Incidental Mutation 'R6376:Large2'
ID 533174
Institutional Source Beutler Lab
Gene Symbol Large2
Ensembl Gene ENSMUSG00000040434
Gene Name LARGE xylosyl- and glucuronyltransferase 2
Synonyms 5730485C17Rik, Gyltl1b
MMRRC Submission 044526-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6376 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 92195391-92201437 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 92200853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028650] [ENSMUST00000068586] [ENSMUST00000090582] [ENSMUST00000111284] [ENSMUST00000148352] [ENSMUST00000176289] [ENSMUST00000176774] [ENSMUST00000176810] [ENSMUST00000176339]
AlphaFold Q5XPT3
Predicted Effect probably benign
Transcript: ENSMUST00000028650
SMART Domains Protein: ENSMUSP00000028650
Gene: ENSMUSG00000027222

DomainStartEndE-ValueType
Pfam:Pex16 9 329 1.3e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000068586
SMART Domains Protein: ENSMUSP00000064128
Gene: ENSMUSG00000040434

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 52 63 N/A INTRINSIC
Pfam:Glyco_transf_8 70 316 4.6e-22 PFAM
low complexity region 392 401 N/A INTRINSIC
Pfam:Glyco_transf_49 402 469 2.2e-11 PFAM
Pfam:Glyco_transf_49 466 673 1e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090582
SMART Domains Protein: ENSMUSP00000088070
Gene: ENSMUSG00000040434

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 52 63 N/A INTRINSIC
Pfam:Glyco_transf_8 70 218 7.2e-9 PFAM
Pfam:Glyco_transf_8 188 281 2.3e-8 PFAM
low complexity region 357 366 N/A INTRINSIC
Pfam:Glyco_transf_49 367 434 2.1e-11 PFAM
Pfam:Glyco_transf_49 431 638 9.3e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111284
SMART Domains Protein: ENSMUSP00000106915
Gene: ENSMUSG00000040434

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 77 88 N/A INTRINSIC
Pfam:Glyco_transf_8 97 341 8.9e-22 PFAM
low complexity region 417 426 N/A INTRINSIC
Pfam:Glyco_transf_49 427 494 6.5e-11 PFAM
Pfam:Glyco_transf_49 491 698 3.1e-42 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000148352
AA Change: I86F
SMART Domains Protein: ENSMUSP00000135451
Gene: ENSMUSG00000040434
AA Change: I86F

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 52 63 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176289
SMART Domains Protein: ENSMUSP00000135118
Gene: ENSMUSG00000040434

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 52 63 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176774
SMART Domains Protein: ENSMUSP00000135400
Gene: ENSMUSG00000040434

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 52 63 N/A INTRINSIC
Pfam:Glyco_transf_8 71 317 3.9e-22 PFAM
low complexity region 393 402 N/A INTRINSIC
Pfam:Glyco_transf_49 403 470 1.6e-11 PFAM
Pfam:Glyco_transf_49 467 674 7.4e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176810
SMART Domains Protein: ENSMUSP00000135024
Gene: ENSMUSG00000040434

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 77 88 N/A INTRINSIC
Pfam:Glyco_transf_8 101 342 4.2e-20 PFAM
low complexity region 417 426 N/A INTRINSIC
Pfam:Glyco_transf_49 427 493 1.3e-13 PFAM
Pfam:Glyco_transf_49 489 698 2.8e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176339
SMART Domains Protein: ENSMUSP00000135619
Gene: ENSMUSG00000040434

