Incidental Mutation 'R8679:Sycp2'
ID 661565
Institutional Source Beutler Lab
Gene Symbol Sycp2
Ensembl Gene ENSMUSG00000060445
Gene Name synaptonemal complex protein 2
Synonyms 3830402K23Rik, 4930518F03Rik
MMRRC Submission 068534-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8679 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 177987086-178049478 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 177992768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 1261 (R1261C)
Ref Sequence ENSEMBL: ENSMUSP00000079909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081134]
AlphaFold Q9CUU3
Predicted Effect probably damaging
Transcript: ENSMUST00000081134
AA Change: R1261C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000079909
Gene: ENSMUSG00000060445
AA Change: R1261C

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency 98% (91/93)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T C 16: 20,152,479 (GRCm39) T1356A possibly damaging Het
Ace3 A G 11: 105,886,701 (GRCm39) T154A probably benign Het
Arhgap31 C A 16: 38,422,966 (GRCm39) Q1033H probably damaging Het
C1qtnf1 C T 11: 118,337,340 (GRCm39) R57* probably null Het
Cacna1g T C 11: 94,319,962 (GRCm39) T1405A probably damaging Het
Cacna1i A G 15: 80,260,011 (GRCm39) probably benign Het
Cdca4 T A 12: 112,785,734 (GRCm39) probably null Het
Cpa4 T A 6: 30,585,158 (GRCm39) M314K probably damaging Het
Cpn2 A T 16: 30,078,085 (GRCm39) S539T possibly damaging Het
Crebbp A G 16: 3,902,322 (GRCm39) S2306P probably damaging Het
Cspg4b A G 13: 113,488,163 (GRCm39) R9G Het
Dcaf5 T C 12: 80,385,807 (GRCm39) H773R probably benign Het
Dcun1d2 A T 8: 13,311,406 (GRCm39) D194E probably benign Het
Dnah1 G T 14: 30,989,767 (GRCm39) R3250S possibly damaging Het
Dnajc25 A C 4: 59,020,195 (GRCm39) K206T possibly damaging Het
Dnajc27 T C 12: 4,146,325 (GRCm39) L118P possibly damaging Het
Etl4 C T 2: 20,714,288 (GRCm39) T129I probably damaging Het
Faap100 A G 11: 120,263,003 (GRCm39) I785T probably damaging Het
Fam227b A T 2: 125,830,928 (GRCm39) D425E probably benign Het
Fat4 C G 3: 39,064,842 (GRCm39) L4933V probably damaging Het
Fbrsl1 A G 5: 110,526,086 (GRCm39) F39L probably damaging Het
Fezf1 A G 6: 23,247,769 (GRCm39) V102A probably benign Het
Gabra2 T C 5: 71,170,040 (GRCm39) probably benign Het
Garnl3 C A 2: 32,916,106 (GRCm39) R346L probably damaging Het
Grin2a A T 16: 9,403,089 (GRCm39) I799N possibly damaging Het
Hspa4 A G 11: 53,160,691 (GRCm39) F462L probably damaging Het
Iars1 C A 13: 49,856,675 (GRCm39) probably benign Het
Igkv6-32 C T 6: 70,051,063 (GRCm39) V98M possibly damaging Het
Il31ra A G 13: 112,662,372 (GRCm39) F560S possibly damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kif2a G A 13: 107,116,049 (GRCm39) T299I probably damaging Het
Leo1 T A 9: 75,373,544 (GRCm39) Y656* probably null Het
Lpcat2 T A 8: 93,635,864 (GRCm39) V422D probably damaging Het
Lrrcc1 T A 3: 14,601,084 (GRCm39) S39T probably benign Het
Macf1 A T 4: 123,405,869 (GRCm39) S341T probably benign Het
Mc2r T A 18: 68,540,879 (GRCm39) Y138F probably damaging Het
Mepe A G 5: 104,485,754 (GRCm39) N298S possibly damaging Het
Mmp15 C A 8: 96,092,982 (GRCm39) N120K possibly damaging Het
Mrps9 A G 1: 42,918,915 (GRCm39) R106G probably damaging Het
Muc16 T A 9: 18,557,744 (GRCm39) M2850L unknown Het
