Incidental Mutation 'R6866:Extl2'
ID 535906
Institutional Source Beutler Lab
Gene Symbol Extl2
Ensembl Gene ENSMUSG00000027963
Gene Name exostosin-like glycosyltransferase 2
Synonyms 3000001D04Rik
MMRRC Submission 044965-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.294) question?
Stock # R6866 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 115801111-115822666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115821002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 283 (M283K)
Ref Sequence ENSEMBL: ENSMUSP00000102111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029575] [ENSMUST00000106501] [ENSMUST00000106502]
AlphaFold Q9ES89
Predicted Effect probably damaging
Transcript: ENSMUST00000029575
AA Change: M283K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029575
Gene: ENSMUSG00000027963
AA Change: M283K

DomainStartEndE-ValueType
low complexity region 19 41 N/A INTRINSIC
Pfam:Glyco_transf_64 67 321 8.5e-88 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106501
AA Change: M269K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102110
Gene: ENSMUSG00000027963
AA Change: M269K

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Glyco_transf_64 53 307 1.7e-86 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106502
AA Change: M283K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102111
Gene: ENSMUSG00000027963
AA Change: M283K

DomainStartEndE-ValueType
low complexity region 19 41 N/A INTRINSIC
Pfam:Glyco_transf_64 67 321 1.4e-86 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased production of heparin sulfate and chondroitin sulfate in mouse embryonic fibroblasts, liver and brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A G 6: 85,598,080 (GRCm39) T1438A possibly damaging Het
Als2 T A 1: 59,250,292 (GRCm39) Q484L probably damaging Het
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Bcl2l13 T A 6: 120,839,850 (GRCm39) N49K probably benign Het
Bptf T C 11: 106,964,406 (GRCm39) D1596G probably damaging Het
Brsk1 T C 7: 4,709,406 (GRCm39) M325T probably damaging Het
Caly T C 7: 139,650,532 (GRCm39) M137V probably benign Het
Cdca2 T C 14: 67,931,115 (GRCm39) E526G possibly damaging Het
Cnga4 A G 7: 105,056,952 (GRCm39) S352G possibly damaging Het
Cntnap5c A C 17: 58,399,289 (GRCm39) T381P probably benign Het
Cr2 T A 1: 194,833,999 (GRCm39) Y633F probably damaging Het
Cryba1 T C 11: 77,610,355 (GRCm39) N120S probably benign Het
Cyfip2 G A 11: 46,133,286 (GRCm39) R805* probably null Het
Dnah7c C A 1: 46,696,403 (GRCm39) P2095Q probably damaging Het
Eif3k T C 7: 28,676,651 (GRCm39) E110G possibly damaging Het
Focad T C 4: 88,321,623 (GRCm39) I1658T probably benign Het
Fstl5 A T 3: 76,229,532 (GRCm39) H111L probably damaging Het
Garnl3 A G 2: 32,892,785 (GRCm39) probably null Het
Gm3633 T A 14: 42,462,579 (GRCm39) probably benign Het
Il4i1 T A 7: 44,485,963 (GRCm39) probably null Het
Kcnj6 A T 16: 94,563,536 (GRCm39) C321S probably damaging Het
Kif20a A T 18: 34,761,546 (GRCm39) Y313F probably benign Het
Kmt2d T G 15: 98,755,274 (GRCm39) probably benign Het
Kynu T A 2: 43,453,122 (GRCm39) Y48* probably null Het
Ly9 T C 1: 171,432,847 (GRCm39) I55M probably damaging Het
Mgme1 T C 2: 144,118,439 (GRCm39) V237A probably damaging Het
Mmp16 T A 4: 17,853,800 (GRCm39) L27H probably benign Het
