Incidental Mutation 'R1914:Syde2'
ID 214660
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 039932-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R1914 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 145693625-145727475 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to G at 145720071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 764 (Y764*)
Ref Sequence ENSEMBL: ENSMUSP00000148542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039517] [ENSMUST00000200546] [ENSMUST00000212479]
AlphaFold E9PUP1
Predicted Effect probably null
Transcript: ENSMUST00000039517
AA Change: Y1031*
SMART Domains Protein: ENSMUSP00000041897
Gene: ENSMUSG00000036863
AA Change: Y1031*

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 probably null
Transcript: ENSMUST00000200546
AA Change: Y763*
SMART Domains Protein: ENSMUSP00000142954
Gene: ENSMUSG00000036863
AA Change: Y763*

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
AA Change: Y764*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.1%
  • 20x: 91.6%
Validation Efficiency 99% (90/91)
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,622,386 (GRCm39) V618E possibly damaging Het
Abca6 T C 11: 110,103,036 (GRCm39) R852G probably benign Het
Akap12 G A 10: 4,306,685 (GRCm39) R1165H probably benign Het
Asxl1 T C 2: 153,243,826 (GRCm39) S1459P probably damaging Het
Bahcc1 C T 11: 120,176,225 (GRCm39) R1957C probably damaging Het
Bcar1 A G 8: 112,442,030 (GRCm39) V270A probably damaging Het
Camsap3 C T 8: 3,654,708 (GRCm39) R782C probably damaging Het
Capn15 C A 17: 26,183,837 (GRCm39) A215S probably benign Het
Casz1 T C 4: 149,017,415 (GRCm39) F235L probably damaging Het
Ccdc57 A T 11: 120,794,134 (GRCm39) probably benign Het
Cdh23 A G 10: 60,159,349 (GRCm39) V2142A probably damaging Het
Cdx1 A G 18: 61,152,970 (GRCm39) V212A probably benign Het
Cep104 T C 4: 154,074,296 (GRCm39) L516P possibly damaging Het
Cep95 C T 11: 106,705,464 (GRCm39) T483I probably damaging Het
Cfap100 T C 6: 90,389,329 (GRCm39) probably benign Het
Chia1 T A 3: 106,035,875 (GRCm39) N238K probably benign Het
Cntrl T C 2: 35,052,873 (GRCm39) M1126T probably benign Het
Col28a1 A G 6: 8,176,333 (GRCm39) F8S probably benign Het
Cpeb3 C T 19: 37,031,665 (GRCm39) R579Q probably damaging Het
Dbh A G 2: 27,058,234 (GRCm39) D134G probably damaging Het
Diaph3 A C 14: 86,893,921 (GRCm39) N29K probably damaging Het
Dnajc2 A G 5: 21,986,317 (GRCm39) probably null Het
Ephb1 C T 9: 101,806,577 (GRCm39) C819Y probably damaging Het
Eps8l2 G A 7: 140,941,765 (GRCm39) V650M probably damaging Het
Erlin1 T C 19: 44,047,504 (GRCm39) Y139C probably damaging Het
Fezf2 A T 14: 12,343,988 (GRCm38) V301E probably damaging Het
Fnbp4 T C 2: 90,609,537 (GRCm39) probably benign Het
Gal3st4 T A 5: 138,263,672 (GRCm39) K442N probably benign Het
Gas6 T C 8: 13,527,152 (GRCm39) T199A probably benign Het
Gm10644 G A 8: 84,660,479 (GRCm39) probably benign Het
Gpr88 G T 3: 116,046,073 (GRCm39) S79R possibly damaging Het
Grm4 A T 17: 27,653,686 (GRCm39) C755S probably damaging Het
Hdgfl2 A G 17: 56,403,978 (GRCm39) D278G probably damaging Het
Heatr5a G T 12: 51,952,250 (GRCm39) A1130E probably damaging Het
Heatr9 T G 11: 83,409,035 (GRCm39) I171L possibly damaging Het
Hectd4 A G 5: 121,460,357 (GRCm39) T2209A probably benign Het
Hsh2d A G 8: 72,947,365 (GRCm39) T21A probably damaging Het
