Mutagenetix > Incidental Mutation

Incidental Mutation 'R8711:Sycp2'

669554

Institutional Source

Beutler Lab

Gene Symbol

Sycp2

Ensembl Gene

ENSMUSG00000060445

Gene Name

synaptonemal complex protein 2

Synonyms

3830402K23Rik, 4930518F03Rik

MMRRC Submission

068565-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8711 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

177987086-178049478 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 177990088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1386 (V1386A)

Ref Sequence

ENSEMBL: ENSMUSP00000079909 (fasta)

Gene Model

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

AlphaFold

Q9CUU3

Predicted Effect

probably benign
Transcript: ENSMUST00000081134
AA Change: V1386A

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000079909
Gene: ENSMUSG00000060445
AA Change: V1386A

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: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	A	8: 60,969,120 (GRCm39)	S122T	probably benign	Het
Abcb11	G	A	2: 69,095,856 (GRCm39)	T828I	probably damaging	Het
Atp5f1b	T	A	10: 127,921,369 (GRCm39)	N222K	probably damaging	Het
C1qbp	T	C	11: 70,869,313 (GRCm39)	T211A	probably benign	Het
Ccdc85a	A	T	11: 28,384,146 (GRCm39)	S410T	possibly damaging	Het
Chd4	T	A	6: 125,100,485 (GRCm39)		probably benign	Het
Col10a1	G	T	10: 34,270,824 (GRCm39)	K265N	probably damaging	Het
Cyp2j5	A	T	4: 96,529,660 (GRCm39)	M237K	possibly damaging	Het
Cyp4f40	T	C	17: 32,894,962 (GRCm39)		probably benign	Het
Cytip	A	T	2: 58,041,135 (GRCm39)	F90L	probably damaging	Het
Dnah7b	A	G	1: 46,214,598 (GRCm39)	D1121G	probably damaging	Het
Dohh	G	T	10: 81,221,859 (GRCm39)	E84D	probably benign	Het
Efcab3	A	G	11: 104,743,371 (GRCm39)	I2187V	probably benign	Het
Eif1ad19	T	A	12: 87,740,130 (GRCm39)	D143V	unknown	Het
Eif4g2	T	C	7: 110,673,127 (GRCm39)	Y855C	probably damaging	Het
Ell	T	A	8: 71,034,331 (GRCm39)		probably benign	Het
Ermap	T	C	4: 119,044,355 (GRCm39)	Y147C	probably damaging	Het
Fasn	T	C	11: 120,709,944 (GRCm39)	D371G	possibly damaging	Het
Fat2	A	G	11: 55,159,129 (GRCm39)	S3348P	probably benign	Het
Fhad1	T	A	4: 141,684,924 (GRCm39)	N472Y	probably benign	Het
Flad1	A	G	3: 89,316,415 (GRCm39)	V49A	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,554 (GRCm39)	T196A	probably benign	Het
Fsip2	A	G	2: 82,815,246 (GRCm39)	N3660D	possibly damaging	Het
Gabrp	T	A	11: 33,505,023 (GRCm39)	L259F	probably damaging	Het
Gm16686	A	T	4: 88,673,473 (GRCm39)	W119R	unknown	Het
Gng2	C	T	14: 19,941,438 (GRCm39)	M1I	probably null	Het
Hmgxb3	T	C	18: 61,290,721 (GRCm39)	N384S	probably benign	Het
Ibtk	T	C	9: 85,606,208 (GRCm39)	I440V	probably benign	Het
Il11ra1	A	G	4: 41,767,539 (GRCm39)	D297G	probably damaging	Het
