Incidental Mutation 'R4492:Lum'
ID 330791
Institutional Source Beutler Lab
Gene Symbol Lum
Ensembl Gene ENSMUSG00000036446
Gene Name lumican
Synonyms Ldc, SLRR2D
MMRRC Submission 041581-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.281) question?
Stock # R4492 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 97401363-97408565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 97404300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 65 (P65H)
Ref Sequence ENSEMBL: ENSMUSP00000040877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038160]
AlphaFold P51885
Predicted Effect probably damaging
Transcript: ENSMUST00000038160
AA Change: P65H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040877
Gene: ENSMUSG00000036446
AA Change: P65H

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
LRRNT 36 70 1.02e-10 SMART
LRR 66 88 2.14e1 SMART
LRR 89 114 1.92e2 SMART
LRR 135 157 1.67e2 SMART
LRR 158 181 7.8e1 SMART
LRR_TYP 183 206 2.36e-2 SMART
LRR 207 227 6.41e1 SMART
LRR 228 253 6.59e1 SMART
LRR 254 275 4.45e1 SMART
LRR 303 328 3.18e2 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth, corneal transparency, and epithelial cell migration and tissue repair. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted disruptions of this gene have abnormally large and aberrantly contoured collagen fibrils forming a disorganized matrix in the tendon, skin, cornea and sclera, with consequent reductions in skin tensile strength and corneal clarity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 T G 10: 89,561,676 (GRCm39) I157L probably benign Het
Amph T C 13: 19,333,928 (GRCm39) V663A possibly damaging Het
Anapc16 A G 10: 59,826,724 (GRCm39) S50P possibly damaging Het
Ank3 T A 10: 69,644,755 (GRCm39) V60D probably damaging Het
Btbd9 A G 17: 30,746,545 (GRCm39) Y94H probably damaging Het
Chil3 A G 3: 106,063,017 (GRCm39) I191T probably damaging Het
Clpb T C 7: 101,436,929 (GRCm39) L668P probably damaging Het
Cyp2d22 G A 15: 82,258,571 (GRCm39) H97Y probably benign Het
Dhrs7 A T 12: 72,699,899 (GRCm39) N244K probably damaging Het
Dusp4 C T 8: 35,274,890 (GRCm39) T3M possibly damaging Het
Edc4 GGATTTTAGCCA G 8: 106,611,700 (GRCm39) probably null Het
Etl4 G A 2: 20,811,676 (GRCm39) S1621N possibly damaging Het
Fam174a T C 1: 95,241,701 (GRCm39) S54P probably benign Het
Fdxacb1 T C 9: 50,681,547 (GRCm39) F7S probably damaging Het
Focad G A 4: 88,278,142 (GRCm39) probably null Het
Gpr156 T A 16: 37,812,468 (GRCm39) L268H probably damaging Het
Gpr17 A T 18: 32,080,304 (GRCm39) I253N possibly damaging Het
H2-T23 A T 17: 36,343,058 (GRCm39) N106K probably damaging Het
Hspa4 T C 11: 53,171,296 (GRCm39) R303G probably damaging Het
Irgm1 G A 11: 48,756,955 (GRCm39) silent Het
Jph1 A C 1: 17,067,770 (GRCm39) I114S probably damaging Het
Kcna1 C T 6: 126,619,238 (GRCm39) D361N possibly damaging Het
Kcna4 G A 2: 107,126,436 (GRCm39) R390Q probably damaging Het
Mc4r A G 18: 66,992,711 (GRCm39) L134P probably benign Het
Mroh8 A T 2: 157,099,960 (GRCm39) I248N probably damaging Het
Nos2 A G 11: 78,840,921 (GRCm39) T677A probably benign Het
Nup37 T A 10: 88,010,791 (GRCm39) F257I possibly damaging Het
Or13c3 T C 4: 52,855,764 (GRCm39) I250V probably benign Het
Or6k6 C T 1: 173,944,770 (GRCm39) V271I probably benign Het
Pdzd2 C T 15: 12,385,723 (GRCm39) D1016N possibly damaging Het
Pdzd2 A C 15: 12,419,567 (GRCm39) M501R possibly damaging Het
Pitx1 T C 13: 55,976,465 (GRCm39) K65E probably benign Het
Pla1a C T 16: 38,229,972 (GRCm39) A247T probably benign Het
Prex2 T A 1: 11,232,487 (GRCm39) S851R probably benign Het
Prss8 A G 7: 127,528,979 (GRCm39) S26P probably damaging Het
Rasef A C 4: 73,652,740 (GRCm39) L587R probably damaging Het
Rock2 T A 12: 17,027,684 (GRCm39) C1334S probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Serpina6 A G 12: 103,613,146 (GRCm39) W385R probably damaging Het
Slc12a5 T C 2: 164,821,263 (GRCm39) M249T probably benign Het
Srsf9 T A 5: 115,470,651 (GRCm39) I117N probably damaging Het
Taf1 G T X: 100,586,665 (GRCm39) M313I possibly damaging Het
Tmem30a T C 9: 79,684,567 (GRCm39) H95R probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttc21a T C 9: 119,770,346 (GRCm39) V139A probably benign Het
Zfp236 A T 18: 82,648,125 (GRCm39) V1012D probably damaging Het
Zfp612 C A 8: 110,815,929 (GRCm39) Q379K probably damaging Het
Zfp930 C T 8: 69,680,898 (GRCm39) Q198* probably null Het
Other mutations in Lum
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:Lum APN 10 97,404,547 (GRCm39) missense probably damaging 1.00
IGL01394:Lum APN 10 97,404,834 (GRCm39) missense probably damaging 1.00
IGL02160:Lum APN 10 97,404,443 (GRCm39) missense probably damaging 0.96
IGL02659:Lum APN 10 97,404,609 (GRCm39) missense probably benign
PIT4305001:Lum UTSW 10 97,404,738 (GRCm39) missense probably damaging 1.00
R0352:Lum UTSW 10 97,404,471 (GRCm39) missense probably damaging 0.97
R0403:Lum UTSW 10 97,407,905 (GRCm39) missense probably benign 0.05
R1446:Lum UTSW 10 97,404,252 (GRCm39) missense possibly damaging 0.88
R2760:Lum UTSW 10 97,404,633 (GRCm39) missense probably benign 0.16
R4154:Lum UTSW 10 97,404,815 (GRCm39) missense probably damaging 1.00
R7601:Lum UTSW 10 97,404,168 (GRCm39) missense probably damaging 1.00
R8058:Lum UTSW 10 97,404,425 (GRCm39) missense probably benign 0.00
R8747:Lum UTSW 10 97,404,351 (GRCm39) missense possibly damaging 0.88
R9334:Lum UTSW 10 97,404,347 (GRCm39) missense probably damaging 1.00
R9360:Lum UTSW 10 97,404,752 (GRCm39) nonsense probably null
R9800:Lum UTSW 10 97,404,157 (GRCm39) missense probably benign 0.00
X0065:Lum UTSW 10 97,404,842 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTTGCCTTGGCATTAGTCGG -3'
(R):5'- GTCAGCTGTAGGTCTTGCAG -3'

Sequencing Primer
(F):5'- CGGTAGTGTCAGTGGCCAATACTAC -3'
(R):5'- CTTTGGAAGTGGACCGACG -3'
Posted On 2015-07-21