Incidental Mutation 'R9800:Lum'
ID 735170
Institutional Source Beutler Lab
Gene Symbol Lum
Ensembl Gene ENSMUSG00000036446
Gene Name lumican
Synonyms Ldc, SLRR2D
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.281) question?
Stock # R9800 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 97401363-97408565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97404157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 17 (S17R)
Ref Sequence ENSEMBL: ENSMUSP00000040877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038160]
AlphaFold P51885
Predicted Effect probably benign
Transcript: ENSMUST00000038160
AA Change: S17R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000040877
Gene: ENSMUSG00000036446
AA Change: S17R

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.7%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,119,283 (GRCm39) I1009N possibly damaging Het
Abtb3 C A 10: 85,224,079 (GRCm39) A296E unknown Het
Adcy8 T A 15: 64,571,095 (GRCm39) N1213Y probably benign Het
Ahctf1 T C 1: 179,581,433 (GRCm39) S1590G possibly damaging Het
Ahcyl1 A T 3: 107,577,588 (GRCm39) N277K probably damaging Het
Ank2 A T 3: 126,740,149 (GRCm39) S1912T unknown Het
Ank3 T A 10: 69,733,957 (GRCm39) N740K unknown Het
Atp13a3 A C 16: 30,159,051 (GRCm39) I800S probably benign Het
AU041133 T A 10: 81,986,679 (GRCm39) C111S probably damaging Het
Azi2 T A 9: 117,884,924 (GRCm39) I211N probably benign Het
Camk2b T C 11: 5,922,408 (GRCm39) N480S probably damaging Het
Card6 A G 15: 5,128,702 (GRCm39) V898A probably benign Het
Copb2 T A 9: 98,461,081 (GRCm39) M381K probably damaging Het
Cplx3 T C 9: 57,523,060 (GRCm39) D133G probably damaging Het
Crisp1 A T 17: 40,616,071 (GRCm39) M102K probably damaging Het
Dcxr A T 11: 120,618,084 (GRCm39) probably benign Het
Dennd5a C A 7: 109,500,374 (GRCm39) R917L probably benign Het
Egflam T A 15: 7,279,525 (GRCm39) T494S probably benign Het
Fkbpl T A 17: 34,864,691 (GRCm39) M153K probably benign Het
Helz2 A T 2: 180,882,616 (GRCm39) I59N probably damaging Het
Ldlrap1 T C 4: 134,477,303 (GRCm39) T194A probably benign Het
Lrrc27 T C 7: 138,807,913 (GRCm39) M340T probably benign Het
Malrd1 A G 2: 15,847,405 (GRCm39) K1182E unknown Het
Map3k2 A T 18: 32,333,069 (GRCm39) D81V possibly damaging Het
Muc5b A T 7: 141,415,480 (GRCm39) T2809S possibly damaging Het
Nle1 C A 11: 82,793,876 (GRCm39) V387L probably benign Het
Nr1h4 T C 10: 89,290,618 (GRCm39) D474G probably benign Het
Nup205 T C 6: 35,163,468 (GRCm39) I144T possibly damaging Het
Or10ag57 G T 2: 87,218,508 (GRCm39) C153F probably damaging Het
Or1e17 C A 11: 73,831,986 (GRCm39) L305I probably benign Het
Or2a56 A T 6: 42,933,091 (GRCm39) I220F probably damaging Het
Or4f15 G A 2: 111,814,194 (GRCm39) S75L possibly damaging Het
Or4n4 G A 14: 50,519,701 (GRCm39) T3I probably benign Het
Or51f1 T C 7: 102,506,093 (GRCm39) Y132C probably benign Het
Pkn3 C T 2: 29,973,290 (GRCm39) R371* probably null Het
Plin2 A T 4: 86,586,742 (GRCm39) S30T possibly damaging Het
Ppfibp1 T C 6: 146,917,769 (GRCm39) V475A probably benign Het
Ppp2ca T C 11: 52,008,910 (GRCm39) Y137H probably damaging Het
Rasgrf2 T A 13: 92,267,860 (GRCm39) Q48L probably damaging Het
Rnf168 G C 16: 32,117,386 (GRCm39) V316L probably benign Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Spata31d1d T C 13: 59,874,637 (GRCm39) H966R possibly damaging Het
Speg C A 1: 75,399,358 (GRCm39) D2268E probably benign Het
Srp54c A G 12: 55,296,811 (GRCm39) I170V probably benign Het
Syde2 A G 3: 145,704,364 (GRCm39) R439G probably benign Het
Tcof1 T C 18: 60,949,558 (GRCm39) K1155R unknown Het
Tmem184c T C 8: 78,323,087 (GRCm39) I592V probably benign Het
Trav6-7-dv9 A G 14: 53,947,669 (GRCm39) Y57C probably damaging Het
Trpc1 T A 9: 95,625,303 (GRCm39) I108F probably damaging Het
Virma A T 4: 11,546,007 (GRCm39) H1615L probably damaging Het
Vmn2r10 A T 5: 109,150,404 (GRCm39) D213E probably damaging Het
Vmn2r116 T A 17: 23,620,399 (GRCm39) V711E probably damaging Het
Vps16 T C 2: 130,282,405 (GRCm39) F413L probably benign Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Wasf1 T C 10: 40,812,693 (GRCm39) I494T unknown Het
Wdr36 A G 18: 32,985,700 (GRCm39) D539G possibly damaging Het
Zfp81 A T 17: 33,554,411 (GRCm39) C134* 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
R4492:Lum UTSW 10 97,404,300 (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
X0065:Lum UTSW 10 97,404,842 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GAAGACACTATTTTGGAGGCACTG -3'
(R):5'- GGCCTTCTCATCAATATGGTCG -3'

Sequencing Primer
(F):5'- CACTATTTTGGAGGCACTGAAAATG -3'
(R):5'- CGATTTGGTTATTCCTCAGGTAAAG -3'
Posted On 2022-11-14