DomainStartEndE-ValueType
transmembrane domain 31 50 N/A INTRINSIC
low complexity region 74 85 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
Validation Efficiency 100% (81/81)
MGI Phenotype PHENOTYPE: Null mutant mice are healthy and are indistinguishable from control littermates with respect to body weight and life span when aged up to one year. No increased spontaneous tumor load was observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A T 9: 53,339,456 (GRCm39) E106D probably damaging Het
A830018L16Rik A T 1: 11,868,718 (GRCm39) N333Y probably damaging Het
Abca4 T A 3: 121,917,309 (GRCm39) M1007K possibly damaging Het
Accsl T A 2: 93,687,343 (GRCm39) I495F probably damaging Het
Acsl3 T C 1: 78,674,182 (GRCm39) S373P possibly damaging Het
Adam7 A G 14: 68,742,546 (GRCm39) I689T possibly damaging Het
Akap11 G A 14: 78,752,336 (GRCm39) T179I probably damaging Het
Ankmy1 T C 1: 92,816,187 (GRCm39) K309R possibly damaging Het
Apaf1 A T 10: 90,859,673 (GRCm39) I824N probably damaging Het
Apc2 T A 10: 80,148,488 (GRCm39) C1152S probably damaging Het
Arhgap17 C A 7: 122,899,727 (GRCm39) W409L probably damaging Het
Arhgef15 T C 11: 68,845,796 (GRCm39) I19V unknown Het
Arnt C A 3: 95,397,936 (GRCm39) P573H probably damaging Het
Arvcf G A 16: 18,223,882 (GRCm39) G932R probably damaging Het
Atg4a-ps C T 3: 103,553,044 (GRCm39) W99* probably null Het
Atp13a5 T A 16: 29,056,004 (GRCm39) D1052V probably benign Het
Atp2b4 T C 1: 133,642,797 (GRCm39) T1103A probably damaging Het
B4galnt4 C A 7: 140,647,335 (GRCm39) Q362K possibly damaging Het
Cd320 T A 17: 34,066,491 (GRCm39) N90K probably benign Het
Cep170b A T 12: 112,698,502 (GRCm39) I87F probably damaging Het
Coq3 T G 4: 21,900,486 (GRCm39) C238G probably benign Het
Cpa5 A T 6: 30,614,044 (GRCm39) Q62L probably benign Het
Ctsg A T 14: 56,339,110 (GRCm39) C49* probably null Het
Cul9 T C 17: 46,819,489 (GRCm39) T2000A probably damaging Het
Dedd C T 1: 171,167,790 (GRCm39) P155S probably benign Het
Dnah1 A G 14: 30,997,565 (GRCm39) S2598P probably damaging Het
Dnah14 C T 1: 181,433,459 (GRCm39) P379S possibly damaging Het
Dync2h1 A T 9: 7,165,703 (GRCm39) S519R probably benign Het
Eea1 A G 10: 95,874,660 (GRCm39) S1192G probably benign Het
Eif5b T C 1: 38,084,760 (GRCm39) I869T probably damaging Het
Elavl4 C A 4: 110,112,651 (GRCm39) probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ets2 G A 16: 95,520,037 (GRCm39) R421H probably damaging Het
Exoc3l2 G A 7: 19,203,635 (GRCm39) A76T possibly damaging Het
Fam89b T C 19: 5,778,757 (GRCm39) Y144C probably damaging Het
Greb1 T C 12: 16,749,580 (GRCm39) E1082G probably damaging Het
Gtf3a A T 5: 146,890,798 (GRCm39) probably null Het
Hoxc12 C A 15: 102,845,524 (GRCm39) F79L possibly damaging Het
Hspb8 G T 5: 116,547,491 (GRCm39) L164I probably damaging Het
Ina C T 19: 47,003,564 (GRCm39) A124V probably benign Het
Inhbb T A 1: 119,345,411 (GRCm39) I293F probably damaging Het
Itpr3 A G 17: 27,314,449 (GRCm39) Y633C possibly damaging Het
Jag2 C T 12: 112,872,949 (GRCm39) V1102I probably benign Het
Kalrn A T 16: 33,796,361 (GRCm39) F1138Y probably benign Het
Lats2 A G 14: 57,959,966 (GRCm39) S177P probably benign Het
Lims2 G A 18: 32,087,515 (GRCm39) R124H possibly damaging Het
Lrp2 T A 2: 69,313,787 (GRCm39) T2315S probably benign Het
Lrrc4c A C 2: 97,459,391 (GRCm39) T6P probably benign Het
Lrrk2 T C 15: 91,626,469 (GRCm39) L1171S possibly damaging Het
Man2b2 A T 5: 36,978,378 (GRCm39) M302K probably damaging Het
Mocos G A 18: 24,834,542 (GRCm39) G860R possibly damaging Het
Mylk3 T A 8: 86,085,571 (GRCm39) D258V possibly damaging Het
Nkx1-2 C T 7: 132,201,240 (GRCm39) D6N probably damaging Het
Nrp2 A G 1: 62,758,176 (GRCm39) N54S possibly damaging Het
Nt5el T C 13: 105,256,473 (GRCm39) I514T possibly damaging Het
Or2d2 A G 7: 106,727,848 (GRCm39) F251L probably benign Het
Pacsin1 A T 17: 27,926,879 (GRCm39) T195S probably benign Het
Pank4 T C 4: 155,056,693 (GRCm39) probably null Het
Pdgfra A T 5: 75,327,180 (GRCm39) M126L probably benign Het
Podxl T A 6: 31,505,432 (GRCm39) T204S probably benign Het
Pole G A 5: 110,484,240 (GRCm39) D2175N probably damaging Het
