Incidental Mutation 'PIT4378001:Extl2'
ID 554977
Institutional Source Beutler Lab
Gene Symbol Extl2
Ensembl Gene ENSMUSG00000027963
Gene Name exostosin-like glycosyltransferase 2
Synonyms 3000001D04Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.306) question?
Stock # PIT4378001 (G1)
Quality Score 191.009
Status Not validated
Chromosome 3
Chromosomal Location 115801111-115822666 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to G at 115804339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 1 (M1R)
Ref Sequence ENSEMBL: ENSMUSP00000029575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029575] [ENSMUST00000067485] [ENSMUST00000106501] [ENSMUST00000106502]
AlphaFold Q9ES89
PDB Structure Crystal structure of mouse alpha-1,4-N-acetylhexosaminyltransferase (EXTL2) [X-RAY DIFFRACTION]
crystal structure of mouse alpha-1,4-N-acetylhexosaminyltransferase (EXTL2) in complex with UDPGalNAc [X-RAY DIFFRACTION]
Crystal structure of mouse alpha-1,4-N-acetylhexosaminotransferase (EXTL2) in complex with UDPGlcNAc [X-RAY DIFFRACTION]
Crystal structure of mouse alpha-1,4-N-acetylhexosaminyltransferase (EXTL2) with UDP and GlcUAb(1-3)Galb(1-O)-naphthalenelmethanol an acceptor substrate analog [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000029575
AA Change: M1R

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000029575
Gene: ENSMUSG00000027963
AA Change: M1R

DomainStartEndE-ValueType
low complexity region 19 41 N/A INTRINSIC
Pfam:Glyco_transf_64 67 321 8.5e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000067485
SMART Domains Protein: ENSMUSP00000065254
Gene: ENSMUSG00000054414

DomainStartEndE-ValueType
Pfam:Cation_efflux 38 296 3.3e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106501
SMART Domains Protein: ENSMUSP00000102110
Gene: ENSMUSG00000027963

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Glyco_transf_64 53 307 1.7e-86 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106502
AA Change: M1R

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000102111
Gene: ENSMUSG00000027963
AA Change: M1R

