Incidental Mutation 'R5179:Lrg1'
ID 399433
Institutional Source Beutler Lab
Gene Symbol Lrg1
Ensembl Gene ENSMUSG00000037095
Gene Name leucine-rich alpha-2-glycoprotein 1
Synonyms Lrhg, 1300008B03Rik, 2310031E04Rik
MMRRC Submission 042759-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R5179 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 56426678-56428946 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56427795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 59 (L59P)
Ref Sequence ENSEMBL: ENSMUSP00000038048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001256] [ENSMUST00000019808] [ENSMUST00000041357] [ENSMUST00000113072] [ENSMUST00000167545]
AlphaFold Q91XL1
Predicted Effect probably benign
Transcript: ENSMUST00000001256
SMART Domains Protein: ENSMUSP00000001256
Gene: ENSMUSG00000001227

DomainStartEndE-ValueType
low complexity region 13 21 N/A INTRINSIC
Sema 66 496 2.48e-177 SMART
PSI 527 581 4.09e-1 SMART
transmembrane domain 604 626 N/A INTRINSIC
low complexity region 655 685 N/A INTRINSIC
low complexity region 707 718 N/A INTRINSIC
low complexity region 739 760 N/A INTRINSIC
low complexity region 855 866 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000019808
SMART Domains Protein: ENSMUSP00000019808
Gene: ENSMUSG00000011305

DomainStartEndE-ValueType
Pfam:Perilipin 31 383 1.2e-119 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000041357
AA Change: L59P

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038048
Gene: ENSMUSG00000037095
AA Change: L59P

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
LRR 84 107 1.86e0 SMART
LRR_TYP 108 131 3.63e-3 SMART
LRR 133 155 5.89e1 SMART
LRR_TYP 156 179 1.45e-2 SMART
LRR_TYP 180 203 8.47e-4 SMART
LRR 205 227 2.08e1 SMART
LRR 229 251 1.91e1 SMART
LRR 252 275 5.34e-1 SMART
LRRCT 292 342 9.69e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113072
SMART Domains Protein: ENSMUSP00000108695
Gene: ENSMUSG00000011305

DomainStartEndE-ValueType
Pfam:Perilipin 27 384 2.3e-128 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167545
SMART Domains Protein: ENSMUSP00000130985
Gene: ENSMUSG00000001227

DomainStartEndE-ValueType
low complexity region 13 21 N/A INTRINSIC
Sema 66 496 2.48e-177 SMART
PSI 527 581 4.09e-1 SMART
transmembrane domain 604 626 N/A INTRINSIC
low complexity region 655 685 N/A INTRINSIC
low complexity region 707 718 N/A INTRINSIC
low complexity region 739 760 N/A INTRINSIC
low complexity region 855 866 N/A INTRINSIC
Meta Mutation Damage Score 0.7661 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 97% (37/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The leucine-rich repeat (LRR) family of proteins, including LRG1, have been shown to be involved in protein-protein interaction, signal transduction, and cell adhesion and development. LRG1 is expressed during granulocyte differentiation (O'Donnell et al., 2002 [PubMed 12223515]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B9d2 C A 7: 25,380,826 (GRCm39) H5Q probably damaging Het
Bhlhe40 T C 6: 108,642,169 (GRCm39) I371T possibly damaging Het
Bmp8a C T 4: 123,207,094 (GRCm39) R389H probably damaging Het
Cc2d2a T A 5: 43,845,563 (GRCm39) N326K possibly damaging Het
Ccdc154 A G 17: 25,390,137 (GRCm39) N545S probably benign Het
Ccser2 A T 14: 36,601,308 (GRCm39) S359T possibly damaging Het
Cd22 T A 7: 30,575,299 (GRCm39) T248S possibly damaging Het
Cylc2 T C 4: 51,228,587 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,363,759 (GRCm39) I4107T probably damaging Het
Egf T A 3: 129,479,936 (GRCm39) H488L probably damaging Het
Epb41l4b A G 4: 57,063,181 (GRCm39) V503A probably benign Het
Exd2 G T 12: 80,531,118 (GRCm39) W105L probably damaging Het
Flrt2 A T 12: 95,747,121 (GRCm39) R486S probably benign Het
Gadl1 C A 9: 115,789,448 (GRCm39) C251* probably null Het
Ifit2 C A 19: 34,550,976 (GRCm39) P172Q probably damaging Het
Incenp G C 19: 9,872,273 (GRCm39) Q62E unknown Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Luc7l3 T C 11: 94,190,879 (GRCm39) E145G possibly damaging Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Ndst3 A G 3: 123,346,181 (GRCm39) S698P probably damaging Het
Nploc4 T C 11: 120,299,682 (GRCm39) D346G probably benign Het
Or4m1 G A 14: 50,557,993 (GRCm39) Q100* probably null Het
Or56b1b T C 7: 108,164,433 (GRCm39) I190V probably benign Het
Osbpl8 T G 10: 111,108,025 (GRCm39) D298E probably benign Het
Pcna-ps2 T C 19: 9,260,891 (GRCm39) L50P probably damaging Het
Ptgir C T 7: 16,641,253 (GRCm39) P182S probably damaging Het
Rictor A G 15: 6,825,421 (GRCm39) Y1653C probably damaging Het
Sgcd T A 11: 46,871,711 (GRCm39) E208V probably benign Het
Slc7a8 A T 14: 54,962,289 (GRCm39) C448* probably null Het
Sos2 G A 12: 69,697,502 (GRCm39) R73* probably null Het
Tecpr2 A G 12: 110,911,127 (GRCm39) T1055A possibly damaging Het
Usp47 T C 7: 111,692,639 (GRCm39) Y1014H probably damaging Het
Vmn2r6 A T 3: 64,445,411 (GRCm39) F682L probably benign Het
Other mutations in Lrg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01465:Lrg1 APN 17 56,427,705 (GRCm39) missense probably benign 0.45
R5229:Lrg1 UTSW 17 56,427,154 (GRCm39) missense probably damaging 0.98
R7133:Lrg1 UTSW 17 56,427,592 (GRCm39) missense possibly damaging 0.73
R7806:Lrg1 UTSW 17 56,426,967 (GRCm39) missense probably benign 0.01
X0019:Lrg1 UTSW 17 56,427,776 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- AGAGCATTGCGGGTCAGATC -3'
(R):5'- AAGGACTCAGTGGGTACAGTTTAGG -3'

Sequencing Primer
(F):5'- ATTGCGGGTCAGATCCAGGG -3'
(R):5'- GGGAGATATTTTTCACCATGGTTCAC -3'
Posted On 2016-07-06