Pramel16 C T 4: 143,677,267 (GRCm39) G104E probably benign Het
Prkdc A G 16: 15,587,749 (GRCm39) K2545E probably benign Het
Prodh T C 16: 17,897,849 (GRCm39) I183V probably benign Het
Ptch1 T C 13: 63,691,422 (GRCm39) D277G possibly damaging Het
Rapgef5 G A 12: 117,684,988 (GRCm39) V246M probably damaging Het
Rubcnl A G 14: 75,269,834 (GRCm39) N164S probably benign Het
Samd4 A T 14: 47,290,419 (GRCm39) L175F probably damaging Het
Scart1 G A 7: 139,808,642 (GRCm39) G851D probably damaging Het
Scimp C A 11: 70,688,893 (GRCm39) W41L possibly damaging Het
Scn3a T A 2: 65,291,843 (GRCm39) K1634N possibly damaging Het
Spta1 A G 1: 174,030,888 (GRCm39) R957G probably benign Het
Sptlc3 T A 2: 139,478,692 (GRCm39) N550K probably benign Het
Srebf1 T C 11: 60,094,361 (GRCm39) N609D probably null Het
Styxl1 A T 5: 135,776,664 (GRCm39) L164H probably benign Het
Synpo2l A T 14: 20,710,702 (GRCm39) D865E probably damaging Het
Tnfsf15 T C 4: 63,663,267 (GRCm39) M19V probably damaging Het
Trappc8 G C 18: 20,970,132 (GRCm39) R953G probably benign Het
Trav13-1 A G 14: 53,782,800 (GRCm39) N50S probably benign Het
Trim12a T C 7: 103,955,241 (GRCm39) K161E probably benign Het
Vipr1 C A 9: 121,493,640 (GRCm39) N230K probably damaging Het
Xirp1 A T 9: 119,847,557 (GRCm39) V3E probably damaging Het
Zfp768 A G 7: 126,943,892 (GRCm39) F82L probably benign Het
Other mutations in Large2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Large2 APN 2 92,196,684 (GRCm39) missense probably damaging 1.00
IGL01152:Large2 APN 2 92,200,984 (GRCm39) missense probably damaging 1.00
IGL01377:Large2 APN 2 92,199,676 (GRCm39) missense probably damaging 1.00
IGL01764:Large2 APN 2 92,197,531 (GRCm39) splice site probably benign
IGL02016:Large2 APN 2 92,199,888 (GRCm39) missense possibly damaging 0.82
IGL02396:Large2 APN 2 92,196,668 (GRCm39) nonsense probably null
IGL02996:Large2 APN 2 92,196,273 (GRCm39) missense possibly damaging 0.88
IGL03011:Large2 APN 2 92,197,927 (GRCm39) missense probably damaging 1.00
egged UTSW 2 92,200,853 (GRCm39) intron probably benign
P0041:Large2 UTSW 2 92,197,599 (GRCm39) splice site probably benign
R1915:Large2 UTSW 2 92,196,170 (GRCm39) splice site probably benign
R4193:Large2 UTSW 2 92,195,704 (GRCm39) missense probably damaging 1.00
R4239:Large2 UTSW 2 92,196,950 (GRCm39) splice site probably benign
R4580:Large2 UTSW 2 92,200,957 (GRCm39) missense possibly damaging 0.66
R4679:Large2 UTSW 2 92,197,903 (GRCm39) missense probably benign 0.31
R4857:Large2 UTSW 2 92,196,979 (GRCm39) intron probably benign
R4918:Large2 UTSW 2 92,196,452 (GRCm39) intron probably benign
R5050:Large2 UTSW 2 92,198,124 (GRCm39) missense probably benign 0.05
R5237:Large2 UTSW 2 92,197,487 (GRCm39) missense probably benign 0.16
R5264:Large2 UTSW 2 92,205,088 (GRCm39) unclassified probably benign
R5508:Large2 UTSW 2 92,200,248 (GRCm39) missense possibly damaging 0.80
R5999:Large2 UTSW 2 92,196,403 (GRCm39) missense probably benign 0.01
R6077:Large2 UTSW 2 92,196,915 (GRCm39) missense probably benign 0.00
R6167:Large2 UTSW 2 92,197,433 (GRCm39) missense probably benign 0.44
R6218:Large2 UTSW 2 92,200,981 (GRCm39) missense probably damaging 0.99
R6225:Large2 UTSW 2 92,196,825 (GRCm39) missense probably damaging 1.00
R6301:Large2 UTSW 2 92,199,861 (GRCm39) missense probably damaging 1.00
R6485:Large2 UTSW 2 92,196,373 (GRCm39) missense probably benign
R6727:Large2 UTSW 2 92,201,215 (GRCm39) utr 5 prime probably benign
R6942:Large2 UTSW 2 92,201,167 (GRCm39) missense probably damaging 0.99
R7051:Large2 UTSW 2 92,197,367 (GRCm39) missense probably damaging 0.97
R7318:Large2 UTSW 2 92,196,373 (GRCm39) missense probably benign
R7581:Large2 UTSW 2 92,200,538 (GRCm39) missense probably damaging 1.00
R7640:Large2 UTSW 2 92,205,050 (GRCm39) start codon destroyed probably null
R9522:Large2 UTSW 2 92,200,266 (GRCm39) missense probably damaging 1.00
Z1176:Large2 UTSW 2 92,200,543 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTAGCCATCCTGGTCTAGAACAG -3'
(R):5'- AAGAAGGGACCCTGTGTGAC -3'

Sequencing Primer
(F):5'- CCATCCTGGTCTAGAACAGTGTAG -3'
(R):5'- TGTGTGACCGCTGCCTG -3'
Posted On 2018-09-12