Mutagenetix > Incidental Mutation

Incidental Mutation 'R9763:Sycp2l'

735829

Institutional Source

Beutler Lab

Gene Symbol

Sycp2l

Ensembl Gene

ENSMUSG00000038651

Gene Name

synaptonemal complex protein 2-like

Synonyms

Gm40956, LOC218175, EG621792

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9763 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41267895-41327827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41306232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 84 (S84T)

Gene Model

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

AlphaFold

A0A0M3U1B0

Predicted Effect

probably benign
Transcript: ENSMUST00000124093
AA Change: S539T

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

SMART Domains

Protein: ENSMUSP00000121296
Gene: ENSMUSG00000038651
AA Change: S84T

Domain	Start	End	E-Value	Type
low complexity region	69	83	N/A	INTRINSIC
low complexity region	171	182	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,302,717 (GRCm39)	D2167E	possibly damaging	Het
Acadsb	T	A	7: 131,045,327 (GRCm39)	Y420N	probably benign	Het
Adcy1	T	A	11: 7,014,126 (GRCm39)	L176Q	probably damaging	Het
Amdhd1	T	A	10: 93,367,398 (GRCm39)	K252M	possibly damaging	Het
Aspa	C	A	11: 73,213,094 (GRCm39)	E83*	probably null	Het
Atat1	A	G	17: 36,220,899 (GRCm39)	L10P	probably damaging	Het
Ccdc141	T	A	2: 76,869,919 (GRCm39)	N862I	probably damaging	Het
Cdkal1	A	T	13: 29,809,692 (GRCm39)	C217*	probably null	Het
Cttnbp2	C	T	6: 18,435,240 (GRCm39)	S206N	probably benign	Het
Dner	A	T	1: 84,361,656 (GRCm39)	I651N	possibly damaging	Het
Efcab3	G	A	11: 104,890,485 (GRCm39)	G4189E	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Ercc6l2	T	C	13: 63,982,438 (GRCm39)	V91A	probably damaging	Het
Gask1a	A	G	9: 121,805,421 (GRCm39)	D404G	probably damaging	Het
Gm13941	A	G	2: 110,931,518 (GRCm39)	L38S	unknown	Het
Golph3l	G	A	3: 95,517,085 (GRCm39)	E198K	possibly damaging	Het
Hecw2	A	C	1: 53,963,074 (GRCm39)	D812E	probably damaging	Het
Ikzf2	T	A	1: 69,587,835 (GRCm39)	E212V	possibly damaging	Het
Il6st	C	T	13: 112,627,051 (GRCm39)	S281F	probably damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,743,057 (GRCm39)		probably benign	Het
Krt71	T	G	15: 101,646,757 (GRCm39)	K317T	probably damaging	Het
Lgi4	T	C	7: 30,760,020 (GRCm39)	F72S	probably damaging	Het
Map3k1	C	T	13: 111,912,499 (GRCm39)	R174H	probably damaging	Het
Marveld3	T	A	8: 110,688,375 (GRCm39)	H122L	probably benign	Het
Mrgprb2	A	G	7: 48,202,174 (GRCm39)	S184P	probably benign	Het
Mylk	G	T	16: 34,699,482 (GRCm39)	G282*	probably null	Het
Myo16	T	A	8: 10,450,528 (GRCm39)	M510K	unknown	Het
Naip5	C	G	13: 100,367,269 (GRCm39)	A276P	probably damaging	Het
Or10a3	T	A	7: 108,480,874 (GRCm39)		probably benign	Het
Or10a3n	T	G	7: 108,493,210 (GRCm39)	I140L	probably benign	Het
Or3a1d	T	C	11: 74,238,041 (GRCm39)	Y3C	probably damaging	Het
Or4e5	T	G	14: 52,728,307 (GRCm39)	Y38S	probably damaging	Het
Or8j3	A	T	2: 86,028,181 (GRCm39)	M305K	probably benign	Het
Or9g20	T	G	2: 85,630,060 (GRCm39)	N185H	possibly damaging	Het
Pdzrn4	T	C	15: 92,668,376 (GRCm39)	Y843H	probably damaging	Het
Prkca	A	G	11: 107,903,867 (GRCm39)	V242A	possibly damaging	Het
Rbbp8	A	T	18: 11,865,261 (GRCm39)	M717L	probably benign	Het
Rnf150	T	C	8: 83,732,968 (GRCm39)	S272P	probably benign	Het
Rtraf	A	G	14: 19,866,314 (GRCm39)	V134A	probably damaging	Het
Rubcnl	T	A	14: 75,287,108 (GRCm39)	L592*	probably null	Het
Slc23a1	A	G	18: 35,755,364 (GRCm39)	S484P	probably damaging	Het
Slmap	A	G	14: 26,204,118 (GRCm39)	Y68H	probably damaging	Het
Speer4b	C	A	5: 27,705,206 (GRCm39)	V56L	probably damaging	Het
Syne1	T	C	10: 5,007,858 (GRCm39)	D122G	probably benign	Het
Timd2	G	T	11: 46,573,540 (GRCm39)	P155T	probably benign	Het
Topbp1	G	A	9: 103,223,923 (GRCm39)	R1401Q	probably benign	Het
Trim36	C	A	18: 46,309,125 (GRCm39)	D312Y	probably benign	Het
Vps13c	A	G	9: 67,818,860 (GRCm39)	T1094A	probably benign	Het
Vwa8	T	A	14: 79,186,988 (GRCm39)	Y465N	probably damaging	Het
Zfpm1	T	C	8: 123,062,531 (GRCm39)	L530P	probably damaging	Het
Zmynd10	A	T	9: 107,425,965 (GRCm39)	T100S	probably benign	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
R3977:Sycp2l	UTSW	13	41,295,440 (GRCm39)	missense	probably damaging	0.99
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
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'- GTTTAGTATACGCGCGCACAC -3'
(R):5'- TCTCAGGTGTTACAGGGAAGGAC -3'

Sequencing Primer
(F):5'- CACACATGTGCATGCGTTG -3'
(R):5'- CAAGACCACATATTTCCTGGGTATC -3'

Posted On

2022-11-14