Mutagenetix > Incidental Mutation

Incidental Mutation 'R5482:Syna'

434381

Institutional Source

Beutler Lab

Gene Symbol

Syna

Ensembl Gene

ENSMUSG00000085957

Gene Name

syncytin a

Synonyms

syncytin-A, Gm52

MMRRC Submission

043043-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5482 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134558146-134560171 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134559174 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 307 (L307P)

Ref Sequence

ENSEMBL: ENSMUSP00000116437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000149604]

AlphaFold

Q5G5D5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149604
AA Change: L307P

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116437
Gene: ENSMUSG00000085957
AA Change: L307P

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:TLV_coat	333	578	1.9e-59	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202523

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.9%
3x: 97.4%
10x: 94.5%
20x: 87.6%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: Many different endogenous retrovirus families are expressed in normal placental tissue at high levels, suggesting that endogenous retroviruses are functionally important in reproduction. This gene is part of a mouse endogenous retrovirus provirus on chromosome 5 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product plays a major role in placental development and trophoblast fusion. The protein has the characteristics of a typical retroviral envelope protein, including a cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality between E11.5 and E14.5 associated with defective placental layrinth formation, impaired placental transport, and increased trophoblast cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430573F11Rik	A	T	8: 36,512,049	M269L	probably benign	Het
9230109A22Rik	T	C	15: 25,138,950		noncoding transcript	Het
Abca15	T	C	7: 120,369,147	L801P	probably damaging	Het
Acap3	A	G	4: 155,900,156	D212G	probably benign	Het
Acsl6	G	A	11: 54,327,138	D166N	probably damaging	Het
Acy1	T	C	9: 106,434,639		probably benign	Het
Adgrl3	A	G	5: 81,794,513	N1368S	probably damaging	Het
Akap5	T	C	12: 76,328,826	I344T	probably benign	Het
Aplp1	A	G	7: 30,440,175	F399S	probably damaging	Het
Arap3	A	G	18: 37,974,674	S1302P	possibly damaging	Het
Bik	T	G	15: 83,544,134	V121G	probably damaging	Het
Birc6	A	T	17: 74,641,782	M3069L	possibly damaging	Het
Birc6	A	G	17: 74,662,690	T4237A	probably damaging	Het
Btn2a2	T	C	13: 23,486,387	N59D	probably benign	Het
Cabyr	A	G	18: 12,751,439	S328G	possibly damaging	Het
Cfap57	C	T	4: 118,569,641	G1067R	probably benign	Het
Cryl1	A	T	14: 57,313,012	F132I	probably damaging	Het
Dnah8	G	A	17: 30,800,547	E3865K	probably damaging	Het
Dock3	G	A	9: 106,978,738	R741*	probably null	Het
Fam57b	A	G	7: 126,827,488	T78A	possibly damaging	Het
Fam69a	C	G	5: 107,909,663	C343S	probably damaging	Het
Fsip2	C	T	2: 82,985,310	L3796F	possibly damaging	Het
Gm10722	A	C	9: 3,001,041	Y39S	probably benign	Het
Gm5535	C	A	2: 144,174,572		noncoding transcript	Het
Gmcl1	A	T	6: 86,718,073	M202K	probably damaging	Het
Hecw2	T	A	1: 53,926,201	M489L	probably benign	Het
Lrrk1	A	G	7: 66,330,670	I254T	probably benign	Het
Lrrn3	G	A	12: 41,452,387	L644F	probably benign	Het
Lrrn3	A	C	12: 41,452,388	C643W	probably damaging	Het
Nr2f6	A	T	8: 71,374,538	I373N	probably damaging	Het
Nt5dc3	A	G	10: 86,811,531	Y130C	probably damaging	Het
Olfr1448	T	C	19: 12,919,905	T135A	probably damaging	Het
Olfr788	T	C	10: 129,473,078	Y129H	probably benign	Het
Otogl	T	A	10: 107,821,941	I1043F	probably damaging	Het
Padi3	G	A	4: 140,795,843	T302I	probably damaging	Het
Pcdhgb5	A	G	18: 37,731,532	N127D	probably damaging	Het
Pign	A	G	1: 105,546,710	F876L	probably benign	Het
Pip5k1c	A	G	10: 81,293,063	E2G	probably damaging	Het
Ppp1r18	G	A	17: 35,873,879	E141K	probably damaging	Het
Ralbp1	A	C	17: 65,861,568	Y247*	probably null	Het
Ripply2	A	G	9: 87,015,567	E8G	possibly damaging	Het
Rufy3	TAAGCA	TA	5: 88,637,332		probably null	Het
Skint2	T	G	4: 112,625,879	C160W	probably damaging	Het
Sun2	C	T	15: 79,737,511	R172Q	probably benign	Het
Trappc12	T	C	12: 28,691,325	K795R	probably damaging	Het
Ttll11	A	G	2: 35,752,406	S638P	probably damaging	Het
Usp2	G	A	9: 44,089,183		probably null	Het
Vmn2r26	A	T	6: 124,061,326	E620V	possibly damaging	Het
Wdr36	A	T	18: 32,841,904	H103L	probably benign	Het
Wnt5b	T	C	6: 119,446,431	T78A	probably benign	Het
Zc2hc1b	C	T	10: 13,153,526	R146Q	probably damaging	Het

