Incidental Mutation 'R8136:Esyt2'
ID 632270
Institutional Source Beutler Lab
Gene Symbol Esyt2
Ensembl Gene ENSMUSG00000021171
Gene Name extended synaptotagmin-like protein 2
Synonyms 2310058N22Rik, D12Ertd551e, 2410017M09Rik, Fam62b, 4921504I16Rik
MMRRC Submission 067564-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8136 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 116244816-116354670 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 116327079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 549 (T549K)
Ref Sequence ENSEMBL: ENSMUSP00000098548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100986] [ENSMUST00000220720] [ENSMUST00000220816]
AlphaFold Q3TZZ7
Predicted Effect probably benign
Transcript: ENSMUST00000100986
AA Change: T549K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098548
Gene: ENSMUSG00000021171
AA Change: T549K

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
transmembrane domain 51 73 N/A INTRINSIC
Pfam:SMP_LBD 115 294 3e-125 PFAM
C2 310 412 1.39e-14 SMART
C2 461 556 2.59e-14 SMART
low complexity region 660 669 N/A INTRINSIC
C2 726 831 5.51e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220720
Predicted Effect probably benign
Transcript: ENSMUST00000220816
AA Change: T549K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.9%
  • 20x: 96.7%
Validation Efficiency 98% (40/41)
MGI Phenotype PHENOTYPE: Mice are viable and fertile without overt morphological defects except reduced FGF-stimulated mouse embryonic fibroblast migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,287,556 (GRCm39) M2462L probably benign Het
Aptx A G 4: 40,688,107 (GRCm39) probably null Het
Bmpr1b A G 3: 141,562,143 (GRCm39) I348T probably damaging Het
Btnl1 T A 17: 34,599,014 (GRCm39) probably null Het
Col27a1 T A 4: 63,202,190 (GRCm39) D960E probably benign Het
Crygn G T 5: 24,956,090 (GRCm39) R172S probably benign Het
Cyp26a1 T C 19: 37,689,654 (GRCm39) I450T probably benign Het
Emc2 A G 15: 43,375,202 (GRCm39) Y233C probably benign Het
Garin5a T C 7: 44,149,704 (GRCm39) F142L probably damaging Het
Gatm T C 2: 122,426,018 (GRCm39) D411G probably damaging Het
Gpr65 T C 12: 98,241,415 (GRCm39) Y23H probably damaging Het
Itpr1 A G 6: 108,415,321 (GRCm39) R1752G probably benign Het
Krtap4-1 GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC 11: 99,518,660 (GRCm39) probably benign Het
Map3k19 A C 1: 127,751,492 (GRCm39) S620A probably damaging Het
Mcm9 A G 10: 53,487,439 (GRCm39) *543Q probably null Het
Mfsd2a A T 4: 122,845,660 (GRCm39) C164S probably benign Het
Mta1 C A 12: 113,095,298 (GRCm39) R484S probably damaging Het
Nlrp9a T G 7: 26,256,678 (GRCm39) F99V probably benign Het
Notch2 G A 3: 98,031,537 (GRCm39) C1137Y probably damaging Het
Or51a6 A T 7: 102,604,448 (GRCm39) M120K probably damaging Het
Pcnx1 A G 12: 81,964,780 (GRCm39) T316A probably benign Het
Peds1 A C 2: 167,486,879 (GRCm39) Y167D probably benign Het
Phf11a A G 14: 59,515,018 (GRCm39) V221A probably benign Het
Pigb A G 9: 72,929,602 (GRCm39) L327P possibly damaging Het
Rab3c A T 13: 110,317,554 (GRCm39) Y110* probably null Het
Sdk2 G A 11: 113,742,539 (GRCm39) T790M probably damaging Het