Mxra8 T A 4: 155,927,122 (GRCm39) I352N probably damaging Het
Myo16 G A 8: 10,411,042 (GRCm39) V167I unknown Het
Neb T C 2: 52,215,051 (GRCm39) D209G probably damaging Het
Nlgn2 A G 11: 69,716,309 (GRCm39) V744A probably benign Het
Notch2 A G 3: 98,029,218 (GRCm39) probably null Het
Nr1d1 G C 11: 98,660,073 (GRCm39) R484G probably damaging Het
Or14c42-ps1 A T 7: 86,211,147 (GRCm39) H69L unknown Het
Or5ak20 T C 2: 85,183,953 (GRCm39) T106A probably benign Het
Or5k16 G A 16: 58,736,843 (GRCm39) R54C probably benign Het
Or9k2b T C 10: 130,016,702 (GRCm39) I16V probably benign Het
Oxa1l A G 14: 54,605,248 (GRCm39) probably null Het
Piwil4 T C 9: 14,616,322 (GRCm39) D15G Het
Plcz1 C A 6: 139,949,612 (GRCm39) W461L probably damaging Het
Plek A T 11: 16,944,676 (GRCm39) I118N probably damaging Het
Poc1b C A 10: 99,000,728 (GRCm39) probably benign Het
Potefam1 A T 2: 111,059,567 (GRCm39) M64K possibly damaging Het
Ppp1r16b G A 2: 158,593,098 (GRCm39) D226N probably damaging Het
Prss36 T C 7: 127,532,635 (GRCm39) T739A possibly damaging Het
Psme2 A T 14: 55,827,074 (GRCm39) probably null Het
Ptprb T G 10: 116,203,495 (GRCm39) V1802G probably damaging Het
Rabep2 C A 7: 126,034,848 (GRCm39) Y84* probably null Het
Rbbp6 T G 7: 122,600,516 (GRCm39) S1508A unknown Het
Rel A T 11: 23,692,430 (GRCm39) D534E probably benign Het
Rpgrip1 G A 14: 52,396,852 (GRCm39) S1258N probably damaging Het
Rprml T C 11: 103,540,953 (GRCm39) L116P probably damaging Het
Rsph10b A G 5: 143,887,112 (GRCm39) T323A possibly damaging Het
Rtn4rl1 A G 11: 75,156,099 (GRCm39) H177R probably damaging Het
Sag A G 1: 87,738,032 (GRCm39) T24A probably benign Het
Scgb2b26 G T 7: 33,643,784 (GRCm39) T52N probably damaging Het
Scn10a T C 9: 119,501,194 (GRCm39) I197V probably damaging Het
Sec24c T A 14: 20,742,927 (GRCm39) V1003D possibly damaging Het
Sirt2 G A 7: 28,471,261 (GRCm39) G30E probably damaging Het
Slc13a5 T A 11: 72,149,919 (GRCm39) Q197L probably benign Het
Slc44a3 A T 3: 121,283,918 (GRCm39) S445T probably damaging Het
Slc7a7 A T 14: 54,610,449 (GRCm39) V399E probably benign Het
Smarcad1 T A 6: 65,088,865 (GRCm39) D1000E probably benign Het
Sorcs2 G T 5: 36,196,657 (GRCm39) Q663K probably benign Het
Stat4 A G 1: 52,118,991 (GRCm39) R345G probably null Het
Tcf19 T C 17: 35,825,381 (GRCm39) I259V probably benign Het
Thada T A 17: 84,536,637 (GRCm39) R1636S probably benign Het
Tnrc6c T C 11: 117,604,961 (GRCm39) L32P probably benign Het
Tonsl G A 15: 76,517,076 (GRCm39) T881I probably benign Het
Tonsl A C 15: 76,518,263 (GRCm39) C570G probably damaging Het
Ube2o C A 11: 116,432,273 (GRCm39) E898* probably null Het
Usp5 T C 6: 124,794,394 (GRCm39) H762R possibly damaging Het
Vmn2r15 A G 5: 109,434,779 (GRCm39) S642P probably benign Het
Vmn2r23 T C 6: 123,690,431 (GRCm39) W436R probably damaging Het
Vps13d A C 4: 144,811,977 (GRCm39) I3343M Het
Wbp11 T C 6: 136,799,932 (GRCm39) K83E probably damaging Het
Zfp26 T A 9: 20,356,201 (GRCm39) N36Y possibly damaging Het
Zfp57 T A 17: 37,320,938 (GRCm39) I264N probably damaging Het
Other mutations in Sycp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- AGCTACCCTGGAAGTAACTGCAG -3'
(R):5'- GCCACAGCCTTGCTTTTAAAG -3'

Sequencing Primer
(F):5'- CCCTGGAAGTAACTGCAGTTTAAC -3'
(R):5'- CAGCCTTGCTTTTAAAGTAATTACC -3'
Posted On 2021-03-08