Irf2bpl	T	C	12: 86,928,496 (GRCm39)	I726V	probably benign	Het
Klk1b5	A	G	7: 43,867,996 (GRCm39)	N56S	probably benign	Het
Laptm4b	T	A	15: 34,277,648 (GRCm39)	V193E	probably damaging	Het
Lrrc37a	A	T	11: 103,388,350 (GRCm39)	C2358*	probably null	Het
Ltbp2	C	T	12: 84,900,515 (GRCm39)	S269N	probably benign	Het
Morc2a	T	G	11: 3,630,013 (GRCm39)	Y450D	probably damaging	Het
Mycbp2	A	T	14: 103,407,430 (GRCm39)	I2740K	probably benign	Het
Naif1	T	A	2: 32,344,848 (GRCm39)	V184E	probably damaging	Het
Neurl1b	T	C	17: 26,660,747 (GRCm39)	V540A	probably damaging	Het
Nt5c1b	T	A	12: 10,431,450 (GRCm39)	F451Y	probably damaging	Het
Obox3	A	G	7: 15,360,148 (GRCm39)	S174P	probably benign	Het
Obscn	T	C	11: 58,951,894 (GRCm39)	E3953G	probably damaging	Het
Or4a74	A	C	2: 89,440,291 (GRCm39)	S52A	probably benign	Het
Or4p19	A	T	2: 88,242,595 (GRCm39)	C136S	probably damaging	Het
Pkd1l1	G	A	11: 8,815,550 (GRCm39)	H1904Y		Het
Plec	C	T	15: 76,059,531 (GRCm39)	D3469N	probably benign	Het
Polr1b	A	G	2: 128,943,064 (GRCm39)	T20A	probably damaging	Het
Ppp1r16b	G	A	2: 158,603,286 (GRCm39)	E404K	possibly damaging	Het
Prkce	T	A	17: 86,795,625 (GRCm39)	N287K	probably damaging	Het
Rchy1	C	A	5: 92,105,397 (GRCm39)	C108F	probably damaging	Het
Scpppq1	G	A	5: 104,219,956 (GRCm39)	T78I	unknown	Het
Sema6d	A	G	2: 124,502,232 (GRCm39)	Y572C	possibly damaging	Het
Sh3rf1	T	A	8: 61,783,030 (GRCm39)	I248K	probably damaging	Het
Sin3b	T	C	8: 73,450,026 (GRCm39)	L30P	probably damaging	Het
Slc25a47	G	A	12: 108,820,313 (GRCm39)	G106S	probably damaging	Het
Slc43a2	A	C	11: 75,457,879 (GRCm39)	M385L	probably benign	Het
Slc43a3	A	G	2: 84,768,671 (GRCm39)	T97A	probably damaging	Het
Slc9b2	T	A	3: 135,030,351 (GRCm39)	S223T	probably benign	Het
Smc5	A	T	19: 23,243,058 (GRCm39)	C118S	probably damaging	Het
Smpdl3b	T	C	4: 132,472,491 (GRCm39)	D94G	probably damaging	Het
Spred3	A	G	7: 28,866,086 (GRCm39)	V71A	possibly damaging	Het
Srsf5	T	A	12: 80,994,328 (GRCm39)	S86T	possibly damaging	Het
Syne2	T	C	12: 76,104,258 (GRCm39)	L743P	probably damaging	Het
Synj1	A	G	16: 90,806,971 (GRCm39)	V62A	probably damaging	Het
Tbc1d9b	T	C	11: 50,047,578 (GRCm39)	L637P	probably damaging	Het
Tcf12	T	G	9: 71,757,097 (GRCm39)	S697R	possibly damaging	Het
Tnfrsf11b	T	A	15: 54,123,508 (GRCm39)	Y31F	possibly damaging	Het
Trav5n-4	T	C	14: 53,550,362 (GRCm39)	M1T	probably null	Het
Trbv13-2	A	G	6: 41,098,716 (GRCm39)	E97G	probably benign	Het
Trpa1	G	A	1: 14,980,998 (GRCm39)	P135S	probably damaging	Het
Ugt1a6a	A	C	1: 88,066,590 (GRCm39)	D132A	possibly damaging	Het
Vmn2r8	A	T	5: 108,945,962 (GRCm39)	D548E	possibly damaging	Het
Zbtb39	A	T	10: 127,578,815 (GRCm39)	D463V	probably damaging	Het
Zc3h12c	C	T	9: 52,037,858 (GRCm39)		probably benign	Het
Zfp952	C	T	17: 33,222,004 (GRCm39)	P161L	possibly damaging	Het

