Incidental Mutation 'R4720:Sycp2'
ID 354352
Institutional Source Beutler Lab
Gene Symbol Sycp2
Ensembl Gene ENSMUSG00000060445
Gene Name synaptonemal complex protein 2
Synonyms 3830402K23Rik, 4930518F03Rik
MMRRC Submission 041958-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4720 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 177987086-178049478 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 178016225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 746 (S746R)
Ref Sequence ENSEMBL: ENSMUSP00000079909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081134]
AlphaFold Q9CUU3
Predicted Effect probably benign
Transcript: ENSMUST00000081134
AA Change: S746R

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000079909
Gene: ENSMUSG00000060445
AA Change: S746R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132765
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
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
Abca9 A G 11: 110,018,248 (GRCm39) I1124T probably damaging Het
Acacb A G 5: 114,367,975 (GRCm39) T1658A possibly damaging Het
Acvrl1 C A 15: 101,033,654 (GRCm39) P112Q probably damaging Het
Ankar A T 1: 72,738,170 (GRCm39) I4K possibly damaging Het
Ankfn1 G C 11: 89,332,252 (GRCm39) D431E possibly damaging Het
Apobec4 T C 1: 152,632,425 (GRCm39) V151A possibly damaging Het
Atp10b A G 11: 43,093,949 (GRCm39) S498G probably benign Het
Azin1 A G 15: 38,493,744 (GRCm39) V293A probably benign Het
Ccdc88b T C 19: 6,835,083 (GRCm39) E46G probably damaging Het
Ccdc96 T C 5: 36,642,219 (GRCm39) probably benign Het
Ccnyl1 A G 1: 64,752,290 (GRCm39) D169G probably benign Het
Cdca3 T A 6: 124,809,127 (GRCm39) V89E probably damaging Het
Cdh19 A T 1: 110,823,111 (GRCm39) probably null Het
Chka G A 19: 3,936,375 (GRCm39) V238I probably damaging Het
Cntn3 T C 6: 102,218,983 (GRCm39) K546E possibly damaging Het
Crybg3 A G 16: 59,360,180 (GRCm39) V787A probably damaging Het
Dlgap3 T C 4: 127,089,508 (GRCm39) probably null Het
Dnah8 C T 17: 30,902,608 (GRCm39) L889F probably benign Het
Dnah9 T C 11: 65,967,184 (GRCm39) E1658G probably damaging Het
Dnajc11 A G 4: 152,052,996 (GRCm39) D102G probably damaging Het
Dync1i2 T G 2: 71,064,018 (GRCm39) S121A probably damaging Het
Ece1 G A 4: 137,684,486 (GRCm39) E591K probably damaging Het
Enthd1 G A 15: 80,444,510 (GRCm39) S15L probably damaging Het
Epb41l2 T A 10: 25,347,524 (GRCm39) H372Q probably damaging Het
Errfi1 T A 4: 150,951,204 (GRCm39) Y211N probably damaging Het
Fam193b G A 13: 55,691,250 (GRCm39) T208M probably benign Het
Flacc1 T C 1: 58,717,507 (GRCm39) I135V possibly damaging Het
Fmnl2 C T 2: 52,997,552 (GRCm39) T501M possibly damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm4841 G T 18: 60,403,135 (GRCm39) D319E probably benign Het
Gucd1 A G 10: 75,345,494 (GRCm39) F187S probably damaging Het
Hcar2 GCGGATGCGCAC GC 5: 124,002,752 (GRCm39) probably null Het
Helz2 T C 2: 180,880,210 (GRCm39) D502G probably damaging Het
Hspa2 A G 12: 76,451,639 (GRCm39) E111G possibly damaging Het
Htr2a T A 14: 74,882,499 (GRCm39) S162T probably damaging Het
Ift80 A G 3: 68,869,623 (GRCm39) Y223H possibly damaging Het
Il1rl1 A G 1: 40,485,838 (GRCm39) K330E probably benign Het
Il23r A T 6: 67,400,645 (GRCm39) F562I probably damaging Het
Isx T C 8: 75,600,487 (GRCm39) probably null Het
Jcad G A 18: 4,674,055 (GRCm39) V606I probably benign Het
