Incidental Mutation 'R4239:Large2'
ID 321241
Institutional Source Beutler Lab
Gene Symbol Large2
Ensembl Gene ENSMUSG00000040434
Gene Name LARGE xylosyl- and glucuronyltransferase 2
Synonyms 5730485C17Rik, Gyltl1b
MMRRC Submission 041056-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4239 (G1)
Quality Score 200
Status Validated
Chromosome 2
Chromosomal Location 92195391-92201437 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 92196950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044036] [ENSMUST00000068586] [ENSMUST00000068702] [ENSMUST00000090582] [ENSMUST00000090586] [ENSMUST00000111284] [ENSMUST00000148352] [ENSMUST00000176289] [ENSMUST00000176339] [ENSMUST00000111290] [ENSMUST00000111293] [ENSMUST00000111294] [ENSMUST00000111297] [ENSMUST00000176810] [ENSMUST00000176774]
AlphaFold Q5XPT3
Predicted Effect probably benign
Transcript: ENSMUST00000044036
SMART Domains Protein: ENSMUSP00000038497
Gene: ENSMUSG00000058318

DomainStartEndE-ValueType
coiled coil region 29 62 N/A INTRINSIC
low complexity region 85 129 N/A INTRINSIC
low complexity region 165 186 N/A INTRINSIC
AT_hook 350 362 4.28e-1 SMART
low complexity region 369 381 N/A INTRINSIC
PHD 415 458 3.12e-15 SMART
RING 416 457 1.85e-1 SMART
coiled coil region 482 527 N/A INTRINSIC
low complexity region 575 595 N/A INTRINSIC
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: ENSMUST00000068702
SMART Domains Protein: ENSMUSP00000070649
Gene: ENSMUSG00000058318

DomainStartEndE-ValueType
coiled coil region 29 62 N/A INTRINSIC
low complexity region 85 128 N/A INTRINSIC
low complexity region 164 185 N/A INTRINSIC
PHD 367 410 3.12e-15 SMART
RING 368 409 1.85e-1 SMART
coiled coil region 434 479 N/A INTRINSIC
low complexity region 527 547 N/A INTRINSIC
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: ENSMUST00000090586
SMART Domains Protein: ENSMUSP00000088074
Gene: ENSMUSG00000058318

DomainStartEndE-ValueType
coiled coil region 29 62 N/A INTRINSIC
low complexity region 85 128 N/A INTRINSIC
low complexity region 249 270 N/A INTRINSIC
AT_hook 434 446 4.28e-1 SMART
low complexity region 453 465 N/A INTRINSIC
PHD 499 542 3.12e-15 SMART
RING 500 541 1.85e-1 SMART
coiled coil region 566 611 N/A INTRINSIC
low complexity region 659 679 N/A INTRINSIC
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 noncoding transcript
Transcript: ENSMUST00000175851
Predicted Effect probably benign
Transcript: ENSMUST00000148352
SMART Domains Protein: ENSMUSP00000135451
Gene: ENSMUSG00000040434

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 noncoding transcript
Transcript: ENSMUST00000130283
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175740
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124428
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146311
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
Predicted Effect probably benign
Transcript: ENSMUST00000111290
SMART Domains Protein: ENSMUSP00000106921
Gene: ENSMUSG00000058318

DomainStartEndE-ValueType
coiled coil region 29 62 N/A INTRINSIC
low complexity region 85 128 N/A INTRINSIC
low complexity region 249 270 N/A INTRINSIC
AT_hook 405 417 4.28e-1 SMART
low complexity region 424 436 N/A INTRINSIC
PHD 470 513 3.12e-15 SMART
RING 471 512 1.85e-1 SMART
coiled coil region 537 582 N/A INTRINSIC
low complexity region 630 650 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111293
SMART Domains Protein: ENSMUSP00000106924
Gene: ENSMUSG00000058318

DomainStartEndE-ValueType
coiled coil region 29 62 N/A INTRINSIC
low complexity region 85 128 N/A INTRINSIC
low complexity region 249 270 N/A INTRINSIC
AT_hook 434 446 4.28e-1 SMART
low complexity region 453 465 N/A INTRINSIC
PHD 499 542 3.12e-15 SMART
RING 500 541 1.85e-1 SMART
coiled coil region 566 611 N/A INTRINSIC
low complexity region 659 679 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111294
SMART Domains Protein: ENSMUSP00000106925
Gene: ENSMUSG00000058318

DomainStartEndE-ValueType
coiled coil region 29 62 N/A INTRINSIC
low complexity region 85 128 N/A INTRINSIC
low complexity region 249 270 N/A INTRINSIC
PHD 452 495 3.12e-15 SMART
RING 453 494 1.85e-1 SMART
coiled coil region 519 564 N/A INTRINSIC
low complexity region 612 632 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111297
SMART Domains Protein: ENSMUSP00000106928
Gene: ENSMUSG00000058318