Other mutations in Sycp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Sycp2	APN	2	178,024,141 (GRCm39)	missense	probably damaging	1.00
IGL00578:Sycp2	APN	2	177,992,615 (GRCm39)	splice site	probably benign
IGL00646:Sycp2	APN	2	178,016,252 (GRCm39)	missense	probably benign	0.00
IGL01309:Sycp2	APN	2	177,999,904 (GRCm39)	missense	probably benign	0.15
IGL01464:Sycp2	APN	2	178,043,425 (GRCm39)	missense	probably damaging	0.96
IGL01539:Sycp2	APN	2	178,016,488 (GRCm39)	missense	probably damaging	1.00
IGL01670:Sycp2	APN	2	178,019,843 (GRCm39)	missense	probably benign	0.00
IGL02138:Sycp2	APN	2	178,043,783 (GRCm39)	nonsense	probably null
IGL02138:Sycp2	APN	2	178,000,047 (GRCm39)	missense	probably benign	0.31
IGL02630:Sycp2	APN	2	178,043,712 (GRCm39)	missense	probably damaging	1.00
IGL02673:Sycp2	APN	2	178,036,004 (GRCm39)	missense	possibly damaging	0.63
IGL02961:Sycp2	APN	2	178,022,655 (GRCm39)	missense	probably benign	0.01
IGL03084:Sycp2	APN	2	178,033,584 (GRCm39)	unclassified	probably benign
IGL03123:Sycp2	APN	2	177,994,272 (GRCm39)	nonsense	probably null
IGL03167:Sycp2	APN	2	178,021,291 (GRCm39)	missense	probably damaging	0.99
R0043:Sycp2	UTSW	2	178,006,504 (GRCm39)	missense	probably damaging	1.00
R0050:Sycp2	UTSW	2	178,006,504 (GRCm39)	missense	probably damaging	1.00
R0096:Sycp2	UTSW	2	178,045,528 (GRCm39)	missense	probably damaging	0.99
R0096:Sycp2	UTSW	2	178,045,528 (GRCm39)	missense	probably damaging	0.99
R0310:Sycp2	UTSW	2	178,023,648 (GRCm39)	missense	probably benign	0.44
R0363:Sycp2	UTSW	2	177,988,204 (GRCm39)	splice site	probably benign
R0456:Sycp2	UTSW	2	178,023,648 (GRCm39)	missense	probably benign	0.44
R0597:Sycp2	UTSW	2	177,998,373 (GRCm39)	missense	possibly damaging	0.54
R0608:Sycp2	UTSW	2	178,024,197 (GRCm39)	missense	probably damaging	0.98
R1112:Sycp2	UTSW	2	177,994,329 (GRCm39)	missense	probably benign	0.05
R1127:Sycp2	UTSW	2	178,016,159 (GRCm39)	missense	possibly damaging	0.72
R1208:Sycp2	UTSW	2	177,998,421 (GRCm39)	missense	possibly damaging	0.92
R1208:Sycp2	UTSW	2	177,998,421 (GRCm39)	missense	possibly damaging	0.92
R1323:Sycp2	UTSW	2	177,989,414 (GRCm39)	missense	possibly damaging	0.50
R1323:Sycp2	UTSW	2	177,989,414 (GRCm39)	missense	possibly damaging	0.50
R1413:Sycp2	UTSW	2	177,989,590 (GRCm39)	missense	probably benign	0.00
R1557:Sycp2	UTSW	2	178,037,009 (GRCm39)	unclassified	probably benign
R1562:Sycp2	UTSW	2	178,024,178 (GRCm39)	missense	probably damaging	1.00
R1585:Sycp2	UTSW	2	177,993,461 (GRCm39)	missense	possibly damaging	0.50
