Incidental Mutation 'R4210:Lrig2'
ID 319112
Institutional Source Beutler Lab
Gene Symbol Lrig2
Ensembl Gene ENSMUSG00000032913
Gene Name leucine-rich repeats and immunoglobulin-like domains 2
Synonyms 4632419I10Rik
MMRRC Submission 041039-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4210 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 104361296-104419251 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 104374620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 154 (V154I)
Ref Sequence ENSEMBL: ENSMUSP00000142373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046316] [ENSMUST00000198332] [ENSMUST00000199070]
AlphaFold Q52KR2
Predicted Effect probably benign
Transcript: ENSMUST00000046316
AA Change: V512I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035999
Gene: ENSMUSG00000032913
AA Change: V512I

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 benign
Transcript: ENSMUST00000198332
AA Change: V512I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142540
Gene: ENSMUSG00000032913
AA Change: V512I

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 benign
Transcript: ENSMUST00000199070
AA Change: V154I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000142373
Gene: ENSMUSG00000032913
AA Change: V154I

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 noncoding transcript
Transcript: ENSMUST00000199385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200453
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C T 2: 68,490,222 (GRCm39) probably benign Het
Abl1 T C 2: 31,691,708 (GRCm39) Y1076H probably damaging Het
Adamts7 C T 9: 90,076,063 (GRCm39) T1265I possibly damaging Het
Adgb T C 10: 10,283,209 (GRCm39) I166V probably benign Het
Axin2 T A 11: 108,833,402 (GRCm39) I529N possibly damaging Het
Bbof1 T C 12: 84,455,957 (GRCm39) M1T probably null Het
Clcc1 A T 3: 108,570,907 (GRCm39) Y105F possibly damaging Het
Cmpk2 G T 12: 26,519,570 (GRCm39) A74S probably benign Het
Colgalt1 G A 8: 72,075,350 (GRCm39) V419I probably benign Het
Crybg3 A G 16: 59,364,414 (GRCm39) S2403P probably damaging Het
D930048N14Rik G A 11: 51,545,632 (GRCm39) probably benign Het
Dnah7b T A 1: 46,176,578 (GRCm39) C733S possibly damaging Het
Drc1 G A 5: 30,504,490 (GRCm39) V211M possibly damaging Het
Ephx2 T C 14: 66,322,393 (GRCm39) T525A probably damaging Het
Eya4 A G 10: 23,102,698 (GRCm39) probably null Het
Foxc1 T C 13: 31,991,690 (GRCm39) F167S probably damaging Het
Fsip2 C T 2: 82,805,493 (GRCm39) T604I probably damaging Het
Gm6370 C A 5: 146,430,734 (GRCm39) F306L possibly damaging Het
Hmgcr A G 13: 96,796,729 (GRCm39) V187A probably damaging Het
Igkv9-129 T A 6: 67,817,242 (GRCm39) S114R possibly damaging Het
Ikbke T A 1: 131,191,085 (GRCm39) I519F probably damaging Het
Ikzf3 T C 11: 98,381,313 (GRCm39) Y89C probably benign Het
Inpp5j T G 11: 3,451,107 (GRCm39) H514P probably damaging Het
Iqsec3 T C 6: 121,389,999 (GRCm39) probably benign Het
Itga3 C A 11: 94,953,449 (GRCm39) V298L probably benign Het
Kel C T 6: 41,675,359 (GRCm39) W297* probably null Het
Larp7 T A 3: 127,340,603 (GRCm39) R112S probably benign Het
Lbh T A 17: 73,228,178 (GRCm39) probably null Het
Lrba G A 3: 86,267,433 (GRCm39) G1708S probably damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mast4 A T 13: 102,875,713 (GRCm39) F1318L probably damaging Het
Ncam2 T C 16: 81,323,991 (GRCm39) V545A probably benign Het
Numa1 T G 7: 101,658,945 (GRCm39) L356R probably damaging Het
Or2w1 A T 13: 21,317,607 (GRCm39) I221L possibly damaging Het
Or6n2 G A 1: 173,897,574 (GRCm39) A237T probably damaging Het
Pcgf5 C A 19: 36,414,740 (GRCm39) N26K possibly damaging Het
Pdlim4 T G 11: 53,946,744 (GRCm39) D181A possibly damaging Het
Phtf1 G A 3: 103,910,919 (GRCm39) probably null Het
Pik3r4 G A 9: 105,527,957 (GRCm39) A437T possibly damaging Het
Proser3 G A 7: 30,245,525 (GRCm39) probably benign Het
Rax T A 18: 66,068,152 (GRCm39) N318Y unknown Het
Rnf152 A G 1: 105,212,077 (GRCm39) V160A probably benign Het
Serpina3a A T 12: 104,084,902 (GRCm39) D99V probably benign Het
Sidt2 T C 9: 45,854,073 (GRCm39) T652A probably benign Het
Slc12a7 A G 13: 73,962,962 (GRCm39) Y1054C probably damaging Het
Slc9a5 A G 8: 106,085,103 (GRCm39) N535D possibly damaging Het
Sspo C A 6: 48,441,835 (GRCm39) H1948Q probably benign Het
Stap2 G T 17: 56,304,827 (GRCm39) Y318* probably null Het
Sytl1 T C 4: 132,980,876 (GRCm39) D421G probably damaging Het
Taar7e A T 10: 23,913,932 (GRCm39) I141F probably damaging Het
Taar7f T A 10: 23,925,921 (GRCm39) W172R probably damaging Het
Tcn2 T C 11: 3,872,114 (GRCm39) K338E possibly damaging Het
Tenm3 C T 8: 48,802,439 (GRCm39) G374D probably damaging Het
Terf2 A G 8: 107,806,080 (GRCm39) S291P probably damaging Het
Tex16 T A X: 111,030,640 (GRCm39) D1046E probably benign Het
Tmod4 A G 3: 95,035,140 (GRCm39) D215G probably benign Het
Tnxb T C 17: 34,929,951 (GRCm39) I2895T possibly damaging Het
Tsbp1 G T 17: 34,679,257 (GRCm39) probably benign Het
Urgcp C A 11: 5,665,878 (GRCm39) G820V probably damaging Het
Uxs1 T A 1: 43,789,398 (GRCm39) H419L possibly damaging Het
Vmn1r152 A T 7: 22,223,004 (GRCm39) T205S possibly damaging Het
Vmn1r79 A G 7: 11,910,415 (GRCm39) Y99C possibly damaging Het
Zc3h14 A G 12: 98,751,658 (GRCm39) H199R probably damaging Het
Zfand2b A T 1: 75,146,454 (GRCm39) M110L probably benign Het
Zfp976 A G 7: 42,265,749 (GRCm39) F12S 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
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
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'- AAGTCCAGTAGCACAATTCCTTACC -3'
(R):5'- CTCCTGGGGCTGAAACATAC -3'

Sequencing Primer
(F):5'- GTAACAATGCACTGGTATTTCCC -3'
(R):5'- CATCTGTAATGGGATCTGATGCCC -3'
Posted On 2015-06-10