Kcnn2 A T 18: 45,816,187 (GRCm39) T333S possibly damaging Het
Kcnq5 C T 1: 21,473,274 (GRCm39) A630T probably damaging Het
Kif2c T C 4: 117,028,946 (GRCm39) M188V probably benign Het
Kntc1 T C 5: 123,903,086 (GRCm39) V321A possibly damaging Het
Krtap4-8 A T 11: 99,671,271 (GRCm39) probably benign Het
Lcor G C 19: 41,574,334 (GRCm39) A1030P probably benign Het
Lgals3bp A C 11: 118,289,295 (GRCm39) L52R probably damaging Het
Lipk C A 19: 33,999,099 (GRCm39) H126Q probably damaging Het
Lpgat1 T C 1: 191,495,779 (GRCm39) Y323H probably damaging Het
Lrp2 T G 2: 69,311,517 (GRCm39) N2654H probably damaging Het
Lsm14b C T 2: 179,669,774 (GRCm39) Q6* probably null Het
Lysmd3 C T 13: 81,817,584 (GRCm39) A187V possibly damaging Het
Map2k5 A G 9: 63,201,001 (GRCm39) S211P probably damaging Het
Mlph A T 1: 90,869,419 (GRCm39) I474F probably damaging Het
Mpped2 T C 2: 106,614,091 (GRCm39) S142P probably damaging Het
Nemf A C 12: 69,371,062 (GRCm39) M678R probably benign Het
Nfe2l1 A T 11: 96,718,515 (GRCm39) Y7N probably damaging Het
Nfkbie T G 17: 45,867,232 (GRCm39) D122E probably benign Het
Noc3l C A 19: 38,778,066 (GRCm39) A783S probably benign Het
Nol8 T C 13: 49,816,229 (GRCm39) V761A probably damaging Het
Nvl A G 1: 180,929,152 (GRCm39) L743P probably damaging Het
Or1j1 T A 2: 36,702,484 (GRCm39) I207F probably benign Het
Plcb1 A G 2: 135,093,667 (GRCm39) K160R possibly damaging Het
Plekhg3 G T 12: 76,625,096 (GRCm39) G1313C possibly damaging Het
Plekhh1 GTCAAA G 12: 79,122,194 (GRCm39) probably null Het
Popdc3 G A 10: 45,191,002 (GRCm39) V38I probably benign Het
Prdx3 A T 19: 60,858,551 (GRCm39) V114D possibly damaging Het
Prkdc T A 16: 15,485,579 (GRCm39) S469T probably benign Het
Rbm22 G A 18: 60,697,463 (GRCm39) R56H probably damaging Het
Reln A T 5: 22,491,894 (GRCm39) F113I possibly damaging Het
Rims1 A G 1: 22,497,731 (GRCm39) Y808H probably damaging Het
Rsbn1 C A 3: 103,836,336 (GRCm39) T458N possibly damaging Het
Serpina3b A G 12: 104,096,889 (GRCm39) S57G possibly damaging Het
Skor2 G T 18: 76,948,878 (GRCm39) probably null Het
Slc22a4 A T 11: 53,879,719 (GRCm39) Y447N probably damaging Het
Slco1a7 C A 6: 141,668,948 (GRCm39) A495S probably damaging Het
Stx19 G T 16: 62,642,682 (GRCm39) R166L probably damaging Het
Svep1 T C 4: 58,205,869 (GRCm39) T170A possibly damaging Het
Tchh G T 3: 93,355,189 (GRCm39) R1543L unknown Het
Tjp2 T C 19: 24,078,169 (GRCm39) D908G probably damaging Het
Ttc8 C A 12: 98,946,068 (GRCm39) A452E possibly damaging Het
Unc5a T A 13: 55,151,696 (GRCm39) W709R probably null Het
Unc80 T A 1: 66,549,951 (GRCm39) S736R possibly damaging Het
Vmn2r100 C A 17: 19,742,788 (GRCm39) H387Q probably benign Het
Vmn2r39 C T 7: 9,026,469 (GRCm39) probably null Het
Vmn2r88 T A 14: 51,650,702 (GRCm39) D138E probably benign Het
Vwce T C 19: 10,625,831 (GRCm39) F448L possibly damaging Het
Wdr75 C T 1: 45,861,645 (GRCm39) S695F probably benign Het
Zfand4 T C 6: 116,265,122 (GRCm39) probably null Het
Zfp511 T A 7: 139,617,424 (GRCm39) probably null Het
Zfyve9 T C 4: 108,501,565 (GRCm39) K584E possibly 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
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
Predicted Primers PCR Primer
(F):5'- TGCCTGTACACCAATCTCG -3'
(R):5'- TCAAGTGTAACAAGTCAGATGAAGC -3'

Sequencing Primer
(F):5'- ACCAATCTCGTTCCACAAGTCTG -3'
(R):5'- CAAGTCAGATGAAGCAGAATTTTGTG -3'
Posted On 2015-10-21