Incidental Mutation 'R5086:Syde2'
ID 453533
Institutional Source Beutler Lab
Gene Symbol Syde2
Ensembl Gene ENSMUSG00000036863
Gene Name synapse defective 1, Rho GTPase, homolog 2 (C. elegans)
Synonyms C430017H16Rik
MMRRC Submission 042675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R5086 (G1)
Quality Score 217
Status Validated
Chromosome 3
Chromosomal Location 145693625-145727475 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) CAGTT to CAGTTAGTT at 145707163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039517] [ENSMUST00000200546] [ENSMUST00000212479]
AlphaFold E9PUP1
Predicted Effect probably null
Transcript: ENSMUST00000039517
SMART Domains Protein: ENSMUSP00000041897
Gene: ENSMUSG00000036863

DomainStartEndE-ValueType
low complexity region 65 98 N/A INTRINSIC
low complexity region 116 128 N/A INTRINSIC
low complexity region 164 185 N/A INTRINSIC
low complexity region 197 221 N/A INTRINSIC
low complexity region 623 636 N/A INTRINSIC
C2 802 902 1.1e0 SMART
RhoGAP 950 1149 1.23e-57 SMART
Blast:RhoGAP 1151 1299 2e-50 BLAST
low complexity region 1300 1311 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195918
Predicted Effect probably null
Transcript: ENSMUST00000200546
SMART Domains Protein: ENSMUSP00000142954
Gene: ENSMUSG00000036863

DomainStartEndE-ValueType
low complexity region 355 368 N/A INTRINSIC
C2 534 634 7.2e-3 SMART
RhoGAP 682 881 7.3e-60 SMART
Blast:RhoGAP 883 1031 2e-50 BLAST
low complexity region 1032 1043 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000212479
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.3%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adsl T A 15: 80,847,901 (GRCm39) M278K probably damaging Het
Ago1 T C 4: 126,347,397 (GRCm39) I147V probably benign Het
Ank1 T C 8: 23,578,634 (GRCm39) L261P probably damaging Het
Ank2 T C 3: 126,740,997 (GRCm39) probably benign Het
Ap1b1 T C 11: 4,968,020 (GRCm39) V177A possibly damaging Het
Arhgap21 A G 2: 20,853,645 (GRCm39) S1906P probably benign Het
Asb1 A G 1: 91,482,533 (GRCm39) Y214C probably benign Het
BC049715 C T 6: 136,817,429 (GRCm39) T223M probably damaging Het
C1ra T A 6: 124,496,688 (GRCm39) C375S probably damaging Het
Cdh26 C T 2: 178,083,210 (GRCm39) R26* probably null Het
Chordc1 A G 9: 18,224,131 (GRCm39) M304V probably benign Het
Cpne8 T C 15: 90,532,771 (GRCm39) probably benign Het
Cracd A G 5: 77,004,971 (GRCm39) E444G unknown Het
Csf1 T C 3: 107,656,026 (GRCm39) E335G possibly damaging Het
Ctnnd2 C T 15: 30,683,493 (GRCm39) P498L possibly damaging Het
Cyp4f18 C T 8: 72,756,276 (GRCm39) R100H probably benign Het
Dnaaf2 G A 12: 69,244,060 (GRCm39) R334C probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dock10 A G 1: 80,529,189 (GRCm39) S1071P possibly damaging Het
Dtnb T C 12: 3,682,942 (GRCm39) V7A probably benign Het
Eif1 T C 11: 100,211,552 (GRCm39) I62T probably damaging Het
Fbxo44 T A 4: 148,240,669 (GRCm39) T145S probably benign Het
G530012D18Rik G C 1: 85,504,941 (GRCm39) probably benign Het
Gabbr2 A T 4: 46,724,342 (GRCm39) M17K probably damaging Het
Gm5860 T A 4: 81,984,173 (GRCm39) noncoding transcript Het
Gm7964 T A 7: 83,406,560 (GRCm39) F439Y possibly damaging Het
Gpbp1l1 C A 4: 116,445,789 (GRCm39) T297N probably benign Het
Greb1 C T 12: 16,758,023 (GRCm39) probably benign Het