DomainStartEndE-ValueType
coiled coil region 29 62 N/A INTRINSIC
low complexity region 85 129 N/A INTRINSIC
low complexity region 248 269 N/A INTRINSIC
PHD 422 465 3.12e-15 SMART
RING 423 464 1.85e-1 SMART
coiled coil region 489 534 N/A INTRINSIC
low complexity region 582 602 N/A INTRINSIC
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: 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 noncoding transcript
Transcript: ENSMUST00000176646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176820
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 95% (55/58)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,888,126 (GRCm39) D397G probably benign Het
Alpk2 T A 18: 65,433,212 (GRCm39) I1765F probably damaging Het
Ano5 T A 7: 51,237,414 (GRCm39) I696N probably damaging Het
Areg A T 5: 91,291,375 (GRCm39) N106I probably damaging Het
Atad2b A G 12: 5,035,710 (GRCm39) N759D probably benign Het
B4galnt4 T C 7: 140,641,239 (GRCm39) L18P probably damaging Het
Boc T C 16: 44,312,247 (GRCm39) D605G probably damaging Het
Cfap46 G T 7: 139,246,203 (GRCm39) Q387K possibly damaging Het
Cfap74 C A 4: 155,547,529 (GRCm39) H1238Q probably benign Het
Clip2 A G 5: 134,564,051 (GRCm39) probably benign Het
Cog4 T C 8: 111,585,244 (GRCm39) I303T probably damaging Het
Col18a1 C T 10: 76,932,001 (GRCm39) V363I unknown Het
Crip3 A T 17: 46,742,156 (GRCm39) K184* probably null Het
Ddi1 A G 9: 6,265,799 (GRCm39) M190T probably benign Het
Dnah3 G A 7: 119,628,248 (GRCm39) Q1459* probably null Het
Dpp8 A G 9: 64,962,205 (GRCm39) D415G probably benign Het
Ehhadh T G 16: 21,581,438 (GRCm39) D518A probably damaging Het
Erbb2 A G 11: 98,318,869 (GRCm39) K549R probably benign Het
Fbxl3 G A 14: 103,326,854 (GRCm39) S176L probably damaging Het
Gm1979 T C 5: 26,206,119 (GRCm39) T154A probably benign Het
Gm6871 G T 7: 41,195,204 (GRCm39) T511K probably damaging Het
Gtf2h1 C T 7: 46,454,489 (GRCm39) A157V probably benign Het
Hexb T C 13: 97,313,259 (GRCm39) probably benign Het
Ifi214 A T 1: 173,352,509 (GRCm39) S307T possibly damaging Het
Ighv3-4 A T 12: 114,217,533 (GRCm39) D19E probably benign Het
Klk6 A G 7: 43,478,597 (GRCm39) H168R probably benign Het
Myo5c T C 9: 75,191,224 (GRCm39) I1086T probably benign Het
Nes C A 3: 87,886,666 (GRCm39) P1598T probably damaging Het
Or13a25 A G 7: 140,247,496 (GRCm39) N99D probably benign Het
Or51f1d T C 7: 102,701,003 (GRCm39) V166A probably benign Het
Or5g25 T A 2: 85,478,647 (GRCm39) Q6L probably damaging Het
Otud7a A G 7: 63,300,702 (GRCm39) D47G probably damaging Het
Phactr1 T A 13: 43,248,363 (GRCm39) N437K possibly damaging Het
Plcb1 A T 2: 135,186,078 (GRCm39) I682F probably damaging Het
Plcz1 T A 6: 139,986,344 (GRCm39) probably null Het
Prl7a1 T A 13: 27,821,549 (GRCm39) Q129L possibly damaging Het
Prrt4 T C 6: 29,170,163 (GRCm39) Y763C probably damaging Het
Psma7 T C 2: 179,681,304 (GRCm39) probably benign Het
Serpinb6b G C 13: 33,156,246 (GRCm39) C112S probably damaging Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Slc35f5 G A 1: 125,500,211 (GRCm39) A242T possibly damaging Het
Speer4b T C 5: 27,706,311 (GRCm39) R19G probably benign Het
Trank1 A G 9: 111,196,103 (GRCm39) I1376V probably benign Het
Trbv12-2 A G 6: 41,095,831 (GRCm39) N12D probably benign Het
Uba7 T C 9: 107,854,001 (GRCm39) probably null Het
Upf3a A G 8: 13,846,591 (GRCm39) R324G probably benign Het
Usp46 T G 5: 74,192,928 (GRCm39) probably benign Het
Vmn2r14 T G 5: 109,364,277 (GRCm39) probably null Het
Wbp2 G A 11: 115,971,373 (GRCm39) probably benign Het
Wdpcp T A 11: 21,645,269 (GRCm39) N232K probably damaging Het
Wdpcp T A 11: 21,645,271 (GRCm39) M233K probably benign Het
Zfp157 A G 5: 138,445,803 (GRCm39) I53V probably damaging 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
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
R6376:Large2 UTSW 2 92,200,853 (GRCm39) intron probably benign
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'- GTCCCGGTACACTACATGGTAG -3'
(R):5'- TGCATAGGCTGAGACTGAGG -3'

Sequencing Primer
(F):5'- GTAGGCCACATCCTTCCTCATAGAG -3'
(R):5'- CGGTTGTCAAATGTAGATGCACCC -3'
Posted On 2015-06-12