Mutagenetix > Incidental Mutations

Incidental Mutation 'R8022:Sycp2'

617420

Institutional Source

Beutler Lab

Gene Symbol

Sycp2

Ensembl Gene

ENSMUSG00000060445

Gene Name

synaptonemal complex protein 2

Synonyms

3830402K23Rik, 4930518F03Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

178345293-178407685 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 178355062 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1116 (L1116P)

Ref Sequence

ENSEMBL: ENSMUSP00000079909 (fasta)

Gene Model

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

AlphaFold

Q9CUU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000081134
AA Change: L1116P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079909
Gene: ENSMUSG00000060445
AA Change: L1116P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,223,854	T1386S	probably benign	Het
AI661453	T	G	17: 47,466,236	S296A	unknown	Het
Ambp	G	T	4: 63,144,197	N268K	probably damaging	Het
Ankrd11	T	C	8: 122,887,593	K2503E	probably damaging	Het
Ap1g1	C	A	8: 109,832,735	R221S	possibly damaging	Het
Ap5z1	T	C	5: 142,470,149		probably null	Het
Aspa	A	C	11: 73,322,206	N103K	probably benign	Het
BC049730	T	A	7: 24,714,174	I205N	possibly damaging	Het
Bend7	G	A	2: 4,752,779	V211I	probably benign	Het
Bsn	A	G	9: 108,114,404	M1383T	probably benign	Het
Cad	G	T	5: 31,068,806	V1117F	probably damaging	Het
Cdh2	A	G	18: 16,590,301	L856S	probably damaging	Het
Cdh7	T	A	1: 110,061,108	S247T	probably benign	Het
Ces1b	A	G	8: 93,069,315		probably null	Het
Chd7	T	A	4: 8,751,605	V34E	unknown	Het
Clca3a2	A	T	3: 144,805,766	F623I	probably damaging	Het
Cope	T	G	8: 70,312,803	M217R	probably benign	Het
Crim1	T	A	17: 78,315,555	I394N	possibly damaging	Het
Crnkl1	A	T	2: 145,918,566	I644N	probably damaging	Het
Cry1	G	A	10: 85,146,402	A360V	probably damaging	Het
Ctcfl	A	T	2: 173,118,766	V8D	probably benign	Het
Cyp2d34	G	A	15: 82,616,114	Q475*	probably null	Het
Cyp39a1	T	C	17: 43,746,577	Y436H	probably damaging	Het
Cyp3a25	T	A	5: 145,977,668	Q484L	probably benign	Het
Dnah1	A	G	14: 31,265,014	F3607S	probably damaging	Het
Dnali1	T	A	4: 125,065,530	K23N	possibly damaging	Het
Ecel1	T	C	1: 87,153,330	I313V	probably benign	Het
Ehhadh	C	A	16: 21,777,820	A53S	probably benign	Het
Epcam	T	C	17: 87,646,308	S277P	probably benign	Het
Fbxo10	T	C	4: 45,062,062	I155V	possibly damaging	Het
Fgd6	A	T	10: 94,044,344	K353N	possibly damaging	Het
Glce	A	T	9: 62,060,591	M426K	probably benign	Het
Glmp	A	T	3: 88,326,520	N228I	probably damaging	Het
Gm4787	C	A	12: 81,377,720	V555F	possibly damaging	Het
Gm5114	T	A	7: 39,409,376	H273L	probably benign	Het
Gzmg	T	A	14: 56,157,446	T122S	probably benign	Het
Hace1	T	C	10: 45,700,970	V820A	probably damaging	Het
Igf2r	T	A	17: 12,718,795	D535V	probably damaging	Het
Kcnd3	A	G	3: 105,458,873	M20V	probably benign	Het
Kcnn3	T	G	3: 89,609,703	I473S	possibly damaging	Het
Klhl35	T	A	7: 99,473,239	F94Y	unknown	Het
Kmt2c	C	T	5: 25,281,680	V4712I	possibly damaging	Het
Lepr	A	G	4: 101,782,557	E740G	probably benign	Het
Lmod3	T	C	6: 97,248,299	D187G	probably benign	Het
Lsm3	C	T	6: 91,519,561	H49Y	probably benign	Het
Magi1	T	C	6: 93,697,365	S962G	probably damaging	Het
