Incidental Mutation 'IGL01723:Lrrn4'
ID105174
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrn4
Ensembl Gene ENSMUSG00000043110
Gene Nameleucine rich repeat neuronal 4
SynonymsB430119L13Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock #IGL01723
Quality Score
Status
Chromosome2
Chromosomal Location132868305-132880891 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 132870061 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 614 (E614G)
Ref Sequence ENSEMBL: ENSMUSP00000057005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028835] [ENSMUST00000049787] [ENSMUST00000124834] [ENSMUST00000124836] [ENSMUST00000154160]
Predicted Effect probably benign
Transcript: ENSMUST00000028835
SMART Domains Protein: ENSMUSP00000028835
Gene: ENSMUSG00000027357

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
low complexity region 71 93 N/A INTRINSIC
Pfam:CDP-OH_P_transf 107 288 1.5e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000049787
AA Change: E614G

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000057005
Gene: ENSMUSG00000043110
AA Change: E614G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LRR 105 126 7.36e0 SMART
LRR_TYP 128 151 3.44e-4 SMART
LRR 153 175 1.19e1 SMART
LRR 176 199 1.53e1 SMART
LRR 205 228 2.03e1 SMART
LRR 229 253 3.36e2 SMART
LRRCT 311 363 6.92e-2 SMART
low complexity region 520 530 N/A INTRINSIC
FN3 577 656 3.73e-10 SMART
transmembrane domain 679 701 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124834
SMART Domains Protein: ENSMUSP00000129509
Gene: ENSMUSG00000027357

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
low complexity region 71 93 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124836
SMART Domains Protein: ENSMUSP00000132682
Gene: ENSMUSG00000027357

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 1 175 1.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154160
SMART Domains Protein: ENSMUSP00000129137
Gene: ENSMUSG00000027357

DomainStartEndE-ValueType
Pfam:CDP-OH_P_transf 7 187 1.8e-15 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mutant mice exhibit impaired memory retention in hippocampus- dependent learning tasks such as contextual conditioning and spatial learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,314,168 A705V probably benign Het
Abcc10 A T 17: 46,313,745 C728S probably damaging Het
Alms1 G A 6: 85,628,094 R1773Q probably benign Het
BC067074 A T 13: 113,367,557 Q198L possibly damaging Het
C030048H21Rik A G 2: 26,254,768 S1316P possibly damaging Het
Cd86 A G 16: 36,607,124 L281S probably benign Het
Cdon C T 9: 35,503,338 P1170S probably benign Het
Col11a2 T A 17: 34,061,280 probably benign Het
Cyp2j12 A G 4: 96,102,126 V401A possibly damaging Het
Cyp7a1 A T 4: 6,272,442 I257N probably damaging Het
Ddhd2 A T 8: 25,735,011 L593* probably null Het
Dnah8 T C 17: 30,708,471 L1367S probably damaging Het
Dsg4 G A 18: 20,466,510 V728M probably damaging Het
Dsp G A 13: 38,179,084 V447M probably damaging Het
Epx C T 11: 87,869,402 R462H probably damaging Het
Fgf18 T C 11: 33,134,332 T41A probably damaging Het
Fh1 G T 1: 175,601,542 A469D probably damaging Het
Hcn1 A C 13: 117,976,055 S852R probably damaging Het
Hmcn1 A T 1: 150,744,960 S1166R probably benign Het
Krt78 C T 15: 101,951,798 G228S possibly damaging Het
Mettl9 T C 7: 121,052,269 I180T possibly damaging Het
Mgat2 A G 12: 69,185,641 T330A probably damaging Het
Myh13 T C 11: 67,369,219 probably benign Het
Nipbl G A 15: 8,335,071 T1283I possibly damaging Het
Nxpe4 A G 9: 48,398,598 D387G probably benign Het
Olfr1110 A G 2: 87,135,478 V281A probably benign Het
Olfr382 T A 11: 73,516,626 D191V probably damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Pcnt C T 10: 76,418,499 R832H possibly damaging Het
Ptprd A C 4: 76,243,673 S108R probably damaging Het
Ryr3 C T 2: 112,650,111 probably null Het
Slc22a4 C T 11: 53,988,845 V463M probably benign Het
Soga1 T C 2: 157,030,614 M938V probably benign Het
Ttn A T 2: 76,730,404 L29218I probably damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Vmn2r44 T A 7: 8,377,916 H326L probably damaging Het
Vps13d A T 4: 145,173,145 M188K possibly damaging Het
Other mutations in Lrrn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Lrrn4 APN 2 132870817 missense probably damaging 1.00
IGL00661:Lrrn4 APN 2 132870668 missense probably benign 0.08
IGL01542:Lrrn4 APN 2 132879472 missense probably benign
IGL01584:Lrrn4 APN 2 132878076 missense probably damaging 1.00
R0270:Lrrn4 UTSW 2 132870719 missense probably benign 0.01
R0348:Lrrn4 UTSW 2 132870443 missense probably benign 0.02
R0400:Lrrn4 UTSW 2 132878020 missense probably benign 0.12
R0701:Lrrn4 UTSW 2 132870160 missense probably benign 0.02
R1465:Lrrn4 UTSW 2 132872075 missense probably damaging 1.00
R1465:Lrrn4 UTSW 2 132872075 missense probably damaging 1.00
R1664:Lrrn4 UTSW 2 132869966 missense probably damaging 1.00
R1987:Lrrn4 UTSW 2 132870443 missense probably benign 0.02
R3409:Lrrn4 UTSW 2 132879861 missense unknown
R3743:Lrrn4 UTSW 2 132869866 splice site probably null
R4678:Lrrn4 UTSW 2 132879568 missense probably benign 0.16
R5770:Lrrn4 UTSW 2 132872156 missense probably damaging 1.00
R6438:Lrrn4 UTSW 2 132870142 missense probably damaging 1.00
R6511:Lrrn4 UTSW 2 132870326 missense probably benign 0.06
R6880:Lrrn4 UTSW 2 132872112 missense probably damaging 0.96
R7132:Lrrn4 UTSW 2 132879693 nonsense probably null
R7273:Lrrn4 UTSW 2 132879829 missense unknown
R7424:Lrrn4 UTSW 2 132869743 missense possibly damaging 0.90
R7710:Lrrn4 UTSW 2 132879531 missense probably benign 0.00
R7980:Lrrn4 UTSW 2 132878176 missense probably damaging 1.00
R8133:Lrrn4 UTSW 2 132878014 missense probably damaging 1.00
R8229:Lrrn4 UTSW 2 132869887 missense probably damaging 1.00
R8489:Lrrn4 UTSW 2 132879444 missense probably benign 0.20
Posted On2014-01-21