R1932:Sycp2	UTSW	2	178,023,750 (GRCm39)	missense	probably damaging	1.00
R1950:Sycp2	UTSW	2	178,044,593 (GRCm39)	missense	probably benign	0.00
R2001:Sycp2	UTSW	2	178,019,848 (GRCm39)	missense	probably benign	0.05
R2105:Sycp2	UTSW	2	177,991,931 (GRCm39)	splice site	probably null
R2382:Sycp2	UTSW	2	178,019,811 (GRCm39)	critical splice donor site	probably null
R2403:Sycp2	UTSW	2	178,045,528 (GRCm39)	nonsense	probably null
R2483:Sycp2	UTSW	2	178,016,388 (GRCm39)	missense	probably damaging	0.98
R3003:Sycp2	UTSW	2	177,999,916 (GRCm39)	missense	probably benign	0.01
R3418:Sycp2	UTSW	2	178,043,446 (GRCm39)	splice site	probably benign
R3686:Sycp2	UTSW	2	178,016,177 (GRCm39)	missense	probably benign	0.16
R4038:Sycp2	UTSW	2	178,022,720 (GRCm39)	missense	possibly damaging	0.72
R4039:Sycp2	UTSW	2	178,022,720 (GRCm39)	missense	possibly damaging	0.72
R4272:Sycp2	UTSW	2	178,000,017 (GRCm39)	missense	probably benign	0.04
R4343:Sycp2	UTSW	2	178,022,740 (GRCm39)	missense	probably damaging	0.99
R4491:Sycp2	UTSW	2	178,016,778 (GRCm39)	missense	probably damaging	1.00
R4534:Sycp2	UTSW	2	177,996,802 (GRCm39)	missense	probably damaging	1.00
R4720:Sycp2	UTSW	2	178,016,225 (GRCm39)	missense	probably benign	0.11
R4805:Sycp2	UTSW	2	178,035,754 (GRCm39)	unclassified	probably benign
R4807:Sycp2	UTSW	2	178,035,754 (GRCm39)	unclassified	probably benign
R4808:Sycp2	UTSW	2	178,035,754 (GRCm39)	unclassified	probably benign
R4906:Sycp2	UTSW	2	178,045,450 (GRCm39)	critical splice donor site	probably null
R4910:Sycp2	UTSW	2	178,000,017 (GRCm39)	missense	probably benign	0.04
R5282:Sycp2	UTSW	2	178,045,554 (GRCm39)	missense	probably damaging	1.00
R5285:Sycp2	UTSW	2	178,034,191 (GRCm39)	splice site	probably null
R5316:Sycp2	UTSW	2	177,998,296 (GRCm39)	missense	probably benign	0.00
R5389:Sycp2	UTSW	2	178,019,495 (GRCm39)	splice site	probably null
R5621:Sycp2	UTSW	2	178,023,711 (GRCm39)	missense	probably benign	0.05
R5652:Sycp2	UTSW	2	178,000,498 (GRCm39)	splice site	probably null
R5880:Sycp2	UTSW	2	178,016,263 (GRCm39)	missense	possibly damaging	0.92
R6114:Sycp2	UTSW	2	177,990,038 (GRCm39)	missense	probably benign	0.25
R6115:Sycp2	UTSW	2	177,990,038 (GRCm39)	missense	probably benign	0.25
R6186:Sycp2	UTSW	2	178,025,353 (GRCm39)	missense	probably damaging	0.97
R6351:Sycp2	UTSW	2	178,005,209 (GRCm39)	missense	probably damaging	1.00
R6509:Sycp2	UTSW	2	178,037,687 (GRCm39)	missense	probably damaging	1.00
R6536:Sycp2	UTSW	2	177,993,441 (GRCm39)	missense	probably damaging	1.00
R6679:Sycp2	UTSW	2	178,022,721 (GRCm39)	missense	probably damaging	0.96
