Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03167:Sycp2'

411674

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sycp2

Ensembl Gene

ENSMUSG00000060445

Gene Name

synaptonemal complex protein 2

Synonyms

3830402K23Rik, 4930518F03Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03167

Quality Score

Status

Chromosome

Chromosomal Location

178345293-178407685 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 178379498 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 512 (K512E)

Ref Sequence

ENSEMBL: ENSMUSP00000079909 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000081134
AA Change: K512E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079909
Gene: ENSMUSG00000060445
AA Change: K512E

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

Coding Region Coverage

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	A	C	6: 34,857,659	K921T	possibly damaging	Het
Agtpbp1	A	T	13: 59,532,080		probably benign	Het
Ankrd22	A	T	19: 34,165,774	M1K	probably null	Het
Ano5	G	A	7: 51,585,511	V698I	probably damaging	Het
Ccnh	A	G	13: 85,197,566		probably benign	Het
Col15a1	A	T	4: 47,282,635	I771F	probably damaging	Het
Dmrt1	T	C	19: 25,545,893	S203P	possibly damaging	Het
Exoc5	A	T	14: 49,051,345	V82E	probably damaging	Het
Ffar3	A	T	7: 30,855,355	V180E	probably damaging	Het
Fhad1	T	C	4: 141,972,797	S381G	probably benign	Het
Foxf1	C	A	8: 121,084,908	Y170*	probably null	Het
Glis1	A	G	4: 107,435,905	D75G	possibly damaging	Het
Gpr151	T	C	18: 42,578,374	H413R	probably benign	Het
Gtf3c1	T	C	7: 125,670,580		probably null	Het
Htt	T	A	5: 34,818,986	F711I	probably damaging	Het
Il1rapl1	A	G	X: 86,747,261	I691T	possibly damaging	Het
Iqgap2	T	C	13: 95,684,898	Y579C	probably benign	Het
Lingo3	A	G	10: 80,835,344	S251P	probably damaging	Het
Mbl1	T	A	14: 41,158,586	S144T	probably benign	Het
Musk	A	T	4: 58,366,821	R462W	possibly damaging	Het
Mynn	T	C	3: 30,609,042	L373P	probably damaging	Het
Myoz2	G	A	3: 123,006,490	R230*	probably null	Het
Nup35	A	G	2: 80,658,316		probably benign	Het
Olfr1032	T	A	2: 86,008,167	Y130*	probably null	Het
Olfr305	C	T	7: 86,363,920	C139Y	probably damaging	Het
Olfr710	A	G	7: 106,944,645	S119P	probably damaging	Het
Olfr987	C	T	2: 85,331,320	D193N	probably benign	Het
Pira2	A	T	7: 3,840,920	S618T	probably damaging	Het
Plch1	G	A	3: 63,722,744		probably benign	Het
Pparg	T	G	6: 115,473,227	F396V	probably damaging	Het
Scaper	T	C	9: 55,859,824	E441G	probably damaging	Het
Serpinb2	T	A	1: 107,522,755	C161S	probably benign	Het
Skint5	C	T	4: 113,893,850	E333K	unknown	Het
Slc22a8	C	T	19: 8,609,958	P461S	probably damaging	Het
Slc38a6	C	T	12: 73,350,537	Q318*	probably null	Het
Tas2r103	T	A	6: 133,036,660	N148Y	probably damaging	Het
Tcf7l1	A	G	6: 72,632,996	M257T	possibly damaging	Het
Tert	T	A	13: 73,640,000	N792K	probably damaging	Het
Thada	A	T	17: 84,458,849	V43E	probably damaging	Het
Trabd2b	T	C	4: 114,609,998	S475P	probably benign	Het
Vmn2r117	A	G	17: 23,477,707	V242A	probably damaging	Het
Ypel3	A	T	7: 126,780,075	I107F	probably damaging	Het
Zfp352	T	C	4: 90,224,702	S360P	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
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
R4491:Sycp2	UTSW	2	178374985	missense	probably damaging	1.00
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
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
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

Posted On

2016-08-02