Mutagenetix > Incidental Mutation

Incidental Mutation 'R3977:Sycp2l'

311087

Institutional Source

Beutler Lab

Gene Symbol

Sycp2l

Ensembl Gene

ENSMUSG00000038651

Gene Name

synaptonemal complex protein 2-like

Synonyms

Gm40956, LOC218175, EG621792

MMRRC Submission

040940-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R3977 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41267895-41327827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41295440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 334 (I334M)

Ref Sequence

ENSEMBL: ENSMUSP00000115127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124093]

AlphaFold

A0A0M3U1B0

Predicted Effect

probably damaging
Transcript: ENSMUST00000124093
AA Change: I334M

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

96% (50/52)

MGI Phenotype

PHENOTYPE: Female mice homozygous for a knock-out allele exhibit early reproductive senescence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	C	T	11: 105,872,664 (GRCm39)	P942L	possibly damaging	Het
Adam28	A	G	14: 68,848,443 (GRCm39)	V671A	probably benign	Het
Arfgef1	A	G	1: 10,279,859 (GRCm39)	V236A	probably benign	Het
B020004C17Rik	G	T	14: 57,254,645 (GRCm39)	M156I	possibly damaging	Het
Bicral	T	A	17: 47,141,917 (GRCm39)	M1L	unknown	Het
Brpf3	A	G	17: 29,026,016 (GRCm39)	E363G	possibly damaging	Het
Ccdc96	T	C	5: 36,642,510 (GRCm39)	L172P	possibly damaging	Het
Cln3	G	A	7: 126,179,308 (GRCm39)		probably benign	Het
Dnah7c	T	C	1: 46,668,071 (GRCm39)	I1526T	possibly damaging	Het
Entr1	T	A	2: 26,274,805 (GRCm39)	N364I	probably damaging	Het
Fmo3	T	G	1: 162,786,147 (GRCm39)	E281A	probably damaging	Het
Frem2	A	G	3: 53,559,491 (GRCm39)	I1672T	probably benign	Het
Gbp2b	A	G	3: 142,309,470 (GRCm39)	I194V	probably benign	Het
Gprc6a	C	A	10: 51,497,197 (GRCm39)	V449L	probably benign	Het
Hk1	A	G	10: 62,126,098 (GRCm39)	V396A	probably benign	Het
Hoxc13	T	C	15: 102,829,675 (GRCm39)	V18A	possibly damaging	Het
Hr	A	G	14: 70,801,024 (GRCm39)	T699A	probably benign	Het
Il19	A	T	1: 130,863,770 (GRCm39)	C74S	probably damaging	Het
Krt1c	T	C	15: 101,719,562 (GRCm39)	T703A	unknown	Het
Lrig2	A	T	3: 104,365,160 (GRCm39)	V664E	probably damaging	Het
Lrrc37a	T	C	11: 103,348,430 (GRCm39)	K2755R	unknown	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mbtd1	A	G	11: 93,796,001 (GRCm39)	N13D	probably benign	Het
Mfsd4b5	T	C	10: 39,850,704 (GRCm39)		probably benign	Het
Nras	A	G	3: 102,967,541 (GRCm39)	I46V	probably benign	Het
Oasl1	C	T	5: 115,070,957 (GRCm39)	T274I	probably damaging	Het
Ogfod2	C	A	5: 124,251,272 (GRCm39)		probably null	Het
Or10q3	C	A	19: 11,847,869 (GRCm39)	R237L	possibly damaging	Het
Or10v1	T	A	19: 11,873,880 (GRCm39)	F165Y	probably damaging	Het
Or11a4	T	C	17: 37,536,049 (GRCm39)	V11A	probably benign	Het
Or2w1b	T	A	13: 21,300,031 (GRCm39)	H56Q	probably benign	Het
Or4c3	C	A	2: 89,852,089 (GRCm39)	G107V	probably damaging	Het
Or6c5	C	T	10: 129,074,377 (GRCm39)	R120C	probably damaging	Het
Pkmyt1	A	G	17: 23,954,305 (GRCm39)	M362V	probably benign	Het
Ppfia2	A	G	10: 106,666,490 (GRCm39)	T399A	possibly damaging	Het
Ppp1r12b	A	G	1: 134,693,713 (GRCm39)	S983P	probably benign	Het
Ptpn22	A	G	3: 103,780,957 (GRCm39)		probably benign	Het
Raph1	A	T	1: 60,537,682 (GRCm39)	D491E	probably benign	Het
Rc3h1	A	G	1: 160,786,969 (GRCm39)		probably null	Het
Rtn4	T	C	11: 29,643,819 (GRCm39)	L5P	probably benign	Het
Slc23a4	C	T	6: 34,930,723 (GRCm39)	V400I	probably benign	Het
Slco1a5	A	G	6: 142,204,698 (GRCm39)		probably benign	Het
Smpd1	T	C	7: 105,205,108 (GRCm39)	F329S	probably benign	Het
Tas2r103	A	G	6: 133,013,280 (GRCm39)	L262P	probably benign	Het
Ten1	G	A	11: 116,107,771 (GRCm39)		probably null	Het
Tfap2d	C	G	1: 19,174,718 (GRCm39)	S57C	possibly damaging	Het
Tnr	A	G	1: 159,719,593 (GRCm39)	M957V	probably benign	Het
Trbv13-3	A	G	6: 41,107,079 (GRCm39)		probably benign	Het
Trp53rkb	C	T	2: 166,637,446 (GRCm39)	A134V	possibly damaging	Het
Trp63	A	G	16: 25,639,490 (GRCm39)		probably benign	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r74	T	C	7: 85,607,345 (GRCm39)	Y126C	probably benign	Het
Vmn2r96	T	A	17: 18,817,941 (GRCm39)	I698N	probably damaging	Het

