Incidental Mutation 'PIT4802001:Esyt2'
ID 556753
Institutional Source Beutler Lab
Gene Symbol Esyt2
Ensembl Gene ENSMUSG00000021171
Gene Name extended synaptotagmin-like protein 2
Synonyms 2310058N22Rik, D12Ertd551e, 2410017M09Rik, Fam62b, 4921504I16Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4802001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 116244816-116354670 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 116329457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 672 (A672T)
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: A672T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000098548
Gene: ENSMUSG00000021171
AA Change: A672T

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: A672T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 93.6%
  • 3x: 91.0%
  • 10x: 85.4%
  • 20x: 73.7%
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A T 11: 119,902,172 (GRCm39) D741E probably benign Het
Abca16 A G 7: 120,139,351 (GRCm39) D1461G probably benign Het
Adam6a G T 12: 113,509,078 (GRCm39) D484Y probably damaging Het
Akap5 T C 12: 76,376,706 (GRCm39) Y713H probably damaging Het
AW554918 A G 18: 25,473,132 (GRCm39) E312G possibly damaging Het
Car4 G A 11: 84,855,231 (GRCm39) A157T probably damaging Het
Chst9 A T 18: 15,585,849 (GRCm39) M238K probably benign Het
Ctbp2 G A 7: 132,589,974 (GRCm39) H397Y possibly damaging Het
Cyp3a59 A G 5: 146,039,611 (GRCm39) M295V probably benign Het
Daglb T C 5: 143,488,803 (GRCm39) Y586H probably benign Het
Ehbp1l1 G T 19: 5,769,603 (GRCm39) P567T possibly damaging Het
Emilin2 A G 17: 71,580,464 (GRCm39) I754T probably damaging Het
Evx1 G T 6: 52,291,175 (GRCm39) E116* probably null Het
Exph5 T C 9: 53,286,278 (GRCm39) S1120P probably damaging Het
Fam184a A T 10: 53,560,450 (GRCm39) L515* probably null Het
Flt4 T A 11: 49,523,996 (GRCm39) D525E probably benign Het
Galt T C 4: 41,756,764 (GRCm39) W135R probably damaging Het
Ifitm6 A T 7: 140,596,648 (GRCm39) C42S probably damaging Het
Ift172 A G 5: 31,442,610 (GRCm39) S186P probably benign Het
Kcnk3 A G 5: 30,779,712 (GRCm39) E254G probably damaging Het
Kmt2b A G 7: 30,278,996 (GRCm39) S1509P probably damaging Het
Ky T A 9: 102,414,972 (GRCm39) S295T probably benign Het
Lrba T A 3: 86,571,801 (GRCm39) Y2368* probably null Het
Mtmr4 T A 11: 87,501,953 (GRCm39) V669E probably benign Het
Myh10 C T 11: 68,655,918 (GRCm39) R471C probably damaging Het
Nav1 G A 1: 135,380,671 (GRCm39) T1416I unknown Het
Nrip1 A C 16: 76,090,157 (GRCm39) S467A probably damaging Het
Ntrk1 T A 3: 87,695,941 (GRCm39) N190Y probably damaging Het
Or14a256 A T 7: 86,265,763 (GRCm39) L30Q probably null Het
Or5h25 A C 16: 58,930,964 (GRCm39) M3R probably benign Het
Pdxp A G 15: 78,802,611 (GRCm39) S282G probably damaging Het
Phtf2 A T 5: 21,006,904 (GRCm39) S220T probably damaging Het
Piezo2 A T 18: 63,157,540 (GRCm39) V2390E probably damaging Het
Pop1 T G 15: 34,529,229 (GRCm39) L783R probably benign Het
Prf1 G A 10: 61,135,972 (GRCm39) A83T probably benign Het
Rab4b A G 7: 26,875,267 (GRCm39) V50A probably benign Het
Rtn1 T A 12: 72,351,100 (GRCm39) T370S probably benign Het
Sdr16c5 T A 4: 4,012,423 (GRCm39) I123F probably damaging Het
Smg6 T A 11: 75,046,991 (GRCm39) V1228D probably damaging Het
Smim19 A G 8: 22,963,539 (GRCm39) V23A probably benign Het
Sox13 A T 1: 133,313,996 (GRCm39) I346N probably damaging Het
Tap1 T A 17: 34,412,165 (GRCm39) Y457N probably damaging Het
Tbck C T 3: 132,458,427 (GRCm39) P686S probably damaging Het
Tcof1 A G 18: 60,965,010 (GRCm39) S570P unknown Het
Tmc5 A T 7: 118,271,449 (GRCm39) M921L probably benign Het
Ttc6 A G 12: 57,772,462 (GRCm39) Y1594C possibly damaging Het
Virma T A 4: 11,546,008 (GRCm39) H1615Q probably damaging Het
Vmn1r19 T A 6: 57,382,037 (GRCm39) Y197N probably damaging Het
Vps13c T C 9: 67,845,068 (GRCm39) F2051L probably damaging Het
Wdr6 C T 9: 108,451,765 (GRCm39) C706Y probably damaging Het
Zfand4 A G 6: 116,261,736 (GRCm39) N100D 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
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
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'- AAGTGAAACGGCCCTCTGTC -3'
(R):5'- GAGAAATTAAGCTCCTATCTCCCTC -3'

Sequencing Primer
(F):5'- AAATCTCAGATGTCTGCGTCG -3'
(R):5'- CCTCCCTGTGGCATGTG -3'
Posted On 2019-06-07