Incidental Mutation 'R2888:Extl2'
ID 259985
Institutional Source Beutler Lab
Gene Symbol Extl2
Ensembl Gene ENSMUSG00000027963
Gene Name exostosin-like glycosyltransferase 2
Synonyms 3000001D04Rik
MMRRC Submission 040476-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.306) question?
Stock # R2888 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 115801111-115822666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115820906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 251 (F251S)
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: F251S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029575
Gene: ENSMUSG00000027963
AA Change: F251S

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: F237S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102110
Gene: ENSMUSG00000027963
AA Change: F237S

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: F251S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102111
Gene: ENSMUSG00000027963
AA Change: F251S

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 0.9721 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (39/39)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik A T X: 77,414,288 (GRCm39) I338F probably damaging Het
Acd A G 8: 106,425,470 (GRCm39) S288P probably benign Het
Aimp2 T C 5: 143,846,553 (GRCm39) probably benign Het
Atp8b2 T C 3: 89,865,600 (GRCm39) D100G probably damaging Het
Cacna1i A T 15: 80,258,968 (GRCm39) I1226F probably damaging Het
Dsp C A 13: 38,376,224 (GRCm39) N1336K possibly damaging Het
Gusb T C 5: 130,029,343 (GRCm39) H146R probably damaging Het
Itpr2 C T 6: 146,072,791 (GRCm39) G2380S probably damaging Het
Kansl1l T C 1: 66,763,764 (GRCm39) K762E probably benign Het
Krtap4-9 C A 11: 99,676,245 (GRCm39) C55* probably null Het
Lamp1 T A 8: 13,223,891 (GRCm39) L341H probably damaging Het
Llcfc1 A T 6: 41,661,537 (GRCm39) K29M probably damaging Het
Malrd1 A T 2: 16,079,568 (GRCm39) I1762F unknown Het
Muc5b G A 7: 141,415,291 (GRCm39) V2746M probably damaging Het
Mug1 T A 6: 121,858,802 (GRCm39) D1173E probably benign Het
Myo5b G C 18: 74,895,689 (GRCm39) E1782Q probably damaging Het
Or2t46 T C 11: 58,471,988 (GRCm39) F106S possibly damaging Het
Pcdha5 A G 18: 37,094,940 (GRCm39) D483G probably damaging Het
Phex T C X: 156,093,954 (GRCm39) I439V probably benign Het
Pkd1l1 T A 11: 8,897,251 (GRCm39) S103C probably damaging Het
Plekha4 C T 7: 45,187,668 (GRCm39) R176C probably damaging Het
Ppp1r3a T G 6: 14,718,248 (GRCm39) S889R possibly damaging Het
Pramel23 G T 4: 143,423,460 (GRCm39) T443K probably benign Het
Prol1 C A 5: 88,476,168 (GRCm39) A186E unknown Het
Rbm39 C T 2: 156,009,503 (GRCm39) R123H probably benign Het
Rtn4 T C 11: 29,643,687 (GRCm39) S167P probably damaging Het
Slc35a5 A G 16: 44,971,923 (GRCm39) C114R probably damaging Het
Smoc2 T C 17: 14,617,887 (GRCm39) probably null Het
Sptbn2 A G 19: 4,798,664 (GRCm39) T1998A possibly damaging Het
Tbc1d5 T A 17: 51,242,577 (GRCm39) E173D probably damaging Het
Tsc2 A G 17: 24,850,969 (GRCm39) probably null Het
Umps A T 16: 33,784,240 (GRCm39) V71E probably damaging Het
Vmn2r13 T C 5: 109,339,840 (GRCm39) D45G possibly damaging Het
Wdfy4 C A 14: 32,831,476 (GRCm39) E917* probably null Het
Zfhx2 T C 14: 55,302,260 (GRCm39) K1908R possibly damaging Het
Zfp511 A C 7: 139,619,295 (GRCm39) D204A 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
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'- AGTTACGGAGGCTTTGAGC -3'
(R):5'- TGGCATACGGAAAACCAAACTG -3'

Sequencing Primer
(F):5'- AGGCTTTGAGCTGCAGACAC -3'
(R):5'- AGTACTTTAAGGGCATGCCGTC -3'
Posted On 2015-01-23