Mutagenetix > Incidental Mutations

Incidental Mutation 'R4491:Sycp2'

330709

Institutional Source

Beutler Lab

Gene Symbol

Sycp2

Ensembl Gene

ENSMUSG00000060445

Gene Name

synaptonemal complex protein 2

Synonyms

3830402K23Rik, 4930518F03Rik

MMRRC Submission

041747-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4491 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

178345293-178407685 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 178374985 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 608 (T608K)

Ref Sequence

ENSEMBL: ENSMUSP00000079909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081134]

Predicted Effect

probably damaging
Transcript: ENSMUST00000081134
AA Change: T608K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079909
Gene: ENSMUSG00000060445
AA Change: T608K

Domain	Start	End	E-Value	Type
low complexity region	945	960	N/A	INTRINSIC
low complexity region	1006	1019	N/A	INTRINSIC
low complexity region	1076	1091	N/A	INTRINSIC
low complexity region	1195	1204	N/A	INTRINSIC
low complexity region	1273	1293	N/A	INTRINSIC
low complexity region	1355	1364	N/A	INTRINSIC
coiled coil region	1387	1429	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132765

Meta Mutation Damage Score

0.1049

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The synaptonemal complex is a proteinaceous structure that links homologous chromosomes during the prophase of meiosis. The protein encoded by this gene is a major component of the synaptonemal complex and may bind DNA at scaffold attachment regions. The encoded protein requires synaptonemal complex protein 3, but not 1, for inclusion in the synaptonemal complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male mice homozygous for a knock-out allele are sterile due to lack of axial element formation and subsequent failure of chromosome synapsis in prophase I spermatocytes, while females are subfertile with a sharply reduced litter size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	A	5: 63,898,469	P183T	probably damaging	Het
6430573F11Rik	G	A	8: 36,505,606	C70Y	probably damaging	Het
Bcan	G	A	3: 87,990,233	R682*	probably null	Het
Bzw1	T	A	1: 58,404,259	L410Q	probably damaging	Het
Cdh5	A	T	8: 104,113,040	I48F	probably damaging	Het
Cdhr5	T	C	7: 141,274,057	N173D	possibly damaging	Het
Cfap74	T	C	4: 155,429,171	M480T	probably benign	Het
Col6a5	C	T	9: 105,940,012	A367T	unknown	Het
Colca2	A	G	9: 51,270,655	F206L	probably benign	Het
Cpsf1	A	C	15: 76,597,722	Y1064D	possibly damaging	Het
Defb6	A	T	8: 19,228,074	H54L	probably benign	Het
Dmtf1	A	G	5: 9,140,379		probably benign	Het
Dnah12	T	C	14: 26,734,603	L827S	possibly damaging	Het
Dsc3	T	C	18: 20,001,865	T21A	probably benign	Het
Epb41l1	G	T	2: 156,522,168	D866Y	probably benign	Het
Epha1	T	C	6: 42,360,666	M860V	probably damaging	Het
Far2	T	C	6: 148,173,409	L380P	possibly damaging	Het
Fgd5	A	G	6: 91,989,299	I680V	possibly damaging	Het
Fnbp4	T	C	2: 90,752,968		probably null	Het
Focad	G	A	4: 88,359,905		probably null	Het
Gm14180	T	A	11: 99,730,313		probably benign	Het
Hbb-bh2	T	C	7: 103,840,415	T5A	probably benign	Het
Ighv7-2	A	G	12: 113,912,480	F2L	probably benign	Het
Igsf5	A	G	16: 96,364,081	T19A	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Klb	A	G	5: 65,375,794	N482S	probably benign	Het
Lipo2	A	C	19: 33,721,700	L310R	probably damaging	Het
Mc3r	A	G	2: 172,249,203	H115R	possibly damaging	Het
Meioc	A	G	11: 102,674,920	D398G	possibly damaging	Het
Olfr1130	G	A	2: 87,607,392	M1I	probably null	Het
Olfr1353	T	C	10: 78,970,317	S223P	probably damaging	Het
Olfr683	A	T	7: 105,143,776	C172*	probably null	Het
Pds5a	T	C	5: 65,635,437	T718A	probably benign	Het
Pdzd2	C	T	15: 12,385,637	D1016N	possibly damaging	Het
Pla2g2c	T	C	4: 138,734,408		probably null	Het
Plch1	T	C	3: 63,740,739	I404V	probably damaging	Het
Ppp2r5c	A	T	12: 110,580,522	D522V	possibly damaging	Het
Prex2	T	A	1: 11,162,263	S851R	probably benign	Het
Rapgef1	C	T	2: 29,719,656	P702S	possibly damaging	Het
Rasal3	T	A	17: 32,391,385	D976V	probably damaging	Het
Rasef	A	C	4: 73,734,503	L587R	probably damaging	Het
Rptn	A	T	3: 93,396,511	R384*	probably null	Het
Sema6a	G	A	18: 47,306,457		probably benign	Het
Syde1	C	T	10: 78,590,228	R35H	probably benign	Het
Taf1	G	T	X: 101,543,059	M313I	possibly damaging	Het
Taf15	A	T	11: 83,484,694	T31S	probably benign	Het
Tktl2	T	C	8: 66,512,012	V74A	probably damaging	Het
Tle4	A	G	19: 14,454,865	V489A	probably damaging	Het
Tmem30a	T	C	9: 79,777,285	H95R	probably damaging	Het
Vmn1r75	C	A	7: 11,880,982	Q214K	probably damaging	Het
Vps13c	C	T	9: 67,910,193	T1049M	probably benign	Het
Wdr78	T	C	4: 103,066,399	E411G	probably benign	Het
Zfp37	T	C	4: 62,192,128	Q274R	probably benign	Het
Zfp648	T	G	1: 154,205,127	L344R	probably damaging	Het

