Incidental Mutation 'R4222:Semp2l2a'
ID 319406
Institutional Source Beutler Lab
Gene Symbol Semp2l2a
Ensembl Gene ENSMUSG00000057116
Gene Name SUMO/sentrin specific peptidase 2-like 2A
Synonyms AF366264
MMRRC Submission 041042-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.413) question?
Stock # R4222 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 13835233-13838389 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13838061 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 10 (E10G)
Ref Sequence ENSEMBL: ENSMUSP00000096518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071308]
AlphaFold G3X9P9
Predicted Effect probably benign
Transcript: ENSMUST00000071308
AA Change: E10G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096518
Gene: ENSMUSG00000057116
AA Change: E10G

DomainStartEndE-ValueType
Pfam:Peptidase_C48 322 501 1.9e-45 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 91% (49/54)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 A G 17: 55,785,121 (GRCm38) Y127C probably damaging Het
Aif1l A T 2: 31,962,239 (GRCm38) S40C probably damaging Het
Alkal1 A G 1: 6,388,615 (GRCm38) K76R probably damaging Het
Atm T C 9: 53,480,669 (GRCm38) S1807G probably benign Het
Bhmt-ps1 T A 4: 26,369,352 (GRCm38) noncoding transcript Het
Brd10 A T 19: 29,718,749 (GRCm38) S1115T probably benign Het
Cyp3a11 A T 5: 145,860,466 (GRCm38) Y368N probably damaging Het
Gar1 A T 3: 129,830,806 (GRCm38) probably benign Het
Gm5265 A T 1: 169,453,801 (GRCm38) noncoding transcript Het
Gm7964 T G 7: 83,756,822 (GRCm38) N281K probably damaging Het
Grin1 T C 2: 25,297,320 (GRCm38) probably benign Het
H1f5 A T 13: 21,779,977 (GRCm38) probably benign Het
Hapln4 T A 8: 70,086,960 (GRCm38) W214R probably damaging Het
Ift56 A G 6: 38,395,075 (GRCm38) Y200C probably damaging Het
Irgq C A 7: 24,533,625 (GRCm38) A297D possibly damaging Het
Kri1 T C 9: 21,281,063 (GRCm38) E145G probably benign Het
Lama3 T C 18: 12,450,403 (GRCm38) C683R probably damaging Het
Mrpl22 T A 11: 58,171,867 (GRCm38) probably benign Het
Myo7a T A 7: 98,073,229 (GRCm38) Q1163L possibly damaging Het
Nipsnap3a T A 4: 52,997,251 (GRCm38) D172E probably benign Het
Nrxn3 G T 12: 89,532,992 (GRCm38) G718* probably null Het
Olfm3 C T 3: 115,090,171 (GRCm38) Q41* probably null Het
Or52z12 A G 7: 103,584,759 (GRCm38) T246A probably damaging Het
Or8u8 G T 2: 86,181,997 (GRCm38) T38K probably damaging Het
Parm1 G A 5: 91,593,867 (GRCm38) M31I probably benign Het
Phc3 A T 3: 30,936,819 (GRCm38) S383R probably damaging Het
Pkn2 A T 3: 142,793,866 (GRCm38) L950* probably null Het
Plec C T 15: 76,177,319 (GRCm38) R2671H probably damaging Het
Ptbp1 T C 10: 79,859,213 (GRCm38) I125T probably benign Het
Ptch1 C T 13: 63,534,329 (GRCm38) R537H probably damaging Het
Ptk7 A T 17: 46,574,463 (GRCm38) M679K probably benign Het
Ptx3 C T 3: 66,224,706 (GRCm38) T216I probably damaging Het
Rrp8 T C 7: 105,734,022 (GRCm38) I346V possibly damaging Het
Rsrc1 A G 3: 66,994,567 (GRCm38) K17E unknown Het
Ryr2 T A 13: 11,737,873 (GRCm38) E1854V possibly damaging Het