Other mutations in Sycp2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4531001:Sycp2l	UTSW	13	41,300,148 (GRCm39)	missense	probably null	0.00
R0016:Sycp2l	UTSW	13	41,310,976 (GRCm39)	intron	probably benign
R0024:Sycp2l	UTSW	13	41,295,264 (GRCm39)	missense	probably damaging	1.00
R0024:Sycp2l	UTSW	13	41,295,264 (GRCm39)	missense	probably damaging	1.00
R0099:Sycp2l	UTSW	13	41,283,001 (GRCm39)	splice site	probably benign
R0471:Sycp2l	UTSW	13	41,304,006 (GRCm39)	splice site	probably null
R0582:Sycp2l	UTSW	13	41,291,431 (GRCm39)	splice site	probably benign
R0605:Sycp2l	UTSW	13	41,296,942 (GRCm39)	missense	probably benign	0.22
R1311:Sycp2l	UTSW	13	41,288,661 (GRCm39)	nonsense	probably null
R1999:Sycp2l	UTSW	13	41,271,780 (GRCm39)	missense	probably benign	0.11
R3115:Sycp2l	UTSW	13	41,302,274 (GRCm39)	missense	probably benign	0.41
R3979:Sycp2l	UTSW	13	41,295,440 (GRCm39)	missense	probably damaging	0.99
R4643:Sycp2l	UTSW	13	41,296,941 (GRCm39)	missense	probably benign	0.01
R5027:Sycp2l	UTSW	13	41,283,247 (GRCm39)	critical splice acceptor site	probably null
R5037:Sycp2l	UTSW	13	41,283,337 (GRCm39)	missense	possibly damaging	0.89
R5780:Sycp2l	UTSW	13	41,282,976 (GRCm39)	missense	possibly damaging	0.61
R6216:Sycp2l	UTSW	13	41,295,200 (GRCm39)	missense	probably damaging	1.00
R7035:Sycp2l	UTSW	13	41,310,973 (GRCm39)	missense	unknown
R7179:Sycp2l	UTSW	13	41,283,258 (GRCm39)	missense	probably damaging	1.00
R7267:Sycp2l	UTSW	13	41,300,070 (GRCm39)	missense	possibly damaging	0.69
R7470:Sycp2l	UTSW	13	41,316,580 (GRCm39)	missense	probably benign	0.01
R7593:Sycp2l	UTSW	13	41,326,192 (GRCm39)	missense	probably damaging	1.00
R8030:Sycp2l	UTSW	13	41,326,146 (GRCm39)	missense	not run
R8218:Sycp2l	UTSW	13	41,271,544 (GRCm39)	missense	probably damaging	1.00
R8303:Sycp2l	UTSW	13	41,283,275 (GRCm39)	missense	probably damaging	1.00
R8503:Sycp2l	UTSW	13	41,306,952 (GRCm39)	missense
R8504:Sycp2l	UTSW	13	41,291,390 (GRCm39)	missense	probably damaging	1.00
R8942:Sycp2l	UTSW	13	41,277,522 (GRCm39)	critical splice donor site	probably null
R9096:Sycp2l	UTSW	13	41,300,070 (GRCm39)	missense	possibly damaging	0.69
R9097:Sycp2l	UTSW	13	41,300,070 (GRCm39)	missense	possibly damaging	0.69
R9653:Sycp2l	UTSW	13	41,295,381 (GRCm39)	missense	probably benign	0.01
R9689:Sycp2l	UTSW	13	41,295,256 (GRCm39)	missense	probably damaging	1.00
R9713:Sycp2l	UTSW	13	41,326,183 (GRCm39)	missense	probably damaging	0.99
R9729:Sycp2l	UTSW	13	41,326,132 (GRCm39)	missense
R9763:Sycp2l	UTSW	13	41,306,232 (GRCm39)	missense
Z1177:Sycp2l	UTSW	13	41,300,058 (GRCm39)	missense	possibly damaging	0.84
Z1177:Sycp2l	UTSW	13	41,267,840 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGAGGTAACCAGGGTTCATTC -3'
(R):5'- TCAATTCCCATTCAGAGAAGCC -3'

Sequencing Primer
(F):5'- GGTTCATTCCCCAGCAGAC -3'
(R):5'- TCTGGACACATGGCTCAAAG -3'

Posted On

2015-04-29