Other mutations in Sycp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Sycp2	APN	2	178382348	missense	probably damaging	1.00
IGL00578:Sycp2	APN	2	178350822	splice site	probably benign
IGL00646:Sycp2	APN	2	178374459	missense	probably benign	0.00
IGL01309:Sycp2	APN	2	178358111	missense	probably benign	0.15
IGL01464:Sycp2	APN	2	178401632	missense	probably damaging	0.96
IGL01539:Sycp2	APN	2	178374695	missense	probably damaging	1.00
IGL01670:Sycp2	APN	2	178378050	missense	probably benign	0.00
IGL02138:Sycp2	APN	2	178358254	missense	probably benign	0.31
IGL02138:Sycp2	APN	2	178401990	nonsense	probably null
IGL02630:Sycp2	APN	2	178401919	missense	probably damaging	1.00
IGL02673:Sycp2	APN	2	178394211	missense	possibly damaging	0.63
IGL02961:Sycp2	APN	2	178380862	missense	probably benign	0.01
IGL03084:Sycp2	APN	2	178391791	unclassified	probably benign
IGL03123:Sycp2	APN	2	178352479	nonsense	probably null
IGL03167:Sycp2	APN	2	178379498	missense	probably damaging	0.99
R0043:Sycp2	UTSW	2	178364711	missense	probably damaging	1.00
R0050:Sycp2	UTSW	2	178364711	missense	probably damaging	1.00
R0096:Sycp2	UTSW	2	178403735	missense	probably damaging	0.99
R0096:Sycp2	UTSW	2	178403735	missense	probably damaging	0.99
R0310:Sycp2	UTSW	2	178381855	missense	probably benign	0.44
R0363:Sycp2	UTSW	2	178346411	splice site	probably benign
R0456:Sycp2	UTSW	2	178381855	missense	probably benign	0.44
R0597:Sycp2	UTSW	2	178356580	missense	possibly damaging	0.54
R0608:Sycp2	UTSW	2	178382404	missense	probably damaging	0.98
R1112:Sycp2	UTSW	2	178352536	missense	probably benign	0.05
R1127:Sycp2	UTSW	2	178374366	missense	possibly damaging	0.72
R1208:Sycp2	UTSW	2	178356628	missense	possibly damaging	0.92
R1208:Sycp2	UTSW	2	178356628	missense	possibly damaging	0.92
R1323:Sycp2	UTSW	2	178347621	missense	possibly damaging	0.50
R1323:Sycp2	UTSW	2	178347621	missense	possibly damaging	0.50
R1413:Sycp2	UTSW	2	178347797	missense	probably benign	0.00
R1557:Sycp2	UTSW	2	178395216	unclassified	probably benign
R1562:Sycp2	UTSW	2	178382385	missense	probably damaging	1.00
R1585:Sycp2	UTSW	2	178351668	missense	possibly damaging	0.50
R1932:Sycp2	UTSW	2	178381957	missense	probably damaging	1.00
R1950:Sycp2	UTSW	2	178402800	missense	probably benign	0.00
R2001:Sycp2	UTSW	2	178378055	missense	probably benign	0.05
R2105:Sycp2	UTSW	2	178350138	splice site	probably null
R2382:Sycp2	UTSW	2	178378018	critical splice donor site	probably null
R2403:Sycp2	UTSW	2	178403735	nonsense	probably null
R2483:Sycp2	UTSW	2	178374595	missense	probably damaging	0.98
R3003:Sycp2	UTSW	2	178358123	missense	probably benign	0.01
R3418:Sycp2	UTSW	2	178401653	splice site	probably benign
R3686:Sycp2	UTSW	2	178374384	missense	probably benign	0.16
R4038:Sycp2	UTSW	2	178380927	missense	possibly damaging	0.72
R4039:Sycp2	UTSW	2	178380927	missense	possibly damaging	0.72
