Incidental Mutation 'R5261:Extl2'
ID 401424
Institutional Source Beutler Lab
Gene Symbol Extl2
Ensembl Gene ENSMUSG00000027963
Gene Name exostosin-like glycosyltransferase 2
Synonyms 3000001D04Rik
MMRRC Submission 042830-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.294) question?
Stock # R5261 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 115801111-115822666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 115821013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 273 (A273T)
Ref Sequence ENSEMBL: ENSMUSP00000102110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029575] [ENSMUST00000106501] [ENSMUST00000106502]
AlphaFold Q9ES89
Predicted Effect probably benign
Transcript: ENSMUST00000029575
AA Change: A287T

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000029575
Gene: ENSMUSG00000027963
AA Change: A287T

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: ENSMUST00000106501
AA Change: A273T

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102110
Gene: ENSMUSG00000027963
AA Change: A273T

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Glyco_transf_64 53 307 1.7e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106502
AA Change: A287T

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102111
Gene: ENSMUSG00000027963
AA Change: A287T

DomainStartEndE-ValueType
low complexity region 19 41 N/A INTRINSIC
Pfam:Glyco_transf_64 67 321 1.4e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145945
Meta Mutation Damage Score 0.1008 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 96% (64/67)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik C G 2: 152,282,777 (GRCm39) P211A probably damaging Het
Ambra1 G A 2: 91,715,951 (GRCm39) V761M probably damaging Het
Amfr T A 8: 94,702,798 (GRCm39) probably null Het
Asphd1 C A 7: 126,545,287 (GRCm39) A357S probably benign Het
Brd3 C A 2: 27,353,931 (GRCm39) Q60H probably damaging Het
Cd96 T A 16: 45,890,016 (GRCm39) M336L probably benign Het
Cep152 T A 2: 125,406,125 (GRCm39) H1469L probably benign Het
Coro1a G T 7: 126,299,816 (GRCm39) probably null Het
D630045J12Rik A T 6: 38,171,555 (GRCm39) L871Q probably benign Het
Depdc5 C T 5: 33,095,635 (GRCm39) P824L probably damaging Het
Enpep T G 3: 129,099,075 (GRCm39) D467A probably damaging Het
Foxi3 T A 6: 70,937,500 (GRCm39) F218Y probably damaging Het
Golga2 A G 2: 32,194,166 (GRCm39) M521V probably benign Het
Gpr142 T A 11: 114,695,168 (GRCm39) N44K probably damaging Het
Gtf2ird2 A G 5: 134,245,061 (GRCm39) I440V probably benign Het
Gucy1b2 T A 14: 62,642,028 (GRCm39) K698I probably damaging Het
Hspa1b T C 17: 35,177,983 (GRCm39) M1V probably null Het
Ints9 T A 14: 65,245,521 (GRCm39) Y260N probably benign Het
Khdc3 T G 9: 73,010,768 (GRCm39) V182G possibly damaging Het
Ky A G 9: 102,414,798 (GRCm39) probably null Het
Map2k1 T A 9: 64,098,843 (GRCm39) I263F probably damaging Het
Or13a18 A C 7: 140,190,576 (GRCm39) I166L probably benign Het
Or2t47 T C 11: 58,442,877 (GRCm39) S63G probably benign Het
Or5ak25 A G 2: 85,269,241 (GRCm39) V87A probably benign Het
Otogl T A 10: 107,613,453 (GRCm39) H2004L probably benign Het
Palmd T C 3: 116,717,009 (GRCm39) H496R probably benign Het
Papolb C G 5: 142,515,409 (GRCm39) R78P possibly damaging Het
Pcdh10 G A 3: 45,336,247 (GRCm39) G854R probably damaging Het
Pdcd11 A G 19: 47,101,976 (GRCm39) I1054V probably benign Het
Pik3ap1 A T 19: 41,364,545 (GRCm39) L58Q probably damaging Het
Ppp2ca A G 11: 51,989,937 (GRCm39) K21R probably benign Het
Prmt5 A C 14: 54,745,373 (GRCm39) I598S probably damaging Het
Pycr1 T A 11: 120,532,050 (GRCm39) I239F probably damaging Het
R3hdm2 C T 10: 127,334,285 (GRCm39) R896C probably damaging Het
Rev3l C T 10: 39,722,725 (GRCm39) P699S probably damaging Het
Samd1 CGAGGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 8: 84,725,625 (GRCm39) probably benign Het
Sel1l A T 12: 91,791,658 (GRCm39) M351K possibly damaging Het
Sesn2 A G 4: 132,226,617 (GRCm39) L159P probably damaging Het
Slc35f4 T A 14: 49,540,946 (GRCm39) probably benign Het
Slc3a1 C A 17: 85,359,403 (GRCm39) N409K probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slco1c1 T C 6: 141,492,502 (GRCm39) F246S probably damaging Het
Socs2 T G 10: 95,228,681 (GRCm39) I190L unknown Het
Srsf1 T A 11: 87,938,684 (GRCm39) I7N possibly damaging Het
Stox1 T A 10: 62,503,620 (GRCm39) H145L probably damaging Het
Trap1 A T 16: 3,874,286 (GRCm39) I243N probably damaging Het
Trav7-3 T C 14: 53,681,207 (GRCm39) I83T probably benign Het
Trmt9b T C 8: 36,979,078 (GRCm39) I227T probably benign Het
Tuft1 A T 3: 94,546,712 (GRCm39) I42K possibly damaging Het
Umps A G 16: 33,787,344 (GRCm39) V3A probably benign Het
Vim A C 2: 13,579,643 (GRCm39) E134A probably null Het
Vmn1r28 C A 6: 58,242,524 (GRCm39) H122Q probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Vsig10l T A 7: 43,120,274 (GRCm39) V760D probably damaging Het
Xrn1 A G 9: 95,927,596 (GRCm39) D1460G probably benign Het
Zfp282 A G 6: 47,874,824 (GRCm39) D343G probably damaging Het
Zfp35 A G 18: 24,136,778 (GRCm39) H374R probably damaging 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
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'- TCCTTCTTCAACAGCAAATACCTG -3'
(R):5'- TGGAGAAGCCACTGAAAACC -3'

Sequencing Primer
(F):5'- TCTTCCAGAAGCAGCCTGC -3'
(R):5'- AAACCCAGCGCGGTGTTTTG -3'
Posted On 2016-07-06