Incidental Mutation 'R6898:Serinc2'
ID 538445
Institutional Source Beutler Lab
Gene Symbol Serinc2
Ensembl Gene ENSMUSG00000023232
Gene Name serine incorporator 2
Synonyms Tde2l, 2310004K20Rik, FKSG84, TDE2
MMRRC Submission 044992-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R6898 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 130147289-130172993 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130149235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 322 (D322E)
Ref Sequence ENSEMBL: ENSMUSP00000112535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105996] [ENSMUST00000120126] [ENSMUST00000122374]
AlphaFold Q8K0E7
Predicted Effect probably benign
Transcript: ENSMUST00000105996
AA Change: D377E

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101618
Gene: ENSMUSG00000023232
AA Change: D377E

DomainStartEndE-ValueType
Pfam:Serinc 15 449 4.1e-162 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120126
AA Change: D386E

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113044
Gene: ENSMUSG00000023232
AA Change: D386E

DomainStartEndE-ValueType
Pfam:Serinc 25 457 1.4e-158 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122374
AA Change: D322E

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000112535
Gene: ENSMUSG00000023232
AA Change: D322E

DomainStartEndE-ValueType
Pfam:Serinc 1 394 2.9e-148 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.5%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd7 G T 6: 18,868,100 (GRCm39) probably null Het
Aoc1l2 A T 6: 48,907,975 (GRCm39) Y325F probably damaging Het
Aplnr A T 2: 84,970,155 (GRCm39) probably benign Het
Capns2 T C 8: 93,628,605 (GRCm39) S165P probably damaging Het
Col25a1 T C 3: 130,378,377 (GRCm39) probably null Het
Crocc2 T C 1: 93,143,304 (GRCm39) V1302A probably benign Het
Cul9 C A 17: 46,821,952 (GRCm39) R1841M possibly damaging Het
Dnhd1 T C 7: 105,336,584 (GRCm39) L1213P probably damaging Het
Dscam A T 16: 96,631,100 (GRCm39) I305K probably benign Het
Dsp A G 13: 38,376,193 (GRCm39) E1326G possibly damaging Het
Eif4a3l1 T A 6: 136,305,617 (GRCm39) V26E probably benign Het
Emc9 A G 14: 55,822,367 (GRCm39) probably null Het
Eppk1 A C 15: 75,996,126 (GRCm39) S252A probably benign Het
Fn1 T A 1: 71,639,572 (GRCm39) T1830S probably damaging Het
Fryl A T 5: 73,179,485 (GRCm39) M2974K probably damaging Het
Gdpd3 C A 7: 126,370,201 (GRCm39) S250* probably null Het
Gnl3 A T 14: 30,735,136 (GRCm39) S485R probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Hsd17b3 T C 13: 64,207,339 (GRCm39) Y234C probably benign Het
Lima1 T C 15: 99,679,148 (GRCm39) H271R possibly damaging Het
Nfu1 G A 6: 86,994,034 (GRCm39) probably null Het
Noto A G 6: 85,404,942 (GRCm39) E97G probably damaging Het
Ntng1 T C 3: 109,779,534 (GRCm39) K348E probably damaging Het
Or2y13 G A 11: 49,414,536 (GRCm39) probably benign Het
Or4a70 C T 2: 89,324,594 (GRCm39) G21R possibly damaging Het
Osmr C A 15: 6,845,364 (GRCm39) V801F probably damaging Het
Papln A G 12: 83,824,234 (GRCm39) E554G probably benign Het
Pitrm1 T C 13: 6,605,495 (GRCm39) L175P probably damaging Het
Pramel22 A T 4: 143,382,053 (GRCm39) N214K probably damaging Het