Gvin3 A T 7: 106,197,234 (GRCm39) noncoding transcript Het
Hkdc1 T C 10: 62,231,053 (GRCm39) probably benign Het
Ighv16-1 T A 12: 114,032,510 (GRCm39) L97F probably benign Het
Il21r A G 7: 125,232,027 (GRCm39) D485G probably damaging Het
Inpp5d A G 1: 87,633,686 (GRCm39) H441R probably damaging Het
Iqgap2 G T 13: 95,772,088 (GRCm39) R1364S probably benign Het
Krtap20-2 G T 16: 89,002,806 (GRCm39) C2F unknown Het
Man2c1 T A 9: 57,038,924 (GRCm39) D111E probably damaging Het
Map1a G A 2: 121,134,985 (GRCm39) E1696K probably damaging Het
Mdc1 T A 17: 36,159,522 (GRCm39) V634E probably benign Het
Mgam2-ps A G 6: 40,800,547 (GRCm39) noncoding transcript Het
Mllt3 T A 4: 87,707,535 (GRCm39) N68Y probably damaging Het
Mrps18a T A 17: 46,436,621 (GRCm39) D143E probably benign Het
Myl12a T C 17: 71,301,611 (GRCm39) D172G possibly damaging Het
Notch3 T C 17: 32,362,308 (GRCm39) N1439S probably benign Het
Npepps T C 11: 97,108,625 (GRCm39) M764V probably benign Het
Or8d2b T C 9: 38,789,087 (GRCm39) L205P probably damaging Het
Paxbp1 A T 16: 90,812,104 (GRCm39) probably benign Het
Pcdhb7 A T 18: 37,476,162 (GRCm39) T433S possibly damaging Het
Pcdhb8 A T 18: 37,489,159 (GRCm39) Y279F probably damaging Het
Pim3 T C 15: 88,748,606 (GRCm39) L235P probably damaging Het
Plekha4 C T 7: 45,203,082 (GRCm39) S685F possibly damaging Het
Plekhg1 C A 10: 3,853,649 (GRCm39) H167Q probably damaging Het
Plekhn1 G C 4: 156,306,881 (GRCm39) P503A probably benign Het
Sar1a T C 10: 61,527,125 (GRCm39) L181P probably damaging Het
Sec22a G T 16: 35,168,112 (GRCm39) S133* probably null Het
Sipa1l3 G A 7: 29,048,000 (GRCm39) S247F probably damaging Het
Slc31a1 T C 4: 62,306,190 (GRCm39) S103P probably damaging Het
Spag6 A C 2: 18,747,688 (GRCm39) probably benign Het
Stab1 T A 14: 30,865,581 (GRCm39) D1769V probably damaging Het
Stab1 G A 14: 30,881,261 (GRCm39) L590F probably damaging Het
Tbc1d2b A G 9: 90,109,510 (GRCm39) L322P probably benign Het
Tdrp T C 8: 14,024,590 (GRCm39) E18G possibly damaging Het
Tlr3 T A 8: 45,855,862 (GRCm39) N106I probably damaging Het
Tmem104 T A 11: 115,092,227 (GRCm39) I112N probably damaging Het
Tmem14c C T 13: 41,174,598 (GRCm39) T69I probably benign Het
Tmprss11g G A 5: 86,644,377 (GRCm39) P156S possibly damaging Het
Ttn A T 2: 76,700,947 (GRCm39) probably benign Het
Vmn1r45 A T 6: 89,910,082 (GRCm39) I296N probably benign Het
Vmn2r1 T A 3: 63,997,418 (GRCm39) V358D probably benign Het
Zc3h7b T C 15: 81,677,375 (GRCm39) L892P probably damaging Het
Zfp366 A G 13: 99,365,451 (GRCm39) Q204R probably benign Het
Zfp598 C A 17: 24,899,872 (GRCm39) probably benign Het
Other mutations in Syde2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Syde2 APN 3 145,720,096 (GRCm39) missense possibly damaging 0.76
IGL01624:Syde2 APN 3 145,712,790 (GRCm39) missense probably damaging 1.00
IGL02059:Syde2 APN 3 145,707,927 (GRCm39) missense possibly damaging 0.77
IGL02195:Syde2 APN 3 145,707,911 (GRCm39) missense probably damaging 1.00
IGL02498:Syde2 APN 3 145,704,444 (GRCm39) missense probably benign 0.08
IGL02609:Syde2 APN 3 145,704,275 (GRCm39) missense probably benign 0.00
IGL02721:Syde2 APN 3 145,707,759 (GRCm39) missense probably damaging 1.00
IGL02932:Syde2 APN 3 145,707,231 (GRCm39) missense possibly damaging 0.79