R4272:Sycp2	UTSW	2	178358224	missense	probably benign	0.04
R4343:Sycp2	UTSW	2	178380947	missense	probably damaging	0.99
R4534:Sycp2	UTSW	2	178355009	missense	probably damaging	1.00
R4720:Sycp2	UTSW	2	178374432	missense	probably benign	0.11
R4805:Sycp2	UTSW	2	178393961	unclassified	probably benign
R4807:Sycp2	UTSW	2	178393961	unclassified	probably benign
R4808:Sycp2	UTSW	2	178393961	unclassified	probably benign
R4906:Sycp2	UTSW	2	178403657	critical splice donor site	probably null
R4910:Sycp2	UTSW	2	178358224	missense	probably benign	0.04
R5282:Sycp2	UTSW	2	178403761	missense	probably damaging	1.00
R5285:Sycp2	UTSW	2	178392398	splice site	probably null
R5316:Sycp2	UTSW	2	178356503	missense	probably benign	0.00
R5389:Sycp2	UTSW	2	178377702	splice site	probably null
R5621:Sycp2	UTSW	2	178381918	missense	probably benign	0.05
R5652:Sycp2	UTSW	2	178358705	splice site	probably null
R5880:Sycp2	UTSW	2	178374470	missense	possibly damaging	0.92
R6114:Sycp2	UTSW	2	178348245	missense	probably benign	0.25
R6115:Sycp2	UTSW	2	178348245	missense	probably benign	0.25
R6186:Sycp2	UTSW	2	178383560	missense	probably damaging	0.97
R6351:Sycp2	UTSW	2	178363416	missense	probably damaging	1.00
R6509:Sycp2	UTSW	2	178395894	missense	probably damaging	1.00
R6536:Sycp2	UTSW	2	178351648	missense	probably damaging	1.00
R6679:Sycp2	UTSW	2	178380928	missense	probably damaging	0.96
R6687:Sycp2	UTSW	2	178354960	missense	probably damaging	0.99
R6761:Sycp2	UTSW	2	178374351	splice site	probably null
R6786:Sycp2	UTSW	2	178383552	missense	possibly damaging	0.63
R7357:Sycp2	UTSW	2	178403804	splice site	probably null
R7422:Sycp2	UTSW	2	178394151	missense	probably damaging	1.00
R7519:Sycp2	UTSW	2	178346333	makesense	probably null
R7805:Sycp2	UTSW	2	178380858	missense	probably damaging	0.99
R7960:Sycp2	UTSW	2	178404660	missense	probably null	0.90
R8022:Sycp2	UTSW	2	178355062	missense	probably damaging	1.00
R8037:Sycp2	UTSW	2	178403778	missense	probably damaging	1.00
R8038:Sycp2	UTSW	2	178403778	missense	probably damaging	1.00
R8039:Sycp2	UTSW	2	178374585	missense	probably benign	0.05
R8159:Sycp2	UTSW	2	178354977	missense	probably damaging	0.97
R8233:Sycp2	UTSW	2	178356634	missense	probably damaging	1.00
R8436:Sycp2	UTSW	2	178362968	missense	probably benign	0.44
R8437:Sycp2	UTSW	2	178364858	missense	probably damaging	1.00
R8528:Sycp2	UTSW	2	178374533	missense	probably damaging	1.00
Z1088:Sycp2	UTSW	2	178374367	missense	probably benign
Z1088:Sycp2	UTSW	2	178381934	missense	probably benign	0.17
Z1176:Sycp2	UTSW	2	178364881	missense	probably damaging	1.00
Z1177:Sycp2	UTSW	2	178380875	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTTTCTTCAGAATCATCATCTG -3'
(R):5'- ACAAAGATGTACTTAGGTATGTACCTG -3'

Sequencing Primer
(F):5'- TTTTTGTTGACACCAGTATCTAGTG -3'
(R):5'- GGTATGTACCTGTGCAGTAACAG -3'

Posted On

2015-07-21