Incidental Mutation 'IGL01105:Lrig2'
ID 50744
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrig2
Ensembl Gene ENSMUSG00000032913
Gene Name leucine-rich repeats and immunoglobulin-like domains 2
Synonyms 4632419I10Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01105
Quality Score
Status
Chromosome 3
Chromosomal Location 104361296-104419251 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 104371484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 382 (R382*)
Ref Sequence ENSEMBL: ENSMUSP00000142373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046316] [ENSMUST00000198332] [ENSMUST00000199070]
AlphaFold Q52KR2
Predicted Effect probably null
Transcript: ENSMUST00000046316
AA Change: R740*
SMART Domains Protein: ENSMUSP00000035999
Gene: ENSMUSG00000032913
AA Change: R740*

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
low complexity region 68 82 N/A INTRINSIC
LRR 118 141 3.56e2 SMART
LRR 142 165 1.81e2 SMART
LRR 167 188 1.31e0 SMART
LRR 213 236 1.41e0 SMART
LRR 237 260 4.98e-1 SMART
LRR 261 284 1.49e1 SMART
LRR 285 308 1.62e0 SMART
LRR 309 332 2.14e0 SMART
LRR_TYP 333 356 2.2e-2 SMART
LRR 357 383 9.22e0 SMART
LRR 384 407 2.17e-1 SMART
LRR_TYP 408 431 3.95e-4 SMART
LRRCT 442 492 3.62e-8 SMART
IG 503 598 2.19e-9 SMART
IGc2 613 681 1.94e-10 SMART
IGc2 707 772 3.2e-11 SMART
transmembrane domain 805 827 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197018
Predicted Effect probably null
Transcript: ENSMUST00000198332
AA Change: R740*
SMART Domains Protein: ENSMUSP00000142540
Gene: ENSMUSG00000032913
AA Change: R740*

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
low complexity region 68 82 N/A INTRINSIC
LRR 118 141 3.56e2 SMART
LRR 142 165 1.81e2 SMART
LRR 167 188 1.31e0 SMART
LRR 213 236 1.41e0 SMART
LRR 237 260 4.98e-1 SMART
LRR 261 284 1.49e1 SMART
LRR 285 308 1.62e0 SMART
LRR 309 332 2.14e0 SMART
LRR_TYP 333 356 2.2e-2 SMART
LRR 357 383 9.22e0 SMART
LRR 384 407 2.17e-1 SMART
LRR_TYP 408 431 3.95e-4 SMART
LRRCT 442 492 3.62e-8 SMART
IG 503 598 2.19e-9 SMART
IGc2 613 681 1.94e-10 SMART
IGc2 707 772 3.2e-11 SMART
transmembrane domain 805 827 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000199070
AA Change: R382*
SMART Domains Protein: ENSMUSP00000142373
Gene: ENSMUSG00000032913
AA Change: R382*

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
LRRCT 84 134 1.8e-10 SMART
IG 145 240 9.2e-12 SMART
IGc2 255 323 8.1e-13 SMART
IGc2 349 414 1.3e-13 SMART
transmembrane domain 447 469 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199180
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200453
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein containing leucine-rich repeats and immunoglobulin-like domains. The encoded protein promotes epidermal growth factor signalling, resulting in increased proliferation. Its expression in the cytoplasm of glioma cells is correlated with poor survival. Mutations in this gene can cause urofacial syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced susceptibility to PDGFB-induced glioma and premature death due to illness with reduced body weight, letahrgy, hackled fur, crouched posture and increased inflammatory response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T A 11: 105,862,885 (GRCm39) V302E probably damaging Het
