Mutagenetix > Incidental Mutation

Incidental Mutation 'R0096:Sycp2'

17230

Institutional Source

Beutler Lab

Gene Symbol

Sycp2

Ensembl Gene

ENSMUSG00000060445

Gene Name

synaptonemal complex protein 2

Synonyms

3830402K23Rik, 4930518F03Rik

MMRRC Submission

038382-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0096 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

177987086-178049478 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 178045528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 31 (Q31K)

Ref Sequence

ENSEMBL: ENSMUSP00000116917 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081134] [ENSMUST00000138175]

AlphaFold

Q9CUU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000081134
AA Change: Q31K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079909
Gene: ENSMUSG00000060445
AA Change: Q31K

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

probably damaging
Transcript: ENSMUST00000138175
AA Change: Q31K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.0839

Coding Region Coverage

1x: 90.0%
3x: 87.5%
10x: 81.4%
20x: 72.0%

Validation Efficiency

89% (76/85)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	T	8: 106,435,563 (GRCm39)		probably null	Het
Adamts3	G	A	5: 89,849,576 (GRCm39)	Q615*	probably null	Het
Adamtsl3	T	A	7: 82,114,907 (GRCm39)		probably benign	Het
Anks1b	T	C	10: 89,909,924 (GRCm39)	S48P	possibly damaging	Het
Aoc1l2	A	C	6: 48,908,122 (GRCm39)	Q374P	probably damaging	Het
Arhgap42	G	T	9: 9,009,314 (GRCm39)	N524K	probably damaging	Het
Arhgef28	T	G	13: 98,067,762 (GRCm39)	T1388P	probably damaging	Het
Arid4b	T	C	13: 14,303,779 (GRCm39)	V68A	probably benign	Het
Bard1	A	T	1: 71,092,889 (GRCm39)		probably benign	Het
BC005537	T	C	13: 24,989,923 (GRCm39)	F129L	probably damaging	Het
Capn3	A	T	2: 120,333,010 (GRCm39)	H592L	possibly damaging	Het
Cilp	A	G	9: 65,180,952 (GRCm39)	T256A	possibly damaging	Het
Cpne8	T	A	15: 90,384,118 (GRCm39)	I481L	probably benign	Het
Dglucy	A	T	12: 100,804,910 (GRCm39)	I134F	possibly damaging	Het
Dnai2	A	C	11: 114,645,158 (GRCm39)	D531A	probably benign	Het
Dthd1	A	T	5: 63,000,383 (GRCm39)	R568S	possibly damaging	Het
Efr3a	A	G	15: 65,727,290 (GRCm39)	N613S	probably damaging	Het
Ermp1	A	G	19: 29,608,788 (GRCm39)	Y164H	possibly damaging	Het
Fbrs	C	T	7: 127,088,659 (GRCm39)	A145V	probably damaging	Het
Gm9873	A	T	2: 168,863,029 (GRCm39)		noncoding transcript	Het
Grik1	T	C	16: 87,831,114 (GRCm39)	M219V	possibly damaging	Het
Gucy1a2	A	T	9: 3,758,928 (GRCm39)		probably benign	Het
Itih5	G	A	2: 10,256,189 (GRCm39)	R885Q	probably benign	Het
Kat2a	A	T	11: 100,597,297 (GRCm39)	V625E	probably damaging	Het
Kdm4c	A	G	4: 74,275,580 (GRCm39)	E752G	probably damaging	Het
Ksr1	A	G	11: 78,929,073 (GRCm39)		probably benign	Het
Lama1	T	A	17: 68,112,408 (GRCm39)	F2283I	probably benign	Het
Luc7l3	A	G	11: 94,192,320 (GRCm39)		probably benign	Het
Map1a	A	G	2: 121,131,986 (GRCm39)	E696G	probably damaging	Het
Mrps34	A	G	17: 25,114,643 (GRCm39)	D110G	probably damaging	Het
Myh11	T	A	16: 14,022,231 (GRCm39)	K1710M	possibly damaging	Het
Myo1d	A	G	11: 80,375,158 (GRCm39)	L972P	probably damaging	Het
Nol4	T	G	18: 23,054,915 (GRCm39)	T58P	possibly damaging	Het
Nos1ap	T	C	1: 170,156,816 (GRCm39)	D214G	probably damaging	Het
Or4c119	A	T	2: 88,986,640 (GRCm39)	M293K	probably benign	Het
Pde4dip	A	C	3: 97,674,783 (GRCm39)	D44E	probably damaging	Het
Pip4k2a	G	A	2: 18,893,850 (GRCm39)		probably benign	Het
Prmt8	T	A	6: 127,709,590 (GRCm39)		probably benign	Het
Pygl	A	T	12: 70,237,940 (GRCm39)		probably benign	Het
Ralgapa1	T	C	12: 55,786,290 (GRCm39)	D643G	probably damaging	Het
Sdk2	A	G	11: 113,793,970 (GRCm39)		probably benign	Het
Skint5	A	T	4: 113,454,965 (GRCm39)		probably benign	Het
Slc27a6	T	C	18: 58,731,829 (GRCm39)		probably benign	Het
Spata46	C	T	1: 170,139,603 (GRCm39)	Q201*	probably null	Het
Sptbn1	A	T	11: 30,064,739 (GRCm39)	V1920E	probably damaging	Het
Taf6l	A	G	19: 8,755,881 (GRCm39)	F256L	probably benign	Het
Tektl1	T	A	10: 78,584,539 (GRCm39)	I328L	probably benign	Het
Trf	A	G	9: 103,099,358 (GRCm39)	F300L	probably damaging	Het
Vmn2r105	A	G	17: 20,447,741 (GRCm39)	F361S	possibly damaging	Het
Vmn2r79	A	G	7: 86,686,527 (GRCm39)	Y636C	probably damaging	Het
Wdr59	T	C	8: 112,231,005 (GRCm39)	N68D	probably 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
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
R8711:Sycp2	UTSW	2	177,990,088 (GRCm39)	missense	probably benign	0.41
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

Posted On

2013-01-20