Man2b1	G	A	8: 85,095,613	R782Q	probably damaging	Het
Mical2	A	T	7: 112,303,767	K148N	probably damaging	Het
Nbeal1	C	T	1: 60,260,272	Q1256*	probably null	Het
Ncam1	G	T	9: 49,564,892	A299D	possibly damaging	Het
Ncapg	A	G	5: 45,681,794	D512G	probably damaging	Het
Nkiras2	A	G	11: 100,624,287	N28D	probably benign	Het
Nprl2	A	C	9: 107,543,061	K53T	probably damaging	Het
Nr4a3	T	A	4: 48,051,510	I88N	probably damaging	Het
Oas3	A	G	5: 120,756,966	I986T	possibly damaging	Het
Olfr809	A	T	10: 129,776,785	L305F	possibly damaging	Het
Pcsk1	A	T	13: 75,099,293	Y187F	possibly damaging	Het
Pgc	A	G	17: 47,728,776	T32A	probably benign	Het
Ranbp2	A	C	10: 58,485,861	D2660A	possibly damaging	Het
Retreg1	A	G	15: 25,843,479	R46G		Het
Rrbp1	C	A	2: 143,956,792	K1100N	probably benign	Het
Rsph10b	A	T	5: 143,967,232	T676S	probably benign	Het
Setdb1	A	T	3: 95,338,599	F672I	probably damaging	Het
Setdb1	T	A	3: 95,347,085	D195V	probably damaging	Het
Slc12a8	A	G	16: 33,625,086	E450G	probably benign	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc25a12	A	T	2: 71,275,189	V667E	unknown	Het
Slc39a3	T	C	10: 81,031,277	T212A	probably benign	Het
Slc45a1	C	T	4: 150,638,309	G373S	possibly damaging	Het
Snx11	G	A	11: 96,772,854	T53M	probably damaging	Het
Snx33	A	G	9: 56,925,340	F482L	possibly damaging	Het
Srebf2	C	T	15: 82,178,765	R468C	probably damaging	Het
Stk32a	C	T	18: 43,315,101	Q382*	probably null	Het
Sun3	C	A	11: 9,023,376	S167I	probably damaging	Het
Thbs4	T	G	13: 92,752,447	T913P	probably damaging	Het
Trav8d-1	C	T	14: 52,778,827	Q57*	probably null	Het
Trio	C	G	15: 27,749,866	V2250L	probably benign	Het
Unc119b	A	T	5: 115,127,043	I204N	probably damaging	Het
Usp4	A	G	9: 108,378,471	E576G	probably damaging	Het
Uvssa	T	A	5: 33,409,504	L515Q	probably damaging	Het
Xkr8	T	C	4: 132,732,338	Y43C	probably damaging	Het
Xpo6	G	A	7: 126,169,254	L94F	probably benign	Het
Zbtb11	A	G	16: 56,006,020	K804R	probably damaging	Het
Zfp616	A	G	11: 74,084,068	R479G	probably benign	Het
Zfp661	T	C	2: 127,577,924	T99A	probably benign	Het
Zfp839	A	T	12: 110,855,098	Q115H	probably damaging	Het
Zyg11a	C	T	4: 108,189,568		probably null	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
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
R7960:Sycp2	UTSW	2	178404660	missense	probably null	0.90
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
R8679:Sycp2	UTSW	2	178350975	missense	probably damaging	0.99
R8711:Sycp2	UTSW	2	178348295	missense	probably benign	0.41
R8843:Sycp2	UTSW	2	178348259	missense	probably damaging	0.99
R9044:Sycp2	UTSW	2	178347824	missense	probably damaging	1.00
R9067:Sycp2	UTSW	2	178347421	critical splice donor site	probably null
R9203:Sycp2	UTSW	2	178355113	missense	probably damaging	1.00
R9263:Sycp2	UTSW	2	178394138	missense	probably damaging	1.00
R9301:Sycp2	UTSW	2	178381857	missense	probably benign	0.00
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
Z1191:Sycp2	UTSW	2	178350869	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CACGTTCAGATGCATACGATAAAAG -3'
(R):5'- CCAACTGACTTTGTAAAACCTCTC -3'

Sequencing Primer
(F):5'- CATTGCACTGGTCTCACT -3'
(R):5'- TGAAAGTTCTAAATTTTCAATTGGGC -3'

Posted On

2020-01-23