Incidental Mutation 'R6352:Syde2'
ID 513270
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 044504-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R6352 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 145693625-145727475 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 145704229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 127 (E127*)
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: E394*
SMART Domains Protein: ENSMUSP00000041897
Gene: ENSMUSG00000036863
AA Change: E394*

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
AA Change: E126*
SMART Domains Protein: ENSMUSP00000142954
Gene: ENSMUSG00000036863
AA Change: E126*

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: E127*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 96% (48/50)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T C 17: 48,347,945 (GRCm39) S120G probably benign Het
Abca13 G A 11: 9,259,139 (GRCm39) probably null Het
Aco1 G A 4: 40,186,367 (GRCm39) R593Q probably benign Het
Adgra3 T A 5: 50,136,478 (GRCm39) D669V probably benign Het
Adgra3 T A 5: 50,147,592 (GRCm39) M483L probably benign Het
Ccdc42 T C 11: 68,485,191 (GRCm39) V88A probably damaging Het
Cdh16 G C 8: 105,343,624 (GRCm39) S624C probably damaging Het
Cpt1c A T 7: 44,616,219 (GRCm39) probably null Het
Cul9 T C 17: 46,822,241 (GRCm39) T1795A probably benign Het
Dnah2 C T 11: 69,339,053 (GRCm39) V3098I probably damaging Het
Fbxl16 T C 17: 26,037,919 (GRCm39) L426P probably damaging Het
Flt4 T C 11: 49,534,333 (GRCm39) I1168T probably benign Het
Fmo5 T C 3: 97,552,991 (GRCm39) V313A probably benign Het
Foxj3 A G 4: 119,442,975 (GRCm39) N133S probably damaging Het
Gbp8 T C 5: 105,162,926 (GRCm39) I489M possibly damaging Het
Gm10801 TC TCGAC 2: 98,494,151 (GRCm39) probably benign Het
Hdgfl1 T G 13: 26,953,733 (GRCm39) E113D probably benign Het
Heatr5a A T 12: 51,997,949 (GRCm39) S317T possibly damaging Het
Hycc2 A G 1: 58,596,471 (GRCm39) V38A probably damaging Het
Insr C T 8: 3,223,479 (GRCm39) probably null Het
Iqcf5 A G 9: 106,392,929 (GRCm39) E62G possibly damaging Het
Kcnj3 G A 2: 55,327,561 (GRCm39) V117I probably benign Het
Klf9 T A 19: 23,119,138 (GRCm39) M7K probably benign Het
Mboat1 G A 13: 30,386,403 (GRCm39) G139E possibly damaging Het
Mical3 T C 6: 120,929,434 (GRCm39) T1811A probably damaging Het
Mllt10 A C 2: 18,128,604 (GRCm39) K117T probably damaging Het
Mpped1 A G 15: 83,720,564 (GRCm39) D8G probably damaging Het
Myh4 A T 11: 67,143,108 (GRCm39) D1012V probably damaging Het
Myo9b C A 8: 71,801,054 (GRCm39) P1070T probably benign Het
Myo9b C T 8: 71,801,055 (GRCm39) P1071L probably benign Het
Nlrp1b T A 11: 71,072,527 (GRCm39) I439F probably damaging Het
Nlrp9a T A 7: 26,257,051 (GRCm39) I134N probably damaging Het
Nop2 C T 6: 125,114,170 (GRCm39) T212M probably benign Het
Notch4 T C 17: 34,786,435 (GRCm39) C188R probably damaging Het
Or10q12 A T 19: 13,745,828 (GRCm39) M41L probably benign Het
Or2ag19 G T 7: 106,444,429 (GRCm39) V204F probably damaging Het
Pgd C T 4: 149,245,209 (GRCm39) probably null Het
Plet1 T C 9: 50,412,407 (GRCm39) S142P probably damaging Het
Ptk7 A T 17: 46,887,816 (GRCm39) W539R probably benign Het
Ptprd A T 4: 76,009,789 (GRCm39) probably null Het
Rgs22 T G 15: 36,093,067 (GRCm39) Q402P probably damaging Het
Rpl10a T C 17: 28,549,820 (GRCm39) V167A possibly damaging Het
Sdr16c5 A G 4: 4,016,421 (GRCm39) S2P probably benign Het
Slc14a2 T C 18: 78,252,309 (GRCm39) M1V probably null Het
Spta1 T A 1: 174,039,212 (GRCm39) M1185K possibly damaging Het
Thoc2l A G 5: 104,668,064 (GRCm39) E862G probably benign Het
Ugt2b38 T A 5: 87,571,860 (GRCm39) R57S possibly damaging Het
Wdr11 C T 7: 129,208,399 (GRCm39) L385F possibly damaging Het
Wdr74 T C 19: 8,716,822 (GRCm39) V200A 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
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
R5086:Syde2 UTSW 3 145,707,163 (GRCm39) nonsense probably null
R5087:Syde2 UTSW 3 145,707,163 (GRCm39) nonsense probably null
R5087:Syde2 UTSW 3 145,712,881 (GRCm39) missense probably damaging 1.00
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
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'- CATGACACTTAGGTATCCACTTGG -3'
(R):5'- AATAGCGTCTGTCCTGGCTTC -3'

Sequencing Primer
(F):5'- ACAGGGTTTCTCTGTGCAGACC -3'
(R):5'- CGCTTGCTCTCGTCCAGAC -3'
Posted On 2018-04-27