Incidental Mutation 'IGL00835:Lrrtm2'
ID12714
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrtm2
Ensembl Gene ENSMUSG00000071862
Gene Nameleucine rich repeat transmembrane neuronal 2
SynonymsC630011A14Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00835
Quality Score
Status
Chromosome18
Chromosomal Location35209011-35215024 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 35214239 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 3 (L3F)
Ref Sequence ENSEMBL: ENSMUSP00000089225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042345] [ENSMUST00000091636]
Predicted Effect probably benign
Transcript: ENSMUST00000042345
SMART Domains Protein: ENSMUSP00000049007
Gene: ENSMUSG00000037815

DomainStartEndE-ValueType
Pfam:Vinculin 19 339 2.6e-99 PFAM
Pfam:Vinculin 333 867 3.3e-218 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000091636
AA Change: L3F

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000089225
Gene: ENSMUSG00000071862
AA Change: L3F

DomainStartEndE-ValueType
LRRNT 33 61 2.45e0 SMART
LRR_TYP 84 107 5.14e-3 SMART
LRR_TYP 108 131 3.58e-2 SMART
LRR_TYP 132 155 1.6e-4 SMART
LRR_TYP 156 179 4.24e-4 SMART
LRR 180 203 1.14e0 SMART
LRR 204 224 6.05e0 SMART
LRR 228 251 5.12e1 SMART
LRR 252 275 1.97e2 SMART
LRR 276 299 2.45e0 SMART
Blast:LRRCT 311 360 2e-11 BLAST
transmembrane domain 422 444 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype NO_PHENOTYPE,Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. A conditional knockout in surface epithelium results in defects in hair follicle development and epidermal morphogenesis.
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,302,733 D1023G probably damaging Het
Agbl3 A G 6: 34,799,732 D391G probably damaging Het
Aggf1 C A 13: 95,362,477 V450F probably damaging Het
Alms1 A G 6: 85,622,134 Y1314C probably damaging Het
Arfgef3 A G 10: 18,661,358 F192L probably benign Het
Arnt A G 3: 95,490,340 D541G probably damaging Het
AU040320 A G 4: 126,757,071 probably null Het
Cep290 A T 10: 100,563,380 R2255* probably null Het
Creb3l4 T A 3: 90,241,987 H138L possibly damaging Het
Crispld2 G A 8: 120,010,648 R46H probably damaging Het
Crlf3 T C 11: 80,047,675 T379A probably benign Het
Ctsb T A 14: 63,135,650 D85E probably damaging Het
Etv2 A T 7: 30,633,667 D325E probably benign Het
Fggy T A 4: 95,837,628 I335N possibly damaging Het
Fkbp1b C T 12: 4,833,726 G90S probably damaging Het
Glra3 A G 8: 55,940,977 probably benign Het
Gpatch8 C A 11: 102,478,549 A1388S probably damaging Het
Grin2b T A 6: 135,733,570 S993C probably damaging Het
Gsg1 A T 6: 135,244,092 M103K possibly damaging Het
Il12rb2 A T 6: 67,360,567 V110D probably damaging Het
Kat8 A G 7: 127,920,504 D174G probably damaging Het
Krt82 A T 15: 101,543,378 I334N probably damaging Het
Lrrfip1 C T 1: 91,115,418 T515I possibly damaging Het
Man1c1 T A 4: 134,564,532 Q575L probably damaging Het
Panx1 A G 9: 15,007,844 S240P probably damaging Het
Phldb2 G A 16: 45,751,456 T1191I probably damaging Het
Plb1 G A 5: 32,364,172 E1456K unknown Het
Prtn3 A G 10: 79,881,052 T84A probably benign Het
R3hdm1 T C 1: 128,235,632 probably benign Het
Sirpa G A 2: 129,609,183 C121Y probably damaging Het
Slc9a3 C A 13: 74,160,302 H475N probably benign Het
Smgc A T 15: 91,844,420 D121V probably damaging Het
Spata16 A T 3: 26,924,262 E459V probably damaging Het
Sult2a4 T A 7: 13,909,789 E284D probably benign Het
Tbc1d32 A G 10: 56,089,846 probably benign Het
Thsd7a A C 6: 12,554,934 V317G probably damaging Het
Trh T C 6: 92,242,789 E182G probably benign Het
Tsc1 A G 2: 28,672,466 D368G possibly damaging Het
Ttc39d T G 17: 80,216,526 C205G probably damaging Het
Unc79 T G 12: 103,141,890 probably benign Het
Vps13d A T 4: 145,160,652 D724E probably damaging Het
Zc3h14 T A 12: 98,747,524 probably null Het
Zfp507 G T 7: 35,776,038 H917N probably damaging Het
Other mutations in Lrrtm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Lrrtm2 APN 18 35213268 missense probably benign 0.13
IGL01097:Lrrtm2 APN 18 35212941 missense probably damaging 1.00
IGL01589:Lrrtm2 APN 18 35212798 missense probably damaging 1.00
IGL02106:Lrrtm2 APN 18 35212815 nonsense probably null
R0149:Lrrtm2 UTSW 18 35212932 missense probably benign 0.28
R0361:Lrrtm2 UTSW 18 35212932 missense probably benign 0.28
R0924:Lrrtm2 UTSW 18 35213755 missense probably damaging 1.00
R1189:Lrrtm2 UTSW 18 35213492 nonsense probably null
R1417:Lrrtm2 UTSW 18 35213958 missense probably damaging 1.00
R1585:Lrrtm2 UTSW 18 35213375 missense possibly damaging 0.86
R3433:Lrrtm2 UTSW 18 35213897 missense probably damaging 1.00
R4019:Lrrtm2 UTSW 18 35212870 missense possibly damaging 0.76
R4540:Lrrtm2 UTSW 18 35213146 missense probably benign 0.29
R4664:Lrrtm2 UTSW 18 35214257 splice site probably null
R4879:Lrrtm2 UTSW 18 35213319 missense probably damaging 0.98
R5797:Lrrtm2 UTSW 18 35213706 missense probably damaging 1.00
R7378:Lrrtm2 UTSW 18 35213592 missense probably damaging 1.00
R7387:Lrrtm2 UTSW 18 35212972 missense probably damaging 1.00
R7391:Lrrtm2 UTSW 18 35212765 missense possibly damaging 0.75
R7408:Lrrtm2 UTSW 18 35213635 missense possibly damaging 0.88
R7584:Lrrtm2 UTSW 18 35212765 missense possibly damaging 0.75
R7629:Lrrtm2 UTSW 18 35214257 splice site probably null
Z1176:Lrrtm2 UTSW 18 35214659
Posted On2012-12-06