Incidental Mutation 'R0701:Lrrn4'
ID62999
Institutional Source Beutler Lab
Gene Symbol Lrrn4
Ensembl Gene ENSMUSG00000043110
Gene Nameleucine rich repeat neuronal 4
SynonymsB430119L13Rik
MMRRC Submission 038884-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.088) question?
Stock #R0701 (G1)
Quality Score118
Status Not validated
Chromosome2
Chromosomal Location132868305-132880891 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 132870160 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 581 (T581M)
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 probably benign
Transcript: ENSMUST00000049787
AA Change: T581M

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000057005
Gene: ENSMUSG00000043110
AA Change: T581M

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 91.3%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada A G 2: 163,730,075 V261A probably benign Het
Arhgef10 T A 8: 14,962,636 V320E probably damaging Het
Arhgef11 G T 3: 87,733,459 A1308S probably benign Het
Bach1 G A 16: 87,719,989 E473K probably damaging Het
Bsph1 G T 7: 13,472,256 C72F probably damaging Het
C2cd2l A G 9: 44,316,202 L186P probably damaging Het
C9 A C 15: 6,467,421 T200P probably damaging Het
Cald1 AAGAGAGAGAGAGAG AAGAGAGAGAGAG 6: 34,746,173 probably null Het
Chd1 C A 17: 15,725,431 N72K probably benign Het
Copg1 T A 6: 87,894,107 Y268* probably null Het
Csad A G 15: 102,179,136 S331P probably benign Het
Ddx31 G T 2: 28,858,777 R239L probably null Het
Fat1 G T 8: 45,026,553 A2879S probably benign Het
Fig4 T A 10: 41,240,512 R628* probably null Het
Fmnl3 T C 15: 99,321,307 N778S probably damaging Het
Gm10912 T C 2: 104,066,530 S5P probably benign Het
Gm13088 C T 4: 143,656,440 E70K possibly damaging Het
Haus3 G A 5: 34,166,015 T417M probably benign Het
Herc1 T G 9: 66,487,950 V4189G probably damaging Het
Hoxb3 C A 11: 96,346,248 S384* probably null Het
Ifnar2 A G 16: 91,404,229 T453A possibly damaging Het
Ift140 A G 17: 25,090,933 T1105A probably benign Het
Kmt2e T C 5: 23,473,583 V220A probably benign Het
Lrriq1 A T 10: 103,234,044 V37E probably benign Het
Mcur1 T C 13: 43,545,740 Y267C probably damaging Het
Mdn1 T A 4: 32,699,263 D1313E probably benign Het
Med13 T A 11: 86,307,038 T736S probably benign Het
Mlh3 A T 12: 85,267,903 I503K probably benign Het
Nckap5 A G 1: 126,025,357 F1089L probably benign Het
Olfr1258 A G 2: 89,930,201 T131A probably benign Het
Olfr1298 C T 2: 111,645,791 V69I probably benign Het
Olfr395 A T 11: 73,906,829 I221N probably damaging Het
Pdgfd A T 9: 6,359,706 D259V probably damaging Het
R3hdm1 A G 1: 128,181,739 Y309C probably damaging Het
Rab27b A T 18: 69,985,199 C216S probably damaging Het
Robo2 A G 16: 74,046,874 I151T probably damaging Het
Sh2d4a A G 8: 68,331,095 D227G probably damaging Het
Sis G T 3: 72,941,045 T632K probably damaging Het
Smcr8 T C 11: 60,778,115 Y30H probably damaging Het
Stap1 T C 5: 86,094,808 probably null Het
Syt16 G A 12: 74,235,112 V337I probably benign Het
Taf1c A T 8: 119,599,983 I438N probably damaging Het
Ttn A G 2: 76,898,068 probably benign Het
Unc45b T A 11: 82,940,205 L797Q possibly damaging Het
Usp6nl A G 2: 6,415,018 E144G possibly damaging Het
Wiz A T 17: 32,356,441 I907N probably damaging Het
Zap70 G A 1: 36,781,177 R513Q probably 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
IGL01723:Lrrn4 APN 2 132870061 missense possibly damaging 0.79
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
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 unclassified 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
Predicted Primers PCR Primer
(F):5'- AAAGTGGCACATGACCTCCTCCAG -3'
(R):5'- ACCCTCCACAGGATGAGATTCCAG -3'

Sequencing Primer
(F):5'- TTGGCTGCCAGTACACAC -3'
(R):5'- CACAGGATGAGATTCCAGTTTTGC -3'
Posted On2013-07-30