	probably damaging	Het
Trim65	G	A	11: 116,017,305 (GRCm39)	Q386*	probably null	Het
Trip4	A	G	9: 65,765,565 (GRCm39)	V378A	probably benign	Het
Vmn2r115	A	C	17: 23,565,358 (GRCm39)	Q415P	probably benign	Het
Washc2	A	T	6: 116,233,253 (GRCm39)		probably null	Het

Other mutations in Sypl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Sypl2	APN	3	108,133,742 (GRCm39)	start gained	probably benign
R0147:Sypl2	UTSW	3	108,126,411 (GRCm39)	missense	possibly damaging	0.91
R0148:Sypl2	UTSW	3	108,126,411 (GRCm39)	missense	possibly damaging	0.91
R0381:Sypl2	UTSW	3	108,133,473 (GRCm39)	missense	possibly damaging	0.57
R0512:Sypl2	UTSW	3	108,133,486 (GRCm39)	missense	possibly damaging	0.51
R0751:Sypl2	UTSW	3	108,124,072 (GRCm39)	missense	probably damaging	0.98
R1279:Sypl2	UTSW	3	108,124,990 (GRCm39)	missense	probably damaging	1.00
R3411:Sypl2	UTSW	3	108,124,045 (GRCm39)	missense	possibly damaging	0.94
R4085:Sypl2	UTSW	3	108,124,992 (GRCm39)	missense	possibly damaging	0.94
R4086:Sypl2	UTSW	3	108,124,992 (GRCm39)	missense	possibly damaging	0.94
R4088:Sypl2	UTSW	3	108,124,992 (GRCm39)	missense	possibly damaging	0.94
R4090:Sypl2	UTSW	3	108,124,992 (GRCm39)	missense	possibly damaging	0.94
R7063:Sypl2	UTSW	3	108,124,971 (GRCm39)	missense	probably benign	0.31
R7571:Sypl2	UTSW	3	108,121,854 (GRCm39)	makesense	probably null
R7980:Sypl2	UTSW	3	108,125,008 (GRCm39)	missense	probably damaging	1.00
R8364:Sypl2	UTSW	3	108,125,050 (GRCm39)	missense	possibly damaging	0.62
R8558:Sypl2	UTSW	3	108,125,004 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATAGGCATCAGGACTCAGG -3'
(R):5'- CTACATGACTCCTTTCCCAGGG -3'

Sequencing Primer
(F):5'- GGGAAACTATTACTTTTGATCGCCC -3'
(R):5'- ACTCCTTTCCCAGGGTGAGC -3'

Posted On

2015-05-15