Incidental Mutation 'R6511:Lrrn4'
ID 519903
Institutional Source Beutler Lab
Gene Symbol Lrrn4
Ensembl Gene ENSMUSG00000043110
Gene Name leucine rich repeat neuronal 4
Synonyms B430119L13Rik
MMRRC Submission 044639-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R6511 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 132710225-132722811 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 132712246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 526 (S526R)
Ref Sequence ENSEMBL: ENSMUSP00000057005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028835] [ENSMUST00000049787] [ENSMUST00000124834] [ENSMUST00000124836] [ENSMUST00000154160]
AlphaFold P59383
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: S526R

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000057005
Gene: ENSMUSG00000043110
AA Change: S526R

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
Meta Mutation Damage Score 0.0880 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 100% (39/39)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,195,344 (GRCm39) H718Y probably damaging Het
Abcc8 G A 7: 45,800,285 (GRCm39) T499I possibly damaging Het
Azin2 C A 4: 128,828,259 (GRCm39) R316L probably damaging Het
Cep85l C T 10: 53,154,188 (GRCm39) V702I probably benign Het
Cfap69 A T 5: 5,667,220 (GRCm39) C442S probably damaging Het
Commd3 G A 2: 18,679,650 (GRCm39) G148R probably benign Het
Cyfip2 T C 11: 46,087,135 (GRCm39) T1252A probably benign Het
Cyp4a30b A T 4: 115,313,905 (GRCm39) D162V probably damaging Het
Exoc3l G T 8: 106,019,887 (GRCm39) T346K probably benign Het
Gas8 T C 8: 124,250,896 (GRCm39) V123A probably benign Het
Hmcn2 T G 2: 31,246,354 (GRCm39) D774E possibly damaging Het
Itga1 G T 13: 115,129,037 (GRCm39) S540R probably damaging Het
Itpr2 T C 6: 146,231,225 (GRCm39) N1145S probably damaging Het
Kcnc2 C T 10: 112,297,972 (GRCm39) probably benign Het
Lrp5 G A 19: 3,702,296 (GRCm39) R174W probably damaging Het
Map3k6 G A 4: 132,975,389 (GRCm39) R708H probably damaging Het
Mefv T C 16: 3,533,810 (GRCm39) T154A probably benign Het
Mrtfb T A 16: 13,197,714 (GRCm39) S66R probably damaging Het
Mtif2 G T 11: 29,486,949 (GRCm39) A320S possibly damaging Het
Nos2 A G 11: 78,846,290 (GRCm39) probably null Het
Or4k15b A G 14: 50,272,266 (GRCm39) L198P probably damaging Het
Or9g4 A G 2: 85,505,184 (GRCm39) S104P possibly damaging Het
Pip5k1c T C 10: 81,146,651 (GRCm39) Y44H probably damaging Het
Ppp1r13b T C 12: 111,798,001 (GRCm39) E972G probably damaging Het
Prdm12 T C 2: 31,530,321 (GRCm39) S71P probably damaging Het
Prkag2 G T 5: 25,305,286 (GRCm39) probably benign Het
Ptprb T C 10: 116,182,725 (GRCm39) L1467P probably damaging Het
Rnf43 G A 11: 87,622,989 (GRCm39) V697I probably benign Het
Rpl7 C A 1: 16,173,889 (GRCm39) A12S probably benign Het
Slc25a54 T G 3: 109,001,572 (GRCm39) I120S possibly damaging Het
Slc41a2 T C 10: 83,119,652 (GRCm39) H370R probably damaging Het
Speer1d A G 5: 11,307,275 (GRCm39) Y51C probably benign Het
Sv2c C T 13: 96,185,033 (GRCm39) V215I probably benign Het
Synpo2l T C 14: 20,712,518 (GRCm39) E34G probably damaging Het
Tubgcp5 T A 7: 55,467,140 (GRCm39) C703* probably null Het
Vmn1r158 T C 7: 22,490,116 (GRCm39) K31R probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp2 A T 11: 50,791,234 (GRCm39) C270S probably damaging Het
Other mutations in Lrrn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Lrrn4 APN 2 132,712,737 (GRCm39) missense probably damaging 1.00
IGL00661:Lrrn4 APN 2 132,712,588 (GRCm39) missense probably benign 0.08
IGL01542:Lrrn4 APN 2 132,721,392 (GRCm39) missense probably benign
IGL01584:Lrrn4 APN 2 132,719,996 (GRCm39) missense probably damaging 1.00
IGL01723:Lrrn4 APN 2 132,711,981 (GRCm39) missense possibly damaging 0.79
R0270:Lrrn4 UTSW 2 132,712,639 (GRCm39) missense probably benign 0.01
R0348:Lrrn4 UTSW 2 132,712,363 (GRCm39) missense probably benign 0.02
R0400:Lrrn4 UTSW 2 132,719,940 (GRCm39) missense probably benign 0.12
R0701:Lrrn4 UTSW 2 132,712,080 (GRCm39) missense probably benign 0.02
R1465:Lrrn4 UTSW 2 132,713,995 (GRCm39) missense probably damaging 1.00
R1465:Lrrn4 UTSW 2 132,713,995 (GRCm39) missense probably damaging 1.00
R1664:Lrrn4 UTSW 2 132,711,886 (GRCm39) missense probably damaging 1.00
R1987:Lrrn4 UTSW 2 132,712,363 (GRCm39) missense probably benign 0.02
R3409:Lrrn4 UTSW 2 132,721,781 (GRCm39) missense unknown
R3743:Lrrn4 UTSW 2 132,711,786 (GRCm39) splice site probably null
R4678:Lrrn4 UTSW 2 132,721,488 (GRCm39) missense probably benign 0.16
R5770:Lrrn4 UTSW 2 132,714,076 (GRCm39) missense probably damaging 1.00
R6438:Lrrn4 UTSW 2 132,712,062 (GRCm39) missense probably damaging 1.00
R6880:Lrrn4 UTSW 2 132,714,032 (GRCm39) missense probably damaging 0.96
R7132:Lrrn4 UTSW 2 132,721,613 (GRCm39) nonsense probably null
R7273:Lrrn4 UTSW 2 132,721,749 (GRCm39) missense unknown
R7424:Lrrn4 UTSW 2 132,711,663 (GRCm39) missense possibly damaging 0.90
R7710:Lrrn4 UTSW 2 132,721,451 (GRCm39) missense probably benign 0.00
R7980:Lrrn4 UTSW 2 132,720,096 (GRCm39) missense probably damaging 1.00
R8133:Lrrn4 UTSW 2 132,719,934 (GRCm39) missense probably damaging 1.00
R8229:Lrrn4 UTSW 2 132,711,807 (GRCm39) missense probably damaging 1.00
R8489:Lrrn4 UTSW 2 132,721,364 (GRCm39) missense probably benign 0.20
R8956:Lrrn4 UTSW 2 132,714,011 (GRCm39) missense probably damaging 1.00
R9337:Lrrn4 UTSW 2 132,712,552 (GRCm39) missense probably benign 0.11
R9342:Lrrn4 UTSW 2 132,712,290 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGGACGAGCACTGATGTGTC -3'
(R):5'- TGCCACACATATCCTTGAGCC -3'

Sequencing Primer
(F):5'- CTGATGTGTCAGTCACCTCTG -3'
(R):5'- ATCCTTGAGCCTAATATTTCATCTGC -3'
Posted On 2018-06-06