Incidental Mutation 'IGL02043:Lrrtm4'
ID184817
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: 0.226) question?
Stock #IGL02043
Quality Score
Status
Chromosome6
Chromosomal Location80018877-80810143 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 80021862 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 86 (N86D)
Ref Sequence ENSEMBL: ENSMUSP00000117263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074662] [ENSMUST00000126005] [ENSMUST00000126399] [ENSMUST00000128718] [ENSMUST00000133918] [ENSMUST00000136421] [ENSMUST00000145407] [ENSMUST00000147663]
Predicted Effect possibly damaging
Transcript: ENSMUST00000074662
AA Change: N85D

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074232
Gene: ENSMUSG00000052581
AA Change: N85D

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 4e-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 possibly damaging
Transcript: ENSMUST00000126005
AA Change: N85D

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117445
Gene: ENSMUSG00000052581
AA Change: N85D

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 4e-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 possibly damaging
Transcript: ENSMUST00000126399
AA Change: N85D

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121124
Gene: ENSMUSG00000052581
AA Change: N85D

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: ENSMUST00000128718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130734
Predicted Effect possibly damaging
Transcript: ENSMUST00000133918
AA Change: N85D

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115016
Gene: ENSMUSG00000052581
AA Change: N85D

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 possibly damaging
Transcript: ENSMUST00000136421
AA Change: N86D

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121621
Gene: ENSMUSG00000052581
AA Change: N86D

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 4e-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
Predicted Effect possibly damaging
Transcript: ENSMUST00000145407
AA Change: N85D

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114465
Gene: ENSMUSG00000052581
AA Change: N85D

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
LRRNT 33 65 1.66e0 SMART
Blast:LRR_TYP 84 104 3e-7 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000147663
AA Change: N86D

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117263
Gene: ENSMUSG00000052581
AA Change: N86D

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610037L13Rik T G 4: 107,894,868 probably benign Het
Atp1b2 T C 11: 69,605,276 T33A probably benign Het
Brd2 A T 17: 34,112,616 probably benign Het
Carmil1 T C 13: 24,024,316 probably benign Het
Cdh9 A T 15: 16,856,232 D786V probably damaging Het
Cep128 A C 12: 91,266,730 probably benign Het
Cep85 T C 4: 134,155,727 T284A probably benign Het
Chrna1 C T 2: 73,568,106 E330K probably benign Het
Clec2l T C 6: 38,676,850 Y104H probably damaging Het
Clybl G T 14: 122,379,252 K226N probably damaging Het
Cmip T A 8: 117,445,328 D467E probably benign Het
Cpne3 A T 4: 19,543,340 probably null Het
Crisp4 A G 1: 18,134,100 V46A probably damaging Het
Csnk2a1 T C 2: 152,274,150 Y261H probably damaging Het
Cul5 C A 9: 53,658,673 G86V probably benign Het
Depdc7 T C 2: 104,730,281 T123A probably benign Het
Edem2 T C 2: 155,705,741 T384A probably damaging Het
F8 C T X: 75,332,641 M377I probably benign Het
Fan1 T A 7: 64,371,619 probably null Het
Fez2 T C 17: 78,381,622 D366G probably damaging Het
Gm4841 A C 18: 60,270,965 S19A probably benign Het
Gm4862 T A 3: 139,128,635 noncoding transcript Het
Hk3 T A 13: 55,015,095 Q44L probably damaging Het
Irgm1 C A 11: 48,866,815 L56F probably damaging Het
Ldlr A G 9: 21,733,499 T108A probably benign Het
Lgr4 T A 2: 110,011,290 M516K probably damaging Het
Lrp1b T C 2: 40,697,525 N3906S probably null Het
Map3k2 A G 18: 32,207,534 D198G probably damaging Het
Mapkapk3 C T 9: 107,262,422 probably null Het
Mvp A T 7: 126,993,618 Y374N probably damaging Het
Myo3a T C 2: 22,399,965 S711P probably benign Het
Myom3 A G 4: 135,770,675 K189E probably damaging Het
Naip1 T A 13: 100,426,796 K620N probably benign Het
Nlrp10 T C 7: 108,925,502 E257G probably damaging Het
Nptn T G 9: 58,640,729 M139R possibly damaging Het
Nrk T G X: 138,988,795 M1105R possibly damaging Het
Olfr357 T A 2: 36,997,465 Y218* probably null Het
Olfr519 A T 7: 108,893,839 C189* probably null Het
Olfr963 T G 9: 39,669,078 V7G probably damaging Het
Pcdhb16 A G 18: 37,479,195 T403A probably benign Het
Pcyt1b A G X: 93,702,116 E50G possibly damaging Het
Pigg C T 5: 108,344,324 T892I probably damaging Het
Ppig T G 2: 69,735,983 probably null Het
Prr12 A G 7: 45,050,005 probably benign Het
Slc5a5 G T 8: 70,892,429 A78E possibly damaging Het
Slc7a2 T G 8: 40,911,058 M436R probably benign Het
Sp7 T A 15: 102,359,255 M39L probably benign Het
Spag8 T A 4: 43,653,134 probably benign Het
Svep1 A G 4: 58,068,556 S3077P probably benign Het
Tmem30a A T 9: 79,774,089 probably benign Het
Tmem63a C T 1: 180,972,788 T714I probably benign Het
Trank1 T C 9: 111,363,960 L535P probably damaging Het
Tuba8 A C 6: 121,220,511 N44T probably benign Het
Wnk1 A G 6: 119,949,078 probably benign Het
Zfp654 A T 16: 64,785,028 I396K probably benign Het
Other mutations in Lrrtm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Lrrtm4 APN 6 80022546 missense probably damaging 1.00
IGL02603:Lrrtm4 APN 6 80022984 missense possibly damaging 0.92
IGL02614:Lrrtm4 APN 6 80021844 missense probably benign 0.01
IGL02735:Lrrtm4 APN 6 80809050 missense probably benign
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
Posted On2014-05-07