Incidental Mutation 'R1950:Sycp2'
ID 217178
Institutional Source Beutler Lab
Gene Symbol Sycp2
Ensembl Gene ENSMUSG00000060445
Gene Name synaptonemal complex protein 2
Synonyms 3830402K23Rik, 4930518F03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1950 (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 C at 178044593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 71 (I71V)
Ref Sequence ENSEMBL: ENSMUSP00000116917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081134] [ENSMUST00000138175]
AlphaFold Q9CUU3
Predicted Effect probably benign
Transcript: ENSMUST00000081134
AA Change: I71V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000079909
Gene: ENSMUSG00000060445
AA Change: I71V

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 probably benign
Transcript: ENSMUST00000138175
AA Change: I71V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 A G 5: 4,010,677 (GRCm39) N478S probably damaging Het
Als2 T A 1: 59,224,760 (GRCm39) probably null Het
Ankfy1 A G 11: 72,651,155 (GRCm39) Y1035C probably damaging Het
Ankrd11 T C 8: 123,616,608 (GRCm39) T2394A probably damaging Het
Axin1 G C 17: 26,412,938 (GRCm39) G780R possibly damaging Het
Carm1 A T 9: 21,485,812 (GRCm39) T127S probably benign Het
Ccdc73 T C 2: 104,757,280 (GRCm39) I81T probably benign Het
Cdh12 T C 15: 21,237,965 (GRCm39) Y67H probably damaging Het
Cfap65 C A 1: 74,946,819 (GRCm39) G1297V probably damaging Het
Cfap74 T C 4: 155,511,887 (GRCm39) probably null Het
Chit1 A G 1: 134,078,968 (GRCm39) Y426C probably damaging Het
Clpp A G 17: 57,303,039 (GRCm39) probably benign Het
Clrn3 T G 7: 135,115,813 (GRCm39) Y179S possibly damaging Het
Cntn5 A C 9: 9,781,774 (GRCm39) M635R probably damaging Het
Col12a1 A T 9: 79,537,831 (GRCm39) S2546T possibly damaging Het
Ctla2b T C 13: 61,043,863 (GRCm39) N102S possibly damaging Het
Cwf19l2 A T 9: 3,418,674 (GRCm39) I154F probably benign Het
Dffa C A 4: 149,188,839 (GRCm39) S44R probably benign Het
Ehbp1 T A 11: 22,009,228 (GRCm39) K930M probably damaging Het
Erc2 T A 14: 27,634,857 (GRCm39) S473T probably damaging Het
Fbxw24 A T 9: 109,434,481 (GRCm39) L373H probably benign Het
Fer1l4 T C 2: 155,890,194 (GRCm39) I244V probably damaging Het
Fgfr2 G A 7: 129,800,211 (GRCm39) T245M probably damaging Het
Garin1b C T 6: 29,335,815 (GRCm39) probably null Het
Gbp9 T A 5: 105,229,112 (GRCm39) M512L probably benign Het
Glg1 T A 8: 111,892,271 (GRCm39) K251I possibly damaging Het
Gm10553 A G 1: 85,078,141 (GRCm39) D86G possibly damaging Het
Gm5622 T C 14: 51,893,229 (GRCm39) V52A probably benign Het
Gucy1b1 A G 3: 81,952,716 (GRCm39) V239A probably benign Het
Gzma A G 13: 113,230,463 (GRCm39) L246P probably damaging Het
Hibadh C A 6: 52,533,448 (GRCm39) A223S probably benign Het
Hydin C A 8: 111,336,619 (GRCm39) T5132N possibly damaging Het
Insrr A G 3: 87,721,820 (GRCm39) N1198S probably damaging Het
Ivl T C 3: 92,479,420 (GRCm39) E215G possibly damaging Het
Jmjd1c A G 10: 67,075,701 (GRCm39) D2037G possibly damaging Het
Kcna3 G A 3: 106,944,988 (GRCm39) C417Y probably damaging Het
Klra2 T C 6: 131,207,078 (GRCm39) N177S probably benign Het
Llgl2 T C 11: 115,741,892 (GRCm39) S645P probably damaging Het
Lrrc15 T C 16: 30,092,649 (GRCm39) E230G probably benign Het
Magel2 C A 7: 62,028,163 (GRCm39) Q356K possibly damaging Het
Mcm6 A G 1: 128,273,726 (GRCm39) V368A probably benign Het
Myh8 G A 11: 67,169,830 (GRCm39) V50M possibly damaging Het
Myrf A T 19: 10,195,554 (GRCm39) F419I possibly damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Or10ak16 G A 4: 118,750,537 (GRCm39) V86M probably benign Het
Or52i2 A G 7: 102,319,684 (GRCm39) M186V probably benign Het
Otud4 G A 8: 80,372,961 (GRCm39) R93H probably damaging Het
Pank4 T A 4: 155,056,977 (GRCm39) M390K probably benign Het
Pecam1 A G 11: 106,576,029 (GRCm39) V401A probably damaging Het
Prdm6 C A 18: 53,669,796 (GRCm39) T138K possibly damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Prpf8 A G 11: 75,387,337 (GRCm39) E1206G possibly damaging Het
Prr30 A T 14: 101,435,377 (GRCm39) I395N probably benign Het
Rab27a G A 9: 72,982,751 (GRCm39) G19R probably damaging Het
Ramacl A G 13: 67,055,269 (GRCm39) probably benign Het
Rrp12 A G 19: 41,881,029 (GRCm39) V134A probably damaging Het
Scly A G 1: 91,233,116 (GRCm39) T76A probably benign Het
Scube3 T C 17: 28,383,274 (GRCm39) S439P possibly damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sipa1l1 T C 12: 82,388,233 (GRCm39) F153S probably damaging Het
Slc25a30 T G 14: 76,007,007 (GRCm39) K163T possibly damaging Het
Slc26a8 T A 17: 28,863,614 (GRCm39) D715V probably benign Het
Smr2 AT ATT 5: 88,256,683 (GRCm39) probably null Het
Smr2 C CT 5: 88,256,685 (GRCm39) probably null Het
Sp6 T G 11: 96,912,940 (GRCm39) S218A probably benign Het
Spata21 T C 4: 140,838,716 (GRCm39) V589A probably damaging Het
Syne2 G T 12: 75,999,644 (GRCm39) G2347C probably benign Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Thbs4 A T 13: 92,906,079 (GRCm39) N387K probably damaging Het
Tmem184a T C 5: 139,793,381 (GRCm39) D216G probably damaging Het
Tprg1 T A 16: 25,136,098 (GRCm39) S30T possibly damaging Het
Trip12 A T 1: 84,738,522 (GRCm39) W778R probably damaging Het
Ttpa T C 4: 20,008,633 (GRCm39) L65P probably damaging Het
Ush2a A T 1: 188,487,382 (GRCm39) N3050I probably damaging Het
Xpot T C 10: 121,455,053 (GRCm39) I30V probably benign Het
Zfp944 A G 17: 22,558,681 (GRCm39) S189P probably benign Het
Zftraf1 A G 15: 76,543,417 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- AATTCACATGGTCGTCAAGGAAC -3'
(R):5'- GGATGTTGAGAATGGCTCCC -3'

Sequencing Primer
(F):5'- GAACTTGTATAGTTTCCTTCTGAACC -3'
(R):5'- TGAGAATGGCTCCCTTTTCAG -3'
Posted On 2014-08-01