Mtres1 ACTGCACCACCT ACT 10: 43,408,721 (GRCm39) probably benign Het
Myh1 A C 11: 67,115,219 (GRCm39) D1918A probably damaging Het
Myo5a G A 9: 75,047,970 (GRCm39) C266Y probably damaging Het
Nckap5l A G 15: 99,324,349 (GRCm39) I718T probably benign Het
Nptx1 A G 11: 119,437,476 (GRCm39) probably null Het
Or56a42-ps1 T A 7: 104,775,825 (GRCm39) M228L probably benign Het
Or5k16 A G 16: 58,736,351 (GRCm39) Y218H probably damaging Het
Or5p76 A G 7: 108,122,377 (GRCm39) F260S probably damaging Het
Phc3 T A 3: 30,968,680 (GRCm39) K783* probably null Het
Pkdrej A T 15: 85,705,082 (GRCm39) C285S probably damaging Het
Pot1b T A 17: 55,960,474 (GRCm39) T619S possibly damaging Het
Pramel32 T A 4: 88,545,977 (GRCm39) D455V probably damaging Het
Psg21 A T 7: 18,386,209 (GRCm39) V259E probably damaging Het
Pvr A C 7: 19,652,555 (GRCm39) I120S probably benign Het
Rbm17 T G 2: 11,602,901 (GRCm39) I68L probably benign Het
Rnf138 C T 18: 21,135,199 (GRCm39) P28L probably damaging Het
Rnf207 C T 4: 152,396,989 (GRCm39) C385Y possibly damaging Het
Serping1 A C 2: 84,600,577 (GRCm39) V255G probably benign Het
Slc25a3 A T 10: 90,955,567 (GRCm39) V91E probably damaging Het
Slc26a8 T C 17: 28,857,455 (GRCm39) D896G probably benign Het
Slc27a5 T A 7: 12,731,443 (GRCm39) T183S probably benign Het
Slc33a1 A T 3: 63,850,744 (GRCm39) F527I probably benign Het
Sting1 T C 18: 35,872,482 (GRCm39) H50R probably damaging Het
Strn4 A T 7: 16,562,710 (GRCm39) D283V probably damaging Het
Sult1e1 G A 5: 87,734,625 (GRCm39) T107I probably damaging Het
Tango6 G A 8: 107,469,104 (GRCm39) probably null Het
Tecrl G T 5: 83,461,161 (GRCm39) P99T probably damaging Het
Ticrr T C 7: 79,343,705 (GRCm39) L1190P possibly damaging Het
Timm50 C T 7: 28,005,370 (GRCm39) R349H probably damaging Het
Tjp2 A G 19: 24,079,355 (GRCm39) I840T probably damaging Het
Tmem45a2 T A 16: 56,867,386 (GRCm39) N105I probably damaging Het
Tsbp1 T A 17: 34,678,935 (GRCm39) C216S possibly damaging Het
Zfp148 T A 16: 33,288,496 (GRCm39) C162S probably damaging Het
Zfp534 T C 4: 147,758,938 (GRCm39) K577R probably benign Het
Other mutations in Extl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Extl2 APN 3 115,821,131 (GRCm39) missense possibly damaging 0.54
PIT4378001:Extl2 UTSW 3 115,804,339 (GRCm39) start codon destroyed probably null 0.02
R0417:Extl2 UTSW 3 115,818,006 (GRCm39) missense probably benign 0.29
R1500:Extl2 UTSW 3 115,820,789 (GRCm39) missense probably benign 0.33
R2888:Extl2 UTSW 3 115,820,906 (GRCm39) missense probably damaging 1.00
R3836:Extl2 UTSW 3 115,818,006 (GRCm39) missense probably benign 0.29
R4666:Extl2 UTSW 3 115,817,856 (GRCm39) missense probably damaging 1.00
R4940:Extl2 UTSW 3 115,820,841 (GRCm39) missense probably benign 0.05
R5261:Extl2 UTSW 3 115,821,013 (GRCm39) missense probably benign 0.19
R6866:Extl2 UTSW 3 115,821,001 (GRCm39) missense probably damaging 0.97
R7117:Extl2 UTSW 3 115,821,088 (GRCm39) missense probably damaging 1.00
R7529:Extl2 UTSW 3 115,821,055 (GRCm39) missense possibly damaging 0.86
R8409:Extl2 UTSW 3 115,820,911 (GRCm39) missense probably damaging 0.97
R9612:Extl2 UTSW 3 115,821,145 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- TACTCCATGGTGCTCATCGGAG -3'
(R):5'- TGGAGAAGCCACTGAAAACC -3'

Sequencing Primer
(F):5'- GGAGCCTCCTTCTTCAACAG -3'
(R):5'- AAACCCAGCGCGGTGTTTTG -3'
Posted On 2018-10-18