Pramel7 T C 2: 87,320,070 (GRCm39) T408A probably damaging Het
Setx T C 2: 29,038,120 (GRCm39) V1535A probably benign Het
Sgce A T 6: 4,689,666 (GRCm39) V389E probably damaging Het
Snx11 G A 11: 96,659,888 (GRCm39) T267I probably benign Het
Spata6l T G 19: 28,921,688 (GRCm39) Q146P probably benign Het
Specc1 G A 11: 62,009,162 (GRCm39) S306N probably benign Het
Spocd1 A G 4: 129,850,305 (GRCm39) probably benign Het
St7 T A 6: 17,854,945 (GRCm39) V294D probably damaging Het
Stab1 C T 14: 30,880,920 (GRCm39) R624Q probably benign Het
Tcf21 T C 10: 22,695,403 (GRCm39) I134V probably benign Het
Tgfb2 T A 1: 186,364,697 (GRCm39) I266F probably damaging Het
Tgfbr3l A G 8: 4,300,365 (GRCm39) I209M possibly damaging Het
Tmcc3 A G 10: 94,387,034 (GRCm39) probably null Het
Toe1 A G 4: 116,664,671 (GRCm39) S16P probably damaging Het
Vps16 T C 2: 130,279,601 (GRCm39) V38A possibly damaging Het
Wnk2 G T 13: 49,224,557 (GRCm39) D1001E probably damaging Het
Other mutations in Serinc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00913:Serinc2 APN 4 130,158,201 (GRCm39) missense possibly damaging 0.88
IGL02031:Serinc2 APN 4 130,158,237 (GRCm39) nonsense probably null
IGL02551:Serinc2 APN 4 130,154,567 (GRCm39) missense probably benign 0.01
R1455:Serinc2 UTSW 4 130,158,133 (GRCm39) missense probably damaging 0.96
R1520:Serinc2 UTSW 4 130,154,543 (GRCm39) missense probably benign 0.00
R2059:Serinc2 UTSW 4 130,154,578 (GRCm39) missense probably damaging 1.00
R2869:Serinc2 UTSW 4 130,159,005 (GRCm39) missense probably damaging 1.00
R2869:Serinc2 UTSW 4 130,159,005 (GRCm39) missense probably damaging 1.00
R3160:Serinc2 UTSW 4 130,154,528 (GRCm39) missense probably benign
R3162:Serinc2 UTSW 4 130,154,528 (GRCm39) missense probably benign
R4497:Serinc2 UTSW 4 130,147,847 (GRCm39) missense possibly damaging 0.67
R4735:Serinc2 UTSW 4 130,157,438 (GRCm39) missense probably benign 0.13
R4987:Serinc2 UTSW 4 130,156,820 (GRCm39) splice site probably null
R5569:Serinc2 UTSW 4 130,172,272 (GRCm39) missense probably benign 0.17
R5681:Serinc2 UTSW 4 130,158,869 (GRCm39) missense probably damaging 1.00
R5946:Serinc2 UTSW 4 130,149,314 (GRCm39) missense possibly damaging 0.91
R6556:Serinc2 UTSW 4 130,152,064 (GRCm39) missense probably damaging 1.00
R7264:Serinc2 UTSW 4 130,152,052 (GRCm39) missense probably benign 0.00
R7526:Serinc2 UTSW 4 130,152,583 (GRCm39) missense probably benign 0.03
R7835:Serinc2 UTSW 4 130,169,280 (GRCm39) missense unknown
R8744:Serinc2 UTSW 4 130,158,988 (GRCm39) start gained probably benign
R8819:Serinc2 UTSW 4 130,149,172 (GRCm39) missense probably damaging 1.00
R8820:Serinc2 UTSW 4 130,149,172 (GRCm39) missense probably damaging 1.00
R9335:Serinc2 UTSW 4 130,158,220 (GRCm39) missense probably benign 0.01
R9419:Serinc2 UTSW 4 130,149,315 (GRCm39) missense probably damaging 0.99
R9542:Serinc2 UTSW 4 130,152,516 (GRCm39) nonsense probably null
R9688:Serinc2 UTSW 4 130,158,133 (GRCm39) missense probably damaging 0.96
Z1176:Serinc2 UTSW 4 130,147,788 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGAACACCCATGAGTAGCTGG -3'
(R):5'- CAAGCCCATGCAGTACTGTG -3'

Sequencing Primer
(F):5'- CCCATGAGTAGCTGGGGGAAAC -3'
(R):5'- CAGTACTGTGATGGTTTCCAGACAC -3'
Posted On 2018-11-06