Ing1 T A 8: 11,611,577 (GRCm39) V63E probably damaging Het
Irf4 A T 13: 30,945,445 (GRCm39) Q397L probably benign Het
Itgae T A 11: 73,009,469 (GRCm39) probably benign Het
Jrkl A T 9: 13,245,609 (GRCm39) D17E possibly damaging Het
Kcnh6 T A 11: 105,908,270 (GRCm39) Y295* probably null Het
Klf5 T C 14: 99,539,357 (GRCm39) S177P probably benign Het
Lats1 T A 10: 7,586,221 (GRCm39) probably benign Het
Lilrb4a A G 10: 51,368,045 (GRCm39) I53M probably benign Het
Lrrc2 T A 9: 110,810,007 (GRCm39) Y348N probably damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Med25 A G 7: 44,534,046 (GRCm39) S245P probably benign Het
Mlh3 T C 12: 85,308,442 (GRCm39) Y1115C probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myh10 T C 11: 68,681,034 (GRCm39) L1025P probably damaging Het
Myof T A 19: 37,966,141 (GRCm39) N393I probably damaging Het
Naip6 T A 13: 100,435,936 (GRCm39) E862D probably benign Het
Ncald C T 15: 37,397,324 (GRCm39) A119T probably benign Het
Nipbl T C 15: 8,373,114 (GRCm39) E1044G possibly damaging Het
Nyap2 T C 1: 81,169,602 (GRCm39) S120P probably damaging Het
Oas1a A T 5: 121,043,876 (GRCm39) N85K possibly damaging Het
Or8b12i T C 9: 20,082,324 (GRCm39) Y181C probably benign Het
Pappa2 A T 1: 158,578,133 (GRCm39) D1721E probably damaging Het
Pcid2 A T 8: 13,144,141 (GRCm39) probably null Het
Pou2f2 C T 7: 24,799,581 (GRCm39) A92T possibly damaging Het
Ppp1r16a T C 15: 76,577,268 (GRCm39) L212P probably damaging Het
Ptbp3 A T 4: 59,517,635 (GRCm39) L84Q probably damaging Het
Ptgr2 A T 12: 84,349,096 (GRCm39) Q145L probably benign Het
Pudp T C 18: 50,701,278 (GRCm39) N152D probably benign Het
Rabggta A T 14: 55,958,646 (GRCm39) F62L possibly damaging Het
Rasal3 G A 17: 32,615,324 (GRCm39) Q505* probably null Het
Rbm20 T A 19: 53,852,518 (GRCm39) L1166Q probably damaging Het
Rictor T G 15: 6,789,053 (GRCm39) I223R probably damaging Het
Ripor1 A T 8: 106,343,518 (GRCm39) E270D probably damaging Het
Rorc T C 3: 94,298,480 (GRCm39) C322R probably damaging Het
Rpgrip1l T C 8: 91,959,552 (GRCm39) D1116G probably benign Het
Rsph4a A T 10: 33,789,068 (GRCm39) N638Y probably damaging Het
Scn9a A G 2: 66,396,594 (GRCm39) F100L probably damaging Het
Siglece A G 7: 43,307,219 (GRCm39) V256A probably benign Het
Slc23a2 A T 2: 131,898,686 (GRCm39) L617Q probably damaging Het
Snx9 T C 17: 5,978,531 (GRCm39) I567T possibly damaging Het
Sptan1 C G 2: 29,901,048 (GRCm39) Q1425E probably benign Het
Srd5a3 G A 5: 76,295,552 (GRCm39) V81I probably benign Het
Sugp2 T A 8: 70,706,310 (GRCm39) I790K probably damaging Het
Tbl1xr1 T C 3: 22,245,074 (GRCm39) probably benign Het
Tmem130 A G 5: 144,674,666 (GRCm39) F353S probably damaging Het
Tmem131 T A 1: 36,835,347 (GRCm39) K1591N probably damaging Het
Trim43c T A 9: 88,722,670 (GRCm39) D105E probably benign Het
Urb2 C A 8: 124,756,537 (GRCm39) T748K possibly damaging Het
Vmn2r18 T C 5: 151,499,286 (GRCm39) N393D probably benign Het
Zfp292 G A 4: 34,805,100 (GRCm39) S2648F possibly damaging 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
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
R5086:Syde2 UTSW 3 145,707,163 (GRCm39) nonsense 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'- TCGCCAGTGTTTTGCAAGAATC -3'
(R):5'- ACCGACAGTGATGATGTGAGC -3'

Sequencing Primer
(F):5'- CTTACCGGACTGTGAAGA -3'
(R):5'- TGTGAGCTAACACACGGGCTG -3'
Posted On 2014-07-14