IGL02957:Syde2 APN 3 145,694,934 (GRCm39) splice site probably benign
R0062:Syde2 UTSW 3 145,704,508 (GRCm39) missense probably benign 0.00
R0062:Syde2 UTSW 3 145,704,508 (GRCm39) missense probably benign 0.00
R0413:Syde2 UTSW 3 145,712,887 (GRCm39) missense probably damaging 1.00
R0505:Syde2 UTSW 3 145,720,135 (GRCm39) missense possibly damaging 0.85
R0535:Syde2 UTSW 3 145,694,925 (GRCm39) critical splice donor site probably null
R0646:Syde2 UTSW 3 145,720,004 (GRCm39) splice site probably null
R1535:Syde2 UTSW 3 145,708,176 (GRCm39) splice site probably benign
R1914:Syde2 UTSW 3 145,720,071 (GRCm39) nonsense probably null
R1915:Syde2 UTSW 3 145,720,071 (GRCm39) nonsense probably null
R1997:Syde2 UTSW 3 145,704,746 (GRCm39) missense probably benign 0.08
R2012:Syde2 UTSW 3 145,694,163 (GRCm39) missense possibly damaging 0.88
R2112:Syde2 UTSW 3 145,704,241 (GRCm39) missense possibly damaging 0.52
R2220:Syde2 UTSW 3 145,707,713 (GRCm39) missense probably benign 0.07
R2990:Syde2 UTSW 3 145,707,252 (GRCm39) missense probably damaging 0.97
R4022:Syde2 UTSW 3 145,721,480 (GRCm39) missense probably benign 0.25
R5077:Syde2 UTSW 3 145,707,764 (GRCm39) missense probably damaging 1.00
R5084:Syde2 UTSW 3 145,707,163 (GRCm39) nonsense probably null
R5084:Syde2 UTSW 3 145,707,164 (GRCm39) frame shift probably null
R5087:Syde2 UTSW 3 145,712,881 (GRCm39) missense probably damaging 1.00
R5087:Syde2 UTSW 3 145,707,163 (GRCm39) nonsense probably null
R5101:Syde2 UTSW 3 145,721,393 (GRCm39) missense probably damaging 1.00
R5211:Syde2 UTSW 3 145,707,093 (GRCm39) missense probably benign 0.01
R5842:Syde2 UTSW 3 145,704,775 (GRCm39) missense probably benign 0.00
R6025:Syde2 UTSW 3 145,712,896 (GRCm39) splice site probably null
R6352:Syde2 UTSW 3 145,704,229 (GRCm39) nonsense probably null
R6384:Syde2 UTSW 3 145,704,568 (GRCm39) missense probably damaging 1.00
R6769:Syde2 UTSW 3 145,704,803 (GRCm39) missense probably damaging 0.98
R6771:Syde2 UTSW 3 145,704,803 (GRCm39) missense probably damaging 0.98
R6970:Syde2 UTSW 3 145,694,381 (GRCm39) missense probably benign 0.15
R6988:Syde2 UTSW 3 145,725,564 (GRCm39) missense probably benign 0.31
R7067:Syde2 UTSW 3 145,694,019 (GRCm39) missense probably benign 0.00
R7146:Syde2 UTSW 3 145,712,870 (GRCm39) nonsense probably null
R7191:Syde2 UTSW 3 145,708,113 (GRCm39) missense probably benign 0.04
R7246:Syde2 UTSW 3 145,694,510 (GRCm39) missense probably benign 0.22
R7271:Syde2 UTSW 3 145,726,031 (GRCm39) missense possibly damaging 0.71
R7307:Syde2 UTSW 3 145,721,553 (GRCm39) missense probably damaging 1.00
R7875:Syde2 UTSW 3 145,726,020 (GRCm39) missense probably damaging 1.00
R7903:Syde2 UTSW 3 145,704,543 (GRCm39) missense probably damaging 1.00
R7918:Syde2 UTSW 3 145,708,170 (GRCm39) critical splice donor site probably null
R8016:Syde2 UTSW 3 145,707,727 (GRCm39) missense possibly damaging 0.82
R8185:Syde2 UTSW 3 145,694,667 (GRCm39) missense probably benign
R8328:Syde2 UTSW 3 145,721,496 (GRCm39) missense probably benign 0.31
R8913:Syde2 UTSW 3 145,708,148 (GRCm39) missense probably damaging 1.00
R9800:Syde2 UTSW 3 145,704,364 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- ATCCGTCTCTGTGCTGAGAG -3'
(R):5'- ACACCCTGAGGAATTTCTCGAC -3'

Sequencing Primer
(F):5'- TCTCTGTGCTGAGAGCCGAG -3'
(R):5'- TGAGGAATTTCTCGACAGTTCC -3'
Posted On 2017-02-09