R6687:Sycp2	UTSW	2	177,996,753 (GRCm39)	missense	probably damaging	0.99
R6761:Sycp2	UTSW	2	178,016,144 (GRCm39)	splice site	probably null
R6786:Sycp2	UTSW	2	178,025,345 (GRCm39)	missense	possibly damaging	0.63
R7357:Sycp2	UTSW	2	178,045,597 (GRCm39)	splice site	probably null
R7422:Sycp2	UTSW	2	178,035,944 (GRCm39)	missense	probably damaging	1.00
R7519:Sycp2	UTSW	2	177,988,126 (GRCm39)	makesense	probably null
R7805:Sycp2	UTSW	2	178,022,651 (GRCm39)	missense	probably damaging	0.99
R7960:Sycp2	UTSW	2	178,046,453 (GRCm39)	missense	probably null	0.90
R8022:Sycp2	UTSW	2	177,996,855 (GRCm39)	missense	probably damaging	1.00
R8037:Sycp2	UTSW	2	178,045,571 (GRCm39)	missense	probably damaging	1.00
R8038:Sycp2	UTSW	2	178,045,571 (GRCm39)	missense	probably damaging	1.00
R8039:Sycp2	UTSW	2	178,016,378 (GRCm39)	missense	probably benign	0.05
R8159:Sycp2	UTSW	2	177,996,770 (GRCm39)	missense	probably damaging	0.97
R8233:Sycp2	UTSW	2	177,998,427 (GRCm39)	missense	probably damaging	1.00
R8436:Sycp2	UTSW	2	178,004,761 (GRCm39)	missense	probably benign	0.44
R8437:Sycp2	UTSW	2	178,006,651 (GRCm39)	missense	probably damaging	1.00
R8528:Sycp2	UTSW	2	178,016,326 (GRCm39)	missense	probably damaging	1.00
R8679:Sycp2	UTSW	2	177,992,768 (GRCm39)	missense	probably damaging	0.99
R8843:Sycp2	UTSW	2	177,990,052 (GRCm39)	missense	probably damaging	0.99
R9044:Sycp2	UTSW	2	177,989,617 (GRCm39)	missense	probably damaging	1.00
R9067:Sycp2	UTSW	2	177,989,214 (GRCm39)	critical splice donor site	probably null
R9203:Sycp2	UTSW	2	177,996,906 (GRCm39)	missense	probably damaging	1.00
R9263:Sycp2	UTSW	2	178,035,931 (GRCm39)	missense	probably damaging	1.00
R9301:Sycp2	UTSW	2	178,023,650 (GRCm39)	missense	probably benign	0.00
R9596:Sycp2	UTSW	2	177,990,212 (GRCm39)	critical splice donor site	probably null
R9633:Sycp2	UTSW	2	177,998,254 (GRCm39)	missense	probably damaging	1.00
R9715:Sycp2	UTSW	2	178,035,957 (GRCm39)	missense	probably damaging	1.00
R9748:Sycp2	UTSW	2	178,025,304 (GRCm39)	missense	probably damaging	1.00
Z1088:Sycp2	UTSW	2	178,023,727 (GRCm39)	missense	probably benign	0.17
Z1088:Sycp2	UTSW	2	178,016,160 (GRCm39)	missense	probably benign
Z1176:Sycp2	UTSW	2	178,006,674 (GRCm39)	missense	probably damaging	1.00
Z1177:Sycp2	UTSW	2	178,022,668 (GRCm39)	missense	probably damaging	1.00
Z1191:Sycp2	UTSW	2	177,992,662 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAGTTCATTTGCAGCTGATGTAAG -3'
(R):5'- AACAACATCTGATGGCAATGAC -3'

Sequencing Primer
(F):5'- CAGCTGATGTAAGATAGAACTATGC -3'
(R):5'- TCTGATGGCAATGACCTCTCAAG -3'

Posted On

2021-04-30