Slc25a45 A T 19: 5,880,118 (GRCm38) I39F probably damaging Het
Spag5 G A 11: 78,304,511 (GRCm38) V215I probably damaging Het
Ston1 A G 17: 88,636,771 (GRCm38) Y535C probably damaging Het
Tbc1d14 A T 5: 36,493,108 (GRCm38) S395T probably benign Het
Tlr11 C T 14: 50,361,849 (GRCm38) P431S probably damaging Het
Trerf1 G T 17: 47,314,801 (GRCm38) noncoding transcript Het
Trim43b T A 9: 89,090,639 (GRCm38) Q154L probably benign Het
Vmn1r49 A G 6: 90,072,246 (GRCm38) F258S probably benign Het
Vmn1r-ps103 C A 13: 22,442,028 (GRCm38) noncoding transcript Het
Vmn2r14 A G 5: 109,216,283 (GRCm38) M589T probably benign Het
Vmn2r60 A T 7: 42,116,528 (GRCm38) T20S probably benign Het
Zbtb5 A G 4: 44,993,855 (GRCm38) probably null Het
Zfp35 T G 18: 24,003,189 (GRCm38) F197V possibly damaging Het
Other mutations in Semp2l2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02291:Semp2l2a APN 8 13,837,704 (GRCm38) missense probably benign 0.03
IGL02647:Semp2l2a APN 8 13,836,979 (GRCm38) missense probably damaging 0.96
IGL03118:Semp2l2a APN 8 13,838,096 (GRCm38) utr 5 prime probably benign
FR4342:Semp2l2a UTSW 8 13,837,613 (GRCm38) missense probably benign 0.00
R0636:Semp2l2a UTSW 8 13,837,870 (GRCm38) missense probably benign 0.00
R1796:Semp2l2a UTSW 8 13,836,816 (GRCm38) nonsense probably null
R1913:Semp2l2a UTSW 8 13,837,143 (GRCm38) missense probably benign 0.16
R2353:Semp2l2a UTSW 8 13,836,951 (GRCm38) missense probably damaging 1.00
R2944:Semp2l2a UTSW 8 13,837,212 (GRCm38) missense probably damaging 1.00
R3714:Semp2l2a UTSW 8 13,836,736 (GRCm38) missense probably benign 0.04
R4628:Semp2l2a UTSW 8 13,836,625 (GRCm38) missense probably damaging 1.00
R4801:Semp2l2a UTSW 8 13,836,970 (GRCm38) missense possibly damaging 0.93
R4802:Semp2l2a UTSW 8 13,836,970 (GRCm38) missense possibly damaging 0.93
R4836:Semp2l2a UTSW 8 13,838,007 (GRCm38) missense probably benign
R5143:Semp2l2a UTSW 8 13,836,844 (GRCm38) missense possibly damaging 0.87
R5637:Semp2l2a UTSW 8 13,837,713 (GRCm38) missense possibly damaging 0.46
R5930:Semp2l2a UTSW 8 13,837,263 (GRCm38) missense probably benign 0.06
R6540:Semp2l2a UTSW 8 13,837,573 (GRCm38) missense probably benign 0.07
R6556:Semp2l2a UTSW 8 13,837,690 (GRCm38) nonsense probably null
R6724:Semp2l2a UTSW 8 13,837,083 (GRCm38) missense probably damaging 1.00
R7131:Semp2l2a UTSW 8 13,836,982 (GRCm38) missense probably damaging 0.98
R7148:Semp2l2a UTSW 8 13,837,996 (GRCm38) missense probably benign 0.01
R7660:Semp2l2a UTSW 8 13,837,995 (GRCm38) missense probably benign 0.06
R8198:Semp2l2a UTSW 8 13,837,056 (GRCm38) missense probably benign 0.11
R8483:Semp2l2a UTSW 8 13,838,229 (GRCm38) start gained probably benign
R9090:Semp2l2a UTSW 8 13,836,697 (GRCm38) missense possibly damaging 0.53
R9271:Semp2l2a UTSW 8 13,836,697 (GRCm38) missense possibly damaging 0.53
X0020:Semp2l2a UTSW 8 13,836,847 (GRCm38) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGTTCTCTCGGGAGCTCTAG -3'
(R):5'- TTTGCGACCTTGGACCAACC -3'

Sequencing Primer
(F):5'- AGCTCTAGGTCTTGAGGCTCC -3'
(R):5'- GCCAGGTATAAGGTTGCT -3'
Posted On 2015-06-10