Incidental Mutation 'IGL02735:Lrrtm4'
ID305608
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrtm4
Ensembl Gene ENSMUSG00000052581
Gene Nameleucine rich repeat transmembrane neuronal 4
Synonyms7530419J18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.165) question?
Stock #IGL02735
Quality Score
Status
Chromosome6
Chromosomal Location80018877-80810143 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 80809050 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 546 (H546R)
Ref Sequence ENSEMBL: ENSMUSP00000117263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126399] [ENSMUST00000133918] [ENSMUST00000147663]
Predicted Effect probably benign
Transcript: ENSMUST00000126399
AA Change: H545R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121124
Gene: ENSMUSG00000052581
AA Change: H545R

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
LRRNT 33 65 1.66e0 SMART
LRR_TYP 84 107 6.67e-2 SMART
LRR 108 131 3.52e-1 SMART
LRR_TYP 132 155 2.53e-2 SMART
LRR 156 179 1.16e-1 SMART
LRR 180 203 4.34e-1 SMART
LRR 204 224 2.4e1 SMART
LRR 228 251 4.97e0 SMART
LRR 252 275 1.07e0 SMART
LRR 276 299 1.64e-1 SMART
Blast:LRRCT 311 361 2e-25 BLAST
low complexity region 375 392 N/A INTRINSIC
transmembrane domain 425 447 N/A INTRINSIC
low complexity region 464 469 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133918
AA Change: H545R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115016
Gene: ENSMUSG00000052581
AA Change: H545R

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
LRRNT 33 65 1.66e0 SMART
LRR_TYP 84 107 6.67e-2 SMART
LRR 108 131 3.52e-1 SMART
LRR_TYP 132 155 2.53e-2 SMART
LRR 156 179 1.16e-1 SMART
LRR 180 203 4.34e-1 SMART
LRR 204 224 2.4e1 SMART
LRR 228 251 4.97e0 SMART
LRR 252 275 1.07e0 SMART
LRR 276 299 1.64e-1 SMART
Blast:LRRCT 311 361 2e-25 BLAST
low complexity region 375 392 N/A INTRINSIC
transmembrane domain 425 447 N/A INTRINSIC
low complexity region 464 469 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147663
AA Change: H546R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117263
Gene: ENSMUSG00000052581
AA Change: H546R