Ahcy T C 2: 154,909,281 (GRCm39) D86G probably benign Het
Antxr2 G T 5: 98,152,802 (GRCm39) probably benign Het
Cadps2 A G 6: 23,321,699 (GRCm39) probably benign Het
Cdhr4 C T 9: 107,873,060 (GRCm39) probably benign Het
Cdkn2c C T 4: 109,518,823 (GRCm39) V44I probably damaging Het
Chodl T C 16: 78,738,151 (GRCm39) Y40H probably damaging Het
Heatr3 A G 8: 88,888,521 (GRCm39) D391G probably benign Het
Hephl1 T C 9: 15,000,320 (GRCm39) T311A possibly damaging Het
Itpr1 G A 6: 108,358,294 (GRCm39) S620N probably benign Het
Kank1 T A 19: 25,401,680 (GRCm39) S1096T possibly damaging Het
Kank3 G A 17: 34,036,375 (GRCm39) G81E probably damaging Het
Krtap9-5 A G 11: 99,839,459 (GRCm39) I53M unknown Het
Limk2 G A 11: 3,305,475 (GRCm39) probably benign Het
Mamdc2 T A 19: 23,308,366 (GRCm39) D512V probably benign Het
Marchf1 A T 8: 66,871,529 (GRCm39) T353S possibly damaging Het
Mrc2 A G 11: 105,219,567 (GRCm39) D312G probably damaging Het
Myh9 C T 15: 77,665,678 (GRCm39) M627I probably benign Het
Nipa2 A T 7: 55,583,193 (GRCm39) I184N probably damaging Het
Npy1r A G 8: 67,157,428 (GRCm39) K246R probably benign Het
Pank4 C T 4: 155,056,922 (GRCm39) probably benign Het
Pcdh12 T A 18: 38,408,400 (GRCm39) E1035D probably damaging Het
Pias2 T A 18: 77,220,852 (GRCm39) D362E probably damaging Het
Pkd1l3 G T 8: 110,388,873 (GRCm39) V1872L possibly damaging Het
Postn T G 3: 54,270,131 (GRCm39) I70S probably damaging Het
Ppef2 A G 5: 92,397,055 (GRCm39) S107P possibly damaging Het
Prl3c1 T C 13: 27,386,408 (GRCm39) V131A probably benign Het
Qsox2 A G 2: 26,099,697 (GRCm39) V609A probably benign Het
Rhebl1 C A 15: 98,776,379 (GRCm39) E139D probably benign Het
Ryr3 A G 2: 112,582,150 (GRCm39) S2848P probably damaging Het
Scd2 T A 19: 44,286,497 (GRCm39) I109N probably benign Het
Sim1 A G 10: 50,857,630 (GRCm39) H460R probably damaging Het
Slc35f3 C A 8: 127,025,553 (GRCm39) P10Q probably damaging Het
Slf1 T C 13: 77,249,031 (GRCm39) probably benign Het
Stk10 G T 11: 32,527,740 (GRCm39) V163L probably benign Het
Tssk6 A G 8: 70,355,462 (GRCm39) T169A probably benign Het
Usp28 T A 9: 48,921,550 (GRCm39) V256E probably damaging Het
Vmn2r77 A T 7: 86,460,872 (GRCm39) I733F probably damaging Het
Other mutations in Lrig2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00657:Lrig2 APN 3 104,374,487 (GRCm39) missense probably damaging 0.99
IGL00715:Lrig2 APN 3 104,371,264 (GRCm39) missense probably damaging 1.00
IGL01767:Lrig2 APN 3 104,398,861 (GRCm39) missense probably benign 0.12
IGL02080:Lrig2 APN 3 104,371,440 (GRCm39) missense probably damaging 1.00
IGL02088:Lrig2 APN 3 104,374,424 (GRCm39) missense probably damaging 1.00
IGL02967:Lrig2 APN 3 104,401,512 (GRCm39) intron probably benign
IGL03024:Lrig2 APN 3 104,401,389 (GRCm39) missense probably damaging 1.00
IGL03079:Lrig2 APN 3 104,398,287 (GRCm39) missense probably damaging 0.98
