Incidental Mutation 'R0225:Esyt2'
ID 33873
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 038470-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0225 (G1)
Quality Score 130
Status Validated
Chromosome 12
Chromosomal Location 116244816-116354670 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116331330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 736 (N736S)
Ref Sequence ENSEMBL: ENSMUSP00000152444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100986] [ENSMUST00000220720] [ENSMUST00000220816]
AlphaFold Q3TZZ7
Predicted Effect probably damaging
Transcript: ENSMUST00000100986
AA Change: N736S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098548
Gene: ENSMUSG00000021171
AA Change: N736S

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 damaging
Transcript: ENSMUST00000220816
AA Change: N736S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223150
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223181
Meta Mutation Damage Score 0.2495 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,139,378 (GRCm39) L1470Q probably damaging Het
Abraxas2 G A 7: 132,476,584 (GRCm39) R105Q probably damaging Het
Arhgap23 G T 11: 97,335,154 (GRCm39) V70L probably benign Het
Bicd1 T C 6: 149,414,448 (GRCm39) I387T probably benign Het
Cd59b G A 2: 103,909,286 (GRCm39) probably null Het
Chn2 T C 6: 54,267,436 (GRCm39) probably benign Het
Col18a1 T C 10: 76,924,748 (GRCm39) S14G possibly damaging Het
Col5a2 A G 1: 45,446,195 (GRCm39) I461T probably benign Het
Dele1 G A 18: 38,394,317 (GRCm39) V505I probably benign Het
Dnlz T C 2: 26,241,380 (GRCm39) N116S probably damaging Het
F11 T C 8: 45,702,114 (GRCm39) T267A probably benign Het
Fam234b T G 6: 135,194,072 (GRCm39) S242A possibly damaging Het
Gadd45b A G 10: 80,766,181 (GRCm39) N11S probably benign Het
Garnl3 T C 2: 32,896,816 (GRCm39) T608A possibly damaging Het
Gata3 T C 2: 9,879,620 (GRCm39) T119A probably benign Het
Gm10647 A G 9: 66,705,777 (GRCm39) probably benign Het
Gm10936 G A 10: 117,084,035 (GRCm39) noncoding transcript Het
Gzmd A G 14: 56,367,161 (GRCm39) W244R probably damaging Het
Hdac2 T A 10: 36,865,180 (GRCm39) D131E probably benign Het
Hira T A 16: 18,774,921 (GRCm39) F949I probably benign Het
Ighv15-2 T G 12: 114,528,657 (GRCm39) probably benign Het
Il3 A G 11: 54,156,506 (GRCm39) probably null Het
Itgae A C 11: 73,002,168 (GRCm39) M91L probably benign Het
Jkampl A G 6: 73,446,402 (GRCm39) L49P possibly damaging Het
Kat2b A G 17: 53,948,238 (GRCm39) E336G probably damaging Het
Kctd21 T A 7: 96,997,298 (GRCm39) I257N probably benign Het
Kif23 C G 9: 61,832,976 (GRCm39) probably benign Het
Lgi3 A T 14: 70,770,261 (GRCm39) I109L probably benign Het
Lhx9 A T 1: 138,766,417 (GRCm39) C124S probably damaging Het
Lipo4 A G 19: 33,479,006 (GRCm39) V278A probably benign Het
Lrch3 T A 16: 32,782,124 (GRCm39) probably benign Het
Lrp1b T C 2: 40,486,995 (GRCm39) E142G probably damaging Het
Map9 G A 3: 82,267,290 (GRCm39) probably benign Het
Miox C T 15: 89,218,657 (GRCm39) probably benign Het
Mndal A T 1: 173,685,079 (GRCm39) probably benign Het
Mug2 G T 6: 122,051,673 (GRCm39) V952L possibly damaging Het
Nepn A T 10: 52,276,533 (GRCm39) T29S probably damaging Het
Or14a260 A G 7: 85,984,803 (GRCm39) I267T probably benign Het
Or4k5 T G 14: 50,386,092 (GRCm39) K80Q probably damaging Het
Or8d1b A G 9: 38,887,574 (GRCm39) I201V probably benign Het
Or8k53 T C 2: 86,178,072 (GRCm39) I13V possibly damaging Het
Phf3 A T 1: 30,844,146 (GRCm39) D1604E probably benign Het
Plekhn1 T C 4: 156,312,700 (GRCm39) R53G probably benign Het
Prickle1 A G 15: 93,408,658 (GRCm39) L47P possibly damaging Het
Ptar1 T A 19: 23,695,459 (GRCm39) C309S probably benign Het
Rapgef2 A T 3: 79,011,412 (GRCm39) S224R probably damaging Het
Rimoc1 T C 15: 4,015,776 (GRCm39) K263E probably damaging Het
Siglecg G A 7: 43,060,595 (GRCm39) G325D probably damaging Het
Skor2 A T 18: 76,946,793 (GRCm39) I172F unknown Het
Slc9a1 A G 4: 133,147,916 (GRCm39) K645E probably benign Het
St14 T A 9: 31,019,580 (GRCm39) probably null Het
Tas2r120 T A 6: 132,634,552 (GRCm39) Y211* probably null Het
Tbxa2r C A 10: 81,168,734 (GRCm39) T141K possibly damaging Het
Tpd52l1 A G 10: 31,255,252 (GRCm39) S32P probably damaging Het
Ttn T A 2: 76,540,468 (GRCm39) R34173W probably damaging Het
Ttn C A 2: 76,623,474 (GRCm39) V15368L possibly damaging Het
Tyms A G 5: 30,268,256 (GRCm39) I148T probably damaging Het
Vmn1r45 A T 6: 89,910,492 (GRCm39) Y159* probably null Het
Vmn1r58 A C 7: 5,413,865 (GRCm39) S122A probably benign Het
Vmn2r13 C A 5: 109,322,915 (GRCm39) V125L probably benign Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Vps13b T C 15: 35,887,407 (GRCm39) I3272T probably benign Het
Wfdc8 A G 2: 164,439,105 (GRCm39) Y426H probably benign Het
Zfp948 A T 17: 21,807,556 (GRCm39) K249N probably damaging Het
Zfyve1 A G 12: 83,601,847 (GRCm39) probably benign Het
Zyg11a G A 4: 108,061,838 (GRCm39) T321I probably damaging 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
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
R8136:Esyt2 UTSW 12 116,327,079 (GRCm39) missense probably benign
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'- AGTAGCCAGTACAGACACTCAGGG -3'
(R):5'- TTAACAAGCGACTCGTGATGGGG -3'

Sequencing Primer
(F):5'- GTACAGACACTCAGGGTCTAGTC -3'
(R):5'- GCTCTAAGCTAACATTTCATCCAGG -3'
Posted On 2013-05-09