Incidental Mutation 'R5050:Large2'
ID 394578
Institutional Source Beutler Lab
Gene Symbol Large2
Ensembl Gene ENSMUSG00000040434
Gene Name LARGE xylosyl- and glucuronyltransferase 2
Synonyms 5730485C17Rik, Gyltl1b
MMRRC Submission 042640-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5050 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 92195391-92201437 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92198124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 282 (L282Q)
Ref Sequence ENSEMBL: ENSMUSP00000135024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044036] [ENSMUST00000068586] [ENSMUST00000068702] [ENSMUST00000090582] [ENSMUST00000090586] [ENSMUST00000111284] [ENSMUST00000111290] [ENSMUST00000176774] [ENSMUST00000176810] [ENSMUST00000111297] [ENSMUST00000176289] [ENSMUST00000148352] [ENSMUST00000176339]
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
AA Change: L257Q

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000064128
Gene: ENSMUSG00000040434
AA Change: L257Q

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
AA Change: L222Q

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000088070
Gene: ENSMUSG00000040434
AA Change: L222Q

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
AA Change: L282Q

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000106915
Gene: ENSMUSG00000040434
AA Change: L282Q

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 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 noncoding transcript
Transcript: ENSMUST00000176646
Predicted Effect probably benign
Transcript: ENSMUST00000176774
AA Change: L258Q

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000135400
Gene: ENSMUSG00000040434
AA Change: L258Q

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
AA Change: L282Q

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000135024
Gene: ENSMUSG00000040434
AA Change: L282Q

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 noncoding transcript
Transcript: ENSMUST00000175740
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130283
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124428
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175851
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176820
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176402
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: 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: 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: 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 noncoding transcript
Transcript: ENSMUST00000177273
Meta Mutation Damage Score 0.1320 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 100% (69/69)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,989,822 (GRCm39) probably benign Het
Ap3m1 A G 14: 21,094,843 (GRCm39) I108T probably benign Het
Apobec1 T C 6: 122,568,061 (GRCm39) M1V probably null Het
Aqr A T 2: 113,943,090 (GRCm39) L1161* probably null Het
Aqr A T 2: 114,000,506 (GRCm39) probably null Het
Arhgef37 A G 18: 61,637,402 (GRCm39) I420T probably benign Het
Cacna1g C T 11: 94,350,541 (GRCm39) E435K probably damaging Het
Card6 G T 15: 5,129,858 (GRCm39) H513N probably benign Het
Ccdc158 A C 5: 92,814,738 (GRCm39) F29L probably benign Het
Ccr6 T C 17: 8,474,936 (GRCm39) L47S probably damaging Het
Cdc42bpa T A 1: 179,900,018 (GRCm39) Y444* probably null Het
Cdh17 A G 4: 11,784,654 (GRCm39) Y270C probably damaging Het
Cdh9 T C 15: 16,778,233 (GRCm39) F16S probably benign Het
Cdkl1 T C 12: 69,804,014 (GRCm39) K141R probably damaging Het
Cfhr4 T A 1: 139,664,578 (GRCm39) I494F probably damaging Het
Chd4 T C 6: 125,084,443 (GRCm39) Y692H probably damaging Het
Dhrs7 T A 12: 72,704,184 (GRCm39) D104V probably damaging Het
Dhtkd1 A T 2: 5,922,500 (GRCm39) L553Q probably benign Het
Dnah7a T G 1: 53,536,255 (GRCm39) D2596A probably benign Het
Dync1li2 T C 8: 105,164,073 (GRCm39) K151E probably damaging Het
Eno4 C T 19: 58,943,928 (GRCm39) H297Y probably benign Het
Epg5 T A 18: 78,019,156 (GRCm39) D976E possibly damaging Het
Fhip2a T A 19: 57,371,602 (GRCm39) F571L probably damaging Het
Gm4553 C A 7: 141,718,773 (GRCm39) K218N unknown Het
Gpld1 A T 13: 25,146,739 (GRCm39) T234S probably benign Het
Gtpbp6 A T 5: 110,252,567 (GRCm39) probably benign Het
Gucy2g T C 19: 55,229,367 (GRCm39) E101G probably benign Het
Gvin3 T C 7: 106,196,179 (GRCm39) noncoding transcript Het
Hira G A 16: 18,744,609 (GRCm39) R442K possibly damaging Het
Hrh3 A G 2: 179,742,350 (GRCm39) L394P probably damaging Het
Igkv1-110 T A 6: 68,248,176 (GRCm39) F95Y probably damaging Het
Iqgap3 T G 3: 87,997,493 (GRCm39) V223G probably damaging Het
Itpk1 T C 12: 102,671,069 (GRCm39) T3A probably damaging Het
Jag1 A G 2: 136,927,074 (GRCm39) V895A possibly damaging Het
Kazn G A 4: 141,845,514 (GRCm39) probably benign Het
Lgmn A G 12: 102,369,680 (GRCm39) probably null Het
Lrp4 A T 2: 91,322,767 (GRCm39) I1119F probably benign Het
Map3k19 T C 1: 127,751,299 (GRCm39) H684R probably benign Het
Mier3 C T 13: 111,851,107 (GRCm39) A367V possibly damaging Het
Mpdz A G 4: 81,213,685 (GRCm39) V1579A probably benign Het
Mroh2b A T 15: 4,929,932 (GRCm39) D6V possibly damaging Het
Myh7b A G 2: 155,473,670 (GRCm39) I1568V probably benign Het
Or52e8b T A 7: 104,673,594 (GRCm39) I198F probably damaging Het
Plch2 C T 4: 155,127,766 (GRCm39) probably benign Het
Plek T C 11: 16,945,216 (GRCm39) D38G probably damaging Het
Polr2f A G 15: 79,028,862 (GRCm39) probably benign Het
Samsn1 A G 16: 75,685,645 (GRCm39) S38P probably benign Het
Sf1 C T 19: 6,422,589 (GRCm39) T248I probably damaging Het
Sgms2 C T 3: 131,124,005 (GRCm39) V232M probably benign Het
Sharpin A T 15: 76,232,530 (GRCm39) L160H probably damaging Het
Sympk C T 7: 18,769,967 (GRCm39) R215C probably benign Het
Syn3 T C 10: 86,243,532 (GRCm39) T136A probably benign Het
Tcam1 G A 11: 106,176,278 (GRCm39) V335M possibly damaging Het
Tedc1 G T 12: 113,120,325 (GRCm39) V56L possibly damaging Het
Tenm4 T C 7: 96,544,995 (GRCm39) L2337P probably damaging Het
Ttn G A 2: 76,715,155 (GRCm39) probably benign Het
Tysnd1 T A 10: 61,532,050 (GRCm39) I234N probably damaging Het
Vmn2r51 T C 7: 9,834,349 (GRCm39) K230E 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
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
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'- TTGAGGTCAGCTGCTTCCAG -3'
(R):5'- ATCTTGAATGTAAGAGGGTCCGGG -3'

Sequencing Primer
(F):5'- AGTGTGGTCTGACAGCTGCAC -3'
(R):5'- TAAGAGGGTCCGGGCTCTC -3'
Posted On 2016-06-15