Incidental Mutation 'R6513:Lrig2'
ID 519989
Institutional Source Beutler Lab
Gene Symbol Lrig2
Ensembl Gene ENSMUSG00000032913
Gene Name leucine-rich repeats and immunoglobulin-like domains 2
Synonyms 4632419I10Rik
MMRRC Submission 044640-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6513 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 104361296-104419251 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104373045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 612 (I612N)
Ref Sequence ENSEMBL: ENSMUSP00000142540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046316] [ENSMUST00000198332] [ENSMUST00000199070]
AlphaFold Q52KR2
Predicted Effect probably damaging
Transcript: ENSMUST00000046316
AA Change: I612N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035999
Gene: ENSMUSG00000032913
AA Change: I612N

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 damaging
Transcript: ENSMUST00000198332
AA Change: I612N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142540
Gene: ENSMUSG00000032913
AA Change: I612N

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 damaging
Transcript: ENSMUST00000199070
AA Change: I254N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142373
Gene: ENSMUSG00000032913
AA Change: I254N

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: ENSMUST00000199385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200453
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 98% (62/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T C 16: 90,852,654 (GRCm39) S161G probably benign Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Ankrd11 A G 8: 123,616,919 (GRCm39) V2290A probably benign Het
Aox4 A G 1: 58,252,212 (GRCm39) N29S probably benign Het
Arhgap17 T C 7: 122,891,379 (GRCm39) R592G possibly damaging Het
Caap1 A T 4: 94,389,640 (GRCm39) D231E possibly damaging Het
Cabp1 T A 5: 115,307,193 (GRCm39) M165L possibly damaging Het
Calhm4 T A 10: 33,917,630 (GRCm39) R274* probably null Het
Cep72 A T 13: 74,206,582 (GRCm39) L73H probably damaging Het
Cfap74 A G 4: 155,525,743 (GRCm39) S731G probably null Het
Dsc2 T C 18: 20,179,295 (GRCm39) I258V probably benign Het
Dsg1c T G 18: 20,407,687 (GRCm39) N344K probably benign Het
Enah A G 1: 181,841,920 (GRCm39) probably benign Het
Fbn1 T A 2: 125,225,591 (GRCm39) S554C probably damaging Het
Fkrp C A 7: 16,545,037 (GRCm39) R275L possibly damaging Het
Gbp4 C T 5: 105,270,986 (GRCm39) G215D possibly damaging Het
Gli2 G A 1: 118,783,284 (GRCm39) L239F probably damaging Het
Gpr146 A G 5: 139,378,573 (GRCm39) D125G probably damaging Het
Hectd4 C A 5: 121,494,259 (GRCm39) probably null Het
Invs G A 4: 48,397,534 (GRCm39) V370I possibly damaging Het
Kdm2b A G 5: 123,018,302 (GRCm39) V1040A probably damaging Het
Kidins220 T A 12: 25,088,434 (GRCm39) V1059D possibly damaging Het
Kif26a T A 12: 112,141,926 (GRCm39) S727T probably damaging Het
Kifbp T C 10: 62,410,813 (GRCm39) probably null Het
Klk1b27 A G 7: 43,705,169 (GRCm39) H112R probably benign Het
Krt72 T G 15: 101,685,187 (GRCm39) probably null Het
Lactb C T 9: 66,878,172 (GRCm39) R219H probably damaging Het
Meaf6 A C 4: 124,983,697 (GRCm39) N51T probably damaging Het
Mtap A G 4: 89,066,498 (GRCm39) T36A possibly damaging Het
Myo3a G A 2: 22,412,143 (GRCm39) G713S probably damaging Het
Nr4a3 C T 4: 48,083,255 (GRCm39) T596I probably damaging Het
Or10ak14 A T 4: 118,611,224 (GRCm39) C172* probably null Het
Or4f14 C G 2: 111,743,228 (GRCm39) G16R possibly damaging Het
Pam A G 1: 97,765,752 (GRCm39) V759A possibly damaging Het
Pcare T A 17: 72,051,701 (GRCm39) E1217V probably damaging Het
Pds5a T A 5: 65,772,944 (GRCm39) I1220F probably benign Het
Phldb2 T A 16: 45,568,240 (GRCm39) M1222L possibly damaging Het
Phospho1 C T 11: 95,721,513 (GRCm39) A61V possibly damaging Het
Pnpla7 G A 2: 24,906,550 (GRCm39) V638I possibly damaging Het
Pramel34 C A 5: 93,785,391 (GRCm39) probably null Het
Ptf1a T A 2: 19,451,848 (GRCm39) D282E probably damaging Het
Ptgs2 A T 1: 149,975,879 (GRCm39) probably benign Het
Racgap1 T C 15: 99,522,156 (GRCm39) R471G probably damaging Het
Rptn T C 3: 93,303,419 (GRCm39) S251P possibly damaging Het
Shcbp1 T C 8: 4,794,507 (GRCm39) M429V probably benign Het
Shprh T C 10: 11,062,637 (GRCm39) L1248P probably damaging Het
Son T C 16: 91,456,835 (GRCm39) probably benign Het
Sppl3 T C 5: 115,233,995 (GRCm39) L355P probably damaging Het
Tbc1d31 A T 15: 57,818,778 (GRCm39) R794W probably damaging Het
Telo2 T C 17: 25,320,386 (GRCm39) Y766C probably damaging Het
Tfr2 A G 5: 137,572,793 (GRCm39) probably null Het
Tle4 T C 19: 14,429,056 (GRCm39) D722G probably damaging Het
Tprg1l A G 4: 154,243,862 (GRCm39) V98A probably benign Het
Trak1 C T 9: 121,272,822 (GRCm39) R237C probably benign Het
Vmn2r113 T C 17: 23,177,715 (GRCm39) I833T probably damaging Het
Vmn2r118 T A 17: 55,915,093 (GRCm39) S518C probably damaging Het
Vmn2r49 A G 7: 9,710,524 (GRCm39) I736T probably damaging Het
Wdr38 T A 2: 38,889,970 (GRCm39) probably null Het
Wee2 A G 6: 40,429,553 (GRCm39) E180G probably benign Het
Zbtb1 T C 12: 76,432,604 (GRCm39) S197P possibly damaging Het
Zc3h7a T C 16: 10,976,629 (GRCm39) probably null Het
Zfp516 T A 18: 82,973,835 (GRCm39) L11Q probably damaging Het
Zfp623 G A 15: 75,819,317 (GRCm39) R91H probably benign Het
Zkscan7 G A 9: 122,725,170 (GRCm39) R713Q probably benign 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
IGL01105:Lrig2 APN 3 104,371,484 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- GAGGCCTCCTGCTATATTCTG -3'
(R):5'- AAAGACTGTTGCCAACGCTG -3'

Sequencing Primer
(F):5'- GTGCCATGCAGCTATAGATTCC -3'
(R):5'- AACGCTGTGTTGTCAGTTCAGAG -3'
Posted On 2018-06-06