Incidental Mutation 'R2034:Lrig2'
ID 224295
Institutional Source Beutler Lab
Gene Symbol Lrig2
Ensembl Gene ENSMUSG00000032913
Gene Name leucine-rich repeats and immunoglobulin-like domains 2
Synonyms 4632419I10Rik
MMRRC Submission 040041-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2034 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 104361296-104419251 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104401408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 160 (T160A)
Ref Sequence ENSEMBL: ENSMUSP00000142540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046316] [ENSMUST00000198332] [ENSMUST00000199070]
AlphaFold Q52KR2
Predicted Effect probably benign
Transcript: ENSMUST00000046316
AA Change: T160A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035999
Gene: ENSMUSG00000032913
AA Change: T160A

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: ENSMUST00000198089
Predicted Effect probably benign
Transcript: ENSMUST00000198332
AA Change: T160A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142540
Gene: ENSMUSG00000032913
AA Change: T160A

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: ENSMUST00000198452
Predicted Effect probably benign
Transcript: ENSMUST00000199070
SMART Domains Protein: ENSMUSP00000142373
Gene: ENSMUSG00000032913

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
Meta Mutation Damage Score 0.0575 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (71/71)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik T C 11: 69,791,385 (GRCm39) I65V probably benign Het
Abca13 A G 11: 9,242,628 (GRCm39) N1497S possibly damaging Het
Afmid C A 11: 117,726,061 (GRCm39) N184K probably benign Het
Ampd2 A T 3: 107,984,679 (GRCm39) I459N possibly damaging Het
Anapc1 T C 2: 128,490,378 (GRCm39) D1018G possibly damaging Het
Ano9 T A 7: 140,688,048 (GRCm39) I223F probably damaging Het
B3gnt6 A G 7: 97,843,225 (GRCm39) L245P possibly damaging Het
Bag6 G A 17: 35,363,668 (GRCm39) R784Q probably damaging Het
Brca1 C G 11: 101,380,675 (GRCm39) S1786T probably benign Het
Btbd3 T G 2: 138,120,903 (GRCm39) S26A probably benign Het
Cacna1d C A 14: 29,811,820 (GRCm39) V1277L probably damaging Het
Casp12 C T 9: 5,346,491 (GRCm39) T6I probably damaging Het
Col7a1 T C 9: 108,792,075 (GRCm39) V1262A unknown Het
Crh C A 3: 19,748,262 (GRCm39) G127C probably damaging Het
D5Ertd579e A T 5: 36,770,882 (GRCm39) L64* probably null Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Ddc T A 11: 11,830,456 (GRCm39) I63L probably benign Het
Eif3a C T 19: 60,750,568 (GRCm39) probably benign Het
Fsip2 T A 2: 82,819,838 (GRCm39) N5190K probably benign Het
Gm5420 A G 10: 21,567,512 (GRCm39) noncoding transcript Het
Grb14 A G 2: 64,753,873 (GRCm39) probably benign Het
Gsap A T 5: 21,475,593 (GRCm39) I545F probably damaging Het
Hectd1 A T 12: 51,803,899 (GRCm39) probably null Het
Helz2 G A 2: 180,874,371 (GRCm39) P2041L probably damaging Het
Herc1 G A 9: 66,349,254 (GRCm39) A2038T probably benign Het
Il10 C A 1: 130,951,922 (GRCm39) Q152K probably benign Het
Klrg1 A G 6: 122,256,596 (GRCm39) probably null Het
Mmd2 A T 5: 142,560,939 (GRCm39) probably null Het
Mmp2 C T 8: 93,563,540 (GRCm39) S338F probably damaging Het
Nalcn T G 14: 123,521,015 (GRCm39) D1630A probably benign Het
Ncoa2 T C 1: 13,235,207 (GRCm39) S909G probably benign Het
Neb A T 2: 52,170,623 (GRCm39) M1683K possibly damaging Het
Nfe2l3 A G 6: 51,435,350 (GRCm39) I637V possibly damaging Het
Npw G A 17: 24,877,242 (GRCm39) S53F probably damaging Het
Nrbf2 A T 10: 67,111,343 (GRCm39) probably benign Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Nup188 T A 2: 30,200,097 (GRCm39) probably benign Het
Or4k15c T C 14: 50,321,440 (GRCm39) M233V probably benign Het
Or5b21 T A 19: 12,839,151 (GRCm39) M4K possibly damaging Het
Parp4 A T 14: 56,871,720 (GRCm39) I1133F probably damaging Het
Pcdhb11 T C 18: 37,555,546 (GRCm39) V292A probably benign Het
Pcnx2 A G 8: 126,545,406 (GRCm39) probably null Het
Phf2 A G 13: 48,971,206 (GRCm39) S489P unknown Het
Pik3r5 T A 11: 68,384,403 (GRCm39) N598K probably damaging Het
Pikfyve A T 1: 65,261,516 (GRCm39) E432D probably damaging Het
Pink1 T C 4: 138,045,343 (GRCm39) I274V possibly damaging Het
Pkhd1 G A 1: 20,270,893 (GRCm39) T3220I probably damaging Het
Plxna2 A G 1: 194,462,902 (GRCm39) I890V probably benign Het
Pomgnt1 T C 4: 116,015,124 (GRCm39) V492A possibly damaging Het
Prp2 G T 6: 132,572,947 (GRCm39) probably null Het
Rabl6 T C 2: 25,475,444 (GRCm39) E543G possibly damaging Het
Rgp1 T A 4: 43,581,605 (GRCm39) probably null Het
Rps6kb2 T C 19: 4,211,106 (GRCm39) T140A probably damaging Het
S100a11 T C 3: 93,433,429 (GRCm39) I91T probably benign Het
Serpine2 A G 1: 79,774,569 (GRCm39) L230P probably damaging Het
Sh3tc2 A G 18: 62,120,737 (GRCm39) D370G probably damaging Het
Sim2 A C 16: 93,886,801 (GRCm39) I43L probably damaging Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Slc14a2 A G 18: 78,226,798 (GRCm39) L419P probably damaging Het
Srgap1 C T 10: 121,628,651 (GRCm39) E817K probably damaging Het
Stag3 A G 5: 138,296,263 (GRCm39) E442G possibly damaging Het
Sulf1 A G 1: 12,890,645 (GRCm39) N361S probably damaging Het
Tmco6 A G 18: 36,870,909 (GRCm39) probably null Het
Tmem104 T A 11: 115,134,373 (GRCm39) I303N probably benign Het
Ttll6 G T 11: 96,026,352 (GRCm39) D86Y probably damaging Het
Tut4 C T 4: 108,369,392 (GRCm39) R651W probably damaging Het
Vmn1r120 T G 7: 20,786,883 (GRCm39) E276A possibly damaging Het
Vmn1r64 A G 7: 5,886,988 (GRCm39) M185T probably benign Het
Vmn2r85 A T 10: 130,262,242 (GRCm39) probably benign Het
Vwa3a A T 7: 120,381,868 (GRCm39) K568* probably null 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
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
Predicted Primers PCR Primer
(F):5'- TGTTTTACACACGCACACAC -3'
(R):5'- TGCCTTCACTATAACAGTACATGC -3'

Sequencing Primer
(F):5'- TTACCATAAACAACAGACACCGGAG -3'
(R):5'- CTTCACTATAACAGTACATGCCATTG -3'
Posted On 2014-08-25