Other mutations in Syna

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Syna	APN	5	134559717	missense	possibly damaging	0.94
IGL01128:Syna	APN	5	134559480	missense	probably damaging	0.99
IGL03183:Syna	APN	5	134558290	missense	probably benign	0.03
R0051:Syna	UTSW	5	134559543	missense	probably damaging	1.00
R0051:Syna	UTSW	5	134559543	missense	probably damaging	0.99
R0137:Syna	UTSW	5	134559460	missense	possibly damaging	0.93
R0920:Syna	UTSW	5	134559102	missense	probably benign	0.12
R1525:Syna	UTSW	5	134559258	missense	probably benign
R1801:Syna	UTSW	5	134560089	missense	probably benign	0.02
R1813:Syna	UTSW	5	134559152	missense	probably benign	0.06
R1866:Syna	UTSW	5	134559915	missense	probably damaging	1.00
R1887:Syna	UTSW	5	134559252	missense	probably benign
R1896:Syna	UTSW	5	134559152	missense	probably benign	0.06
R2139:Syna	UTSW	5	134559252	nonsense	probably null
R3896:Syna	UTSW	5	134558311	nonsense	probably null
R4674:Syna	UTSW	5	134558355	missense	probably damaging	0.99
R4730:Syna	UTSW	5	134558586	missense	probably damaging	1.00
R5124:Syna	UTSW	5	134559570	missense	possibly damaging	0.65
R6130:Syna	UTSW	5	134558268	missense	possibly damaging	0.72
R6196:Syna	UTSW	5	134559612	missense	probably benign	0.14
R6243:Syna	UTSW	5	134560114	start gained	probably benign
R6945:Syna	UTSW	5	134558961	missense	probably damaging	0.97
R7999:Syna	UTSW	5	134559192	missense	probably benign
R8320:Syna	UTSW	5	134559720	missense	possibly damaging	0.86
R8783:Syna	UTSW	5	134559869	missense	probably benign	0.01
R8784:Syna	UTSW	5	134559869	missense	probably benign	0.01
R8785:Syna	UTSW	5	134559869	missense	probably benign	0.01
R8786:Syna	UTSW	5	134559869	missense	probably benign	0.01
R8787:Syna	UTSW	5	134559869	missense	probably benign	0.01
X0022:Syna	UTSW	5	134559573	missense	probably benign	0.01
Z1088:Syna	UTSW	5	134558529	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TACAGACGCCGGACCAATTG -3'
(R):5'- GCCCGATAGATGACATCCACTG -3'

Sequencing Primer
(F):5'- CATAAGTTGAGTTTCCACAGAGG -3'
(R):5'- GATAGATGACATCCACTGCCACAC -3'

Posted On

2016-10-06