Mutagenetix > Incidental Mutation

Incidental Mutation 'R7063:Sypl2'

548383

Institutional Source

Beutler Lab

Gene Symbol

Sypl2

Ensembl Gene

ENSMUSG00000027887

Gene Name

synaptophysin like 2

Synonyms

Mg29

MMRRC Submission

045159-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7063 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108119582-108133915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108124971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 130 (M130K)

Ref Sequence

ENSEMBL: ENSMUSP00000116756 (fasta)

Gene Model

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

AlphaFold

O89104

Predicted Effect

probably benign
Transcript: ENSMUST00000141387
AA Change: M130K

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116756
Gene: ENSMUSG00000027887
AA Change: M130K

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

Meta Mutation Damage Score

0.5012

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (43/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap35	A	G	7: 16,299,038 (GRCm39)	V9A	probably benign	Het
Btbd6	A	G	12: 112,941,132 (GRCm39)	Y148C	probably damaging	Het
Casr	T	C	16: 36,314,936 (GRCm39)	I968V	probably benign	Het
Celf1	T	C	2: 90,843,189 (GRCm39)		probably null	Het
Chst2	G	T	9: 95,287,621 (GRCm39)	R242S	probably benign	Het
Clca3a1	T	A	3: 144,460,967 (GRCm39)	D228V	probably damaging	Het
Cwf19l2	A	G	9: 3,430,532 (GRCm39)	Y288C	probably benign	Het
Cyp2r1	A	G	7: 114,152,184 (GRCm39)	S49P	probably damaging	Het
Dnah5	A	G	15: 28,233,394 (GRCm39)	E251G	probably benign	Het
Eepd1	A	G	9: 25,394,332 (GRCm39)	R199G	possibly damaging	Het
Fat1	C	T	8: 45,493,812 (GRCm39)	T3986I	probably benign	Het
Gbp4	G	A	5: 105,266,314 (GRCm39)	R576C	probably damaging	Het
Glp1r	A	G	17: 31,144,532 (GRCm39)	Y235C	probably damaging	Het
Gm6408	T	C	5: 146,420,594 (GRCm39)	I158T	probably benign	Het
Gpr89	C	G	3: 96,783,014 (GRCm39)	R312P	probably damaging	Het
Idh2	A	G	7: 79,745,432 (GRCm39)	V403A	probably damaging	Het
Lclat1	A	G	17: 73,546,986 (GRCm39)	E301G	possibly damaging	Het
Lgmn	A	G	12: 102,368,937 (GRCm39)	Y181H	probably damaging	Het
Lgr5	T	C	10: 115,292,639 (GRCm39)	Y417C	probably damaging	Het
Man1a	G	T	10: 53,906,840 (GRCm39)	N311K	probably damaging	Het
Nat10	G	A	2: 103,578,422 (GRCm39)	L228F	probably benign	Het
Or10d3	T	G	9: 39,461,411 (GRCm39)	Y252S	possibly damaging	Het
Or10v5	A	G	19: 11,805,548 (GRCm39)	F281L	probably damaging	Het
Or5b12b	A	G	19: 12,861,449 (GRCm39)	D68G	probably damaging	Het
Or5p55	C	A	7: 107,567,411 (GRCm39)	A269E	probably benign	Het
Pcmtd2	T	A	2: 181,496,776 (GRCm39)	Y130*	probably null	Het
Potefam3f	G	A	8: 20,479,013 (GRCm39)	C7Y		Het
Qrfprl	A	G	6: 65,418,387 (GRCm39)		probably benign	Het
Rapgef5	A	G	12: 117,652,864 (GRCm39)	D62G	possibly damaging	Het
Serpina3m	A	T	12: 104,357,726 (GRCm39)	I217L	probably benign	Het
Supt16	T	C	14: 52,409,505 (GRCm39)	R802G	possibly damaging	Het
Tmtc2	A	T	10: 105,184,386 (GRCm39)	L503Q	probably damaging	Het
Ubald2	A	G	11: 116,325,443 (GRCm39)	Q60R	probably benign	Het
Vav1	C	T	17: 57,618,860 (GRCm39)	Q673*	probably null	Het
Vgll2	T	C	10: 51,904,072 (GRCm39)	S312P	probably benign	Het
Vmn1r191	C	T	13: 22,362,864 (GRCm39)	A297T	probably benign	Het
Vmn1r7	T	A	6: 57,001,418 (GRCm39)	I281F	possibly damaging	Het
Vmn2r108	T	C	17: 20,701,410 (GRCm39)	Y30C	probably damaging	Het
Vmn2r16	A	G	5: 109,511,650 (GRCm39)	N619S	probably damaging	Het
Vstm5	A	G	9: 15,150,549 (GRCm39)		probably benign	Het
Zfp7	A	G	15: 76,775,919 (GRCm39)	I654V	possibly damaging	Het
Zmat2	A	G	18: 36,929,627 (GRCm39)	N129S	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
R4089: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
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'- TCCCACACATAGGCATCAGG -3'
(R):5'- ACATGACTCCTTTCCCAGGGTG -3'

Sequencing Primer
(F):5'- TCAGGACTCAGGGAAACTATTAC -3'
(R):5'- CGGACAGGAGCCCCTATTG -3'

Posted On

2019-05-13