Incidental Mutation 'R2888:Extl2'
ID259985
Institutional Source Beutler Lab
Gene Symbol Extl2
Ensembl Gene ENSMUSG00000027963
Gene Nameexostoses (multiple)-like 2
Synonyms
MMRRC Submission 040476-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.389) question?
Stock #R2888 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location116007462-116029017 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 116027257 bp
ZygosityHeterozygous
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]
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: 78,370,682 I338F probably damaging Het
Acd A G 8: 105,698,838 S288P probably benign Het
Aimp2 T C 5: 143,909,735 probably benign Het
Atp8b2 T C 3: 89,958,293 D100G probably damaging Het
Cacna1i A T 15: 80,374,767 I1226F probably damaging Het
Dsp C A 13: 38,192,248 N1336K possibly damaging Het
Gm13089 G T 4: 143,696,890 T443K probably benign Het
Gusb T C 5: 130,000,502 H146R probably damaging Het
Itpr2 C T 6: 146,171,293 G2380S probably damaging Het
Kansl1l T C 1: 66,724,605 K762E probably benign Het
Krtap4-9 C A 11: 99,785,419 C55* probably null Het
Lamp1 T A 8: 13,173,891 L341H probably damaging Het
Llcfc1 A T 6: 41,684,603 K29M probably damaging Het
Malrd1 A T 2: 16,074,757 I1762F unknown Het
Muc5b G A 7: 141,861,554 V2746M probably damaging Het
Mug1 T A 6: 121,881,843 D1173E probably benign Het
Myo5b G C 18: 74,762,618 E1782Q probably damaging Het
Olfr325 T C 11: 58,581,162 F106S possibly damaging Het
Pcdha5 A G 18: 36,961,887 D483G probably damaging Het
Phex T C X: 157,310,958 I439V probably benign Het
Pkd1l1 T A 11: 8,947,251 S103C probably damaging Het
Plekha4 C T 7: 45,538,244 R176C probably damaging Het
Ppp1r3a T G 6: 14,718,249 S889R possibly damaging Het
Prol1 C A 5: 88,328,309 A186E unknown Het
Rbm39 C T 2: 156,167,583 R123H probably benign Het
Rtn4 T C 11: 29,693,687 S167P probably damaging Het
Slc35a5 A G 16: 45,151,560 C114R probably damaging Het
Smoc2 T C 17: 14,397,625 probably null Het
Sptbn2 A G 19: 4,748,636 T1998A possibly damaging Het
Tbc1d5 T A 17: 50,935,549 E173D probably damaging Het
Tsc2 A G 17: 24,631,995 probably null Het
Umps A T 16: 33,963,870 V71E probably damaging Het
Vmn2r13 T C 5: 109,191,974 D45G possibly damaging Het
Wdfy4 C A 14: 33,109,519 E917* probably null Het
Zfhx2 T C 14: 55,064,803 K1908R possibly damaging Het
Zfp511 A C 7: 140,039,382 D204A probably benign Het
Other mutations in Extl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Extl2 APN 3 116027482 missense possibly damaging 0.54
PIT4378001:Extl2 UTSW 3 116010690 start codon destroyed probably null 0.02
R0417:Extl2 UTSW 3 116024357 missense probably benign 0.29
R1500:Extl2 UTSW 3 116027140 missense probably benign 0.33
R3836:Extl2 UTSW 3 116024357 missense probably benign 0.29
R4666:Extl2 UTSW 3 116024207 missense probably damaging 1.00
R4940:Extl2 UTSW 3 116027192 missense probably benign 0.05
R5261:Extl2 UTSW 3 116027364 missense probably benign 0.19
R6866:Extl2 UTSW 3 116027352 missense probably damaging 0.97
R6866:Extl2 UTSW 3 116027353 missense probably damaging 0.99
R7117:Extl2 UTSW 3 116027439 missense probably damaging 1.00
R7529:Extl2 UTSW 3 116027406 missense possibly damaging 0.86
R8409:Extl2 UTSW 3 116027262 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AGTTACGGAGGCTTTGAGC -3'
(R):5'- TGGCATACGGAAAACCAAACTG -3'

Sequencing Primer
(F):5'- AGGCTTTGAGCTGCAGACAC -3'
(R):5'- AGTACTTTAAGGGCATGCCGTC -3'
Posted On2015-01-23