Skic3 A G 13: 76,261,222 (GRCm39) K131R probably benign Het
Slc22a2 C T 17: 12,824,917 (GRCm39) P260S probably damaging Het
Sppl2a T C 2: 126,755,201 (GRCm39) probably null Het
Tnn T A 1: 159,934,630 (GRCm39) Q1261L probably damaging Het
Treml4 C A 17: 48,571,745 (GRCm39) Y49* probably null Het
Ubr3 T C 2: 69,851,523 (GRCm39) I1827T probably damaging Het
Vrtn C T 12: 84,696,809 (GRCm39) R520C probably damaging Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Wls C A 3: 159,578,761 (GRCm39) Q108K probably damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp39 A T 11: 58,782,228 (GRCm39) V178D probably damaging Het
Zfp777 C A 6: 48,021,559 (GRCm39) R21L probably benign Het
Other mutations in Esyt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Esyt2 APN 12 116,327,064 (GRCm39) missense probably damaging 1.00
IGL01636:Esyt2 APN 12 116,329,550 (GRCm39) critical splice donor site probably null
IGL01912:Esyt2 APN 12 116,303,229 (GRCm39) missense probably damaging 1.00
IGL02310:Esyt2 APN 12 116,329,541 (GRCm39) missense probably benign 0.06
PIT4802001:Esyt2 UTSW 12 116,329,457 (GRCm39) missense probably benign 0.00
R0134:Esyt2 UTSW 12 116,331,330 (GRCm39) missense probably damaging 0.98
R0225:Esyt2 UTSW 12 116,331,330 (GRCm39) missense probably damaging 0.98
R0313:Esyt2 UTSW 12 116,311,428 (GRCm39) missense probably damaging 1.00
R0532:Esyt2 UTSW 12 116,320,818 (GRCm39) splice site probably benign
R2324:Esyt2 UTSW 12 116,331,441 (GRCm39) missense possibly damaging 0.50
R4610:Esyt2 UTSW 12 116,282,510 (GRCm39) missense probably damaging 0.99
R4898:Esyt2 UTSW 12 116,305,708 (GRCm39) missense probably benign 0.06
R4918:Esyt2 UTSW 12 116,287,760 (GRCm39) missense probably benign 0.30
R5052:Esyt2 UTSW 12 116,331,416 (GRCm39) missense probably damaging 1.00
R5222:Esyt2 UTSW 12 116,282,446 (GRCm39) missense probably damaging 1.00
R5800:Esyt2 UTSW 12 116,333,808 (GRCm39) missense possibly damaging 0.94
R6499:Esyt2 UTSW 12 116,284,790 (GRCm39) missense probably damaging 0.98
R6607:Esyt2 UTSW 12 116,332,360 (GRCm39) missense probably benign 0.18
R6951:Esyt2 UTSW 12 116,287,750 (GRCm39) missense probably benign 0.21
R7153:Esyt2 UTSW 12 116,310,128 (GRCm39) missense probably benign 0.00
R7173:Esyt2 UTSW 12 116,327,154 (GRCm39) missense probably benign 0.05
R7227:Esyt2 UTSW 12 116,305,745 (GRCm39) missense probably damaging 1.00
R7248:Esyt2 UTSW 12 116,305,858 (GRCm39) missense probably damaging 1.00
R7509:Esyt2 UTSW 12 116,329,496 (GRCm39) missense probably damaging 1.00
R7780:Esyt2 UTSW 12 116,305,718 (GRCm39) missense probably benign 0.15
R8077:Esyt2 UTSW 12 116,305,848 (GRCm39) missense possibly damaging 0.54
R8264:Esyt2 UTSW 12 116,329,540 (GRCm39) missense probably benign 0.00
R8350:Esyt2 UTSW 12 116,327,102 (GRCm39) missense probably damaging 0.99
R8450:Esyt2 UTSW 12 116,327,102 (GRCm39) missense probably damaging 0.99
R9330:Esyt2 UTSW 12 116,305,765 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCTAACAGTTTTGGACACACTAC -3'
(R):5'- TGCCTGTAGAACCACCTCTG -3'

Sequencing Primer
(F):5'- ACATATTGTGTTTTCTTTTGTGCTG -3'
(R):5'- TCTGCAAGGCTGGGACTGAG -3'
Posted On 2020-06-30