DomainStartEndE-ValueType
low complexity region 19 41 N/A INTRINSIC
Pfam:Glyco_transf_64 67 321 1.4e-86 PFAM
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.8%
  • 10x: 85.0%
  • 20x: 72.2%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik T C 11: 59,099,802 (GRCm39) V100A probably benign Het
Adamtsl1 T C 4: 86,117,601 (GRCm39) V188A possibly damaging Het
Aldh6a1 T C 12: 84,488,646 (GRCm39) D80G probably benign Het
Ankrd50 T C 3: 38,509,412 (GRCm39) Q62R possibly damaging Het
Aopep T C 13: 63,163,021 (GRCm39) L14P probably damaging Het
Arrdc1 T A 2: 24,816,645 (GRCm39) Y177F probably damaging Het
Asap1 C T 15: 64,007,697 (GRCm39) R384Q probably damaging Het
Atxn2l A T 7: 126,096,443 (GRCm39) V433D probably benign Het
Bbs1 G A 19: 4,941,703 (GRCm39) A529V probably benign Het
Bbx G A 16: 50,100,836 (GRCm39) R20* probably null Het
Bend5 T C 4: 111,288,304 (GRCm39) V106A probably benign Het
C1galt1 A G 6: 7,863,944 (GRCm39) N8S probably benign Het
Cdc42ep1 G A 15: 78,733,880 (GRCm39) D327N possibly damaging Het
Cep162 A G 9: 87,099,198 (GRCm39) S767P probably benign Het
Cep43 T C 17: 8,401,105 (GRCm39) S209P probably damaging Het
Csmd1 T C 8: 15,945,728 (GRCm39) T3562A probably damaging Het
Dnah7a A G 1: 53,570,362 (GRCm39) S1815P probably damaging Het
Ei24 A T 9: 36,697,320 (GRCm39) L136Q probably damaging Het
Fat3 T C 9: 16,288,104 (GRCm39) E473G probably benign Het
Fcgbpl1 G A 7: 27,853,889 (GRCm39) D1618N possibly damaging Het
Fhip1a A G 3: 85,637,858 (GRCm39) L147P probably damaging Het
G6pc3 T A 11: 102,080,827 (GRCm39) W26R probably damaging Het
Hc T A 2: 34,921,876 (GRCm39) Y610F probably benign Het
Hecw1 T C 13: 14,552,368 (GRCm39) D77G probably damaging Het
Hgf T C 5: 16,816,860 (GRCm39) V497A probably damaging Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,193,999 (GRCm39) probably benign Het
Hyou1 A C 9: 44,302,148 (GRCm39) D968A probably benign Het
Jmjd1c T A 10: 67,065,692 (GRCm39) S1525T probably damaging Het
Kcnc4 G A 3: 107,354,879 (GRCm39) T523I probably benign Het
Kcng1 C T 2: 168,104,604 (GRCm39) C414Y probably damaging Het
Klhdc10 T C 6: 30,447,411 (GRCm39) I204T probably damaging Het
Krt18 A T 15: 101,938,358 (GRCm39) T194S probably benign Het
Krt76 A C 15: 101,800,842 (GRCm39) N151K probably damaging Het
Krtap31-2 A G 11: 99,827,542 (GRCm39) T125A possibly damaging Het
Lama5 A G 2: 179,831,238 (GRCm39) V1807A possibly damaging Het
Lats1 T G 10: 7,581,369 (GRCm39) V718G probably damaging Het
Mef2b A G 8: 70,616,910 (GRCm39) K4E probably damaging Het
Mertk T C 2: 128,624,537 (GRCm39) probably null Het
Mroh8 A G 2: 157,070,620 (GRCm39) V577A possibly damaging Het
Mtcl1 T G 17: 66,745,274 (GRCm39) N381T probably damaging Het
Nfyc T A 4: 120,647,688 (GRCm39) probably null Het
Nol4 C A 18: 23,172,933 (GRCm39) W56L probably damaging Het
Notch2 A T 3: 98,050,272 (GRCm39) D1849V probably damaging Het
Or10ad1 G A 15: 98,105,452 (GRCm39) T271I probably damaging Het
Or10j7 T C 1: 173,011,381 (GRCm39) T207A probably benign Het
Or14c45 A T 7: 86,176,306 (GRCm39) T114S possibly damaging Het
Or4n4b T C 14: 50,536,355 (GRCm39) N137S probably benign Het
Or5an10 A G 19: 12,276,076 (GRCm39) M140T probably damaging Het
Or7g28 T A 9: 19,272,471 (GRCm39) Y60F probably damaging Het
Or8s5 A G 15: 98,238,153 (GRCm39) V239A possibly damaging Het
Oxr1 G A 15: 41,664,978 (GRCm39) V138I probably benign Het
Pars2 A G 4: 106,511,490 (GRCm39) E424G possibly damaging Het
Peli2 C A 14: 48,405,726 (GRCm39) Y50* probably null Het
Plag1 T A 4: 3,905,492 (GRCm39) H66L probably benign Het
Psme4 T C 11: 30,771,079 (GRCm39) probably benign Het
Robo1 A T 16: 72,801,423 (GRCm39) S1016C probably damaging Het
Rrbp1 A G 2: 143,816,460 (GRCm39) V723A probably benign Het
Sgip1 C A 4: 102,778,280 (GRCm39) D292E unknown Het
Skint4 T A 4: 111,944,232 (GRCm39) C23S probably benign Het
Slc22a28 A C 19: 8,049,279 (GRCm39) S323R probably damaging Het
Slc41a3 A G 6: 90,617,891 (GRCm39) T306A probably benign Het
Spata13 A G 14: 60,987,445 (GRCm39) M868V probably damaging Het
Spata6 T G 4: 111,603,378 (GRCm39) I31S possibly damaging Het
Sycp3 A T 10: 88,302,366 (GRCm39) K119* probably null Het
Tlk2 T A 11: 105,172,046 (GRCm39) S739T unknown Het
Trim10 T C 17: 37,188,020 (GRCm39) V412A probably damaging Het
Ttc3 T A 16: 94,211,765 (GRCm39) F377I probably benign Het
Uck1 T A 2: 32,146,046 (GRCm39) H283L probably damaging Het
Unc5a T C 13: 55,143,681 (GRCm39) Y122H possibly damaging Het
Uncx C T 5: 139,530,377 (GRCm39) R152* probably null Het
Usp44 A G 10: 93,681,517 (GRCm39) probably benign Het
Vamp2 A C 11: 68,980,564 (GRCm39) D44A probably benign Het
Vmn2r83 A G 10: 79,304,849 (GRCm39) T20A probably benign Het
Vmn2r84 A T 10: 130,221,784 (GRCm39) I812N probably damaging Het
Vrtn T G 12: 84,695,943 (GRCm39) L231R probably damaging Het
Wdr75 A G 1: 45,859,333 (GRCm39) T677A probably damaging Het
Xylt1 C A 7: 117,148,100 (GRCm39) S221R possibly damaging Het
Zscan22 A G 7: 12,637,983 (GRCm39) E125G possibly damaging Het
Zxdc A T 6: 90,350,698 (GRCm39) H383L probably damaging Het
Other mutations in Extl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Extl2 APN 3 115,821,131 (GRCm39) missense possibly damaging 0.54
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 3 115,821,002 (GRCm39) missense probably damaging 0.99
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'- CTGCAGTGTTAGCATCAGCC -3'
(R):5'- TCCATGGATGAATAAATACGCATCC -3'

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