IGL03085:Lrig2 APN 3 104,374,575 (GRCm39) missense probably damaging 1.00
IGL03162:Lrig2 APN 3 104,371,613 (GRCm39) missense probably damaging 1.00
Belladonna UTSW 3 104,374,682 (GRCm39) splice site probably benign
R0414:Lrig2 UTSW 3 104,401,372 (GRCm39) critical splice donor site probably null
R0866:Lrig2 UTSW 3 104,371,591 (GRCm39) missense probably benign 0.00
R1184:Lrig2 UTSW 3 104,398,227 (GRCm39) missense possibly damaging 0.94
R1524:Lrig2 UTSW 3 104,371,192 (GRCm39) missense probably benign 0.38
R1606:Lrig2 UTSW 3 104,387,423 (GRCm39) critical splice donor site probably null
R1672:Lrig2 UTSW 3 104,399,128 (GRCm39) missense probably damaging 1.00
R1701:Lrig2 UTSW 3 104,401,993 (GRCm39) missense probably benign 0.02
R1778:Lrig2 UTSW 3 104,374,682 (GRCm39) splice site probably benign
R2034:Lrig2 UTSW 3 104,401,408 (GRCm39) missense probably benign
R2100:Lrig2 UTSW 3 104,418,946 (GRCm39) missense possibly damaging 0.76
R2186:Lrig2 UTSW 3 104,375,914 (GRCm39) missense probably benign 0.00
R3778:Lrig2 UTSW 3 104,365,277 (GRCm39) missense probably benign
R3977:Lrig2 UTSW 3 104,365,160 (GRCm39) missense probably damaging 1.00
R4119:Lrig2 UTSW 3 104,374,511 (GRCm39) missense probably benign 0.00
R4210:Lrig2 UTSW 3 104,374,620 (GRCm39) missense probably benign 0.00
R4612:Lrig2 UTSW 3 104,370,099 (GRCm39) missense probably damaging 1.00
R4872:Lrig2 UTSW 3 104,398,842 (GRCm39) missense possibly damaging 0.66
R5020:Lrig2 UTSW 3 104,365,217 (GRCm39) missense possibly damaging 0.71
R5499:Lrig2 UTSW 3 104,368,873 (GRCm39) missense probably benign 0.00
R5687:Lrig2 UTSW 3 104,371,388 (GRCm39) splice site probably null
R5718:Lrig2 UTSW 3 104,375,931 (GRCm39) nonsense probably null
R5886:Lrig2 UTSW 3 104,370,014 (GRCm39) missense probably benign 0.01
R5921:Lrig2 UTSW 3 104,370,070 (GRCm39) nonsense probably null
R6434:Lrig2 UTSW 3 104,398,863 (GRCm39) missense possibly damaging 0.91
R6468:Lrig2 UTSW 3 104,374,509 (GRCm39) missense probably damaging 1.00
R6513:Lrig2 UTSW 3 104,373,045 (GRCm39) missense probably damaging 1.00
R6675:Lrig2 UTSW 3 104,365,251 (GRCm39) missense probably benign 0.35
R7243:Lrig2 UTSW 3 104,404,883 (GRCm39) splice site probably null
R7395:Lrig2 UTSW 3 104,404,836 (GRCm39) missense probably benign 0.00
R7444:Lrig2 UTSW 3 104,404,829 (GRCm39) nonsense probably null
R7514:Lrig2 UTSW 3 104,373,076 (GRCm39) missense probably damaging 1.00
R7751:Lrig2 UTSW 3 104,401,985 (GRCm39) nonsense probably null
R8720:Lrig2 UTSW 3 104,418,998 (GRCm39) missense probably damaging 0.99
R8809:Lrig2 UTSW 3 104,368,993 (GRCm39) missense probably benign 0.00
R9019:Lrig2 UTSW 3 104,368,914 (GRCm39) missense probably benign 0.27
R9204:Lrig2 UTSW 3 104,387,438 (GRCm39) missense possibly damaging 0.81
R9215:Lrig2 UTSW 3 104,398,324 (GRCm39) missense probably benign 0.00
R9549:Lrig2 UTSW 3 104,398,191 (GRCm39) missense probably damaging 0.97
R9562:Lrig2 UTSW 3 104,375,924 (GRCm39) missense possibly damaging 0.69
R9664:Lrig2 UTSW 3 104,371,556 (GRCm39) missense probably damaging 1.00
R9773:Lrig2 UTSW 3 104,368,838 (GRCm39) missense probably benign 0.27
Posted On 2013-06-21