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
LRRNT 34 66 1.66e0 SMART
LRR_TYP 85 108 6.67e-2 SMART
LRR 109 132 3.52e-1 SMART
LRR_TYP 133 156 2.53e-2 SMART
LRR 157 180 1.16e-1 SMART
LRR 181 204 4.34e-1 SMART
LRR 205 225 2.4e1 SMART
LRR 229 252 4.97e0 SMART
LRR 253 276 1.07e0 SMART
LRR 277 300 1.64e-1 SMART
Blast:LRRCT 312 362 2e-25 BLAST
low complexity region 376 393 N/A INTRINSIC
transmembrane domain 426 448 N/A INTRINSIC
low complexity region 465 470 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired excitatory synapse development and excitatory transmission in dentate gyrus granule cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Acss1 A T 2: 150,638,467 V228E probably damaging Het
Ampd1 T A 3: 103,085,377 M145K probably damaging Het
Ankhd1 G A 18: 36,648,546 S2217N probably benign Het
Asph T A 4: 9,598,759 D211V probably damaging Het
C87414 G A 5: 93,638,644 P89S possibly damaging Het
Cd55b A T 1: 130,388,676 W379R probably damaging Het
Derl3 A G 10: 75,895,116 T201A probably damaging Het
Efcab6 A G 15: 83,899,697 L1008P probably damaging Het
Eif4g3 A G 4: 138,126,211 I363V probably benign Het
Heatr5a A G 12: 51,915,021 F1058L probably damaging Het
Hmcn1 A T 1: 150,646,832 M3439K probably benign Het
Ift140 C A 17: 25,034,035 probably benign Het
Itgad A G 7: 128,193,716 Y832C probably damaging Het
Itgb2 T A 10: 77,549,999 D265E possibly damaging Het
Kif19a A T 11: 114,785,567 E449V probably damaging Het
Krt40 T C 11: 99,538,635 E291G probably damaging Het
Lama2 T C 10: 27,104,128 N1897S probably damaging Het
Lepr A G 4: 101,782,638 Y767C probably damaging Het
March6 A G 15: 31,486,120 S362P probably benign Het
Med12l A G 3: 59,093,646 Y734C probably damaging Het
Mrps18a C T 17: 46,122,799 R74C probably damaging Het
Mvk A G 5: 114,450,819 E174G probably benign Het
Naip2 A G 13: 100,160,214 S1105P probably damaging Het
Nrxn3 A G 12: 89,254,854 M468V probably benign Het
Obscn T C 11: 59,093,349 E1760G probably damaging Het
Pcsk5 C A 19: 17,675,468 G285W probably damaging Het
Pgpep1l A G 7: 68,236,973 I196T probably benign Het
Phf14 T C 6: 11,987,612 M630T probably benign Het
Plod2 T C 9: 92,595,389 probably benign Het
Poldip2 G A 11: 78,512,336 A9T probably benign Het
Pou2f1 A G 1: 165,875,827 S718P probably damaging Het
Ptpre A T 7: 135,667,567 Y246F probably damaging Het
Pudp T C 18: 50,568,332 H110R probably benign Het
Scaf4 C T 16: 90,245,515 G646E unknown Het
Sec16a T A 2: 26,428,137 probably benign Het
Serpina5 A G 12: 104,103,857 T338A probably benign Het
Shisa5 T G 9: 109,056,012 F118V probably damaging Het
Slc6a21 G A 7: 45,286,637 probably benign Het
Sprtn T A 8: 124,903,387 V473E probably benign Het
Styxl1 A G 5: 135,759,142 I165T probably damaging Het
Tal2 T A 4: 53,785,906 I29N probably damaging Het
Tas2r134 T C 2: 51,627,827 I106T probably damaging Het
Tmem259 G A 10: 79,979,139 T217I probably damaging Het
Trpc6 T C 9: 8,655,338 I723T probably damaging Het
Vmn1r211 A T 13: 22,852,248 V83D probably damaging Het
Vmn2r103 G T 17: 19,812,248 M761I probably benign Het
Ybey A T 10: 76,468,326 I14N probably damaging Het
Other mutations in Lrrtm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Lrrtm4 APN 6 80022546 missense probably damaging 1.00
IGL02043:Lrrtm4 APN 6 80021862 missense possibly damaging 0.89
IGL02603:Lrrtm4 APN 6 80022984 missense possibly damaging 0.92
IGL02614:Lrrtm4 APN 6 80021844 missense probably benign 0.01
IGL02812:Lrrtm4 APN 6 80021964 missense probably damaging 1.00
IGL02885:Lrrtm4 APN 6 80021803 missense probably damaging 1.00
IGL02956:Lrrtm4 APN 6 80021650 missense probably benign 0.04
IGL03242:Lrrtm4 APN 6 80022088 missense probably benign 0.22
R0504:Lrrtm4 UTSW 6 80022046 missense probably damaging 1.00
R0537:Lrrtm4 UTSW 6 80022120 missense probably benign 0.02
R0656:Lrrtm4 UTSW 6 80021970 missense possibly damaging 0.87
R0698:Lrrtm4 UTSW 6 80022928 missense probably damaging 1.00
R1651:Lrrtm4 UTSW 6 80022528 missense probably benign 0.06
R2126:Lrrtm4 UTSW 6 80021739 missense probably damaging 1.00
R2211:Lrrtm4 UTSW 6 80022640 missense probably benign 0.00
R2363:Lrrtm4 UTSW 6 80021874 missense probably damaging 1.00
R3732:Lrrtm4 UTSW 6 80019655 intron probably benign
R3817:Lrrtm4 UTSW 6 80022061 missense probably benign 0.00
R4814:Lrrtm4 UTSW 6 80023134 missense possibly damaging 0.69
R5304:Lrrtm4 UTSW 6 80022700 missense probably benign 0.01
R5318:Lrrtm4 UTSW 6 80022512 missense probably damaging 1.00
R5327:Lrrtm4 UTSW 6 80022637 missense probably damaging 1.00
R5931:Lrrtm4 UTSW 6 80021739 missense probably damaging 0.99
R6195:Lrrtm4 UTSW 6 80021956 missense probably damaging 1.00
R7597:Lrrtm4 UTSW 6 80022445 nonsense probably null
R7793:Lrrtm4 UTSW 6 80022858 missense probably damaging 0.97
R7875:Lrrtm4 UTSW 6 80022360 missense possibly damaging 0.89
R8058:Lrrtm4 UTSW 6 80022545 missense probably benign
R8238:Lrrtm4 UTSW 6 80022685 missense probably damaging 0.97
Z1177:Lrrtm4 UTSW 6 80022717 missense probably benign
Posted On2015-04-16